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
ADRBK1	156	broad.mit.edu	37	11	67052656	67052656	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:67052656C>T	uc009yrn.1	+	19	2168	c.1902C>T	c.(1900-1902)tgC>tgT	p.C634C		NM_001619	NP_001610	P25098	ARBK1_HUMAN	Homo sapiens adrenergic, beta, receptor kinase 1 (ADRBK1), mRNA.	634	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	ATP binding|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|alpha-2A adrenergic receptor binding|beta-adrenergic 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)	TTTTGCAGTGCGATGTGAGTG	0.632000												
ECD	11319	broad.mit.edu	37	10	74899444	74899444	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:74899444T>C	uc009xqx.3	-	10	1521	c.1278A>G	c.(1276-1278)atA>atG	p.I426M	ECD_uc001jtn.3_Missense_Mutation_p.I393M|ECD_uc009xqy.3_Missense_Mutation_p.I350M|ECD_uc001jto.3_Missense_Mutation_p.I92M	NM_001135752	NP_001129224	O95905	SGT1_HUMAN	Homo sapiens ecdysoneless homolog (Drosophila) (ECD), transcript variant 2, mRNA.	393					regulation of glycolysis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	transcription coactivator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(51;0.0119)					TATCAAATGGTATTGTCTGTA	0.343000												
PFKP	5214	broad.mit.edu	37	10	3154433	3154433	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:3154433C>T	uc001igp.3	+	10	1185	c.1109C>T	c.(1108-1110)gCg>gTg	p.A370V	PFKP_uc001igq.3_Missense_Mutation_p.A362V|PFKP_uc009xhr.3_Missense_Mutation_p.A332V|PFKP_uc009xhs.1_Missense_Mutation_p.A154V|PFKP_uc009xht.3_Missense_Mutation_p.A108V|PFKP_uc009xhu.3_5'Flank	NM_002627	NP_002618	Q01813	K6PP_HUMAN	Homo sapiens phosphofructokinase, platelet (PFKP), transcript variant 1, mRNA.	370					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		GTGCAGAAGGCGATGGACGAG	0.522000												
MYH3	4621	broad.mit.edu	37	17	10554850	10554850	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:10554850C>T	uc002gmq.2	-	4	572	c.484G>A	c.(484-486)Gcc>Acc	p.A162T		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	162	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						AACTGATAGGCGTTGTCAGAG	0.597000												
SYNE1	23345	broad.mit.edu	37	6	152631641	152631641	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:152631641A>T	uc021zhb.1	-	86	17132	c.16909T>A	c.(16909-16911)Ttt>Att	p.F5637I	SYNE1_uc003qos.4_Missense_Mutation_p.F161I|SYNE1_uc003qot.4_Missense_Mutation_p.F5566I|SYNE1_uc003qou.4_Missense_Mutation_p.F5637I	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	5637					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCTGCTTCAAATTTTTTCATA	0.428000										HNSCC(10;0.0054)		
DCAF4L1	285429	broad.mit.edu	37	4	41984291	41984291	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:41984291C>T	uc003gwk.2	+	0	579	c.482C>T	c.(481-483)gCg>gTg	p.A161V		NM_001029955	NP_001025126	Q3SXM0	DC4L1_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 4-like 1 (DCAF4L1), mRNA.	161										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						CTGCTCCCAGCGTCGCGGTTC	0.572000												
NLRP4	147945	broad.mit.edu	37	19	56382267	56382267	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:56382267G>A	uc002qmd.4	+	6	2851	c.2429G>A	c.(2428-2430)cGc>cAc	p.R810H	NLRP4_uc002qmf.3_Missense_Mutation_p.R735H|NLRP4_uc010etf.3_Missense_Mutation_p.R585H	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	810							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AAGAGCGTGCGCTATCTAGAC	0.517000												
RP1	6101	broad.mit.edu	37	8	55541823	55541823	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:55541823G>A	uc003xsd.1	+	3	5529	c.5381G>A	c.(5380-5382)gGc>gAc	p.G1794D	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1794					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TTGGCCCCAGGCCCAACGATG	0.458000												
TNFRSF19	55504	broad.mit.edu	37	13	24190110	24190110	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:24190110C>T	uc001uov.2	+	3	489	c.285C>T	c.(283-285)tgC>tgT	p.C95C	TNFRSF19_uc001uot.3_Silent_p.C95C|TNFRSF19_uc010tcu.2_5'UTR|TNFRSF19_uc001uow.3_Silent_p.C95C	NM_018647	NP_061117	Q9NS68	TNR19_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 19 (TNFRSF19), transcript variant 1, mRNA.	95					JNK cascade|apoptosis|induction of apoptosis	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)		GTCTGGACTGCGCAGTGGTGA	0.572000												
NUP153	9972	broad.mit.edu	37	6	17637996	17637996	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:17637996C>T	uc003ncd.1	-	15	2052	c.1852G>A	c.(1852-1854)Gca>Aca	p.A618T	NUP153_uc011dje.1_Missense_Mutation_p.A649T|NUP153_uc010jpl.1_Missense_Mutation_p.A576T	NM_005124	NP_005115	P49790	NU153_HUMAN	Homo sapiens nucleoporin 153kDa (NUP153), mRNA.	618					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			TTCGGCGATGCGAAACCTACA	0.403000												
WDR66	144406	broad.mit.edu	37	12	122372182	122372182	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:122372182C>T	uc009zxk.3	+	4	1077	c.918C>T	c.(916-918)tgC>tgT	p.C306C	WDR66_uc021rfh.1_Silent_p.C306C	NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN	Homo sapiens WD repeat domain 66 (WDR66), transcript variant 1, mRNA.	306							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		CCTGCCTCTGCGTCAGTGAAG	0.532000												
SERPINB2	5055	broad.mit.edu	37	18	61569049	61569049	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:61569049T>G	uc010xeu.2	+	6	944	c.611T>G	c.(610-612)tTc>tGc	p.F204C	SERPINB2_uc002ljo.3_Missense_Mutation_p.F204C|SERPINB2_uc002ljp.1_Missense_Mutation_p.F9C|SERPINB2_uc002ljq.1_Missense_Mutation_p.F9C	NM_001143818	NP_002566	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 2 (SERPINB2), transcript variant 1, mRNA.	204					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	Golgi apparatus|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	GCTGTCTACTTCAAAGGAAAG	0.383000												
SIN3A	25942	broad.mit.edu	37	15	75664419	75664419	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:75664419G>A	uc002bai.3	-	20	3982	c.3723C>T	c.(3721-3723)ggC>ggT	p.G1241G	SIN3A_uc002baj.3_Silent_p.G1241G|SIN3A_uc010uml.2_Silent_p.G1241G	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN	Homo sapiens SIN3 transcription regulator homolog A (yeast) (SIN3A), transcript variant 2, mRNA.	1241					blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	Sin3 complex|nucleolus	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						AGGGCACCAGGCCCTCCAGCC	0.527000												
DOCK4	9732	broad.mit.edu	37	7	111629103	111629103	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:111629103C>T	uc003vfy.3	-	5	700	c.431G>A	c.(430-432)cGc>cAc	p.R144H	DOCK4_uc003vfx.3_Missense_Mutation_p.R144H|DOCK4_uc003vga.1_5'UTR|DOCK4_uc010ljt.1_Missense_Mutation_p.R144H	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA.	144					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding	p.E143Q(1)		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)				AGTAATGTGGCGCTTCACGTC	0.577000												
IRS1	3667	broad.mit.edu	37	2	227660941	227660941	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:227660941C>T	uc021vxn.1	-	0	2514	c.2514G>A	c.(2512-2514)caG>caA	p.Q838Q	IRS1_uc002voh.4_Silent_p.Q838Q	NM_005544	NP_005535	P35568	IRS1_HUMAN	Homo sapiens insulin receptor substrate 1 (IRS1), mRNA.	838					fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	SH2 domain binding|insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GCAGATGGGGCTGCAGAACCT	0.637000												
ABL1	25	broad.mit.edu	37	9	133760767	133760767	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:133760767C>T	uc004bzw.3	+	10	3093	c.3090C>T	c.(3088-3090)ggC>ggT	p.G1030G	ABL1_uc004bzv.3_Silent_p.G1049G	NM_005157	NP_005148	P00519	ABL1_HUMAN	Homo sapiens c-abl oncogene 1, non-receptor tyrosine kinase (ABL1), transcript variant a, mRNA.	1030	F-actin-binding.				DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|SH3 domain binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	TCACCAAGGGCGTGGTCCTGG	0.632000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""							
CDH10	1008	broad.mit.edu	37	5	24498629	24498629	+	Splice_Site	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:24498629C>A	uc003jgr.2	-	9	1900	c.1394_splice	c.e9-1	p.N465_splice	CDH10_uc011cnu.2_Splice_Site	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	465	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TTGGGATTGTCTGGAAAAGGG	0.363000										HNSCC(23;0.051)		
ZNF484	83744	broad.mit.edu	37	9	95610226	95610226	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:95610226G>A	uc004asu.1	-	4	992	c.843C>T	c.(841-843)tgC>tgT	p.C281C	ANKRD19P_uc004asr.4_Intron|ZNF484_uc011lub.1_Silent_p.C283C|ZNF484_uc004asv.1_Silent_p.C245C|ZNF484_uc010mrb.1_Silent_p.C245C	NM_031486	NP_001007102	Q5JVG2	ZN484_HUMAN	Homo sapiens zinc finger protein 484 (ZNF484), transcript variant 1, mRNA.	281					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E280*(1)		NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						CACATTCATGGCATTCATGCT	0.433000												
PRIC285	85441	broad.mit.edu	37	20	62198324	62198324	+	Missense_Mutation	SNP	G	G	A	rs79249043	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:62198324G>A	uc002yfm.2	-	6	3279	c.2387C>T	c.(2386-2388)gCg>gTg	p.A796V	PRIC285_uc002yfl.1_Missense_Mutation_p.A227V	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	796					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			CAGCCAGGACGCCATGGACAT	0.677000												
RECQL4	9401	broad.mit.edu	37	8	145739054	145739054	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:145739054C>T	uc003zdj.3	-	12	2143	c.2101G>A	c.(2101-2103)Gat>Aat	p.D701N		NM_004260	NP_004251	O94761	RECQ4_HUMAN	Homo sapiens RecQ protein-like 4 (RECQL4), mRNA.	701	Helicase C-terminal.				DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|bubble DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-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;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			ATAATGGAATCGAGGTTTTGA	0.612000			"""N, F, S"""			"""osteosarcoma, skin basal and sqamous cell"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome			
FARS2	10667	broad.mit.edu	37	6	5368994	5368994	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:5368994G>A	uc010jnv.1	+	1	527	c.191G>A	c.(190-192)aGc>aAc	p.S64N	FARS2_uc003mwr.2_Missense_Mutation_p.S64N	NM_006567	NP_006558	O95363	SYFM_HUMAN	Homo sapiens phenylalanyl-tRNA synthetase 2, mitochondrial (FARS2), nuclear gene encoding mitochondrial protein, mRNA.	64					phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	GACGACCACAGCAACCTCACC	0.607000												
MLLT3	4300	broad.mit.edu	37	9	20448143	20448143	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:20448143C>T	uc003zoe.2	-	3	657	c.398G>A	c.(397-399)aGa>aAa	p.R133K	MLLT3_uc011lne.1_Missense_Mutation_p.R101K|MLLT3_uc011lnf.1_Missense_Mutation_p.R130K|MLLT3_uc003zof.3_Intron	NM_004529	NP_004520	P42568	AF9_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (MLLT3), mRNA.	133					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		CAGCAACTTTCTCCTAAAGTC	0.403000			T	MLL	ALL							
CPLX2	10814	broad.mit.edu	37	5	175306958	175306958	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:175306958C>T	uc003mde.1	+	4	661	c.315C>T	c.(313-315)tgC>tgT	p.C105C	CPLX2_uc003mdf.1_Silent_p.C105C|CPLX2_uc021yib.1_5'Flank	NM_006650	NP_006641	Q6PUV4	CPLX2_HUMAN	Homo sapiens complexin 2 (CPLX2), transcript variant 1, mRNA.	105					mast cell degranulation|positive regulation of synaptic plasticity|vesicle docking involved in exocytosis	cytosol		p.C105C(2)		endometrium(3)|kidney(2)|lung(3)|ovary(2)	10	all_cancers(89;0.004)|Renal(175;0.000269)|Lung NSC(126;0.00441)|all_lung(126;0.00747)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CTGCGGGCTGCGGGGACGAGG	0.627000												
UGT1A1	54658	broad.mit.edu	37	2	234526664	234526664	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:234526664G>A	uc002vup.3	+	0	374	c.311G>A	c.(310-312)aGt>aAt	p.S104N	UGT1A1_uc010zmv.1_Missense_Mutation_p.S104N	NM_019076	NP_061949	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A8 (UGT1A8), mRNA.	111					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding	p.D103N(1)		breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	CAAGTACGAAGTTTGTTTTCT	0.373000												
RBMXL2	27288	broad.mit.edu	37	11	7111248	7111248	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:7111248G>A	uc001mfc.2	+	0	1084	c.897G>A	c.(895-897)ccG>ccA	p.P299P		NM_014469	NP_055284	O75526	HNRGT_HUMAN	Homo sapiens RNA binding motif protein, X-linked-like 2 (RBMXL2), mRNA.	299	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	RNA binding|nucleotide binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGGGGACACCGCCATCTTACG	0.662000												
SPHKAP	80309	broad.mit.edu	37	2	228882781	228882781	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:228882781G>A	uc002vpq.2	-	6	2836	c.2789C>T	c.(2788-2790)gCg>gTg	p.A930V	SPHKAP_uc002vpp.2_Missense_Mutation_p.A930V|SPHKAP_uc010zlx.1_Missense_Mutation_p.A930V	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	930	PKA-RII subunit binding domain (By similarity).					cytoplasm	protein binding	p.A930V(3)|p.A930T(1)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TAATTCTTCCGCAAAGTCTGT	0.473000												
AFAP1	60312	broad.mit.edu	37	4	7873806	7873806	+	Splice_Site	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:7873806T>C	uc011bwk.1	-	2	272	c.-1_splice	c.e2-1		AFAP1_uc003gkg.1_Splice_Site	NM_001134647	NP_001128119	Q8N556	AFAP1_HUMAN	Homo sapiens actin filament associated protein 1 (AFAP1), transcript variant a, mRNA.							actin cytoskeleton|cytoplasm|focal adhesion	actin binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						ACTCTTCCATTGCTGACAACA	0.378000												
ASCC2	84164	broad.mit.edu	37	22	30221725	30221725	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:30221725C>T	uc003agr.3	-	2	270	c.126G>A	c.(124-126)ccG>ccA	p.P42P	ASCC2_uc011akr.2_Intron|ASCC2_uc003ags.3_Non-coding_Transcript	NM_032204	NP_115580	Q9H1I8	ASCC2_HUMAN	Homo sapiens activating signal cointegrator 1 complex subunit 2 (ASCC2), transcript variant 1, mRNA.	42					regulation of transcription, DNA-dependent|transcription, DNA-dependent					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			CTTTAGGGGGCGGTTTGTATA	0.557000												
C12orf74	338809	broad.mit.edu	37	12	93100872	93100872	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:93100872C>T	uc001tch.2	+	1	916	c.465C>T	c.(463-465)ggC>ggT	p.G155G	C12orf74_uc001tci.3_Silent_p.G155G|C12orf74_uc021rbt.1_Silent_p.G155G	NM_001037671	NP_001032760	Q32Q52	CL074_HUMAN	Homo sapiens chromosome 12 open reading frame 74 (C12orf74), transcript variant 2, mRNA.	155										kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						AGCAAGAAGGCCACTTCCTGC	0.572000												
NTNG2	84628	broad.mit.edu	37	9	135114555	135114555	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:135114555C>T	uc004cbh.2	+	5	1895	c.1119C>T	c.(1117-1119)tgC>tgT	p.C373C		NM_032536	NP_115925	Q96CW9	NTNG2_HUMAN	Homo sapiens netrin G2 (NTNG2), mRNA.	373	Laminin EGF-like 2.				axonogenesis	anchored to plasma membrane				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		TGGTGACCTGCGTCAGCTGCA	0.587000												
PEG3	5178	broad.mit.edu	37	19	57327787	57327787	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:57327787G>A	uc002qnu.2	-	6	2374	c.2023C>T	c.(2023-2025)Cgt>Tgt	p.R675C	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.R646C|PEG3_uc002qnv.2_Missense_Mutation_p.R675C|PEG3_uc002qnw.2_Missense_Mutation_p.R551C|PEG3_uc002qnx.2_Missense_Mutation_p.R549C|PEG3_uc010etr.2_Missense_Mutation_p.R675C	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	675					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GTTTTCTGACGCCTTTTAAGG	0.428000												
TNXB	7148	broad.mit.edu	37	6	32063527	32063527	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:32063527G>A	uc003nzl.2	-	2	2305	c.2103C>T	c.(2101-2103)ggC>ggT	p.G701G		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	701	EGF-like 18.				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						ACACACACTGGCCTGCCCGGC	0.682000												
PCDHB12	56124	broad.mit.edu	37	5	140589821	140589821	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:140589821G>A	uc003liz.3	+	0	1531	c.1342G>A	c.(1342-1344)Gcc>Acc	p.A448T	PCDHB12_uc011dak.2_Missense_Mutation_p.A111T	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	Homo sapiens protocadherin beta 12 (PCDHB12), mRNA.	448	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.A448D(1)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAATGACAACGCCCCCGCCTT	0.602000												
TXLNB	167838	broad.mit.edu	37	6	139563913	139563913	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:139563913G>A	uc021zfy.1	-	9	1970	c.1805C>T	c.(1804-1806)gCg>gTg	p.A602V		NM_153235	NP_694967	Q8N3L3	TXLNB_HUMAN	Homo sapiens taxilin beta (TXLNB), mRNA.	602			A -> P (in dbSNP:rs9495391).			cytoplasm		p.A602A(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		CTTCCAGGACGCCTGATCAGC	0.612000												
B4GALNT3	283358	broad.mit.edu	37	12	657408	657408	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:657408C>T	uc001qii.1	+	8	798	c.798C>T	c.(796-798)aaC>aaT	p.N266N	B4GALNT3_uc001qij.1_Silent_p.N168N	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 3 (B4GALNT3), mRNA.	266						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			GGCGACGGAACGACCCTGGAG	0.592000												
SRRM2	23524	broad.mit.edu	37	16	2815022	2815022	+	Missense_Mutation	SNP	G	G	A	rs151214324		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:2815022G>A	uc002crk.3	+	10	5042	c.4493G>A	c.(4492-4494)cGt>cAt	p.R1498H	SRRM2_uc002crj.1_Missense_Mutation_p.R1402H|SRRM2_uc002crl.1_Missense_Mutation_p.R1498H|SRRM2_uc010bsu.1_Missense_Mutation_p.R1402H	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	1498	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CCGAGGAGTCGTTCTCCATCA	0.498000												
ROBO2	6092	broad.mit.edu	37	3	77693990	77693990	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:77693990C>T	uc011bgk.2	+	25	4725	c.4082C>T	c.(4081-4083)gCc>gTc	p.A1361V	ROBO2_uc021xat.1_Missense_Mutation_p.A1373V|ROBO2_uc003dpy.4_Missense_Mutation_p.A1357V|ROBO2_uc003dpz.3_Missense_Mutation_p.A1422V|ROBO2_uc011bgj.2_Non-coding_Transcript	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	1357					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CAGCGCAATGCCAGCGACCTT	0.488000												
DNAH5	1767	broad.mit.edu	37	5	13811916	13811916	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:13811916C>T	uc003jfd.2	-	43	7289	c.7247G>A	c.(7246-7248)cGc>cAc	p.R2416H		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2416	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTGAGGTGAGCGTTTCTTAAG	0.393000									Kartagener syndrome			
ATXN7	6314	broad.mit.edu	37	3	63965619	63965619	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:63965619G>A	uc003dlv.3	+	5	1081	c.528G>A	c.(526-528)ccG>ccA	p.P176P	ATXN7_uc003dlw.4_Silent_p.P176P|ATXN7_uc021wzy.1_Silent_p.P176P|ATXN7_uc010hnw.3_Silent_p.P31P|ATXN7_uc011bfn.2_Silent_p.P31P	NM_000333	NP_000324	O15265	ATX7_HUMAN	Homo sapiens ataxin 7 (ATXN7), transcript variant SCA7a, mRNA.	176	Ser-rich.				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding	p.P176P(2)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		CCAGCAAGCCGCCTTTGGCCG	0.443000												
TMEM63B	55362	broad.mit.edu	37	6	44115223	44115223	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:44115223C>T	uc003owr.3	+	11	1037	c.973C>T	c.(973-975)Cga>Tga	p.R325*	TMEM63B_uc003owq.1_Nonsense_Mutation_p.R325*|TMEM63B_uc003ows.3_Nonsense_Mutation_p.R228*|TMEM63B_uc010jyz.3_Non-coding_Transcript	NM_018426	NP_060896	Q5T3F8	TM63B_HUMAN	Homo sapiens transmembrane protein 63B (TMEM63B), mRNA.	325						integral to membrane	nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			CTGTGTGGTGCGAGGCTGTGA	0.622000												
DDX49	54555	broad.mit.edu	37	19	19033426	19033426	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:19033426G>A	uc002nkq.2	+	5	716	c.649G>A	c.(649-651)Gag>Aag	p.E217K	HOMER3_uc002nkp.1_Intron|HOMER3_uc002nko.1_Intron|DDX49_uc002nks.2_Missense_Mutation_p.E110K|DDX49_uc002nkr.2_Non-coding_Transcript|DDX49_uc002nkt.1_Missense_Mutation_p.E99K	NM_019070	NP_061943	Q9Y6V7	DDX49_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 49 (DDX49), transcript variant 1, mRNA.	217							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|endometrium(6)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	18			Epithelial(12;0.0289)			GAGCACCGTGGAGCAGCTGGA	0.637000												
SLC2A5	6518	broad.mit.edu	37	1	9097693	9097693	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:9097693C>T	uc001apo.3	-	11	1750	c.1458G>A	c.(1456-1458)ccG>ccA	p.P486P	SLC2A5_uc010nzy.2_Silent_p.P427P|SLC2A5_uc010nzz.2_Silent_p.P371P|SLC2A5_uc010oaa.2_Silent_p.P442P	NM_003039	NP_003030	P22732	GTR5_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose/fructose transporter), member 5 (SLC2A5), transcript variant 1, mRNA.	486					carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CCTCCTTTTCCGGGTACACTT	0.507000												
FAM193B	54540	broad.mit.edu	37	5	176965990	176965990	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:176965990G>A	uc003mhu.3	-	1	458	c.369C>T	c.(367-369)ggC>ggT	p.G123G	FAM193B_uc003mht.3_5'Flank|FAM193B_uc003mhv.3_5'UTR|FAM193B_uc003mhw.3_Non-coding_Transcript	NM_001190946	NP_001177875	Q6IPW0	Q6IPW0_HUMAN	Homo sapiens family with sequence similarity 193, member B (FAM193B), transcript variant 3, mRNA.	0										kidney(1)|large_intestine(3)	4						GAGGCATCTCGCCTAGGAGAT	0.552000												
TTC21B	79809	broad.mit.edu	37	2	166797676	166797676	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:166797676G>A	uc002udk.3	-	5	704	c.571C>T	c.(571-573)Cgc>Tgc	p.R191C	TTC21B_uc002udl.3_Missense_Mutation_p.R191C|LOC100506134_uc021vsa.1_Intron|LOC100506134_uc002udm.2_Intron	NM_024753	NP_079029	Q7Z4L5	TT21B_HUMAN	Homo sapiens tetratricopeptide repeat domain 21B (TTC21B), mRNA.	191						cilium axoneme|cytoplasm|cytoskeleton	binding	p.R191H(1)		breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						TAATTCTGGCGCATCTCAAGG	0.408000												
ZNF193	7746	broad.mit.edu	37	6	28200861	28200861	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:28200861C>T	uc010jqz.2	+	4	1432	c.1243C>T	c.(1243-1245)Cga>Tga	p.R415*	ZNF193_uc003nkr.2_Nonsense_Mutation_p.R364*|ZNF193_uc003nkq.2_Nonsense_Mutation_p.R364*	NM_001199479	NP_001186408	O15535	ZN193_HUMAN	Homo sapiens zinc finger protein 193 (ZNF193), transcript variant 1, mRNA.	364					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(1)|lung(5)|prostate(1)	8						CACAGGGGAGCGACCTCACCA	0.498000												
GSR	2936	broad.mit.edu	37	8	30565642	30565642	+	Missense_Mutation	SNP	G	G	A	rs150594097		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:30565642G>A	uc003xih.2	-	3	573	c.439C>T	c.(439-441)Cgg>Tgg	p.R147W	GSR_uc022ato.1_Missense_Mutation_p.R147W|GSR_uc022atp.1_Missense_Mutation_p.R147W|GSR_uc022atq.1_Missense_Mutation_p.R147W	NM_000637	NP_000628	P00390	GSHR_HUMAN	Homo sapiens glutathione reductase (GSR), transcript variant 1, mRNA.	147					cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion	cytosol|mitochondrion	electron carrier activity|glutathione-disulfide reductase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	23				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157)	TAGGCATCCCGCTTTTCCTTA	0.443000												
SETX	23064	broad.mit.edu	37	9	135203175	135203175	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:135203175C>T	uc004cbk.3	-	9	3993	c.3810G>A	c.(3808-3810)ccG>ccA	p.P1270P	SETX_uc004cbj.3_Silent_p.P889P|SETX_uc010mzt.3_Silent_p.P889P	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	Homo sapiens senataxin (SETX), mRNA.	1270					RNA processing|cell death|double-strand break repair	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	p.P1270Q(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		ATTTCTTTGGCGGCACTATAG	0.433000												
PLXNA3	55558	broad.mit.edu	37	X	153689070	153689070	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:153689070T>G	uc004flm.3	+	1	720	c.547T>G	c.(547-549)Tcc>Gcc	p.S183A		NM_017514	NP_059984	P51805	PLXA3_HUMAN	Homo sapiens plexin A3 (PLXNA3), mRNA.	183	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CACCTTGAGCTCCCGCAAGCT	0.602000												
ABCA13	154664	broad.mit.edu	37	7	48280633	48280633	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:48280633G>A	uc003toq.2	+	9	1256	c.1232G>A	c.(1231-1233)gGc>gAc	p.G411D	ABCA13_uc010kyr.2_5'UTR	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	411					transport	integral to membrane	ATP binding|ATPase activity	p.G411D(1)|p.G356D(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCAGCAGATGGCCCAAAAGAT	0.443000												
PKHD1	5314	broad.mit.edu	37	6	51732850	51732850	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:51732850G>A	uc003pah.1	-	47	7820	c.7544C>T	c.(7543-7545)gCa>gTa	p.A2515V	PKHD1_uc010jzn.1_Missense_Mutation_p.A498V|PKHD1_uc003pai.3_Missense_Mutation_p.A2515V	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	2515					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.V2514L(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AAATGGAAATGCCACTAAGTT	0.388000												
GAS6	2621	broad.mit.edu	37	13	114526405	114526405	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:114526405G>A	uc001vug.3	-	4	1751	c.699C>T	c.(697-699)gcC>gcT	p.A233A	GAS6_uc001vud.3_Silent_p.A532A|GAS6_uc001vuf.3_Silent_p.A259A	NM_001143946	NP_001137418	Q14393	GAS6_HUMAN	Homo sapiens growth arrest-specific 6 (GAS6), transcript variant 3, mRNA.	575	EGF-like 3; calcium-binding (Potential).				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	Golgi lumen|endoplasmic reticulum lumen|extracellular space|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				AGAGAGGCACGGCACGGAGGT	0.627000												
FUT10	84750	broad.mit.edu	37	8	33319041	33319041	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:33319041C>T	uc011lbi.2	-	1	286	c.120G>A	c.(118-120)tcG>tcA	p.S40S	FUT10_uc003xjd.3_5'UTR|FUT10_uc003xje.3_5'UTR|FUT10_uc003xjf.3_5'UTR|FUT10_uc003xjg.3_5'UTR|FUT10_uc003xjh.3_5'UTR|FUT10_uc003xji.1_5'UTR			Q6P4F1	FUT10_HUMAN	Homo sapiens fucosyltransferase 10 (alpha (1,3) fucosyltransferase) (FUT10), mRNA.	0					L-fucose catabolic process|embryo development|fertilization|hemopoiesis|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		GCCCAGAGCCCGAGACAACTT	0.567000												
CCNJ	54619	broad.mit.edu	37	10	97816981	97816981	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:97816981G>A	uc010qoq.2	+	4	1076	c.717G>A	c.(715-717)gtG>gtA	p.V239V	LOC728558_uc001klg.2_Intron|LOC728558_uc001klj.2_Intron|CCNJ_uc001klm.3_Silent_p.V228V|CCNJ_uc001kln.3_Silent_p.V227V	NM_001134375	NP_001127847	Q5T5M9	CCNJ_HUMAN	Homo sapiens cyclin J (CCNJ), transcript variant 1, mRNA.	228						nucleus				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	11				Epithelial(162;6.1e-08)|all cancers(201;2.32e-06)		ATTTCTTAGTGCAGTGTATTG	0.413000												
OR10A5	144124	broad.mit.edu	37	11	6867086	6867086	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:6867086G>T	uc001met.1	+	0	173	c.173G>T	c.(172-174)aGc>aTc	p.S58I		NM_178168	NP_835462	Q9H207	O10A5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 5 (OR10A5), mRNA.	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ATGCTACACAGCCCCATGTAC	0.473000												
ABCG8	64241	broad.mit.edu	37	2	44101061	44101061	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:44101061C>T	uc002rtq.3	+	8	1437	c.1347C>T	c.(1345-1347)gcC>gcT	p.A449A	ABCG8_uc010yoa.2_Silent_p.A448A	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 8 (ABCG8), mRNA.	449	ABC transmembrane type-2.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TGGATACAGCCGCCCTCTTGT	0.552000												
CNOT1	23019	broad.mit.edu	37	16	58620473	58620473	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:58620473C>T	uc002env.3	-	6	906	c.613G>A	c.(613-615)Gct>Act	p.A205T	CNOT1_uc002enw.3_Non-coding_Transcript|CNOT1_uc002enu.4_Missense_Mutation_p.A205T|CNOT1_uc002enx.3_Missense_Mutation_p.A205T|CNOT1_uc002enz.1_Intron	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA.	205					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)		TTAAGAAAAGCGTCTATCTGT	0.498000												
ADNP2	22850	broad.mit.edu	37	18	77894583	77894583	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:77894583C>T	uc002lnw.3	+	3	1742	c.1287C>T	c.(1285-1287)gtC>gtT	p.V429V		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	Homo sapiens ADNP homeobox 2 (ADNP2), mRNA.	429					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		CCCCTGGGGTCCTGCAGGCTG	0.627000												
CELF4	56853	broad.mit.edu	37	18	34854311	34854311	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:34854311G>A	uc002lae.2	-	5	1160	c.764C>T	c.(763-765)gCc>gTc	p.A255V	CELF4_uc021uix.1_Missense_Mutation_p.A254V|CELF4_uc021uiy.1_Missense_Mutation_p.A255V|CELF4_uc002lag.2_Missense_Mutation_p.A245V|CELF4_uc002laf.2_Missense_Mutation_p.A250V|CELF4_uc002lai.2_Missense_Mutation_p.A240V|CELF4_uc002lah.2_5'Flank|CELF4_uc002laj.1_Silent_p.G90G	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN	Homo sapiens CUGBP, Elav-like family member 4 (CELF4), transcript variant 1, mRNA.	255	Necessary for TNNT2 exon 5 inclusion.|Sufficient for RNA-binding and MSE- dependent splicing activity.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						GAAAGGGATGGCCATGGGGTT	0.642000												
BPTF	2186	broad.mit.edu	37	17	65928049	65928049	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:65928049G>A	uc002jgf.3	+	17	6234	c.6173G>A	c.(6172-6174)cGc>cAc	p.R2058H	BPTF_uc002jge.3_Missense_Mutation_p.R2184H	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	2184					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex|cytoplasm	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			CCTCAGATTCGCCCTGGTATG	0.383000												
HOXC9	3225	broad.mit.edu	37	12	54396240	54396240	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:54396240G>A	uc001seq.3	+	1	661	c.565G>A	c.(565-567)Gcc>Acc	p.A189T		NM_006897	NP_008828	P31274	HXC9_HUMAN	Homo sapiens homeobox C9 (HOXC9), mRNA.	189					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						CTGGATTCACGCCCGCTCCAC	0.572000												
PREX1	57580	broad.mit.edu	37	20	47247280	47247280	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:47247280C>T	uc002xtw.1	-	35	4602	c.4579G>A	c.(4579-4581)Gta>Ata	p.V1527I	PREX1_uc002xtv.1_Missense_Mutation_p.V824I	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA.	1527					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|enzyme binding|phospholipid binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			TCTATCTTTACCGCCGTGGTG	0.627000												
ARHGAP17	55114	broad.mit.edu	37	16	24942549	24942549	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:24942549C>T	uc002dnb.3	-	18	2164	c.2071G>A	c.(2071-2073)Gcc>Acc	p.A691T	ARHGAP17_uc002dmw.3_5'UTR|ARHGAP17_uc002dmy.3_Missense_Mutation_p.A136T|ARHGAP17_uc002dmz.3_Missense_Mutation_p.A215T|ARHGAP17_uc002dna.3_Missense_Mutation_p.A418T|ARHGAP17_uc002dnc.3_Missense_Mutation_p.A613T|ARHGAP17_uc010vcf.2_Missense_Mutation_p.A434T	NM_001006634	NP_001006635	Q68EM7	RHG17_HUMAN	Homo sapiens Rho GTPase activating protein 17 (ARHGAP17), transcript variant 1, mRNA.	691	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		TGGGAGGGGGCGGAGGGCTGG	0.672000												
GRM8	2918	broad.mit.edu	37	7	126173421	126173421	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:126173421C>T	uc003vlr.2	-	7	2326	c.2015G>A	c.(2014-2016)cGt>cAt	p.R672H	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.R672H|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	672					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.N671Y(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TCGGTGGATACGGTTTGTTTT	0.493000										HNSCC(24;0.065)		
EFCAB7	84455	broad.mit.edu	37	1	63999206	63999206	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:63999206C>T	uc001dbf.3	+	4	862	c.568C>T	c.(568-570)Cgt>Tgt	p.R190C		NM_032437	NP_115813	A8K855	EFCB7_HUMAN	Homo sapiens EF-hand calcium binding domain 7 (EFCAB7), mRNA.	190							calcium ion binding	p.R190H(1)		breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						TAAATTGATGCGTCACCAGTT	0.393000												
NOX1	27035	broad.mit.edu	37	X	100105262	100105262	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:100105262C>T	uc004egj.3	-	8	1217	c.1011G>A	c.(1009-1011)tgG>tgA	p.W337*	NOX1_uc004egl.4_Nonsense_Mutation_p.W337*|NOX1_uc010nne.3_Nonsense_Mutation_p.W300*	NM_007052	NP_008983	Q9Y5S8	NOX1_HUMAN	Homo sapiens NADPH oxidase 1 (NOX1), transcript variant NOH-1L, mRNA.	337	FAD-binding FR-type.				FADH2 metabolic process|angiogenesis|cell migration|electron transport chain|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	NADPH oxidase complex|cell junction|early endosome|invadopodium membrane	Rac GTPase binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						TAAAAGGATGCCATTCCAGGA	0.458000												
PLCG2	5336	broad.mit.edu	37	16	81973507	81973507	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:81973507C>T	uc002fgt.3	+	29	3502	c.3324C>T	c.(3322-3324)ggC>ggT	p.G1108G		NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	1108	C2.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						atgataatggcctcagcccta	0.478000												
OR4N4	283694	broad.mit.edu	37	15	22383015	22383015	+	Silent	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:22383015C>A	uc001yuc.1	+	6	1524	c.543C>A	c.(541-543)gtC>gtA	p.V181V	abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc010tzv.2_Silent_p.V181V	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA.	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TCTGTGATGTCCGACAGGTCA	0.527000												
C5orf34	375444	broad.mit.edu	37	5	43494677	43494677	+	Silent	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:43494677A>G	uc003jnz.2	-	6	1581	c.1179T>C	c.(1177-1179)aaT>aaC	p.N393N		NM_198566	NP_940968	Q96MH7	CE034_HUMAN	Homo sapiens chromosome 5 open reading frame 34 (C5orf34), mRNA.	393										breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					GAGGAAGGTTATTTACTGAGT	0.323000												
SMAP1	60682	broad.mit.edu	37	6	71442157	71442157	+	Silent	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:71442157T>C	uc003pfr.3	+	1	443	c.195T>C	c.(193-195)gtT>gtC	p.V65V	SMAP1_uc011dxy.1_Non-coding_Transcript|SMAP1_uc003pfs.3_Silent_p.V65V|SMAP1_uc010kao.3_Silent_p.V65V|SMAP1_uc010kap.3_Silent_p.V55V	NM_001044305	NP_001037770	Q8IYB5	SMAP1_HUMAN	Homo sapiens small ArfGAP 1 (SMAP1), transcript variant 1, mRNA.	65	Arf-GAP.				regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						ATCTTGGGGTTCATATATCCA	0.363000												
A2M	2	broad.mit.edu	37	12	9268379	9268379	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:9268379C>T	uc001qvk.1	-	0	180	c.67G>A	c.(67-69)Gcc>Acc	p.A23T	A2M_uc009zgk.1_5'UTR	NM_000014	NP_000005	P01023	A2MG_HUMAN	Homo sapiens alpha-2-macroglobulin (A2M), mRNA.	23					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	GTPase activator activity|enzyme binding|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	GAGACTGAGGCGTCTGTGGGC	0.458000												
BNIP3	664	broad.mit.edu	37	10	133784260	133784260	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:133784260C>T	uc001lkv.1	-	4	546	c.421G>A	c.(421-423)Gcc>Acc	p.A141T	BNIP3_uc001lku.1_5'Flank|BNIP3_uc010qut.1_Missense_Mutation_p.A141T	NM_004052	NP_004043	Q12983	BNIP3_HUMAN	Homo sapiens BCL2/adenovirus E1B 19kDa interacting protein 3 (BNIP3), nuclear gene encoding mitochondrial protein, mRNA.	141					DNA fragmentation involved in apoptotic nuclear change|cellular response to cobalt ion|cellular response to hypoxia|cellular response to mechanical stimulus|chromatin remodeling|defense response to virus|induction of apoptosis|interspecies interaction between organisms|mitochondrial fragmentation involved in apoptosis|negative regulation of membrane potential|negative regulation of mitochondrial fusion|negative regulation of survival gene product expression|neuron apoptosis|positive regulation of mitochondrial fission|positive regulation of protein complex disassembly|positive regulation of release of cytochrome c from mitochondria|reactive oxygen species metabolic process|regulation of mitochondrial membrane permeability	dendrite|integral to mitochondrial outer membrane|nuclear envelope|nucleoplasm	GTPase binding|protein heterodimerization activity|protein homodimerization activity	p.A141D(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(35;4e-11)|all_epithelial(44;5.07e-08)|Ovarian(717;2.61e-05)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Breast(234;0.023)|all_neural(114;0.0299)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)		Epithelial(32;1.59e-12)|all cancers(32;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(35;2.57e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CTGAGGGTGGCCGTGCGCTTC	0.522000												
COL11A2	1302	broad.mit.edu	37	6	33138611	33138611	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:33138611C>T	uc003ocx.1	-	45	3678	c.3450G>A	c.(3448-3450)ggG>ggA	p.G1150G	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Silent_p.G1064G|COL11A2_uc003ocz.1_Silent_p.G1043G	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	1150	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GTCCTGGGGGCCCATTGAATC	0.607000												
TPTE2	93492	broad.mit.edu	37	13	20056687	20056687	+	Splice_Site	SNP	A	A	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:20056687A>T	uc001umd.3	-	5	331	c.120_splice	c.e5-1	p.S40_splice	TPTE2_uc009zzk.3_Intron|TPTE2_uc009zzl.3_Splice_Site_p.S40_splice|TPTE2_uc001ume.3_Intron|TPTE2_uc009zzm.3_Intron|TPTE2_uc010tcm.2_Splice_Site	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	40						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		GTTCTAACATACTTTAGCCAC	0.313000												
WNT3	7473	broad.mit.edu	37	17	44851186	44851186	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:44851186C>T	uc002ikv.2	-	1	289	c.170G>A	c.(169-171)cGc>cAc	p.R57H		NM_030753	NP_110380	P56703	WNT3_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 3 (WNT3), mRNA.	57					Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation	early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|signal transducer activity			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			GCGGCAGAAGCGCAGTTGCTT	0.662000												
ZNF238	10472	broad.mit.edu	37	1	244217659	244217659	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:244217659C>T	uc001iad.4	+	1	756	c.583C>T	c.(583-585)Cga>Tga	p.R195*	ZNF238_uc001iae.3_Nonsense_Mutation_p.R186*|ZNF238_uc001iaf.1_Nonsense_Mutation_p.R186*	NM_205768	NP_006343	Q99592	ZN238_HUMAN	Homo sapiens zinc finger protein 238 (ZNF238), transcript variant 1, mRNA.	186				KLNILPSKRDLAAEPGNMWMRLPSDSAGIPQAGGEAEPHAT AAGKTVASPCSSTESLSQRSVTSVRDSADVDCVLDLSVKSS LSGVENLNSSYFSSQ -> IEHPAQQKGLGGRAWEHVDAIA LRLSRHPPGWRRGRATRHSSWKNSSQPLQLNRVFVPE (in Ref. 1; AAA81368).	negative regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R186*(2)		NS(1)|breast(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(5)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38	all_cancers(71;6.42e-05)|all_epithelial(71;7e-05)|Breast(184;0.0333)|Ovarian(71;0.0619)|all_lung(81;0.089)|all_neural(11;0.101)|Lung NSC(105;0.123)		all cancers(7;1.35e-08)|GBM - Glioblastoma multiforme(7;1e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00223)			CATGTGGATGCGATTGCCCTC	0.572000												
ENTPD3	956	broad.mit.edu	37	3	40456333	40456333	+	Splice_Site	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:40456333T>C	uc003ckd.4	+	6	689	c.597_splice	c.e6+2	p.E199_splice	ENTPD3_uc010hhy.3_Splice_Site_p.E199_splice|ENTPD3-AS1_uc003cke.4_Intron	NM_001248	NP_001239	O75355	ENTP3_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 3 (ENTPD3), mRNA.	199						integral to membrane	ATP binding|hydrolase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		TTCCTGGAGGTGTGTGCAAAC	0.433000												
CATSPER2	117155	broad.mit.edu	37	15	43924939	43924939	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:43924939C>T	uc001zsh.3	-	10	1587	c.1372G>A	c.(1372-1374)Gaa>Aaa	p.E458K	STRC_uc010udz.1_5'Flank|CATSPER2_uc010bdm.3_Intron|CATSPER2_uc001zsi.3_Missense_Mutation_p.E456K|CATSPER2_uc001zsj.3_Missense_Mutation_p.E456K	NM_172095	NP_742093	Q96P56	CTSR2_HUMAN	Homo sapiens cation channel, sperm associated 2 (CATSPER2), transcript variant 2, mRNA.	458	Ser-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		AATCTGGATTCAgaagaggaa	0.378000												
PHF21B	112885	broad.mit.edu	37	22	45279115	45279115	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:45279115G>A	uc003bfn.3	-	12	1598	c.1447C>T	c.(1447-1449)Cgg>Tgg	p.R483W	PHF21B_uc011aqk.2_Missense_Mutation_p.R429W|PHF21B_uc003bfm.3_Missense_Mutation_p.R279W|PHF21B_uc011aql.2_Missense_Mutation_p.R441W	NM_138415	NP_612424	Q96EK2	PF21B_HUMAN	Homo sapiens PHD finger protein 21B (PHF21B), transcript variant 1, mRNA.	483							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		AGGAGGGCCCGCAGGCGGTCC	0.652000												
CSGALNACT1	55790	broad.mit.edu	37	8	19362852	19362852	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:19362852C>T	uc011kyn.2	-	3	1558	c.494G>A	c.(493-495)cGc>cAc	p.R165H	CSGALNACT1_uc011kyo.2_Missense_Mutation_p.R165H|CSGALNACT1_uc003wzg.3_Non-coding_Transcript|CSGALNACT1_uc011kyp.2_Missense_Mutation_p.R165H|CSGALNACT1_uc003wzh.2_Non-coding_Transcript	NM_001130518	NP_060841	Q8TDX6	CGAT1_HUMAN	Homo sapiens chondroitin sulfate N-acetylgalactosaminyltransferase 1 (CSGALNACT1), transcript variant 1, mRNA.	165					UDP-N-acetylgalactosamine metabolic process|UDP-glucuronate metabolic process|anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		CTCGGGGTGGCGGGTAAGGCC	0.557000												
PCDHAC2	56134	broad.mit.edu	37	5	140201540	140201540	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:140201540G>A	uc003lhl.2	+	0	180	c.180G>A	c.(178-180)ccG>ccA	p.P60P	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhk.1_Silent_p.P60P|PCDHAC2_uc003lhj.1_Silent_p.P60P	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	74	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.Q49fs*50(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTGGTGCCGCGCCTGTTCC	0.632000												
TDRD6	221400	broad.mit.edu	37	6	46657655	46657655	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:46657655C>T	uc003oyj.3	+	0	2044	c.1790C>T	c.(1789-1791)gCt>gTt	p.A597V	TDRD6_uc010jze.3_Missense_Mutation_p.A597V	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Homo sapiens tudor domain containing 6 (TDRD6), transcript variant 1, mRNA.	597					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			CCAATATTGGCTGTGAAGTGC	0.448000												
SGCB	6443	broad.mit.edu	37	4	52895995	52895995	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:52895995C>T	uc003gzj.2	-	2	338	c.278G>A	c.(277-279)gGa>gAa	p.G93E	SGCB_uc011bzp.1_Missense_Mutation_p.G23E	NM_000232	NP_000223	Q16585	SGCB_HUMAN	Homo sapiens sarcoglycan, beta (43kDa dystrophin-associated glycoprotein) (SGCB), mRNA.	93					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(6)|prostate(1)	17			GBM - Glioblastoma multiforme(4;7.63e-12)|LUSC - Lung squamous cell carcinoma(32;0.00204)			GCCATTTGGTCCAATGCGAAT	0.403000												
ODZ1	10178	broad.mit.edu	37	X	123539084	123539084	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:123539084C>T	uc010nqy.3	-	26	5252	c.5188G>A	c.(5188-5190)Gat>Aat	p.D1730N	ODZ1_uc011muj.2_Missense_Mutation_p.D1729N|ODZ1_uc004euj.3_Missense_Mutation_p.D1723N	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	1723					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						AGGGAACCATCTGGATTCACC	0.542000												
TSPAN5	10098	broad.mit.edu	37	4	99399869	99399869	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:99399869G>A	uc003hub.3	-	4	978	c.543C>T	c.(541-543)ggC>ggT	p.G181G	TSPAN5_uc011cdz.2_Silent_p.G110G	NM_005723	NP_005714	P62079	TSN5_HUMAN	Homo sapiens tetraspanin 5 (TSPAN5), mRNA.	181						integral to membrane				kidney(2)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;1.89e-07)		AGAATGGAACGCCACATCGCT	0.493000												
HDAC3	8841	broad.mit.edu	37	5	141005313	141005313	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:141005313G>A	uc003llf.2	-	12	1064	c.998C>T	c.(997-999)gCc>gTc	p.A333V	HDAC3_uc003lle.1_Missense_Mutation_p.A276V	NM_003883	NP_003874	O15379	HDAC3_HUMAN	Homo sapiens histone deacetylase 3 (HDAC3), mRNA.	333					anti-apoptosis|cellular lipid metabolic process|negative regulation of JNK cascade|negative regulation of cell cycle|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	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|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)	GAAGTCTGGGGCAAAGTACTC	0.493000												
KRT36	8689	broad.mit.edu	37	17	39645870	39645870	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:39645870A>G	uc002hwt.3	-	0	247	c.247T>C	c.(247-249)Tgg>Cgg	p.W83R		NM_003771	NP_003762	O76013	KRT36_HUMAN	Homo sapiens keratin 36 (KRT36), mRNA.	83	Head.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				TCGCAGAACCAGCCCCCGCTC	0.622000												
MCM2	4171	broad.mit.edu	37	3	127323952	127323952	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:127323952G>A	uc003ejp.3	+	3	683	c.626G>A	c.(625-627)aGc>aAc	p.S209N	MCM2_uc011bkm.2_Missense_Mutation_p.S79N|MCM2_uc010hsl.3_Non-coding_Transcript|MCM2_uc011bkn.2_Missense_Mutation_p.S93N	NM_004526	NP_004517	P49736	MCM2_HUMAN	Homo sapiens minichromosome maintenance complex component 2 (MCM2), mRNA.	209	Interaction with MYST2 (By similarity).				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex|chromatin	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						CACGTCGACAGCCACGGCCAC	0.627000												
ESF1	51575	broad.mit.edu	37	20	13763615	13763615	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:13763615G>A	uc002woj.3	-	1	280	c.172C>T	c.(172-174)Cgc>Tgc	p.R58C	ESF1_uc002wok.1_Missense_Mutation_p.R58C|NDUFAF5_uc002woo.3_5'Flank|NDUFAF5_uc002wom.3_5'Flank|NDUFAF5_uc002won.3_5'Flank	NM_016649	NP_057733	Q9H501	ESF1_HUMAN	Homo sapiens ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae) (ESF1), mRNA.	58					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm		p.R58H(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						CTAATGGGGCGCCCTCTTTTA	0.413000												
EP400	57634	broad.mit.edu	37	12	132529374	132529374	+	Silent	SNP	C	C	T	rs147763834	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:132529374C>T	uc001ujn.3	+	36	6812	c.6660C>T	c.(6658-6660)gaC>gaT	p.D2220D	EP400_uc021rgq.1_Silent_p.D2219D|EP400_uc001ujm.3_Silent_p.D2139D	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	2256					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CGCCGCAGGACGACAGCGACA	0.592000												
DNAJC5	80331	broad.mit.edu	37	20	62560817	62560817	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:62560817C>T	uc002yhf.3	+	2	493	c.260C>T	c.(259-261)gCc>gTc	p.A87V	DNAJC5_uc002yhh.3_Non-coding_Transcript	NM_025219	NP_079495	Q9H3Z4	DNJC5_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 5 (DNAJC5), mRNA.	87					neurotransmitter secretion|protein folding	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|melanosome|plasma membrane	heat shock protein binding|unfolded protein binding			cervix(1)|endometrium(1)|lung(1)|pancreas(1)|upper_aerodigestive_tract(1)	5	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CTCTACGTGGCCGAGCAGTTT	0.597000												
KDM5B	10765	broad.mit.edu	37	1	202704712	202704712	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:202704712G>A	uc009xag.3	-	22	3492	c.3376C>T	c.(3376-3378)Ctg>Ttg	p.L1126L	KDM5B_uc001gyf.3_Silent_p.L1090L|KDM5B_uc001gyg.1_Silent_p.L932L	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	Homo sapiens lysine (K)-specific demethylase 5B (KDM5B), mRNA.	1090					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CGAGGACACAGCACCTAATGT	0.383000												
ATP9A	10079	broad.mit.edu	37	20	50305609	50305609	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:50305609C>T	uc002xwg.1	-	8	793	c.793G>A	c.(793-795)Gca>Aca	p.A265T	ATP9A_uc010gih.1_Intron|ATP9A_uc002xwf.1_5'UTR	NM_006045	NP_006036	O75110	ATP9A_HUMAN	Homo sapiens ATPase, class II, type 9A (ATP9A), mRNA.	265					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCACCTGATGCGACCACAGTG	0.483000												
TTC3	7267	broad.mit.edu	37	21	38510956	38510956	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr21:38510956A>T	uc002yvz.3	+	18	1706	c.1601A>T	c.(1600-1602)aAc>aTc	p.N534I	TTC3_uc011aee.1_Missense_Mutation_p.N224I|TTC3_uc002ywa.3_Missense_Mutation_p.N534I|TTC3_uc002ywb.3_Missense_Mutation_p.N534I|TTC3_uc010gnf.3_Missense_Mutation_p.N299I|TTC3_uc002ywc.3_Missense_Mutation_p.N224I|TTC3_uc011aed.1_Missense_Mutation_p.N224I|TTC3_uc010gne.1_Missense_Mutation_p.N534I	NM_001001894	NP_003307	P53804	TTC3_HUMAN	Homo sapiens tetratricopeptide repeat domain 3 (TTC3), transcript variant 2, mRNA.	534					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				GCCATGATTAACTATGTTTTG	0.353000												
ATP9B	374868	broad.mit.edu	37	18	77133950	77133950	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:77133950C>T	uc002lmx.3	+	27	3137	c.3123C>T	c.(3121-3123)caC>caT	p.H1041H	ATP9B_uc002lmw.1_Silent_p.H1041H|ATP9B_uc002lna.3_Silent_p.H67H|ATP9B_uc002lnb.1_3'UTR|ATP9B_uc010drb.3_Non-coding_Transcript	NM_198531	NP_940933	O43861	ATP9B_HUMAN	Homo sapiens ATPase, class II, type 9B (ATP9B), mRNA.	1041					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		AGTTCGTCCACGTGGTGGCCA	0.602000												
YTHDC1	91746	broad.mit.edu	37	4	69180004	69180004	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:69180004C>T	uc003hdx.3	-	16	2350	c.1997G>A	c.(1996-1998)cGc>cAc	p.R666H	YTHDC1_uc003hdy.3_Missense_Mutation_p.R648H	NM_001031732	NP_001026902	Q96MU7	YTDC1_HUMAN	Homo sapiens YTH domain containing 1 (YTHDC1), transcript variant 1, mRNA.	666	Arg-rich.									NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						AGCTTGTGTGCGACGAAGGAA	0.478000												
RANBP10	57610	broad.mit.edu	37	16	67763353	67763353	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:67763353C>T	uc002eud.3	-	9	1298	c.1182G>A	c.(1180-1182)gcG>gcA	p.A394A	RANBP10_uc010ceo.3_Silent_p.A165A|RANBP10_uc010vju.2_Silent_p.A338A|RANBP10_uc010vjv.2_Silent_p.A277A|RANBP10_uc010vjw.1_Silent_p.A55A	NM_020850	NP_065901	Q6VN20	RBP10_HUMAN	Homo sapiens RAN binding protein 10 (RANBP10), mRNA.	394	Ser-rich.							p.V393I(1)|p.V393F(1)		endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		TCTTGGTGGACGCGACGCCAT	0.557000												
SEMA4D	10507	broad.mit.edu	37	9	91994281	91994281	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:91994281C>T	uc004aqo.1	-	17	2499	c.1927G>A	c.(1927-1929)Gtc>Atc	p.V643I	SEMA4D_uc011ltm.1_Intron|SEMA4D_uc011ltn.1_Intron|SEMA4D_uc011lto.1_Intron|SEMA4D_uc004aqp.1_Missense_Mutation_p.V643I	NM_006378	NP_006369	Q92854	SEM4D_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D (SEMA4D), transcript variant 1, mRNA.	643					anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						ACTTCCAGGACGTGCTTGGCG	0.527000												
POLR2A	5430	broad.mit.edu	37	17	7401440	7401440	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:7401440G>A	uc002ghf.4	+	7	1632	c.1246G>A	c.(1246-1248)Gcc>Acc	p.A416T	POLR2A_uc002ghe.3_Missense_Mutation_p.A416T	NM_000937	NP_000928	P24928	RPB1_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide A, 220kDa (POLR2A), mRNA.	416					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|RNA-directed RNA polymerase activity|metal ion binding|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				GTACCCAGGCGCCAAGTACAT	0.532000												
IGSF9B	22997	broad.mit.edu	37	11	133791085	133791085	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:133791085C>T	uc001qgx.4	-	17	2766	c.2535G>A	c.(2533-2535)acG>acA	p.T845T		NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	Homo sapiens immunoglobulin superfamily, member 9B (IGSF9B), mRNA.	845						integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GCTCGATGGGCGTGGTGGCCT	0.642000												
ZNF668	79759	broad.mit.edu	37	16	31075337	31075337	+	Silent	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:31075337G>T	uc021tgt.1	-	2	869	c.513C>A	c.(511-513)gcC>gcA	p.A171A	ZNF668_uc010cag.2_Silent_p.A148A|ZNF668_uc010caf.3_Silent_p.A148A|ZNF668_uc002eao.3_Silent_p.A148A	NM_001172669	NP_078982	Q96K58	ZN668_HUMAN	Homo sapiens zinc finger protein 668 (ZNF668), transcript variant 3, mRNA.	148					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GCGCGCCATAGGCCTTCGGGC	0.687000												
NTN1	9423	broad.mit.edu	37	17	8926018	8926018	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:8926018G>A	uc002glw.4	+	1	435	c.328G>A	c.(328-330)Gac>Aac	p.D110N		NM_004822	NP_004813	O95631	NET1_HUMAN	Homo sapiens netrin 1 (NTN1), mRNA.	110	Laminin N-terminal.				apoptosis|axon guidance		protein binding		NTN1/ACLY(2)	central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(5)	13						CTTCCTCACCGACCTCAACAA	0.652000												
DGKA	1606	broad.mit.edu	37	12	56346910	56346910	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:56346910C>T	uc001sij.3	+	21	2293	c.2029C>T	c.(2029-2031)Cgt>Tgt	p.R677C	DGKA_uc001sik.3_Missense_Mutation_p.R677C|DGKA_uc001sil.3_Missense_Mutation_p.R677C|DGKA_uc001sim.3_Missense_Mutation_p.R677C|DGKA_uc001sin.3_Missense_Mutation_p.R677C|DGKA_uc009zof.3_Missense_Mutation_p.R323C|DGKA_uc001sio.3_Missense_Mutation_p.R419C	NM_001345	NP_963848	P23743	DGKA_HUMAN	Homo sapiens diacylglycerol kinase, alpha 80kDa (DGKA), transcript variant 3, mRNA.	677					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	GAATGCTGGACGTCGGCTGGC	0.562000												
EDNRB	1910	broad.mit.edu	37	13	78492730	78492730	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:78492730C>T	uc001vkp.1	-	1	402	c.249G>A	c.(247-249)acG>acA	p.T83T	BX647243_uc001vks.3_5'Flank|EDNRB_uc001vkq.1_5'UTR|EDNRB_uc001vko.2_5'UTR|EDNRB_uc010aez.1_5'UTR	NM_001201397	NP_001188326	P24530	EDNRB_HUMAN	Homo sapiens endothelin receptor type B (EDNRB), transcript variant 4, mRNA.	0					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding	p.R83H(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	CTCCAGAAGGCGTCCGGTGGC	0.637000											OREG0022452	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
OR4A16	81327	broad.mit.edu	37	11	55110982	55110982	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:55110982A>C	uc010rie.2	+	0	306	c.306A>C	c.(304-306)gaA>gaC	p.E102D		NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 16 (OR4A16), mRNA.	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						TCTTCATAGAACACTTACTTG	0.438000												
KIAA0947	23379	broad.mit.edu	37	5	5461451	5461451	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:5461451G>A	uc003jdm.4	+	12	2226	c.2004G>A	c.(2002-2004)ccG>ccA	p.P668P		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	Homo sapiens KIAA0947 (KIAA0947), mRNA.	668										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						CTACTGAACCGCATCATTCAG	0.393000												
ANGPT2	285	broad.mit.edu	37	8	6360702	6360702	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:6360702C>T	uc003wqj.4	-	8	1740	c.1411G>A	c.(1411-1413)Ggc>Agc	p.G471S	MCPH1_uc003wqi.3_Intron|ANGPT2_uc003wqk.4_Missense_Mutation_p.G470S|ANGPT2_uc010lri.3_Missense_Mutation_p.G419S	NM_001147	NP_001138	O15123	ANGP2_HUMAN	Homo sapiens angiopoietin 2 (ANGPT2), transcript variant 1, mRNA.	471	Fibrinogen C-terminal.				Tie receptor signaling pathway|angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis	extracellular space	metal ion binding|receptor tyrosine kinase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		CATTTAATGCCGTTGAACTTA	0.463000												
CFD	1675	broad.mit.edu	37	19	860951	860951	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:860951G>A	uc002lqc.3	+	2	328	c.303G>A	c.(301-303)gtG>gtA	p.V101V		NM_001928	NP_001919	P00746	CFAD_HUMAN	Homo sapiens complement factor D (adipsin) (CFD), mRNA.	101	Peptidase S1.				complement activation, alternative pathway|platelet activation|platelet degranulation|proteolysis	platelet alpha granule lumen	serine-type endopeptidase activity						Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCGCGCAGTGCCCCACCCGG	0.721000												
FLG	2312	broad.mit.edu	37	1	152278792	152278792	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:152278792C>T	uc001ezu.1	-	2	8606	c.8570G>A	c.(8569-8571)cGt>cAt	p.R2857H		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2857	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCATGGTGACGCGACCCTGA	0.572000									Ichthyosis			
PDE6A	5145	broad.mit.edu	37	5	149242740	149242740	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:149242740G>A	uc003lrg.4	-	20	2568	c.2448C>T	c.(2446-2448)taC>taT	p.Y816Y	PDE6A_uc021yfs.1_Silent_p.Y735Y	NM_000440	NP_000431	P16499	PDE6A_HUMAN	Homo sapiens phosphodiesterase 6A, cGMP-specific, rod, alpha (PDE6A), mRNA.	816					GMP metabolic process|cytosolic calcium ion homeostasis|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TCTTGGCATCGTACTCATCAG	0.552000												
C5	727	broad.mit.edu	37	9	123769199	123769199	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:123769199A>C	uc004bkv.3	-	18	2435	c.2405T>G	c.(2404-2406)gTt>gGt	p.V802G	C5_uc010mvm.1_Missense_Mutation_p.V802G	NM_001735	NP_001726	P01031	CO5_HUMAN	Homo sapiens complement component 5 (C5), mRNA.	802			V -> I (in dbSNP:rs17611).		G-protein coupled receptor protein signaling pathway|activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	TGAAATGCCAACGCCTTGAAT	0.328000												
ENTPD4	9583	broad.mit.edu	37	8	23299095	23299095	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:23299095G>A	uc003xdl.3	-	7	1141	c.869C>T	c.(868-870)gCg>gTg	p.A290V	ENTPD4_uc011kzu.1_Intron|ENTPD4_uc003xdm.3_Intron|ENTPD4_uc011kzv.1_Missense_Mutation_p.A290V	NM_004901	NP_004892	Q9Y227	ENTP4_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 4 (ENTPD4), transcript variant 1, mRNA.	290					UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		CTGTGAGGACGCAAAGCTTAC	0.463000												
ST8SIA4	7903	broad.mit.edu	37	5	100238558	100238558	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:100238558C>T	uc003knk.3	-	0	430	c.102G>A	c.(100-102)acG>acA	p.T34T	ST8SIA4_uc003knl.3_Silent_p.T34T	NM_005668	NP_005659	Q92187	SIA8D_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 (ST8SIA4), transcript variant 1, mRNA.	34					N-glycan processing|axon guidance	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		CGATGAGTTGCGTCTCCTGGT	0.413000												
COG1	9382	broad.mit.edu	37	17	71197469	71197469	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:71197469C>T	uc002jjg.3	+	6	1539	c.1503C>T	c.(1501-1503)agC>agT	p.S501S	COG1_uc002jjf.1_Silent_p.S501S|COG1_uc002jjh.3_Silent_p.S501S	NM_018714	NP_061184	Q8WTW3	COG1_HUMAN	Homo sapiens component of oligomeric golgi complex 1 (COG1), mRNA.	501					Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			TTGCCAGTAGCGGCCTCTCCA	0.532000												
PCDHB16	57717	broad.mit.edu	37	5	140563922	140563922	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:140563922G>A	uc003liv.3	+	0	2943	c.1788G>A	c.(1786-1788)tcG>tcA	p.S596S	PCDHB9_uc003liw.1_5'Flank	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	Homo sapiens protocadherin beta 16 (PCDHB16), mRNA.	596	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACGGCGACTCGGGCCAGAATG	0.716000												
DEM1	64789	broad.mit.edu	37	1	40981166	40981166	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:40981166C>T	uc001cfp.3	+	2	1155	c.950C>T	c.(949-951)gCc>gTc	p.A317V	DEM1_uc001cfq.3_Missense_Mutation_p.A317V|DEM1_uc001cfr.3_Missense_Mutation_p.A317V|DEM1_uc021omb.1_Missense_Mutation_p.A317V	NM_022774	NP_073611	Q9H790	EXO5_HUMAN	Homo sapiens defects in morphology 1 homolog (S. cerevisiae) (DEM1), mRNA.	317							DNA binding|exonuclease activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)|urinary_tract(2)	10						GAGGTGAGAGCCAAGGTGCAG	0.522000												
MAPK7	5598	broad.mit.edu	37	17	19284190	19284190	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:19284190C>T	uc002gvn.3	+	3	1054	c.668C>T	c.(667-669)gCc>gTc	p.A223V	B9D1_uc010cqm.1_5'Flank|MAPK7_uc002gvo.3_Missense_Mutation_p.A84V|MAPK7_uc002gvq.3_Missense_Mutation_p.A223V|MAPK7_uc002gvp.3_Missense_Mutation_p.A223V	NM_139033	NP_620601	Q13164	MK07_HUMAN	Homo sapiens mitogen-activated protein kinase 7 (MAPK7), transcript variant 1, mRNA.	223	Necessary for oligomerization (By similarity).|Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|cell cycle|cell differentiation|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					GAGTATGTGGCCACGCGCTGG	0.537000												
DCST2	127579	broad.mit.edu	37	1	154999075	154999075	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:154999075G>A	uc001fgm.3	-	8	1539	c.1459C>T	c.(1459-1461)Cgt>Tgt	p.R487C	DCST2_uc009wpb.3_Non-coding_Transcript	NM_144622	NP_653223	Q5T1A1	DCST2_HUMAN	Homo sapiens DC-STAMP domain containing 2 (DCST2), mRNA.	487						integral to membrane		p.R487L(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AGGAGACAACGCCGGGACAAA	0.532000												
STK32B	55351	broad.mit.edu	37	4	5458606	5458606	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:5458606T>C	uc003gih.1	+	7	803	c.739T>C	c.(739-741)Tac>Cac	p.Y247H	STK32B_uc010ida.1_Missense_Mutation_p.Y200H	NM_018401	NP_060871	Q9NY57	ST32B_HUMAN	Homo sapiens serine/threonine kinase 32B (STK32B), mRNA.	247	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						GCGTGTCCACTACTCCTCCAC	0.567000												
OBSL1	23363	broad.mit.edu	37	2	220432875	220432875	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:220432875C>T	uc010fwk.3	-	1	1498	c.1184G>A	c.(1183-1185)cGg>cAg	p.R395Q	OBSL1_uc010fwl.2_Missense_Mutation_p.R395Q|OBSL1_uc002vmi.3_Missense_Mutation_p.R395Q	NM_015311	NP_056126	O75147	OBSL1_HUMAN	Homo sapiens obscurin-like 1 (OBSL1), transcript variant 1, mRNA.	395	Ig-like 4.				cardiac myofibril assembly	M band|Z disc|intercalated disc|perinuclear region of cytoplasm	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GATGAGGCGCCGGACAGTGCC	0.622000											OREG0003988	type=REGULATORY REGION|Gene=OBSL1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay
CAMK1D	57118	broad.mit.edu	37	10	12833171	12833171	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:12833171G>A	uc001ilo.3	+	5	815	c.580G>A	c.(580-582)Gcc>Acc	p.A194T	CAMK1D_uc001iln.3_Missense_Mutation_p.A194T	NM_153498	NP_705718	Q8IU85	KCC1D_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase ID (CAMK1D), transcript variant 2, mRNA.	194	Protein kinase.					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		TGAAGTCCTCGCCCAGAAACC	0.502000												
MTMR9	66036	broad.mit.edu	37	8	11180276	11180276	+	Silent	SNP	C	C	T	rs148685240		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:11180276C>T	uc003wtm.3	+	9	2027	c.1629C>T	c.(1627-1629)gaC>gaT	p.D543D	MTMR9_uc010lrx.3_Silent_p.D436D|MTMR9_uc011kxa.2_Silent_p.D458D|CR749668_uc003wtn.2_5'Flank|CR749668_uc003wto.1_Intron	NM_015458	NP_056273	Q96QG7	MTMR9_HUMAN	Homo sapiens myotubularin related protein 9 (MTMR9), mRNA.	543						cytoplasm	phosphatase activity|protein binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		AAACAGAGGACGGGATGCAGG	0.463000												
RXFP3	51289	broad.mit.edu	37	5	33937066	33937066	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:33937066C>T	uc003jic.2	+	0	576	c.221C>T	c.(220-222)gCg>gTg	p.A74V		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 3 (RXFP3), mRNA.	74						integral to plasma membrane	N-formyl peptide receptor activity	p.A74V(2)		endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						GCAGAGAGCGCGGACACAGAG	0.692000												
PRDM1	639	broad.mit.edu	37	6	106553770	106553770	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:106553770G>A	uc003prd.2	+	4	1969	c.1735G>A	c.(1735-1737)Gtt>Att	p.V579I	PRDM1_uc003pre.3_Missense_Mutation_p.V445I	NM_001198	NP_001189	O75626	PRDM1_HUMAN	Homo sapiens PR domain containing 1, with ZNF domain (PRDM1), transcript variant 1, mRNA.	579					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.?(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		CGAATGCAACGTTTGCGCCAA	0.483000			"""D, N, Mis, F, S"""		DLBCL							
AKAP11	11215	broad.mit.edu	37	13	42876608	42876608	+	Silent	SNP	G	G	A	rs149090364	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:42876608G>A	uc001uys.2	+	7	3901	c.3726G>A	c.(3724-3726)tcG>tcA	p.S1242S		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 11 (AKAP11), mRNA.	1242					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		GAAGTGTGTCGCCTACTTTTT	0.373000												
N4BP2	55728	broad.mit.edu	37	4	40104327	40104327	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:40104327G>A	uc003guy.4	+	3	1200	c.862G>A	c.(862-864)Gcc>Acc	p.A288T	N4BP2_uc010ifq.3_Missense_Mutation_p.A208T|N4BP2_uc010ifr.3_Missense_Mutation_p.A208T	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Homo sapiens NEDD4 binding protein 2 (N4BP2), mRNA.	288						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						AGATTTGGATGCCAGTGAACC	0.453000												
GSN	2934	broad.mit.edu	37	9	124064372	124064372	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:124064372C>T	uc004blf.1	+	1	337	c.276C>T	c.(274-276)ggC>ggT	p.G92G	GSN_uc004bld.1_Silent_p.G41G|GSN_uc010mvr.1_Silent_p.G52G|GSN_uc010mvq.1_Silent_p.G52G|GSN_uc010mvu.1_Silent_p.G41G|GSN_uc010mvt.1_Silent_p.G41G|GSN_uc010mvs.1_Silent_p.G41G|GSN_uc004ble.1_Silent_p.G41G|GSN_uc010mvv.1_Silent_p.G41G|GSN_uc011lyh.1_Silent_p.G58G|GSN_uc011lyi.1_Silent_p.G41G|GSN_uc011lyj.1_Silent_p.G65G	NM_000177	NP_000168	P06396	GELS_HUMAN	Homo sapiens gelsolin (GSN), transcript variant 1, mRNA.	92	Actin-severing (Potential).				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding	p.G41G(1)|p.G92G(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						TCTTCACGGGCGACGCCTACG	0.602000												
GPR3	2827	broad.mit.edu	37	1	27720703	27720703	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:27720703G>A	uc001bod.3	+	1	496	c.401G>A	c.(400-402)cGc>cAc	p.R134H	GPR3_uc021ojv.1_Missense_Mutation_p.R134H	NM_005281	NP_005272	P46089	GPR3_HUMAN	Homo sapiens G protein-coupled receptor 3 (GPR3), mRNA.	134					activation of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane				endometrium(3)|lung(3)|ovary(1)|skin(1)	8		Breast(348;1.53e-05)|Ovarian(437;0.0606)|all_lung(284;0.157)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.81e-26)|Colorectal(126;1.24e-08)|KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;4.45e-06)|Lung(427;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|LUSC - Lung squamous cell carcinoma(448;0.008)|READ - Rectum adenocarcinoma(331;0.0419)		ACTGTCGACCGCTACCTTTCT	0.577000												
PTPN13	5783	broad.mit.edu	37	4	87726516	87726516	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:87726516C>A	uc003hpz.3	+	43	7219	c.6739C>A	c.(6739-6741)Ctt>Att	p.L2247I	PTPN13_uc003hpy.3_Missense_Mutation_p.L2252I|PTPN13_uc003hqa.3_Missense_Mutation_p.L2228I|PTPN13_uc003hqb.3_Missense_Mutation_p.L2056I|PTPN13_uc003hqc.1_Missense_Mutation_p.L613I	NM_080683	NP_542414	Q12923	PTN13_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) (PTPN13), transcript variant 1, mRNA.	2247	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TAAAAATATACTTCCCTGTAA	0.303000												
ARHGAP30	257106	broad.mit.edu	37	1	161022260	161022260	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:161022260G>A	uc001fxl.3	-	7	1256	c.910C>T	c.(910-912)Cgt>Tgt	p.R304C	ARHGAP30_uc001fxk.3_Missense_Mutation_p.R304C|ARHGAP30_uc001fxm.3_Missense_Mutation_p.R150C|ARHGAP30_uc009wtx.3_5'UTR|ARHGAP30_uc001fxn.1_Missense_Mutation_p.R150C	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA.	304					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GGAAGTTTACGCTTAGTCTCA	0.552000												
SNPH	9751	broad.mit.edu	37	20	1277814	1277814	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:1277814C>T	uc002wet.3	+	4	889	c.208C>T	c.(208-210)Cgg>Tgg	p.R70W	SNPH_uc002wes.3_Missense_Mutation_p.R26W	NM_014723	NP_055538	O15079	SNPH_HUMAN	Homo sapiens syntaphilin (SNPH), mRNA.	26					synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding	p.P70P(1)		endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TGTGAGCGTGCGGGATGCCTA	0.637000												
PKIA	5569	broad.mit.edu	37	8	79514053	79514053	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:79514053C>T	uc003yba.3	+	3	752	c.228C>T	c.(226-228)agC>agT	p.S76S	PKIA_uc003ybb.3_Silent_p.S76S|PKIA_uc010lzo.3_Silent_p.S76S	NM_006823	NP_862822	P61925	IPKA_HUMAN	Homo sapiens protein kinase (cAMP-dependent, catalytic) inhibitor alpha (PKIA), transcript variant 1, mRNA.	76							cAMP-dependent protein kinase inhibitor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	6						AATCTGAAAGCTAACACCCCA	0.428000												
USP31	57478	broad.mit.edu	37	16	23079707	23079707	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:23079707C>T	uc002dll.3	-	15	3719	c.3719G>A	c.(3718-3720)cGc>cAc	p.R1240H	USP31_uc002dlk.3_Missense_Mutation_p.R512H|USP31_uc010vca.2_Missense_Mutation_p.R543H|USP31_uc010bxm.3_Missense_Mutation_p.R528H	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	Homo sapiens ubiquitin specific peptidase 31 (USP31), mRNA.	1240					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		ATCCGTCGAGCGCCGGGTTTC	0.537000												
LPA	4018	broad.mit.edu	37	6	160977182	160977182	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:160977182G>T	uc003qtl.3	-	30	4968	c.4848C>A	c.(4846-4848)tgC>tgA	p.C1616*		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	4124	Kringle 15.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TACCATGGTAGCACTGCCGGA	0.468000												
BIRC6	57448	broad.mit.edu	37	2	32750576	32750576	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:32750576G>A	uc010ezu.3	+	58	11935	c.11801G>A	c.(11800-11802)cGc>cAc	p.R3934H		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	3934					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ACACCACCTCGCCCACCATCC	0.443000												
PLS3	5358	broad.mit.edu	37	X	114877715	114877715	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:114877715A>G	uc004eqe.3	+	9	1212	c.1078A>G	c.(1078-1080)Agt>Ggt	p.S360G	PLS3_uc010nqg.3_Missense_Mutation_p.S142G|PLS3_uc004eqd.3_Missense_Mutation_p.S360G|PLS3_uc011mtf.2_Missense_Mutation_p.S347G|PLS3_uc011mth.2_Missense_Mutation_p.S315G|PLS3_uc011mtg.2_Missense_Mutation_p.S333G|PLS3_uc011mti.2_Missense_Mutation_p.S36G|PLS3_uc011mtj.2_Intron|PLS3_uc011mtl.2_Non-coding_Transcript	NM_001136025	NP_005023	P13797	PLST_HUMAN	Homo sapiens plastin 3 (PLS3), transcript variant 2, mRNA.	360	Actin-binding 1.|CH 2.					cytoplasm	actin binding|calcium ion binding			NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						TGATGTTGTCAGTGGAAACCC	0.413000												
GPR52	9293	broad.mit.edu	37	1	174417499	174417499	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:174417499G>A	uc001gka.1	+	0	288	c.250G>A	c.(250-252)Gca>Aca	p.A84T	RABGAP1L_uc001gjw.3_Intron|RABGAP1L_uc001gjx.3_Intron|RABGAP1L_uc001gjy.3_Intron|RABGAP1L_uc001gjz.3_Intron	NM_005684	NP_005675	Q9Y2T5	GPR52_HUMAN	Homo sapiens G protein-coupled receptor 52 (GPR52), mRNA.	84						integral to plasma membrane	G-protein coupled receptor activity			breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						TCAGACGATGGCATATGCTGA	0.423000												
ACAA2	10449	broad.mit.edu	37	18	47329200	47329200	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:47329200G>A	uc002ldw.4	-	1	437	c.40C>T	c.(40-42)Cga>Tga	p.R14*		NM_006111	NP_006102	P42765	THIM_HUMAN	Homo sapiens acetyl-CoA acyltransferase 2 (ACAA2), nuclear gene encoding mitochondrial protein, mRNA.	14					anti-apoptosis|cholesterol biosynthetic process		acetyl-CoA C-acyltransferase activity|protein binding			large_intestine(2)|lung(7)|ovary(1)	10						AAGGGCGTTCGCTTAGCAGCA	0.453000												
ENGASE	64772	broad.mit.edu	37	17	77082286	77082286	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:77082286G>A	uc002jwv.3	+	13	2095	c.2087G>A	c.(2086-2088)cGg>cAg	p.R696Q	ENGASE_uc002jww.3_Missense_Mutation_p.R401Q	NM_001042573	NP_001036038	Q8NFI3	ENASE_HUMAN	Homo sapiens endo-beta-N-acetylglucosaminidase (ENGASE), mRNA.	696						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						ACCCAGTACCGGATAGTGGAC	0.632000												
ADAM7	8756	broad.mit.edu	37	8	24339818	24339818	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:24339818T>C	uc003xeb.3	+	8	982	c.869T>C	c.(868-870)tTa>tCa	p.L290S	ADAM7_uc003xec.3_Missense_Mutation_p.L62S	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	290	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		CATGTTGTATTACTCAGGTTG	0.274000												
PLEKHA6	22874	broad.mit.edu	37	1	204226501	204226501	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:204226501G>A	uc001hau.3	-	8	1821	c.1504C>T	c.(1504-1506)Cga>Tga	p.R502*	PLEKHA6_uc009xaw.1_Nonsense_Mutation_p.R126*|PLEKHA6_uc009xax.1_Nonsense_Mutation_p.R126*|PLEKHA6_uc009xay.1_Nonsense_Mutation_p.R126*|PLEKHA6_uc009xaz.1_Nonsense_Mutation_p.R126*|PLEKHA6_uc009xba.1_Nonsense_Mutation_p.R126*|PLEKHA6_uc009xbb.1_Nonsense_Mutation_p.R126*|PLEKHA6_uc009xbc.1_Nonsense_Mutation_p.R126*	NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 6 (PLEKHA6), mRNA.	502										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			CTGATGGATCGCCTCATCACA	0.592000												
PHLDB2	90102	broad.mit.edu	37	3	111632332	111632332	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:111632332G>A	uc010hqa.3	+	2	1913	c.1502G>A	c.(1501-1503)aGc>aAc	p.S501N	PHLDB2_uc003dyc.3_Missense_Mutation_p.S528N|PHLDB2_uc003dyd.3_Missense_Mutation_p.S501N|PHLDB2_uc003dyg.3_Missense_Mutation_p.S501N|PHLDB2_uc003dyh.3_Missense_Mutation_p.S501N|PHLDB2_uc003dyi.3_Missense_Mutation_p.S87N|PHLDB2_uc003dyf.4_Missense_Mutation_p.S501N	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.	501						cytoplasm|intermediate filament cytoskeleton|plasma membrane		p.M500I(1)		breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GCCCTCATGAGCCCTGACACA	0.532000												
TMC4	147798	broad.mit.edu	37	19	54669181	54669181	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:54669181C>T	uc010erf.3	-	5	1067	c.935G>A	c.(934-936)cGc>cAc	p.R312H	TMC4_uc002qdn.3_5'Flank|TMC4_uc002qdo.3_Missense_Mutation_p.R306H	NM_001145303	NP_001138775	Q7Z404	TMC4_HUMAN	Homo sapiens transmembrane channel-like 4 (TMC4), transcript variant 1, mRNA.	312						integral to membrane				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GATGCGCTGGCGCAGCCGCAC	0.632000												
UGT2B28	54490	broad.mit.edu	37	4	70146222	70146222	+	Missense_Mutation	SNP	G	G	T	rs142644303	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:70146222G>T	uc003hej.3	+	0	6	c.4G>T	c.(4-6)Gct>Tct	p.A2S	UGT2B28_uc010ihr.3_Missense_Mutation_p.A2S	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA.	2					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	CACCAGGATGGCTCTGAAGTG	0.408000												
SUPT3H	8464	broad.mit.edu	37	6	44922276	44922276	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:44922276C>T	uc003oxp.3	-	7	815	c.649G>A	c.(649-651)Gca>Aca	p.A217T	SUPT3H_uc003oxn.1_Missense_Mutation_p.A217T|SUPT3H_uc003oxo.3_Missense_Mutation_p.A228T|SUPT3H_uc011dvv.2_Missense_Mutation_p.A65T|SUPT3H_uc011dvw.2_Missense_Mutation_p.A131T	NM_003599	NP_003590	O75486	SUPT3_HUMAN	Homo sapiens suppressor of Ty 3 homolog (S. cerevisiae) (SUPT3H), transcript variant 1, mRNA.	299					histone H3 acetylation|histone deubiquitination|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|transcription factor TFTC complex	DNA binding|transcription coactivator activity			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						ATTTCCATTGCGACAACATTG	0.398000												
TRIM22	10346	broad.mit.edu	37	11	5730360	5730360	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:5730360C>T	uc001mbr.3	+	7	1358	c.979C>T	c.(979-981)Cgc>Tgc	p.R327C	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron|TRIM22_uc010qzm.2_Missense_Mutation_p.R155C|TRIM22_uc009yes.3_Missense_Mutation_p.R323C|OR56B1_uc001mbs.1_Intron|OR56B1_uc009yev.1_Intron	NM_006074	NP_006065	Q8IYM9	TRI22_HUMAN	Homo sapiens tripartite motif containing 22 (TRIM22), transcript variant 1, mRNA.	327	B30.2/SPRY.				immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		GAAAACTGTACGCACCTGCAC	0.413000												
PHLDB1	23187	broad.mit.edu	37	11	118501928	118501928	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:118501928G>A	uc001ptr.2	+	7	2185	c.1832G>A	c.(1831-1833)cGc>cAc	p.R611H	PHLDB1_uc001pts.3_Missense_Mutation_p.R611H|PHLDB1_uc001ptt.3_Missense_Mutation_p.R611H|PHLDB1_uc001ptu.2_Intron|PHLDB1_uc001ptv.2_Missense_Mutation_p.R411H|PHLDB1_uc001ptw.2_Missense_Mutation_p.R13H|PHLDB1_uc009zai.2_5'Flank|PHLDB1_uc001ptx.2_5'Flank	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 1 (PHLDB1), transcript variant 1, mRNA.	611										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CCCCAGGAACGCCAGCGCCTG	0.632000												
FBN1	2200	broad.mit.edu	37	15	48936939	48936939	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:48936939C>T	uc001zwx.2	-	1	423	c.28G>A	c.(28-30)Gcc>Acc	p.A10T		NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	10					heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		AATCCCAGGGCGATCTCCAGC	0.687000												
PPP1CC	5501	broad.mit.edu	37	12	111169698	111169698	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:111169698A>G	uc001tru.3	-	1	335	c.64T>C	c.(64-66)Tcc>Ccc	p.S22P	PPP1CC_uc021rdx.1_Missense_Mutation_p.S22P	NM_002710	NP_002701	P36873	PP1G_HUMAN	Homo sapiens protein phosphatase 1, catalytic subunit, gamma isozyme (PPP1CC), transcript variant 1, mRNA.	22					cell division|glycogen metabolic process|mitotic prometaphase|triglyceride catabolic process	MLL5-L complex|PTW/PP1 phosphatase complex|cleavage furrow|condensed chromosome kinetochore|cytosol|midbody|nuclear speck|nucleolus	metal ion binding|protein binding|protein kinase binding|protein serine/threonine phosphatase activity			central_nervous_system(1)|large_intestine(2)|lung(3)	6						CCAGGCTTGGACCCTCTCACT	0.393000												
TTC17	55761	broad.mit.edu	37	11	43513699	43513699	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:43513699G>A	uc001mxi.3	+	22	3350	c.3280G>A	c.(3280-3282)Gtc>Atc	p.V1094I	TTC17_uc010rfj.2_Missense_Mutation_p.V1094I|TTC17_uc001mxl.3_Missense_Mutation_p.V150I	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN	Homo sapiens tetratricopeptide repeat domain 17 (TTC17), mRNA.	1094							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						TCTGGGCAATGTCTACGTGGC	0.478000												
CRYGD	1421	broad.mit.edu	37	2	209025726	209025726	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:209025726G>A	uc002vcq.4	-	2	344	c.327C>T	c.(325-327)tgC>tgT	p.C109C	CRYGD_uc021vvu.1_Intron	NM_014617	NP_055432	P07320	CRGD_HUMAN	Homo sapiens crystallin, gamma A (CRYGA), mRNA.	109	Beta/gamma crystallin 'Greek key' 3.				cellular response to reactive oxygen species|visual perception	soluble fraction	protein binding|structural constituent of eye lens			breast(1)|endometrium(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		GAACACAGGCGCAGTCATCAG	0.532000												
CBFA2T2	9139	broad.mit.edu	37	20	32199012	32199012	+	Silent	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:32199012A>G	uc002wzg.1	+	3	855	c.318A>G	c.(316-318)caA>caG	p.Q106Q	CBFA2T2_uc010zug.1_Intron|CBFA2T2_uc002wze.1_Silent_p.Q97Q|CBFA2T2_uc021wbz.1_Silent_p.Q77Q|CBFA2T2_uc002wzf.1_Non-coding_Transcript|CBFA2T2_uc002wzh.1_Silent_p.Q77Q|CBFA2T2_uc002wzi.1_Non-coding_Transcript|CBFA2T2_uc002wzj.1_Non-coding_Transcript	NM_005093	NP_001034798	O43439	MTG8R_HUMAN	Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 2 (CBFA2T2), transcript variant 2, mRNA.	106						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						CAAATCAGCAATTGCCAGCCA	0.512000												
OR2M3	127062	broad.mit.edu	37	1	248366705	248366705	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:248366705C>T	uc010pzg.2	+	0	336	c.336C>T	c.(334-336)tgC>tgT	p.C112C		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 3 (OR2M3), mRNA.	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GCTCTGAGTGCTTTCTTTTGG	0.453000												
MLLT4	4301	broad.mit.edu	37	6	168281118	168281118	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:168281118C>A	uc021zik.1	+	5	1014	c.695C>A	c.(694-696)cCt>cAt	p.P232H	MLLT4_uc003qwb.1_Missense_Mutation_p.P272H|MLLT4_uc003qwc.2_Missense_Mutation_p.P273H|MLLT4_uc021zij.1_Missense_Mutation_p.P272H|MLLT4_uc003qwf.3_5'UTR	NM_001040000	NP_001035089	P55196	AFAD_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (MLLT4), transcript variant 2, mRNA.	273					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		ACTACAGATCCTGCAGACTTT	0.388000			T	MLL	AL							
PTPRM	5797	broad.mit.edu	37	18	8343455	8343455	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:8343455G>A	uc002knn.4	+	20	3455	c.2952G>A	c.(2950-2952)agG>agA	p.R984R	PTPRM_uc010dkv.3_Silent_p.R997R|PTPRM_uc010wzl.2_Silent_p.R771R	NM_002845	NP_002836	P28827	PTPRM_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, M (PTPRM), transcript variant 2, mRNA.	984	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				ACTTCTGGAGGATGGTGTGGC	0.458000												
TNFRSF21	27242	broad.mit.edu	37	6	47253980	47253980	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:47253980A>G	uc003oyv.3	-	1	881	c.448T>C	c.(448-450)Tgt>Cgt	p.C150R		NM_014452	NP_055267	O75509	TNR21_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 21 (TNFRSF21), mRNA.	150					cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			CCCACAGGACACACCGTATGG	0.537000												
GBP6	163351	broad.mit.edu	37	1	89847396	89847396	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:89847396G>A	uc001dnf.2	+	6	1289	c.1015G>A	c.(1015-1017)Gcc>Acc	p.A339T	GBP6_uc010ost.1_Missense_Mutation_p.A209T	NM_198460	NP_940862	Q6ZN66	GBP6_HUMAN	Homo sapiens guanylate binding protein family, member 6 (GBP6), mRNA.	339							GTP binding|GTPase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		CCAGCAGATGGCCCAGCGAGT	0.587000												
CASP8AP2	9994	broad.mit.edu	37	6	90572093	90572093	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:90572093G>A	uc003pnr.3	+	6	861	c.665G>A	c.(664-666)tGc>tAc	p.C222Y	CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.3_Missense_Mutation_p.C222Y|CASP8AP2_uc011dzz.2_Missense_Mutation_p.C222Y	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN	Homo sapiens caspase 8 associated protein 2 (CASP8AP2), transcript variant 2, mRNA.	222					cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		GAGAAACACTGCACTAATGGT	0.398000												
AGPAT4	56895	broad.mit.edu	37	6	161574408	161574408	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:161574408C>T	uc003qtr.1	-	4	861	c.634G>A	c.(634-636)Gcc>Acc	p.A212T	AGPAT4_uc003qts.1_Missense_Mutation_p.A72T|AGPAT4_uc011egb.1_Intron|AGPAT4_uc003qtt.1_Non-coding_Transcript|AGPAT4_uc011egc.1_3'UTR|AGPAT4_uc011egd.1_3'UTR|AGPAT4_uc011ege.1_3'UTR	NM_020133	NP_064518	Q9NRZ5	PLCD_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta) (AGPAT4), mRNA.	212					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding	p.A212T(4)		endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		ACGGTGATGGCGAAGCCCTTG	0.622000											OREG0017775	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SLCO4C1	353189	broad.mit.edu	37	5	101592920	101592920	+	Silent	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:101592920A>G	uc003knm.3	-	7	1655	c.1368T>C	c.(1366-1368)ttT>ttC	p.F456F		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 4C1 (SLCO4C1), mRNA.	456					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		TGAACAGTGCAAACTTCATTG	0.373000												
ABCA13	154664	broad.mit.edu	37	7	48450180	48450180	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:48450180C>T	uc003toq.2	+	39	12158	c.12134C>T	c.(12133-12135)gCc>gTc	p.A4045V	ABCA13_uc010kys.1_Missense_Mutation_p.A1119V|ABCA13_uc010kyt.1_Non-coding_Transcript	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	4045	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GACCGCGTGGCCGTCCTCCAG	0.622000												
AHNAK	79026	broad.mit.edu	37	11	62298466	62298466	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:62298466G>A	uc001ntl.3	-	4	3723	c.3423C>T	c.(3421-3423)ggC>ggT	p.G1141G	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	1141					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)				CTGGGCCCTCGCCTTTGAGGC	0.532000												
EMILIN3	90187	broad.mit.edu	37	20	39993728	39993728	+	Silent	SNP	T	T	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:39993728T>A	uc002xjy.1	-	1	461	c.237A>T	c.(235-237)gtA>gtT	p.V79V		NM_052846	NP_443078	Q9NT22	EMIL3_HUMAN	Homo sapiens elastin microfibril interfacer 3 (EMILIN3), mRNA.	79	EMI.					proteinaceous extracellular matrix				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				ATTCAGCCTTTACGTAGCTCT	0.572000												
OTOF	9381	broad.mit.edu	37	2	26781400	26781400	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:26781400G>A	uc002rhk.3	-	0	167	c.40C>T	c.(40-42)Cgg>Tgg	p.R14W		NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	14					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCCTGCCCCGCAGCTCCGAG	0.652000												
SUSD2	56241	broad.mit.edu	37	22	24580172	24580172	+	Missense_Mutation	SNP	G	G	A	rs114108445	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:24580172G>A	uc002zzn.1	+	3	552	c.508G>A	c.(508-510)Ggc>Agc	p.G170S		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	Homo sapiens sushi domain containing 2 (SUSD2), mRNA.	170					immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						GCAATACTACGGCACCGCCAA	0.597000												
COMMD9	29099	broad.mit.edu	37	11	36300147	36300147	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:36300147C>T	uc001mwn.4	-	2	234	c.197G>A	c.(196-198)cGc>cAc	p.R66H	COMMD9_uc009ykj.3_Missense_Mutation_p.R24H|COMMD9_uc010rfb.1_Missense_Mutation_p.R66H	NM_014186	NP_054905	Q9P000	COMD9_HUMAN	Homo sapiens COMM domain containing 9 (COMMD9), transcript variant 1, mRNA.	66										kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	5	all_lung(20;0.211)	all_hematologic(20;0.107)				CCTAGTGAGGCGGTGCAGAGC	0.567000												
ZNF329	79673	broad.mit.edu	37	19	58640244	58640244	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:58640244G>A	uc002qrn.3	-	3	864	c.627C>T	c.(625-627)ggC>ggT	p.G209G	ZNF329_uc010euk.1_Non-coding_Transcript|ZNF329_uc002qro.1_Non-coding_Transcript|ZNF329_uc002qrp.1_Non-coding_Transcript|ZNF329_uc021vcv.1_Silent_p.G209G	NM_024620	NP_078896	Q86UD4	ZN329_HUMAN	Homo sapiens zinc finger protein 329 (ZNF329), mRNA.	209					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		TGAAGCATTTGCCACATTCAG	0.403000												
MRPL46	26589	broad.mit.edu	37	15	89002999	89002999	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:89002999C>T	uc002bmj.2	-	3	710	c.685G>A	c.(685-687)Gcc>Acc	p.A229T	MRPL46_uc002bmi.1_3'UTR	NM_022163	NP_071446	Q9H2W6	RM46_HUMAN	Homo sapiens mitochondrial ribosomal protein L46 (MRPL46), nuclear gene encoding mitochondrial protein, mRNA.	229						mitochondrion|ribosome	hydrolase activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5	Lung NSC(78;0.203)		BRCA - Breast invasive adenocarcinoma(143;0.188)			AACACCTTGGCTCCGAGGTTA	0.498000												
SLC25A12	8604	broad.mit.edu	37	2	172641950	172641950	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:172641950C>T	uc002uhh.2	-	17	1960	c.1871G>A	c.(1870-1872)cGc>cAc	p.R624H	SLC25A12_uc010fqh.2_Missense_Mutation_p.R517H	NM_003705	NP_003696	O75746	CMC1_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier, Aralar), member 12 (SLC25A12), nuclear gene encoding mitochondrial protein, mRNA.	624					gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|calcium ion binding|protein binding	p.R624H(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	GTCTGCAATGCGTGACTTAGG	0.502000												
BNC2	54796	broad.mit.edu	37	9	16738415	16738415	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:16738415T>G	uc003zml.3	-	1	212	c.72A>C	c.(70-72)caA>caC	p.Q24H	BNC2_uc011lmw.2_Intron|BNC2_uc003zmm.3_Intron|BNC2_uc003zmq.1_Missense_Mutation_p.Q38H|BNC2_uc003zmr.1_Missense_Mutation_p.Q24H|BNC2_uc003zmp.1_Missense_Mutation_p.Q24H|BNC2_uc010mij.1_Intron|BNC2_uc003zmu.1_Non-coding_Transcript|BNC2_uc010mim.1_Intron|BNC2_uc010min.1_Intron	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	Homo sapiens basonuclin 2 (BNC2), mRNA.	24					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		CTGGCCAGTCTTGCTCACTAA	0.433000												
SIN3A	25942	broad.mit.edu	37	15	75692389	75692389	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:75692389G>A	uc002bai.3	-	11	2105	c.1846C>T	c.(1846-1848)Cgc>Tgc	p.R616C	SIN3A_uc002baj.3_Missense_Mutation_p.R616C|SIN3A_uc010uml.2_Missense_Mutation_p.R616C	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN	Homo sapiens SIN3 transcription regulator homolog A (yeast) (SIN3A), transcript variant 2, mRNA.	616	Interaction with NCOR1 (By similarity).|Interactions with SUDS3 and SAP130.				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	Sin3 complex|nucleolus	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						ACCTCAAAGCGTTCATCTTCA	0.433000												
AHNAK2	113146	broad.mit.edu	37	14	105406357	105406357	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:105406357C>T	uc010axc.1	-	6	15551	c.15431G>A	c.(15430-15432)aGc>aAc	p.S5144N	AHNAK2_uc021sen.1_Missense_Mutation_p.S541N|AHNAK2_uc021seo.1_Missense_Mutation_p.S142N|AHNAK2_uc001ypx.2_Missense_Mutation_p.S5044N	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	5144						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACAAGGCTGGCTCACTGGGAC	0.582000												
SBF2	81846	broad.mit.edu	37	11	9806818	9806818	+	Silent	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:9806818T>C	uc001mib.2	-	36	5223	c.5085A>G	c.(5083-5085)ctA>ctG	p.L1695L	LOC283104_uc001mhz.1_Intron|SBF2_uc001mid.2_Silent_p.L339L|SBF2_uc001mic.2_5'UTR|BC073899_uc001mie.3_Intron	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	Homo sapiens SET binding factor 2 (SBF2), mRNA.	1695					myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		GATAGGAAGGTAGGTTGGTAG	0.498000												
PARD3	56288	broad.mit.edu	37	10	34626277	34626277	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:34626277C>T	uc010qej.2	-	16	2825	c.2495G>A	c.(2494-2496)cGc>cAc	p.R832H	PARD3_uc010qep.2_Intron|PARD3_uc010qeq.2_Missense_Mutation_p.R772H|PARD3_uc010qek.2_Missense_Mutation_p.R829H|PARD3_uc010qel.2_Missense_Mutation_p.R832H|PARD3_uc010qem.2_Missense_Mutation_p.R816H|PARD3_uc010qen.2_Intron|PARD3_uc010qeo.2_Intron|PARD3_uc001ixo.2_Missense_Mutation_p.R546H|PARD3_uc001ixr.2_Missense_Mutation_p.R829H|PARD3_uc001ixq.2_Intron|PARD3_uc001ixp.2_Intron|PARD3_uc001ixt.1_Missense_Mutation_p.R650H|PARD3_uc001ixu.2_Missense_Mutation_p.R775H|PARD3_uc001ixs.1_Intron	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog (C. elegans) (PARD3), transcript variant 1, mRNA.	832	Interacts with PRKCZ (By similarity).				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TTGCTTTGTGCGTTTTTCTGA	0.363000												
ACTR8	93973	broad.mit.edu	37	3	53905304	53905304	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:53905304C>T	uc003dhd.3	-	10	1623	c.1522G>A	c.(1522-1524)Gcc>Acc	p.A508T	ACTR8_uc003dhb.3_Missense_Mutation_p.A213T|ACTR8_uc003dhc.3_Missense_Mutation_p.A397T	NM_022899	NP_075050	Q9H981	ARP8_HUMAN	Homo sapiens ARP8 actin-related protein 8 homolog (yeast) (ACTR8), mRNA.	508					DNA recombination|DNA repair|cell division|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		AGGCCCAGGGCTTTTCCTTCA	0.532000												
KIAA1549	57670	broad.mit.edu	37	7	138593813	138593813	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:138593813C>T	uc011kql.2	-	4	3249	c.3200G>A	c.(3199-3201)cGc>cAc	p.R1067H	KIAA1549_uc011kqj.2_Missense_Mutation_p.R1067H	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	1067						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TTTCTCAATGCGCTGGGTGAA	0.458000			O	BRAF	pilocytic astrocytoma							
TMEM200C	645369	broad.mit.edu	37	18	5892007	5892007	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:5892007C>T	uc002kmx.1	-	0	97	c.56G>A	c.(55-57)cGc>cAc	p.R19H		NM_001080209	NP_001073678	A6NKL6	T200C_HUMAN	Homo sapiens transmembrane protein 200C (TMEM200C), mRNA.	19						integral to membrane		p.R19S(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						GCTTGGGGGGCGGAGTGGATC	0.602000												
LRRC4	64101	broad.mit.edu	37	7	127670230	127670230	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:127670230C>T	uc003vmk.3	-	1	601	c.464G>A	c.(463-465)cGc>cAc	p.R155H	SND1_uc003vmi.3_Intron|SND1_uc010lle.3_Intron|LRRC4_uc022akv.1_Missense_Mutation_p.R155H	NM_022143	NP_071426	Q9HBW1	LRRC4_HUMAN	Homo sapiens leucine rich repeat containing 4 (LRRC4), mRNA.	155						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		GGGGTTGTTGCGAAGCCAGAG	0.587000												
BATF	10538	broad.mit.edu	37	14	76012964	76012964	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:76012964G>A	uc001xrr.3	+	2	570	c.328G>A	c.(328-330)Gcc>Acc	p.A110T		NM_006399	NP_006390	Q16520	BATF_HUMAN	Homo sapiens basic leucine zipper transcription factor, ATF-like (BATF), mRNA.	110						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.028)		GGTGTACAGCGCCCACGCATT	0.662000												
FBXO21	23014	broad.mit.edu	37	12	117604880	117604880	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:117604880G>A	uc001twk.3	-	7	1055	c.1016C>T	c.(1015-1017)gCg>gTg	p.A339V	FBXO21_uc001twj.3_Missense_Mutation_p.A339V|FBXO21_uc009zwq.3_Intron	NM_033624	NP_296373	O94952	FBX21_HUMAN	Homo sapiens F-box protein 21 (FBXO21), transcript variant 1, mRNA.	339					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity	p.A339V(2)		breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		GTCCAGGGTCGCCCTATCCAA	0.448000												
NXF3	56000	broad.mit.edu	37	X	102339721	102339721	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:102339721C>T	uc004eju.3	-	1	190	c.119G>A	c.(118-120)gGc>gAc	p.G40D	NXF3_uc010noi.1_5'Flank|NXF3_uc011mrw.1_Missense_Mutation_p.G40D|NXF3_uc011mrx.1_Intron	NM_022052	NP_071335	Q9H4D5	NXF3_HUMAN	Homo sapiens nuclear RNA export factor 3 (NXF3), mRNA.	40						cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						AGAATGCATGCCAGGATTGAC	0.433000												
AP1B1	162	broad.mit.edu	37	22	29745285	29745285	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:29745285G>A	uc003afj.3	-	10	1546	c.1359C>T	c.(1357-1359)ggC>ggT	p.G453G	AP1B1_uc003afl.3_Silent_p.G453G|AP1B1_uc003afi.3_Silent_p.G453G|AP1B1_uc011ako.2_Silent_p.G6G	NM_001127	NP_001118	Q10567	AP1B1_HUMAN	Homo sapiens adaptor-related protein complex 1, beta 1 subunit (AP1B1), transcript variant 1, mRNA.	453					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane	protein binding|protein transporter activity	p.G453G(2)		endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CCGCGTACTCGCCCACAATCC	0.602000												
TRIM9	114088	broad.mit.edu	37	14	51560869	51560869	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:51560869G>A	uc001wyx.4	-	0	1554	c.789C>T	c.(787-789)gtC>gtT	p.V263V	TRIM9_uc001wyy.2_Silent_p.V263V|TRIM9_uc001wyz.4_Silent_p.V263V	NM_015163	NP_055978	Q9C026	TRIM9_HUMAN	Homo sapiens tripartite motif containing 9 (TRIM9), transcript variant 1, mRNA.	263					proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding	p.E262K(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					CCAGAGCCTTGACTTCGTGGC	0.552000												
TG	7038	broad.mit.edu	37	8	133898950	133898950	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:133898950C>T	uc003ytw.3	+	8	1374	c.1333C>T	c.(1333-1335)Cga>Tga	p.R445*		NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	445					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGAAGCCATCCGAGCAATTTT	0.498000												
HMBOX1	79618	broad.mit.edu	37	8	28876412	28876412	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:28876412G>A	uc003xhd.4	+	5	1175	c.833G>A	c.(832-834)tGc>tAc	p.C278Y	HMBOX1_uc010lvd.3_Missense_Mutation_p.C278Y|HMBOX1_uc010lve.3_Non-coding_Transcript|HMBOX1_uc003xhe.3_Missense_Mutation_p.C278Y|HMBOX1_uc011lay.2_Missense_Mutation_p.C278Y|HMBOX1_uc003xhg.3_Missense_Mutation_p.C266Y|HMBOX1_uc003xhf.3_Missense_Mutation_p.C266Y	NM_001135726	NP_078843	Q6NT76	HMBX1_HUMAN	Homo sapiens homeobox containing 1 (HMBOX1), transcript variant 2, mRNA.	278					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	11		Ovarian(32;0.0192)		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)		AGAAAGGAGTGCCTGGCTGTT	0.483000												
KRT27	342574	broad.mit.edu	37	17	38936056	38936056	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:38936056C>A	uc002hvg.3	-	3	783	c.742G>T	c.(742-744)Gcc>Tcc	p.A248S		NM_181537	NP_853515	Q7Z3Y8	K1C27_HUMAN	Homo sapiens keratin 27 (KRT27), mRNA.	248	Linker 12.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				ACCCCGGGGGCCGCGTTCATC	0.527000												
CADPS2	93664	broad.mit.edu	37	7	122261687	122261687	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:122261687C>T	uc022akp.1	-	4	1374	c.952G>A	c.(952-954)Gcc>Acc	p.A318T	CADPS2_uc003vkg.4_Missense_Mutation_p.A18T|CADPS2_uc022akq.1_Missense_Mutation_p.A318T|CADPS2_uc010lkq.3_Missense_Mutation_p.A318T|CADPS2_uc022akr.1_Missense_Mutation_p.A318T	NM_001167940	NP_001161412	Q86UW7	CAPS2_HUMAN	Homo sapiens Ca++-dependent secretion activator 2 (CADPS2), transcript variant 3, mRNA.	318					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						TCCAAATTGGCCATTAGCAAA	0.328000												
PI4KA	5297	broad.mit.edu	37	22	21062348	21062348	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:21062348T>C	uc002zsz.4	-	54	6383	c.6122A>G	c.(6121-6123)gAc>gGc	p.D2041G	PI4KA_uc002zsy.4_Missense_Mutation_p.D851G	NM_058004	NP_477352	P42356	PI4KA_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha (PI4KA), transcript variant 1, mRNA.	2041					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			GTAGGGGATGTCATTCTGATA	0.612000												
SRRT	51593	broad.mit.edu	37	7	100485018	100485018	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:100485018G>A	uc003uwy.2	+	15	2320	c.2053G>A	c.(2053-2055)Gcc>Acc	p.A685T	SRRT_uc010lhl.1_Missense_Mutation_p.A684T|SRRT_uc003uxa.2_Missense_Mutation_p.A684T|SRRT_uc003uwz.2_Missense_Mutation_p.A685T	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN	Homo sapiens serrate RNA effector molecule homolog (Arabidopsis) (SRRT), transcript variant 1, mRNA.	685					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						AGAGGAAGAGGCCCAGAAGAT	0.562000												
PCYT1B	9468	broad.mit.edu	37	X	24690692	24690692	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:24690692G>A	uc004dbj.3	-	0	288	c.58C>T	c.(58-60)Cgc>Tgc	p.R20C		NM_001163264	NP_001156736	Q9Y5K3	PCY1B_HUMAN	Homo sapiens phosphate cytidylyltransferase 1, choline, beta (PCYT1B), transcript variant 2, mRNA.	38						endoplasmic reticulum	choline-phosphate cytidylyltransferase activity	p.S19F(1)		breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	ATTACCTTGCGCCACAATTGG	0.413000												
PLD2	5338	broad.mit.edu	37	17	4713066	4713066	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:4713066G>A	uc002fzc.3	+	7	821	c.695G>A	c.(694-696)cGc>cAc	p.R232H	PLD2_uc010vsj.2_Missense_Mutation_p.R89H|PLD2_uc002fzd.3_Missense_Mutation_p.R232H	NM_002663	NP_002654	O14939	PLD2_HUMAN	Homo sapiens phospholipase D2 (PLD2), transcript variant 1, mRNA.	232	PH.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	GTTTGTTATCGCTGGTCCAAG	0.592000												
RBP5	83758	broad.mit.edu	37	12	7280857	7280857	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:7280857G>A	uc001qsq.3	-	1	326	c.231C>T	c.(229-231)agC>agT	p.S77S	CLSTN3_uc001qsr.3_5'Flank	NM_031491	NP_113679	P82980	RET5_HUMAN	Homo sapiens retinol binding protein 5, cellular (RBP5), mRNA.	77						cytoplasm	retinal binding|retinol binding|transporter activity			autonomic_ganglia(1)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)	10					Vitamin A(DB00162)	GTCCGTCCACGCTCCTGAGGT	0.557000												
PRICKLE2	166336	broad.mit.edu	37	3	64084864	64084864	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:64084864G>A	uc003dmf.3	-	7	2984	c.2398C>T	c.(2398-2400)Cgc>Tgc	p.R800C		NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN	Homo sapiens prickle homolog 2 (Drosophila) (PRICKLE2), mRNA.	800						cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		TATCGCAGGCGCGCTGGCTGG	0.557000												
UPF1	5976	broad.mit.edu	37	19	18974986	18974986	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:18974986G>A	uc002nkg.3	+	19	3091	c.2816G>A	c.(2815-2817)cGc>cAc	p.R939H	UPF1_uc002nkf.3_Missense_Mutation_p.R928H|UPF1_uc002nkh.3_Missense_Mutation_p.R183H	NM_002911	NP_002902	Q92900	RENT1_HUMAN	Homo sapiens UPF1 regulator of nonsense transcripts homolog (yeast) (UPF1), mRNA.	939					DNA repair|DNA replication|cell cycle|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|RNA binding|chromatin binding|protein binding|zinc ion binding	p.R928L(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						CAGGGAGCCCGCTTCATGACC	0.597000												
EXOC8	149371	broad.mit.edu	37	1	231471819	231471819	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:231471819T>C	uc001huq.3	-	0	1760	c.1673A>G	c.(1672-1674)tAc>tGc	p.Y558C		NM_175876	NP_787072	Q8IYI6	EXOC8_HUMAN	Homo sapiens exocyst complex component 8 (EXOC8), mRNA.	558					exocytosis|protein transport	growth cone|nucleus	protein binding	p.Y558*(1)		cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				GATTTCTTTGTAACTGTGCAA	0.483000												
LRRK1	79705	broad.mit.edu	37	15	101567506	101567506	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:101567506C>T	uc002bwr.3	+	17	2765	c.2446C>T	c.(2446-2448)Cga>Tga	p.R816*	LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.	816	Roc.				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)			GGAAGGGCTGCGACAGCTGAT	0.592000												
CYP7A1	1581	broad.mit.edu	37	8	59409213	59409213	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:59409213C>T	uc003xtm.4	-	2	921	c.858G>A	c.(856-858)tcG>tcA	p.S286S		NM_000780	NP_000771	P22680	CP7A1_HUMAN	Homo sapiens cytochrome P450, family 7, subfamily A, polypeptide 1 (CYP7A1), mRNA.	286					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding	p.S286L(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				TGTTTGCTTGCGATGCCCAGA	0.423000									Neonatal Giant Cell Hepatitis			
MSH4	4438	broad.mit.edu	37	1	76272778	76272778	+	Missense_Mutation	SNP	C	C	A	rs144700439	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:76272778C>A	uc001dhd.2	+	2	655	c.540C>A	c.(538-540)aaC>aaA	p.N180K		NM_002440	NP_002431	O15457	MSH4_HUMAN	Homo sapiens mutS homolog 4 (E. coli) (MSH4), mRNA.	180					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	p.N180K(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						ATTTAAAAAACCCCCAAATTA	0.393000								Mismatch excision repair (MMR)				
SMARCA2	6595	broad.mit.edu	37	9	2058432	2058432	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:2058432C>T	uc003zhc.3	+	7	1588	c.1489C>T	c.(1489-1491)Cgg>Tgg	p.R497W	SMARCA2_uc003zhd.3_Missense_Mutation_p.R497W|SMARCA2_uc010mha.3_Missense_Mutation_p.R488W	NM_003070	NP_003061	P51531	SMCA2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 (SMARCA2), transcript variant 1, mRNA.	497	HSA.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	SWI/SNF complex|WINAC complex|intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm	ATP binding|DNA-dependent ATPase activity|RNA polymerase II transcription coactivator activity|helicase activity|protein binding|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		GGAGACAGAGCGGATTGAAAA	0.512000												
ARAP2	116984	broad.mit.edu	37	4	36179566	36179566	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:36179566C>T	uc003gsq.2	-	8	2078	c.1740G>A	c.(1738-1740)tcG>tcA	p.S580S	ARAP2_uc003gsr.1_Silent_p.S580S	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	580					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						CTTGAGACTGCGAGGTAAGGG	0.378000												
BMP1	649	broad.mit.edu	37	8	22053019	22053019	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:22053019C>T	uc003xbg.3	+	12	1950	c.1684C>T	c.(1684-1686)Cgg>Tgg	p.R562W	BMP1_uc003xbf.3_Missense_Mutation_p.R311W|BMP1_uc003xbb.3_Missense_Mutation_p.R562W|BMP1_uc003xbc.3_Missense_Mutation_p.R311W|BMP1_uc003xbd.3_Non-coding_Transcript|BMP1_uc003xbe.3_Non-coding_Transcript|BMP1_uc011kzc.2_Missense_Mutation_p.R311W|BMP1_uc003xbh.3_Non-coding_Transcript|BMP1_uc003xbi.3_Non-coding_Transcript	NM_006129	NP_006120	P13497	BMP1_HUMAN	Homo sapiens bone morphogenetic protein 1 (BMP1), transcript variant 3, mRNA.	562	EGF-like 1; calcium-binding (Potential).				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CTGTGAGCAGCGGTGCCTCAA	0.647000												
C6orf10	10665	broad.mit.edu	37	6	32261736	32261736	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:32261736G>A	uc021yvt.1	-	22	887	c.714C>T	c.(712-714)ggC>ggT	p.G238G	C6orf10_uc011dpx.2_Silent_p.G229G|C6orf10_uc021yvs.1_Silent_p.G155G|C6orf10_uc011dpz.2_Silent_p.G236G|C6orf10_uc021yvu.1_Silent_p.G236G|C6orf10_uc021yvv.1_Silent_p.G222G	NM_006781	NP_006772	Q5SRN2	CF010_HUMAN	Homo sapiens chromosome 6 open reading frame 10 (C6orf10), mRNA.	238						integral to membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						ACCTTGCAGTGCCTCCACATT	0.368000												
SLC24A3	57419	broad.mit.edu	37	20	19674014	19674014	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:19674014C>T	uc002wrl.3	+	12	1633	c.1436C>T	c.(1435-1437)aCg>aTg	p.T479M		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA.	479						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TTCATGGTGACGTTTGCTTCC	0.517000												
MTCH1	23787	broad.mit.edu	37	6	36938207	36938207	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:36938207C>T	uc003one.4	-	9	997	c.997G>A	c.(997-999)Gac>Aac	p.D333N	MTCH1_uc003onc.1_Missense_Mutation_p.D316N|MTCH1_uc010jwo.1_Non-coding_Transcript|MTCH1_uc003ond.1_Missense_Mutation_p.D333N|MTCH1_uc011dtt.2_Missense_Mutation_p.D148N	NM_014341	NP_055156	Q9NZJ7	MTCH1_HUMAN	Homo sapiens mitochondrial carrier 1 (MTCH1), nuclear gene encoding mitochondrial protein, mRNA.	333					activation of caspase activity|neuronal ion channel clustering|positive regulation of apoptosis|regulation of signal transduction|transport	integral to membrane|mitochondrial inner membrane	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						GCCATGAGGTCGCCAACTAGC	0.622000												
PPEF1	5475	broad.mit.edu	37	X	18824564	18824564	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:18824564G>A	uc004cyq.3	+	14	1776	c.1295G>A	c.(1294-1296)aGc>aAc	p.S432N	PPEF1_uc004cyp.3_Missense_Mutation_p.S404N|PPEF1_uc004cyr.3_Missense_Mutation_p.S370N|PPEF1_uc004cys.3_Missense_Mutation_p.S432N|PPEF1_uc011mja.2_Missense_Mutation_p.S367N|PPEF1_uc011mjb.2_Missense_Mutation_p.S376N	NM_006240	NP_006231	O14829	PPE1_HUMAN	Homo sapiens protein phosphatase, EF-hand calcium binding domain 1 (PPEF1), transcript variant 1, mRNA.	432	Catalytic.				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					GAAGAAGGCAGCAATCGAGGA	0.403000												
PHPT1	29085	broad.mit.edu	37	9	139744537	139744537	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:139744537G>A	uc004cjq.4	+	1	860	c.233G>A	c.(232-234)cGc>cAc	p.R78H	PHPT1_uc011mei.2_Missense_Mutation_p.R78H|MAMDC4_uc004cjs.3_5'Flank|MAMDC4_uc011mej.2_5'Flank	NM_014172	NP_054891	Q9NRX4	PHP14_HUMAN	Homo sapiens phosphohistidine phosphatase 1 (PHPT1), transcript variant 3, mRNA.	78						cytosol	phosphohistidine phosphatase activity|phosphoprotein phosphatase activity			NS(1)|large_intestine(1)|lung(1)	3	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		GGCGGCGGGCGCATCTCCCAC	0.637000												
AGAP1	116987	broad.mit.edu	37	2	236653360	236653360	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:236653360G>A	uc002vvs.3	+	4	1013	c.415G>A	c.(415-417)Gct>Act	p.A139T	AGAP1_uc002vvt.3_Missense_Mutation_p.A139T|AGAP1_uc021vyp.1_Missense_Mutation_p.A139T	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 (AGAP1), transcript variant 1, mRNA.	139	Small GTPase-like.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						GTGGGTGGACGCTGTTATATT	0.502000												
PHF20	51230	broad.mit.edu	37	20	34526851	34526851	+	Missense_Mutation	SNP	C	C	T	rs144252568		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:34526851C>T	uc002xek.1	+	15	2644	c.2533C>T	c.(2533-2535)Cgc>Tgc	p.R845C		NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN	Homo sapiens PHD finger protein 20 (PHF20), mRNA.	845					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					CCAGAAGCCCCGCGCCTATTA	0.622000												
QRICH1	54870	broad.mit.edu	37	3	49114337	49114337	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:49114337C>T	uc010hkq.3	-	2	410	c.114G>A	c.(112-114)ggG>ggA	p.G38G	QRICH1_uc003cvu.3_Silent_p.G38G|QRICH1_uc003cvv.3_Silent_p.G38G	NM_198880	NP_942581	Q2TAL8	QRIC1_HUMAN	Homo sapiens glutamine-rich 1 (QRICH1), transcript variant 2, mRNA.	38	CARD.									breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GGGCTTCTGGCCCCTTAGAGG	0.527000												
LMO1	4004	broad.mit.edu	37	11	8248591	8248591	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:8248591T>C	uc001mgg.1	-	2	793	c.296A>G	c.(295-297)gAg>gGg	p.E99G	LMO1_uc009yfo.1_Non-coding_Transcript|LMO1_uc001mgh.1_Missense_Mutation_p.E98G	NM_002315	NP_002306	P25800	RBTN1_HUMAN	Homo sapiens LIM domain only 1 (rhombotin 1) (LMO1), mRNA.	99	LIM zinc-binding 2.				cell proliferation|multicellular organismal development|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|skin(1)	5				Epithelial(150;1.59e-07)|BRCA - Breast invasive adenocarcinoma(625;0.203)		CATCACCATCTCGAAGGCTGG	0.612000			"""T, A"""	TRD@	"""T-ALL, neuroblastoma"""	neuroblastoma						
KIAA0947	23379	broad.mit.edu	37	5	5489418	5489418	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:5489418C>T	uc003jdm.4	+	18	6998	c.6776C>T	c.(6775-6777)gCc>gTc	p.A2259V		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	Homo sapiens KIAA0947 (KIAA0947), mRNA.	2259										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						GAAGTCAGTGCCCTGAGCACA	0.502000												
PHKG2	5261	broad.mit.edu	37	16	30768236	30768236	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:30768236C>T	uc002dzk.2	+	9	1249	c.1039C>T	c.(1039-1041)Cgg>Tgg	p.R347W	PHKG2_uc021tgo.1_Missense_Mutation_p.R347W	NM_000294	NP_000285	P15735	PHKG2_HUMAN	Homo sapiens phosphorylase kinase, gamma 2 (testis) (PHKG2), transcript variant 1, mRNA.	347	Calmodulin-binding (domain-C) (By similarity).				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			ovary(1)|skin(1)	2			Colorectal(24;0.198)			GCGGTCAGTGCGGCACCTCAT	0.622000												
CRIM1	51232	broad.mit.edu	37	2	36704131	36704131	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:36704131C>T	uc002rpd.3	+	5	1157	c.1091C>T	c.(1090-1092)gCc>gTc	p.A364V		NM_016441	NP_057525	Q9NZV1	CRIM1_HUMAN	Homo sapiens cysteine rich transmembrane BMP regulator 1 (chordin-like) (CRIM1), mRNA.	364	VWFC 1.				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				GGGGGCGTTGCCATCTGCTTC	0.498000												
TSHZ1	10194	broad.mit.edu	37	18	72999371	72999371	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:72999371C>T	uc002lly.3	+	1	2437	c.1874C>T	c.(1873-1875)gCg>gTg	p.A625V	TSHZ1_uc021uln.1_Missense_Mutation_p.A625V	NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	Homo sapiens teashirt zinc finger homeobox 1 (TSHZ1), mRNA.	670						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		GCCAAGGCTGCGTCCCCCATA	0.562000												
RPS6	6194	broad.mit.edu	37	9	19379526	19379526	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:19379526C>T	uc003znv.1	-	1	139	c.97G>A	c.(97-99)Gcc>Acc	p.A33T	RPS6_uc003znw.1_Missense_Mutation_p.A2T	NM_001010	NP_001001	P62753	RS6_HUMAN	Homo sapiens ribosomal protein S6 (RPS6), mRNA.	33					TOR signaling cascade|endocrine pancreas development|glucose homeostasis|insulin receptor signaling pathway|positive regulation of apoptosis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding			endometrium(3)|lung(2)|ovary(1)|urinary_tract(1)	7		Colorectal(97;3.46e-05)|Myeloproliferative disorder(762;0.0255)		Lung(42;0.161)|LUSC - Lung squamous cell carcinoma(42;0.234)		ACTTCTGTGGCCATACGCTTC	0.453000												
PITPNM3	83394	broad.mit.edu	37	17	6358942	6358942	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:6358942C>T	uc002gdd.4	-	19	2792	c.2641G>A	c.(2641-2643)Gca>Aca	p.A881T	PITPNM3_uc010cln.3_Missense_Mutation_p.A845T|PITPNM3_uc010clm.3_Missense_Mutation_p.A364T|PITPNM3_uc002gdc.4_Missense_Mutation_p.A472T	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN	Homo sapiens PITPNM family member 3 (PITPNM3), transcript variant 1, mRNA.	881					phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		GCCAGGTGTGCGGCGTAGCCC	0.706000												
INSRR	3645	broad.mit.edu	37	1	156812271	156812271	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:156812271G>A	uc010pht.2	-	17	3455	c.3156C>T	c.(3154-3156)ggC>ggT	p.G1052G	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	1052	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GAGTTGGCTGGCCCTGAGATA	0.567000												
MLL5	55904	broad.mit.edu	37	7	104747108	104747108	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:104747108G>A	uc003vcm.3	+	19	3270	c.2736G>A	c.(2734-2736)acG>acA	p.T912T	MLL5_uc010ljc.3_Silent_p.T912T|MLL5_uc010lje.1_Intron|MLL5_uc010ljf.1_5'Flank|MLL5_uc010ljg.3_5'Flank|MLL5_uc010ljh.1_5'Flank	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila) (MLL5), transcript variant 1, mRNA.	912					DNA methylation|cell cycle arrest|cellular response to retinoic acid|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(13)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	63						CTTTTGCCACGCCTCCACGGA	0.443000												
PKM2	5315	broad.mit.edu	37	15	72494822	72494822	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:72494822G>A	uc002aty.2	-	8	1564	c.1280C>T	c.(1279-1281)gCc>gTc	p.A427V	PKM2_uc002atr.1_5'UTR|PKM2_uc010bit.1_Intron|PKM2_uc010uki.2_Intron|PKM2_uc002atx.2_Intron|PKM2_uc002atw.2_Intron|PKM2_uc010ukj.2_Missense_Mutation_p.A412V|PKM2_uc010ukk.2_Missense_Mutation_p.A353V|PKM2_uc002atv.2_Intron|PKM2_uc010biu.1_Intron	NM_002654	NP_002645	P14618	KPYM_HUMAN	Homo sapiens pyruvate kinase, muscle (PKM2), transcript variant 1, mRNA.	427	Interaction with POU5F1.|Intersubunit contact.				glycolysis|programmed cell death	cytosol|nucleus|plasma membrane	ATP binding|magnesium ion binding|potassium ion binding|protein binding|pyruvate kinase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|prostate(1)	13					Pyruvic acid(DB00119)	GACGATTATGGCCCCACTGCA	0.642000												
ZFHX4	79776	broad.mit.edu	37	8	77766285	77766285	+	Silent	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:77766285T>C	uc003yau.2	+	9	7515	c.7128T>C	c.(7126-7128)gcT>gcC	p.A2376A	ZFHX4_uc003yaw.1_Silent_p.A2331A	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2331	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CTAAAAACGCTGCTGCCCCTG	0.517000										HNSCC(33;0.089)		
ARHGEF10	9639	broad.mit.edu	37	8	1814720	1814720	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:1814720G>A	uc003wpr.3	+	5	752	c.574G>A	c.(574-576)Gca>Aca	p.A192T	ARHGEF10_uc003wpq.1_Missense_Mutation_p.A217T|ARHGEF10_uc003wps.3_Missense_Mutation_p.A193T|ARHGEF10_uc003wpt.3_Missense_Mutation_p.A107T|ARHGEF10_uc010lrd.2_Missense_Mutation_p.A107T|ARHGEF10_uc003wpu.3_Missense_Mutation_p.A106T|ARHGEF10_uc022aqp.1_5'Flank	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10 (ARHGEF10), mRNA.	217					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	Rho guanyl-nucleotide exchange factor activity|kinesin binding			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		AGAGGACAGCGCACTTGCCCG	0.562000												
CD248	57124	broad.mit.edu	37	11	66083274	66083274	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:66083274C>T	uc001ohm.1	-	0	1242	c.1225G>A	c.(1225-1227)Gcc>Acc	p.A409T		NM_020404	NP_065137	Q9HCU0	CD248_HUMAN	Homo sapiens CD248 molecule, endosialin (CD248), mRNA.	409	Pro-rich.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	GGTCTATAGGCCAGGGCAAAG	0.642000												
LMX1A	4009	broad.mit.edu	37	1	165322399	165322399	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:165322399G>A	uc001gcz.2	-	2	371	c.177C>T	c.(175-177)tgC>tgT	p.C59C	LMX1A_uc021pdz.1_Silent_p.C59C	NM_001174069	NP_796372	Q8TE12	LMX1A_HUMAN	Homo sapiens LIM homeobox transcription factor 1, alpha (LMX1A), transcript variant 4, mRNA.	59	LIM zinc-binding 1.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q58K(1)		NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					CGCACTGCACGCACTGCTCAT	0.592000												
FABP3	2170	broad.mit.edu	37	1	31838774	31838774	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:31838774C>T	uc001bss.1	-	3	423	c.361G>A	c.(361-363)Ggc>Agc	p.G121S		NM_004102	NP_004093	P05413	FABPH_HUMAN	Homo sapiens fatty acid binding protein 3, muscle and heart (mammary-derived growth inhibitor) (FABP3), mRNA.	121					negative regulation of cell proliferation					large_intestine(1)|lung(2)|ovary(2)	5		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0185)|READ - Rectum adenocarcinoma(331;0.149)		ACTGCAGTGCCGTGGGTGAGT	0.542000												
PCDHB9	56127	broad.mit.edu	37	5	140569104	140569104	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:140569104A>G	uc003liw.1	+	1	2210	c.2210A>G	c.(2209-2211)gAc>gGc	p.D737G	PCDHB10_uc003lix.3_5'Flank	NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	Homo sapiens protocadherin beta 9 (PCDHB9), mRNA.	738					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding							KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CATCTGGTGGACGTGAGCGGC	0.637000												
TRIM33	51592	broad.mit.edu	37	1	114967378	114967378	+	Splice_Site	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:114967378C>T	uc001eew.3	-	10	1780	c.1696_splice	c.e10-1	p.P566_splice	TRIM33_uc010owr.2_Splice_Site_p.P156_splice|TRIM33_uc010ows.2_Splice_Site_p.P174_splice|TRIM33_uc001eex.3_Splice_Site_p.P566_splice	NM_015906	NP_056990	Q9UPN9	TRI33_HUMAN	Homo sapiens tripartite motif containing 33 (TRIM33), transcript variant a, mRNA.	566					negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	DNA binding|R-SMAD binding|co-SMAD binding|ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|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)		ATCGAGGAGGCTACAAAAAGT	0.328000			T	RET	papillary thyroid							
BEST3	144453	broad.mit.edu	37	12	70087555	70087555	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:70087555G>A	uc001svg.3	-	3	607	c.380C>T	c.(379-381)aCg>aTg	p.T127M	BEST3_uc001svd.2_Missense_Mutation_p.T127M|BEST3_uc010stm.2_Missense_Mutation_p.T21M|BEST3_uc001svi.1_Non-coding_Transcript	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	Homo sapiens bestrophin 3 (BEST3), transcript variant 1, mRNA.	127						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GCGCATCAGCGTCCTTCTAAG	0.532000												
DSC2	1824	broad.mit.edu	37	18	28662238	28662238	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:28662238G>A	uc002kwl.4	-	8	1683	c.1229C>T	c.(1228-1230)gCc>gTc	p.A410V	DSC2_uc002kwk.4_Missense_Mutation_p.A410V	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	410	Cadherin 3.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			ATTGGTTTTGGCATCTGTTAC	0.299000												
DNAJC5	80331	broad.mit.edu	37	20	62560765	62560765	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:62560765G>A	uc002yhf.3	+	2	441	c.208G>A	c.(208-210)Gcc>Acc	p.A70T	DNAJC5_uc002yhh.3_Non-coding_Transcript	NM_025219	NP_079495	Q9H3Z4	DNJC5_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 5 (DNAJC5), mRNA.	70	J.				neurotransmitter secretion|protein folding	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|melanosome|plasma membrane	heat shock protein binding|unfolded protein binding			cervix(1)|endometrium(1)|lung(1)|pancreas(1)|upper_aerodigestive_tract(1)	5	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CCTCACGGACGCCACAAAAAG	0.557000												
SLC4A11	83959	broad.mit.edu	37	20	3210034	3210034	+	Missense_Mutation	SNP	C	C	T	rs138262189		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:3210034C>T	uc010zqe.2	-	14	2061	c.1936G>A	c.(1936-1938)Gcc>Acc	p.A646T	SLC4A11_uc002wig.3_Missense_Mutation_p.A619T|SLC4A11_uc002wih.3_Non-coding_Transcript|SLC4A11_uc010zqf.2_Missense_Mutation_p.A603T	NM_001174090	NP_001167561	Q8NBS3	S4A11_HUMAN	Homo sapiens solute carrier family 4, sodium borate transporter, member 11 (SLC4A11), transcript variant 1, mRNA.	619	Membrane (bicarbonate transporter).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						AGGGAGAAGGCGAGCACCGCG	0.662000												
PCDHAC2	56134	broad.mit.edu	37	5	140237080	140237080	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:140237080G>A	uc003lhx.2	+	0	1447	c.1447G>A	c.(1447-1449)Gcg>Acg	p.A483T	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Missense_Mutation_p.A483T|PCDHAC2_uc011dad.2_Missense_Mutation_p.A483T	NM_018901	NP_061724	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.	498	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.A483T(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACGCGGACGCGCAGGAGAA	0.662000												
ZNF519	162655	broad.mit.edu	37	18	14105249	14105249	+	Missense_Mutation	SNP	T	T	A	rs144389001	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:14105249T>A	uc002kst.2	-	2	1503	c.1290A>T	c.(1288-1290)aaA>aaT	p.K430N	ZNF519_uc002ksr.2_Intron|ZNF519_uc002ksq.2_Intron	NM_145287	NP_660330	Q8TB69	ZN519_HUMAN	Homo sapiens zinc finger protein 519 (ZNF519), transcript variant 1, mRNA.	430					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						ATTTGAAGTGTTTCTCTCCAG	0.408000												
TTF1	7270	broad.mit.edu	37	9	135275547	135275547	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:135275547G>A	uc004cbl.3	-	2	1535	c.1466C>T	c.(1465-1467)gCg>gTg	p.A489V	TTF1_uc004cbm.3_5'UTR|TTF1_uc011mcp.2_Non-coding_Transcript	NM_007344	NP_031370	Q15361	TTF1_HUMAN	Homo sapiens transcription termination factor, RNA polymerase I (TTF1), transcript variant 1, mRNA.	489					negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		ACCCAAATCCGCATCTGAATC	0.463000												
IQCG	84223	broad.mit.edu	37	3	197618384	197618384	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:197618384C>T	uc003fyo.3	-	9	1276	c.1130G>A	c.(1129-1131)cGt>cAt	p.R377H	IQCG_uc003fyn.3_Missense_Mutation_p.R279H|IQCG_uc003fyp.3_Missense_Mutation_p.R377H	NM_001134435	NP_115639	Q9H095	IQCG_HUMAN	Homo sapiens IQ motif containing G (IQCG), transcript variant 2, mRNA.	377										autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		CTTTTCTATACGATCTTCAAT	0.398000												
CDKL5	6792	broad.mit.edu	37	X	18668576	18668576	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:18668576C>T	uc004cym.3	+	19	3097	c.2844C>T	c.(2842-2844)tgC>tgT	p.C948C	CDKL5_uc004cyn.3_Silent_p.C948C|RS1_uc004cyo.3_Intron	NM_003159	NP_003150	O76039	CDKL5_HUMAN	Homo sapiens cyclin-dependent kinase-like 5 (CDKL5), transcript variant I, mRNA.	948					neuron migration|positive regulation of Rac GTPase activity|positive regulation of axon extension|positive regulation of dendrite morphogenesis|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|Rac GTPase binding|cyclin-dependent protein kinase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					ACACTCCGTGCGTCCCAAACC	0.577000												
ZNF558	148156	broad.mit.edu	37	19	8932718	8932718	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:8932718G>A	uc002mkn.1	-	1	311	c.81C>T	c.(79-81)ggC>ggT	p.G27G	ZNF558_uc010xkh.1_5'Flank|ZNF558_uc010dwg.1_Silent_p.G27G	NM_144693	NP_653294	Q96NG5	ZN558_HUMAN	Homo sapiens zinc finger protein 558 (ZNF558), mRNA.	27					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						CCAGCTCTCCGCCCTGTGTGT	0.512000												
PSMB2	5690	broad.mit.edu	37	1	36074953	36074953	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:36074953C>T	uc001bzd.2	-	3	754	c.342G>A	c.(340-342)gcG>gcA	p.A114A	PSMB2_uc021olh.1_5'UTR|PSMB2_uc010ohz.2_Silent_p.A89A|PSMB2_uc001bzf.2_Silent_p.A114A	NM_002794	NP_002785	P49721	PSB2_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, beta type, 2 (PSMB2), transcript variant 1, mRNA.	114					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|interspecies interaction between organisms|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(1)|large_intestine(2)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)			Bortezomib(DB00188)	TGTAATACAGCGCTGGCCCTT	0.512000												
YIF1B	90522	broad.mit.edu	37	19	38799966	38799966	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:38799966G>A	uc002ohz.2	-	2	349	c.300C>T	c.(298-300)atC>atT	p.I100I	YIF1B_uc002ohw.2_Silent_p.I69I|YIF1B_uc002ohx.2_Silent_p.I85I|YIF1B_uc010xtx.1_Silent_p.I83I|YIF1B_uc010xty.1_Silent_p.I69I|YIF1B_uc002oia.2_Silent_p.I97I|YIF1B_uc002ohy.2_Silent_p.I97I|YIF1B_uc002oib.3_Silent_p.I97I	NM_001039672	NP_001034761	Q5BJH7	YIF1B_HUMAN	Homo sapiens Yip1 interacting factor homolog B (S. cerevisiae) (YIF1B), transcript variant 5, mRNA.	100						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)	10	all_cancers(60;1.07e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TGAAGCGGTCGATCTGGGGAG	0.587000												
CDC5L	988	broad.mit.edu	37	6	44376319	44376319	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:44376319G>A	uc003oxl.3	+	7	1352	c.1042G>A	c.(1042-1044)Gtt>Att	p.V348I		NM_001253	NP_001244	Q99459	CDC5L_HUMAN	Homo sapiens CDC5 cell division cycle 5-like (S. pombe) (CDC5L), mRNA.	348	Interaction with PPP1R8.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CAACAACAGCGTTGCTCTTAG	0.443000												
HIC2	23119	broad.mit.edu	37	22	21799218	21799218	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:21799218G>A	uc002zur.4	+	2	264	c.34G>A	c.(34-36)Gcg>Acg	p.A12T	HIC2_uc002zus.4_Missense_Mutation_p.A12T	NM_015094	NP_055909	Q96JB3	HIC2_HUMAN	Homo sapiens hypermethylated in cancer 2 (HIC2), mRNA.	12					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				CAGGTGGTGCGCGTGGGCAGG	0.672000												
NRN1	51299	broad.mit.edu	37	6	6002648	6002648	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:6002648G>A	uc003mwu.3	-	1	789	c.138C>T	c.(136-138)ggC>ggT	p.G46G	NRN1_uc021ykx.1_Non-coding_Transcript	NM_016588	NP_057672	Q9NPD7	NRN1_HUMAN	Homo sapiens neuritin 1 (NRN1), mRNA.	46						anchored to membrane|plasma membrane				endometrium(2)|large_intestine(2)|lung(4)	8	Ovarian(93;0.0816)	all_hematologic(90;0.151)		OV - Ovarian serous cystadenocarcinoma(45;0.00415)		CCATGCTGTCGCCCAGCTTGA	0.607000												
KCNH8	131096	broad.mit.edu	37	3	19190212	19190212	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:19190212A>T	uc003cbk.1	+	0	196	c.1A>T	c.(1-3)Atg>Ttg	p.M1L	KCNH8_uc011awe.1_Missense_Mutation_p.M1L|KCNH8_uc010hex.1_5'UTR	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 8 (KCNH8), mRNA.	1						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						CGCTGGAAAAATGCCGGTTAT	0.502000												
NOTCH2	4853	broad.mit.edu	37	1	120462077	120462077	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:120462077G>A	uc001eik.3	-	30	5936	c.5639C>T	c.(5638-5640)gCc>gTc	p.A1880V		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	1880					Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.M1879I(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAGGTGCAGGGCCATCTCACC	0.592000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome			
KCNG2	26251	broad.mit.edu	37	18	77659090	77659090	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:77659090C>T	uc010xfl.2	+	1	675	c.675C>T	c.(673-675)tgC>tgT	p.C225C		NM_012283	NP_036415	Q9UJ96	KCNG2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 2 (KCNG2), mRNA.	225					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		AGACCGTGTGCGTGGCCTGGT	0.682000												
DPP6	1804	broad.mit.edu	37	7	154561150	154561150	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:154561150G>A	uc003wlk.3	+	8	1036	c.907G>A	c.(907-909)Gca>Aca	p.A303T	DPP6_uc003wli.3_Missense_Mutation_p.A239T|DPP6_uc003wlm.3_Missense_Mutation_p.A241T|DPP6_uc011kvq.2_Missense_Mutation_p.A196T	NM_130797	NP_570629	P42658	DPP6_HUMAN	Homo sapiens dipeptidyl-peptidase 6 (DPP6), transcript variant 1, mRNA.	303					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)			GACACACATCGCACACTGGTG	0.507000												
APC	324	broad.mit.edu	37	5	112137021	112137021	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:112137021C>T	uc003kpz.4	+	8	968	c.775C>T	c.(775-777)Cgg>Tgg	p.R259W	APC_uc011cvt.2_Missense_Mutation_p.R241W|APC_uc003kpy.4_Missense_Mutation_p.R259W|APC_uc010jbz.3_5'UTR	NM_001127510	NP_001120982	P25054	APC_HUMAN	Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA.	259	Leu-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity			NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TGATGCTGAGCGGCAGAATGA	0.368000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)		
FGF10	2255	broad.mit.edu	37	5	44305128	44305128	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:44305128G>A	uc003jog.1	-	2	596	c.596C>T	c.(595-597)gCt>gTt	p.A199V		NM_004465	NP_004456	O15520	FGF10_HUMAN	Homo sapiens fibroblast growth factor 10 (FGF10), mRNA.	199					ERK1 and ERK2 cascade|actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of Ras protein signal transduction|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding			haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					AAGAAAGTGAGCAGAGGTGTT	0.433000												
BIRC6	57448	broad.mit.edu	37	2	32678971	32678971	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:32678971T>C	uc010ezu.3	+	22	4848	c.4714T>C	c.(4714-4716)Tca>Cca	p.S1572P		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	1572					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TACTTGTGTGTCAACTAGTGA	0.373000												
CSMD2	114784	broad.mit.edu	37	1	34128652	34128652	+	Missense_Mutation	SNP	C	C	T	rs142169949	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:34128652C>T	uc001bxm.1	-	25	4270	c.4093G>A	c.(4093-4095)Gtg>Atg	p.V1365M	CSMD2_uc001bxn.1_Missense_Mutation_p.V1325M|CSMD2_uc001bxo.1_Missense_Mutation_p.V238M	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1325	CUB 8.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ATGCGCAGCACGTCGTGAACC	0.602000												
ASCC3	10973	broad.mit.edu	37	6	101109778	101109778	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:101109778C>T	uc003pqk.3	-	15	2936	c.2607G>A	c.(2605-2607)acG>acA	p.T869T	ASCC3_uc011eai.1_Silent_p.T771T	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	Homo sapiens activating signal cointegrator 1 complex subunit 3 (ASCC3), transcript variant 1, mRNA.	869	Helicase C-terminal 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		GTTTATCATGCGTTGTTATAA	0.408000												
DDX10	1662	broad.mit.edu	37	11	108577481	108577481	+	Silent	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:108577481T>C	uc001pkm.3	+	9	1304	c.1239T>C	c.(1237-1239)ggT>ggC	p.G413G	DDX10_uc001pkl.1_Silent_p.G413G	NM_004398	NP_004389	Q13206	DDX10_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 (DDX10), mRNA.	413	Helicase C-terminal.						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)		AAGAGGATGGTGAAGCTTTGC	0.363000			T	NUP98	AML*							
SHANK1	50944	broad.mit.edu	37	19	51217085	51217085	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:51217085G>A	uc002psx.1	-	4	781	c.762C>T	c.(760-762)gcC>gcT	p.A254A		NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	254					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GGGCGCATGCGGCCTTATGCA	0.637000												
ODC1	4953	broad.mit.edu	37	2	10581770	10581770	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:10581770C>T	uc010exg.1	-	10	1540	c.1106G>A	c.(1105-1107)cGc>cAc	p.R369H	ODC1_uc002rao.1_Missense_Mutation_p.R369H|ODC1_uc010yjd.1_Missense_Mutation_p.R239H	NM_002539	NP_002530	P11926	DCOR_HUMAN	Homo sapiens ornithine decarboxylase 1 (ODC1), mRNA.	369					polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus	cytosol	ornithine decarboxylase activity|protein binding			NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Pyridoxal Phosphate(DB00114)|Spermine(DB00127)	CAGGTCACAGCGCTCAACAAT	0.478000												
PKD1	5310	broad.mit.edu	37	16	2162937	2162937	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:2162937C>T	uc002cos.1	-	12	3222	c.3013G>A	c.(3013-3015)Gtc>Atc	p.V1005I	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Missense_Mutation_p.V1005I	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	1005	PKD 4.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TTCACGGTGACGTTGCTCACG	0.642000												
BTN2A2	10385	broad.mit.edu	37	6	26390250	26390250	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:26390250G>A	uc003nht.3	+	4	875	c.742G>A	c.(742-744)Gca>Aca	p.A248T	BTN2A2_uc003nhs.3_Missense_Mutation_p.A248T|BTN2A2_uc011dkf.2_Missense_Mutation_p.A132T|BTN2A2_uc003nhq.3_Missense_Mutation_p.A248T|BTN2A2_uc003nhr.3_Missense_Mutation_p.A132T|BTN2A2_uc011dkh.2_Missense_Mutation_p.A38T|BTN2A2_uc011dkg.2_Missense_Mutation_p.A154T|BTN2A2_uc011dki.1_5'UTR	NM_001197237	NP_001184166	Q8WVV5	BT2A2_HUMAN	Homo sapiens butyrophilin, subfamily 2, member A2 (BTN2A2), transcript variant 3, mRNA.	248					negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane		p.A248T(2)		breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						TATGCCCAGCGCATCTCCCTG	0.493000												
PIP4K2A	5305	broad.mit.edu	37	10	22898568	22898568	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:22898568C>T	uc001irl.4	-	1	471	c.223G>A	c.(223-225)Gac>Aac	p.D75N		NM_005028	NP_005019	P48426	PI42A_HUMAN	Homo sapiens phosphatidylinositol-5-phosphate 4-kinase, type II, alpha (PIP4K2A), mRNA.	75	PIPK.						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						AGGTGATTGTCCACCTTTATT	0.328000												
DST	667	broad.mit.edu	37	6	56392496	56392496	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:56392496G>A	uc003pcy.4	-	48	9956	c.9848C>T	c.(9847-9849)gCc>gTc	p.A3283V		NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	5695					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGCTTTAATGGCTTCCAATTT	0.413000												
PCDHB3	56132	broad.mit.edu	37	5	140481651	140481651	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:140481651T>C	uc003lio.3	+	0	1418	c.1418T>C	c.(1417-1419)gTc>gCc	p.V473A	BC016751_uc003lin.3_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	473	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATCGGCAGTGTCAGCGCCACA	0.637000												
POTEE	445582	broad.mit.edu	37	2	131976349	131976349	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:131976349A>G	uc002tsn.2	+	0	426	c.374A>G	c.(373-375)gAc>gGc	p.D125G	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	125							ATP binding										GACTACGATGACAGCGCCTTC	0.592000												
ZNF440	126070	broad.mit.edu	37	19	11942881	11942881	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:11942881G>A	uc002msp.1	+	3	1046	c.890G>A	c.(889-891)cGt>cAt	p.R297H	ZNF440_uc021upk.1_5'Flank	NM_152357	NP_689570	Q8IYI8	ZN440_HUMAN	Homo sapiens zinc finger protein 440 (ZNF440), mRNA.	297					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						ACGTGTCCCCGTTATGTTCGT	0.403000												
COL4A4	1286	broad.mit.edu	37	2	227872065	227872065	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:227872065G>A	uc021vxr.1	-	46	5150	c.5049C>T	c.(5047-5049)tgC>tgT	p.C1683C	COL4A4_uc021vxs.1_Silent_p.C1680C	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	1683	Collagen IV NC1.				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)		CGCAGACCTGGCACCGGCTGA	0.507000												
ZNF804A	91752	broad.mit.edu	37	2	185800759	185800759	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:185800759C>T	uc002uph.3	+	3	1230	c.636C>T	c.(634-636)atC>atT	p.I212I		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	212						intracellular	zinc ion binding	p.I212I(2)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GACACAAAATCGGCTTTTCTT	0.438000												
SLC4A1	6521	broad.mit.edu	37	17	42335832	42335832	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:42335832G>A	uc002igf.4	-	9	1185	c.1036C>T	c.(1036-1038)Cgc>Tgc	p.R346C	SLC4A1_uc021tyc.1_Intron	NM_000342	NP_000333	P02730	B3AT_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA.	346					bicarbonate transport|cellular ion homeostasis	Z disc|basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GACTGATAGCGCCTTCGAAGT	0.642000												
TBL2	26608	broad.mit.edu	37	7	72987764	72987764	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:72987764G>A	uc003tyh.3	-	3	618	c.484C>T	c.(484-486)Cgt>Tgt	p.R162C	TBL2_uc011kex.2_Missense_Mutation_p.R126C|TBL2_uc010lbg.3_Missense_Mutation_p.R67C|TBL2_uc003tyi.3_5'UTR|TBL2_uc011key.2_Missense_Mutation_p.R33C	NM_012453	NP_036585	Q9Y4P3	TBL2_HUMAN	Homo sapiens transducin (beta)-like 2 (TBL2), mRNA.	162										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				TTGAAGACACGGAGGGTGTCC	0.577000												
NLRC5	84166	broad.mit.edu	37	16	57060074	57060074	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:57060074G>A	uc021tiu.1	+	4	1346	c.1219G>A	c.(1219-1221)Gca>Aca	p.A407T	NLRC5_uc021tit.1_Missense_Mutation_p.A407T|NLRC5_uc010ccq.1_Non-coding_Transcript|NLRC5_uc021tiv.1_Missense_Mutation_p.A212T|NLRC5_uc021tiw.1_Missense_Mutation_p.A212T|NLRC5_uc010ccr.1_Non-coding_Transcript	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA.	407	NACHT.				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|RNA polymerase II core promoter sequence-specific DNA binding|protein binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				TGCGGTGCCCGCACTGTGCCA	0.597000												
PCSK1	5122	broad.mit.edu	37	5	95728946	95728946	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:95728946G>A	uc003kls.2	-	13	2260	c.2021C>T	c.(2020-2022)gCt>gTt	p.A674V	PCSK1_uc010jbi.2_Missense_Mutation_p.A364V|PCSK1_uc021ybq.1_Missense_Mutation_p.A627V	NM_000439	NP_000430	P29120	NEC1_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 1 (PCSK1), transcript variant 1, mRNA.	674					cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTTACTGAAAGCACTTTGCAG	0.547000												
MFSD10	10227	broad.mit.edu	37	4	2933648	2933648	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:2933648C>T	uc003gfw.3	-	6	1132	c.818G>A	c.(817-819)cGc>cAc	p.R273H	MFSD10_uc021xks.1_Missense_Mutation_p.R197H|MFSD10_uc003gfz.3_Missense_Mutation_p.R273H|NOP14-AS1_uc003ggd.1_5'Flank|NOP14-AS1_uc003gge.1_5'Flank	NM_001120	NP_001139541	Q14728	MFS10_HUMAN	Homo sapiens major facilitator superfamily domain containing 10 (MFSD10), transcript variant 1, mRNA.	273					apoptosis	integral to membrane	tetracycline transporter activity			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GCCCAGGCGGCGCAGGCTGCT	0.662000												
ELK1	2002	broad.mit.edu	37	X	47500653	47500653	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:47500653G>A	uc004dik.4	-	2	510	c.188C>T	c.(187-189)gCc>gTc	p.A63V	ELK1_uc010nhv.3_Missense_Mutation_p.A63V|ELK1_uc010nhw.3_5'UTR|ELK1_uc004dil.4_Non-coding_Transcript	NM_001114123	NP_005220	P19419	ELK1_HUMAN	Homo sapiens ELK1, member of ETS oncogene family (ELK1), transcript variant 1, mRNA.	63					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						GTACCGCAAGGCCCGGCTGAG	0.502000												
SFRP4	6424	broad.mit.edu	37	7	37947223	37947223	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:37947223T>C	uc003tfo.4	-	5	1285	c.899A>G	c.(898-900)gAc>gGc	p.D300G		NM_003014	NP_003005	Q6FHJ7	SFRP4_HUMAN	Homo sapiens secreted frizzled-related protein 4 (SFRP4), mRNA.	300	NTR.				Wnt receptor signaling pathway|brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of JNK cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						TTTCTTCTTGTCCTGAACTGT	0.488000												
DSE	29940	broad.mit.edu	37	6	116757490	116757490	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:116757490A>G	uc011ebg.2	+	5	2015	c.1916A>G	c.(1915-1917)gAc>gGc	p.D639G	DSE_uc003pws.3_Missense_Mutation_p.D620G|DSE_uc003pwt.3_Missense_Mutation_p.D620G|DSE_uc003pwu.3_Missense_Mutation_p.D287G	NM_013352	NP_037484	Q9UL01	DSE_HUMAN	Homo sapiens dermatan sulfate epimerase (DSE), transcript variant 1, mRNA.	620					dermatan sulfate biosynthetic process	Golgi apparatus|endoplasmic reticulum|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)		TACTGGATGGACGATACTGGC	0.473000												
STX6	10228	broad.mit.edu	37	1	180974435	180974435	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:180974435G>A	uc021pfr.1	-	1	437	c.200C>T	c.(199-201)aCc>aTc	p.T67I	STX6_uc010pnr.2_Intron	NM_005819	NP_005810	O43752	STX6_HUMAN	Homo sapiens syntaxin 6 (STX6), mRNA.	67					Golgi vesicle transport|intracellular protein transport|vesicle fusion	clathrin-coated vesicle|early endosome|integral to membrane|perinuclear region of cytoplasm|plasma membrane|trans-Golgi network membrane	SNAP receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	10						GATATTGATGGTTTCATCAAG	0.438000												
RIN3	79890	broad.mit.edu	37	14	93125612	93125612	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:93125612G>C	uc001yap.3	+	6	2285	c.2133G>C	c.(2131-2133)caG>caC	p.Q711H	RIN3_uc010auk.3_Missense_Mutation_p.Q373H|RIN3_uc001yaq.3_Missense_Mutation_p.Q636H|RIN3_uc001yar.1_Missense_Mutation_p.Q373H|RIN3_uc001yas.1_Missense_Mutation_p.Q373H	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Homo sapiens Ras and Rab interactor 3 (RIN3), mRNA.	711	Interaction with RAB5B.|VPS9.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				CGCTGCAGCAGCTCAAGGAGA	0.547000												
ZNF230	7773	broad.mit.edu	37	19	44513032	44513032	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:44513032G>A	uc002oyb.1	+	2	357	c.106G>A	c.(106-108)Gtg>Atg	p.V36M		NM_006300	NP_006291	Q9UIE0	ZN230_HUMAN	Homo sapiens zinc finger protein 230 (ZNF230), mRNA.	36	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				GTACCAAGACGTGATGCTTGA	0.527000												
SLC32A1	140679	broad.mit.edu	37	20	37357187	37357187	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:37357187G>A	uc002xjc.3	+	1	1746	c.1483G>A	c.(1483-1485)Gcc>Acc	p.A495T		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	Homo sapiens solute carrier family 32 (GABA vesicular transporter), member 1 (SLC32A1), mRNA.	495					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity	p.A495T(2)		breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CTTCGACGTCGCCATCTTCGT	0.647000												
SLC16A7	9194	broad.mit.edu	37	12	60168512	60168512	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:60168512G>A	uc001sqs.3	+	4	735	c.436G>A	c.(436-438)Gca>Aca	p.A146T	SLC16A7_uc001sqt.3_Missense_Mutation_p.A146T|SLC16A7_uc001squ.3_Missense_Mutation_p.A146T|SLC16A7_uc009zqi.3_Missense_Mutation_p.A47T|SLC16A7_uc010ssi.2_Missense_Mutation_p.A47T	NM_004731	NP_004722	O60669	MOT2_HUMAN	Homo sapiens solute carrier family 16, member 7 (monocarboxylic acid transporter 2) (SLC16A7), mRNA.	146						integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity	p.A146S(2)		endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Pyruvic acid(DB00119)	GCGACCCATGGCAAATGGATT	0.418000												
MYO18B	84700	broad.mit.edu	37	22	26173737	26173737	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:26173737G>A	uc003abz.1	+	7	2307	c.2057G>A	c.(2056-2058)gGc>gAc	p.G686D	MYO18B_uc003aca.1_Missense_Mutation_p.G567D|MYO18B_uc010guy.1_Missense_Mutation_p.G567D|MYO18B_uc010guz.1_Missense_Mutation_p.G567D|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_Missense_Mutation_p.G199D	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	686	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AGTGTGGATGGCAGGGTCTCA	0.582000												
PFKL	5211	broad.mit.edu	37	21	45738404	45738404	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr21:45738404G>A	uc002zek.3	+	12	1530	c.1129G>A	c.(1129-1131)Gac>Aac	p.D377N	PFKL_uc002zel.3_Missense_Mutation_p.D330N|PFKL_uc002zem.3_5'Flank|PFKL_uc002zen.3_5'Flank			P17858	K6PL_HUMAN	Homo sapiens phosphofructokinase, liver (PFKL), transcript variant 1, non-coding RNA.	330					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		AGCCACGCCTGACACGCCGGC	0.662000												
EPS8	2059	broad.mit.edu	37	12	15819381	15819381	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:15819381C>T	uc009zif.3	-	6	686	c.592G>A	c.(592-594)Gcc>Acc	p.A198T	EPS8_uc001rdb.3_Missense_Mutation_p.A198T|EPS8_uc009zig.3_5'UTR	NM_004447	NP_004438	Q12929	EPS8_HUMAN	Homo sapiens epidermal growth factor receptor pathway substrate 8 (EPS8), mRNA.	198					cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		TACCTCAGGGCGTCGGGCCGC	0.393000												
SLC32A1	140679	broad.mit.edu	37	20	37353656	37353656	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:37353656G>A	uc002xjc.3	+	0	552	c.289G>A	c.(289-291)Ggc>Agc	p.G97S		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	Homo sapiens solute carrier family 32 (GABA vesicular transporter), member 1 (SLC32A1), mRNA.	97					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	GCCGCCCTCCGGCTCCAAGGA	0.667000												
SLC4A11	83959	broad.mit.edu	37	20	3212106	3212106	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:3212106C>T	uc010zqe.2	-	7	1072	c.947G>A	c.(946-948)cGc>cAc	p.R316H	SLC4A11_uc002wig.3_Missense_Mutation_p.R289H|SLC4A11_uc002wih.3_Non-coding_Transcript|SLC4A11_uc010zqf.2_Missense_Mutation_p.R273H	NM_001174090	NP_001167561	Q8NBS3	S4A11_HUMAN	Homo sapiens solute carrier family 4, sodium borate transporter, member 11 (SLC4A11), transcript variant 1, mRNA.	289					cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						CTCCTCTGTGCGGGTCTCCAG	0.592000												
TKTL2	84076	broad.mit.edu	37	4	164394215	164394215	+	Silent	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:164394215G>T	uc003iqp.4	-	0	833	c.672C>A	c.(670-672)gcC>gcA	p.A224A		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	Homo sapiens transketolase-like 2 (TKTL2), mRNA.	224						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CTTGGCACAAGGCCTCCACAT	0.488000												
TAS2R30	259293	broad.mit.edu	37	12	11286180	11286180	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:11286180T>C	uc009zhs.1	-	0	664	c.664A>G	c.(664-666)Aag>Gag	p.K222E	PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron|TAS2R14_uc001qzj.3_Intron	NM_001097643	NP_001091112			Homo sapiens taste receptor, type 2, member 30 (TAS2R30), mRNA.											autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						ATGTGGACCTTGGTGCTGGGA	0.418000												
KIAA0196	9897	broad.mit.edu	37	8	126040911	126040911	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:126040911G>A	uc003yrt.3	-	27	3703	c.3374C>T	c.(3373-3375)gCc>gTc	p.A1125V	KIAA0196_uc011lir.2_Missense_Mutation_p.A977V	NM_014846	NP_055661	Q12768	STRUM_HUMAN	Homo sapiens KIAA0196 (KIAA0196), mRNA.	1125					cell death	WASH complex		p.G1124C(1)		NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			GAACAGAAGGGCACCCACAAC	0.398000												
TBCD	6904	broad.mit.edu	37	17	80772782	80772782	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:80772782C>T	uc002kfy.1	+	12	1420	c.1290C>T	c.(1288-1290)ggC>ggT	p.G430G	TBCD_uc002kfx.1_Silent_p.G413G|TBCD_uc002kfz.3_Silent_p.G430G	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	Homo sapiens tubulin folding cofactor D (TBCD), mRNA.	430					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	GTPase activator activity|beta-tubulin binding|chaperone binding					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			GCAGGAGAGGCCTGTTGCTGC	0.632000												
C10orf12	26148	broad.mit.edu	37	10	98742563	98742563	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:98742563C>A	uc001kmv.3	+	0	1523	c.1416C>A	c.(1414-1416)tgC>tgA	p.C472*	C10orf12_uc009xvg.2_Nonsense_Mutation_p.C782*	NM_015652	NP_056467	Q8N655	CJ012_HUMAN	Homo sapiens chromosome 10 open reading frame 12 (C10orf12), mRNA.	472										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		ATGTAAAATGCCTGTCAGAAA	0.418000												
TSC1	7248	broad.mit.edu	37	9	135797351	135797351	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:135797351G>A	uc004cca.2	-	6	752	c.518C>T	c.(517-519)gCg>gTg	p.A173V	TSC1_uc004ccb.3_Missense_Mutation_p.A173V|TSC1_uc011mcq.1_Missense_Mutation_p.A122V|TSC1_uc011mcr.2_Missense_Mutation_p.A52V|TSC1_uc011mcs.1_Missense_Mutation_p.A52V|TSC1_uc004ccc.1_Missense_Mutation_p.A173V|TSC1_uc004cce.1_Missense_Mutation_p.A173V	NM_000368	NP_000359	Q92574	TSC1_HUMAN	Homo sapiens tuberous sclerosis 1 (TSC1), transcript variant 1, mRNA.	173					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of TOR signaling cascade|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of translation|positive regulation of focal adhesion assembly|rRNA export from nucleus|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly	TSC1-TSC2 complex|cell cortex|lamellipodium|membrane	chaperone binding|protein N-terminus binding	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		ATAGACTTCCGCCACGTGGCC	0.488000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis			
DRP2	1821	broad.mit.edu	37	X	100505442	100505442	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:100505442G>A	uc004egz.2	+	14	1940	c.1571G>A	c.(1570-1572)aGc>aAc	p.S524N	DRP2_uc011mrh.1_Missense_Mutation_p.S446N	NM_001939	NP_001164655	Q13474	DRP2_HUMAN	Homo sapiens dystrophin related protein 2 (DRP2), transcript variant 1, mRNA.	524					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						AACTCAGGCAGCCAGTGTGAC	0.612000												
TUBAL3	79861	broad.mit.edu	37	10	5435974	5435974	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:5435974C>T	uc001ihy.3	-	3	885	c.847G>A	c.(847-849)Gtc>Atc	p.V283I	TUBAL3_uc001ihz.3_Missense_Mutation_p.V243I	NM_024803	NP_079079	A6NHL2	TBAL3_HUMAN	Homo sapiens tubulin, alpha-like 3 (TUBAL3), transcript variant 1, mRNA.	283					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						TCAGCAGAGACGATGGGGGCG	0.517000												
BCL6B	255877	broad.mit.edu	37	17	6927806	6927806	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:6927806G>A	uc010clt.1	+	3	550	c.488G>A	c.(487-489)cGc>cAc	p.R163H	BCL6B_uc002geg.2_Missense_Mutation_p.R163H	NM_181844	NP_862827	Q8N143	BCL6B_HUMAN	Homo sapiens B-cell CLL/lymphoma 6, member B (BCL6B), mRNA.	163	Pro-rich.					nucleus	zinc ion binding			skin(1)	1						AGTCCCAGGCGCTCCGAAGGA	0.632000												
MGAT3	4248	broad.mit.edu	37	22	39883366	39883366	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:39883366G>A	uc003axv.4	+	1	253	c.14G>A	c.(13-15)cGc>cAc	p.R5H	MGAT3_uc010gxy.3_Missense_Mutation_p.R5H	NM_002409	NP_002400	Q09327	MGAT3_HUMAN	Homo sapiens mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase (MGAT3), transcript variant 1, mRNA.	5					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					AAGATGAGACGCTACAAGCTC	0.567000												
CDK12	51755	broad.mit.edu	37	17	37682159	37682159	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:37682159C>T	uc010cvv.3	+	12	3936	c.3350C>T	c.(3349-3351)gCa>gTa	p.A1117V	CDK12_uc010wef.1_Missense_Mutation_p.A1116V|CDK12_uc002hrw.4_Missense_Mutation_p.A1117V	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Homo sapiens cyclin-dependent kinase 12 (CDK12), transcript variant 1, mRNA.	1117					RNA splicing|mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						AGTGAATTGGCAGTGTTATTA	0.498000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)		
PHC2	1912	broad.mit.edu	37	1	33836643	33836643	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:33836643G>A	uc009vuh.1	-	3	875	c.386C>T	c.(385-387)gCg>gTg	p.A129V	PHC2_uc001bxg.1_Missense_Mutation_p.A129V|PHC2_uc001bxh.1_Missense_Mutation_p.A129V|PHC2_uc001bxi.1_Missense_Mutation_p.A129V	NM_198040	NP_932157	Q8IXK0	PHC2_HUMAN	Homo sapiens polyhomeotic homolog 2 (Drosophila) (PHC2), transcript variant 1, mRNA.	129					multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding	p.A129A(1)		autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CGGGGCCTGCGCAGACACATT	0.562000												
POLR2C	5432	broad.mit.edu	37	16	57503154	57503154	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:57503154G>A	uc002elt.1	+	4	422	c.336G>A	c.(334-336)acG>acA	p.T112T	POLR2C_uc010vhq.2_Silent_p.T112T	NM_032940	NP_116558	P19387	RPB3_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide C, 33kDa (POLR2C), mRNA.	112					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	10						AAGACCAGACGCGACATGTCA	0.572000												
MAP3K9	4293	broad.mit.edu	37	14	71199485	71199485	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:71199485G>A	uc001xmm.3	-	10	2601	c.2601C>T	c.(2599-2601)gtC>gtT	p.V867V	MAP3K9_uc010ttk.2_Silent_p.V595V|MAP3K9_uc001xmk.3_Silent_p.V600V|MAP3K9_uc001xml.3_Silent_p.V881V	NM_033141	NP_149132	P80192	M3K9_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA.	867	Pro-rich.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GAGGGGCCTCGACTGGGCTGA	0.577000												
DSCAML1	57453	broad.mit.edu	37	11	117308798	117308798	+	Splice_Site	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:117308798G>A	uc001prh.1	-	25	4426	c.4424_splice	c.e25-1	p.G1475_splice		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	1415					axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GTAGCACGAAGCCTGCGGAGG	0.632000												
TNKS2	80351	broad.mit.edu	37	10	93600363	93600363	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:93600363C>T	uc001khp.3	+	13	1870	c.1573C>T	c.(1573-1575)Cgt>Tgt	p.R525C		NM_025235	NP_079511	Q9H2K2	TNKS2_HUMAN	Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2 (TNKS2), mRNA.	525					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				CATTGAAGGGCGTCAGTCTAC	0.418000												
PCDH8	5100	broad.mit.edu	37	13	53418988	53418988	+	Missense_Mutation	SNP	C	C	T	rs141509995		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:53418988C>T	uc001vhi.3	-	2	3124	c.2920G>A	c.(2920-2922)Gca>Aca	p.A974T	PCDH8_uc001vhj.3_Missense_Mutation_p.A877T	NM_002590	NP_002581	O95206	PCDH8_HUMAN	Homo sapiens protocadherin 8 (PCDH8), transcript variant 1, mRNA.	974					cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	p.A974T(2)|p.N973N(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		GATGGATGTGCGTTGGGCCCG	0.597000												
UNC93A	54346	broad.mit.edu	37	6	167728837	167728837	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:167728837C>T	uc003qvq.3	+	7	1446	c.1271C>T	c.(1270-1272)gCg>gTg	p.A424V	UNC93A_uc003qvr.3_Missense_Mutation_p.A382V	NM_018974	NP_061847	Q86WB7	UN93A_HUMAN	Homo sapiens unc-93 homolog A (C. elegans) (UNC93A), transcript variant 1, mRNA.	424						integral to membrane|plasma membrane		p.A424A(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		ACCATGGTGGCGTATGGGCTT	0.552000												
AP3D1	8943	broad.mit.edu	37	19	2114816	2114816	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:2114816G>A	uc002lva.3	-	20	2577	c.2354C>T	c.(2353-2355)gCt>gTt	p.A785V	AP3D1_uc002luy.3_Missense_Mutation_p.A694V|AP3D1_uc002luz.3_Missense_Mutation_p.A785V	NM_003938	NP_003929	O14617	AP3D1_HUMAN	Homo sapiens adaptor-related protein complex 3, delta 1 subunit (AP3D1), transcript variant 2, mRNA.	785					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	Golgi membrane|endosome membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGGGCAGAGCATTCTGACA	0.592000												
QKI	9444	broad.mit.edu	37	6	163984542	163984542	+	Missense_Mutation	SNP	G	G	A	rs142647102		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:163984542G>A	uc003qui.3	+	5	1276	c.725G>A	c.(724-726)cGt>cAt	p.R242H	QKI_uc003quj.3_Missense_Mutation_p.R234H|QKI_uc003quh.3_Missense_Mutation_p.R234H|QKI_uc003que.3_Missense_Mutation_p.R242H|QKI_uc003quf.3_Missense_Mutation_p.R242H|QKI_uc003qug.3_Missense_Mutation_p.R242H	NM_006775	NP_006766	Q96PU8	QKI_HUMAN	Homo sapiens QKI, KH domain containing, RNA binding (QKI), transcript variant 1, mRNA.	242					RNA splicing|mRNA processing|mRNA transport|regulation of translation	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding			central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		GCTGCCCTGCGTACTCCTACG	0.552000												
AQPEP	206338	broad.mit.edu	37	5	115338603	115338603	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:115338603G>A	uc003kro.3	+	10	2056	c.1892G>A	c.(1891-1893)aGc>aAc	p.S631N	AQPEP_uc003krp.3_Non-coding_Transcript|AQPEP_uc003krs.3_Non-coding_Transcript|AQPEP_uc003krq.3_Non-coding_Transcript|AQPEP_uc003krr.3_Non-coding_Transcript	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN	Homo sapiens laeverin (AQPEP), mRNA.	631					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										CTAGATCAAAGCAGCAGTAAG	0.294000												
KCNAB3	9196	broad.mit.edu	37	17	7826435	7826435	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:7826435C>T	uc002gjm.1	-	13	1200	c.1200G>A	c.(1198-1200)ccG>ccA	p.P400P	KCNAB3_uc010vul.1_Non-coding_Transcript	NM_004732	NP_004723	O43448	KCAB3_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, beta member 3 (KCNAB3), mRNA.	400						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	8		Prostate(122;0.157)				TCTTGGAATGCGGCTTGTTTC	0.677000												
MDN1	23195	broad.mit.edu	37	6	90420485	90420485	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:90420485A>T	uc003pnn.1	-	49	7796	c.7680T>A	c.(7678-7680)agT>agA	p.S2560R		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	2560					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GAGATGCAGCACTGGCTTCCA	0.398000												
FBXL18	80028	broad.mit.edu	37	7	5541130	5541130	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:5541130C>T	uc003soo.2	-	2	864	c.770G>A	c.(769-771)cGc>cAc	p.R257H	FBXL18_uc003son.4_Missense_Mutation_p.R257H	NM_024963	NP_079239	Q96ME1	FXL18_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 18 (FBXL18), mRNA.	257									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		CTGAGGAGTGCGGTCGCTAAG	0.647000												
NOTCH2	4853	broad.mit.edu	37	1	120483245	120483245	+	Missense_Mutation	SNP	G	G	A	rs61755044	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:120483245G>A	uc001eik.3	-	18	3413	c.3116C>T	c.(3115-3117)aCg>aTg	p.T1039M	NOTCH2_uc001eil.3_Missense_Mutation_p.T1039M	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	1039	EGF-like 27; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.T1039M(2)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATCAACACACGTTCCCTCATT	0.522000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome			
TIAM2	26230	broad.mit.edu	37	6	155469392	155469392	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:155469392G>A	uc003qqb.3	+	8	3225	c.1952G>A	c.(1951-1953)aGc>aAc	p.S651N	TIAM2_uc003qqe.3_Missense_Mutation_p.S651N|TIAM2_uc010kjj.3_Missense_Mutation_p.S184N|TIAM2_uc003qqf.3_Missense_Mutation_p.S3N|TIAM2_uc011efl.1_5'Flank|TIAM2_uc003qqg.3_5'Flank	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	651					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GACATGGACAGCAAGATGAAG	0.498000												
RFX6	222546	broad.mit.edu	37	6	117246695	117246695	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:117246695C>T	uc003pxm.3	+	15	1821	c.1758C>T	c.(1756-1758)agC>agT	p.S586S		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	586					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TGGTTTCCAGCGACGCTGTGA	0.512000												
PSMD10	5716	broad.mit.edu	37	X	107331059	107331059	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:107331059G>A	uc004enp.2	-	3	508	c.384C>T	c.(382-384)ggC>ggT	p.G128G	PSMD10_uc004enq.2_Silent_p.G128G|PSMD10_uc010nph.2_Silent_p.G79G	NM_002814	NP_002805	O75832	PSD10_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 10 (PSMD10), transcript variant 1, mRNA.	128	Interaction with RELA.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cytoplasmic sequestering of NF-kappaB|mRNA metabolic process|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of MAPKKK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of apoptosis|negative regulation of release of cytochrome c from mitochondria|negative regulation of transcription from RNA polymerase II promoter|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of cellular amino acid metabolic process|viral reproduction	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus|proteasome regulatory particle	transcription factor binding			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						GATTAGCCCCGCCTTCCAGTA	0.433000												
LRP6	4040	broad.mit.edu	37	12	12334196	12334196	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:12334196C>T	uc001rah.4	-	5	1296	c.1154G>A	c.(1153-1155)cGc>cAc	p.R385H	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.R385H	NM_002336	NP_002327	O75581	LRP6_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA.	385	Beta-propeller 2.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	Wnt-protein binding|coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				AAATGAACGGCGTATGGCCCT	0.458000												
LLGL2	3993	broad.mit.edu	37	17	73566553	73566553	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:73566553C>T	uc002joh.3	+	15	2153	c.1999C>T	c.(1999-2001)Cgg>Tgg	p.R667W	LLGL2_uc002joi.3_Missense_Mutation_p.R667W|LLGL2_uc010dgg.2_Missense_Mutation_p.R667W|LLGL2_uc002joj.3_Missense_Mutation_p.R656W|LLGL2_uc010wsd.2_Missense_Mutation_p.R294W	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	Homo sapiens lethal giant larvae homolog 2 (Drosophila) (LLGL2), transcript variant 3, mRNA.	667					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CAGCCGGAAGCGGCACCCGGC	0.706000												
ATP13A3	79572	broad.mit.edu	37	3	194158063	194158063	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:194158063G>A	uc003fty.4	-	17	2378	c.1976C>T	c.(1975-1977)gCc>gTc	p.A659V	ATP13A3_uc003ftz.1_Missense_Mutation_p.A365V	NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	Homo sapiens ATPase type 13A3 (ATP13A3), mRNA.	659					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)		ACAGAGACCGGCAATGGCCTC	0.438000												
RASGRP1	10125	broad.mit.edu	37	15	38800067	38800067	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:38800067C>A	uc001zke.4	-	8	1280	c.1102G>T	c.(1102-1104)Gcc>Tcc	p.A368S	RASGRP1_uc010bbe.3_Non-coding_Transcript|RASGRP1_uc010bbf.3_Missense_Mutation_p.A230S|RASGRP1_uc010bbg.3_Missense_Mutation_p.A230S|RASGRP1_uc001zkd.4_Missense_Mutation_p.A368S	NM_005739	NP_005730	O95267	GRP1_HUMAN	Homo sapiens RAS guanyl releasing protein 1 (calcium and DAG-regulated) (RASGRP1), transcript variant 1, mRNA.	368	Ras-GEF.				Ras protein signal transduction|cell differentiation|platelet activation|regulation of small GTPase mediated signal transduction	Golgi membrane|cytosol|endoplasmic reticulum membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		TCAGGCATGGCTTCATACAGG	0.517000												
PILRB	29990	broad.mit.edu	37	7	99950995	99950995	+	Splice_Site	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:99950995G>T	uc003uum.1	+	6		c.664_splice	c.e6-1		PILRB_uc022aim.1_Intron			Q9UKJ0	PILRB_HUMAN	Homo sapiens paired immunoglobin-like type 2 receptor beta (PILRB), transcript variant 1, non-coding RNA.						activation of transmembrane receptor protein tyrosine kinase activity	integral to plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCCCCGCGCAGGCACCCAGCC	0.652000												
CDC6	990	broad.mit.edu	37	17	38450699	38450699	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:38450699T>C	uc002huj.1	+	6	1237	c.1027T>C	c.(1027-1029)Ttc>Ctc	p.F343L		NM_001254	NP_001245	Q99741	CDC6_HUMAN	Homo sapiens cell division cycle 6 homolog (S. cerevisiae) (CDC6), mRNA.	343					DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell division|mitosis|negative regulation of DNA replication|negative regulation of cell proliferation|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm|spindle midzone|spindle pole	ATP binding|kinase binding|nucleoside-triphosphatase activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						GCTGTTGAACTTCCCACCTTA	0.403000												
SIRPB1	10326	broad.mit.edu	37	20	1558987	1558987	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:1558987G>A	uc010gai.3	-	1	529	c.430C>T	c.(430-432)Cgc>Tgc	p.R144C	SIRPB1_uc002wfk.4_Missense_Mutation_p.R144C	NM_006065	NP_006056	O00241	SIRB1_HUMAN	Homo sapiens signal-regulatory protein beta 1 (SIRPB1), transcript variant 1, mRNA.	144					cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						TACTCACCGCGCACAGACAGC	0.552000												
TSHZ1	10194	broad.mit.edu	37	18	72999867	72999867	+	Silent	SNP	C	C	T	rs142726083		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:72999867C>T	uc002lly.3	+	1	2933	c.2370C>T	c.(2368-2370)agC>agT	p.S790S	TSHZ1_uc021uln.1_Silent_p.S790S	NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	Homo sapiens teashirt zinc finger homeobox 1 (TSHZ1), mRNA.	835						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		TGCGGGAGAGCGCACTCATGG	0.557000												
NDST1	3340	broad.mit.edu	37	5	149907766	149907766	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:149907766G>A	uc003lsk.4	+	2	1416	c.914G>A	c.(913-915)cGc>cAc	p.R305H	NDST1_uc011dcj.2_Missense_Mutation_p.R305H|NDST1_uc003lsl.3_Missense_Mutation_p.R305H	NM_001543	NP_001534	P52848	NDST1_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 (NDST1), mRNA.	305	Heparan sulfate N-deacetylase 1.				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACGGGGAAGCGCCTCTCCCTG	0.587000												
LAMA4	3910	broad.mit.edu	37	6	112460964	112460964	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:112460964G>A	uc003pvu.2	-	22	3409	c.3100C>T	c.(3100-3102)Cca>Tca	p.P1034S	LAMA4_uc003pvv.2_Missense_Mutation_p.P1027S|LAMA4_uc003pvt.2_Missense_Mutation_p.P1027S	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	Homo sapiens laminin, alpha 4 (LAMA4), transcript variant 1, mRNA.	1034	Laminin G-like 1.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CGGGCACATGGCACTGATGTG	0.423000												
POLR2B	5431	broad.mit.edu	37	4	57889686	57889686	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:57889686C>T	uc003hcl.1	+	18	2749	c.2706C>T	c.(2704-2706)ggC>ggT	p.G902G	POLR2B_uc011cae.1_Silent_p.G895G|POLR2B_uc011caf.1_Silent_p.G827G|POLR2B_uc003hcm.1_Silent_p.G395G	NM_000938	NP_000929	P30876	RPB2_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide B, 140kDa (POLR2B), mRNA.	902					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					GCGAGACGGGCATTGTGGATC	0.388000												
TMEM38B	55151	broad.mit.edu	37	9	108457045	108457045	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:108457045G>A	uc004bcu.1	+	0	221	c.104G>A	c.(103-105)cGt>cAt	p.R35H	TMEM38B_uc010mtn.1_Missense_Mutation_p.R35H	NM_018112	NP_060582	Q9NVV0	TM38B_HUMAN	Homo sapiens transmembrane protein 38B (TMEM38B), mRNA.	35						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						GCGGTGAAACGTCAGCCGGGT	0.642000												
DOCK4	9732	broad.mit.edu	37	7	111629121	111629121	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:111629121C>T	uc003vfy.3	-	5	682	c.413G>A	c.(412-414)cGg>cAg	p.R138Q	DOCK4_uc003vfx.3_Missense_Mutation_p.R138Q|DOCK4_uc003vga.1_5'UTR|DOCK4_uc010ljt.1_Missense_Mutation_p.R138Q	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA.	138					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity|receptor tyrosine kinase 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)				GTCCTTCATCCGGTCGTGGGT	0.567000												
SLC5A4	6527	broad.mit.edu	37	22	32650199	32650199	+	Splice_Site	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:32650199G>A	uc003ami.3	-	2	138	c.136_splice	c.e2-1	p.A46_splice		NM_014227	NP_055042	Q9NY91	SC5A4_HUMAN	Homo sapiens solute carrier family 5 (low affinity glucose cotransporter), member 4 (SLC5A4), mRNA.	46			A -> T (in dbSNP:rs2235171).		carbohydrate transport|sodium ion transport	integral to membrane	symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CTTCAGCATCGCCTGAGCAGA	0.572000												
PCDH17	27253	broad.mit.edu	37	13	58208511	58208511	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:58208511C>T	uc001vhq.1	+	0	2723	c.1831C>T	c.(1831-1833)Cgc>Tgc	p.R611C	PCDH17_uc010aec.1_Missense_Mutation_p.R611C	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	611	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GAGCACTGTGCGCGCCCTAGA	0.657000												
ANKRD44	91526	broad.mit.edu	37	2	197987425	197987425	+	Silent	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:197987425G>T	uc021vuj.1	-	6	835	c.642C>A	c.(640-642)gcC>gcA	p.A214A	ANKRD44_uc002utz.4_5'UTR|ANKRD44_uc021vuk.1_Silent_p.A189A|ANKRD44_uc002uub.3_Silent_p.A214A|ANKRD44_uc010zgw.2_Silent_p.A142A|ANKRD44_uc002uuc.3_Silent_p.A214A	NM_001195144	NP_001182073	Q8N8A2	ANR44_HUMAN	Homo sapiens ankyrin repeat domain 44 (ANKRD44), transcript variant A, mRNA.	214							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GTCCATTGGAGGCTGCAGCAT	0.458000												
DUOX2	50506	broad.mit.edu	37	15	45391910	45391910	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:45391910G>A	uc001zun.3	-	24	3568	c.3365C>T	c.(3364-3366)gCc>gTc	p.A1122V	DUOX2_uc010bea.3_Missense_Mutation_p.A1122V	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	1122	Ferric oxidoreductase.|Interaction with TXNDC11 (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GTCCACTGCGGCATCAAAAGG	0.547000												
PEX5L	51555	broad.mit.edu	37	3	179519671	179519671	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:179519671G>A	uc003fki.1	-	14	1956	c.1826C>T	c.(1825-1827)gCg>gTg	p.A609V	PEX5L_uc011bqd.1_Missense_Mutation_p.A566V|PEX5L_uc011bqe.1_Missense_Mutation_p.A417V|PEX5L_uc011bqf.1_Missense_Mutation_p.A501V|PEX5L_uc003fkj.1_Missense_Mutation_p.A574V|PEX5L_uc010hxd.1_Missense_Mutation_p.A607V|PEX5L_uc011bqg.1_Missense_Mutation_p.A585V|PEX5L_uc011bqh.1_Missense_Mutation_p.A550V	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	Homo sapiens peroxisomal biogenesis factor 5-like (PEX5L), mRNA.	609					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			AAGATTAGCCGCCTGGAAGAG	0.463000												
NALCN	259232	broad.mit.edu	37	13	101720344	101720344	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:101720344C>T	uc001vox.1	-	38	4561	c.4372G>A	c.(4372-4374)Gag>Aag	p.E1458K		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	1458						integral to membrane	sodium channel activity|voltage-gated ion channel activity			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)					AGCTGGTCCTCCTCAGTGGAA	0.343000												
DISP1	84976	broad.mit.edu	37	1	223178672	223178672	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:223178672C>T	uc001hnu.2	+	9	4259	c.3933C>T	c.(3931-3933)ggC>ggT	p.G1311G		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA.	1311					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TCCAAAACGGCGTGGCACCTC	0.577000												
DAXX	1616	broad.mit.edu	37	6	33287520	33287520	+	Missense_Mutation	SNP	C	C	T	rs141395832	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:33287520C>T	uc003oec.3	-	5	1781	c.1577G>A	c.(1576-1578)cGc>cAc	p.R526H	ZBTB22_uc003oeb.3_5'Flank|ZBTB22_uc010juu.3_5'Flank|ZBTB22_uc021ywm.1_5'Flank|DAXX_uc021ywn.1_Missense_Mutation_p.R526H|DAXX_uc021ywo.1_Missense_Mutation_p.R526H|DAXX_uc011dre.2_Missense_Mutation_p.R538H|DAXX_uc003oed.3_Missense_Mutation_p.R526H|DAXX_uc011drd.2_Missense_Mutation_p.R451H	NM_001350	NP_001241646	Q9UER7	DAXX_HUMAN	Homo sapiens death-domain associated protein (DAXX), transcript variant 2, mRNA.	526	Asp/Glu-rich (acidic).|Interaction with MAP3K5.|Necessary for interaction with USP7.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	PML body|chromosome, centromeric region|cytosol|nucleolus	androgen receptor binding|heat shock protein binding|p53 binding|protein N-terminus binding|protein homodimerization activity|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						TGACACTATGCGTCCTTTGTT	0.517000			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM							
CLK3	1198	broad.mit.edu	37	15	74919715	74919715	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:74919715C>T	uc010uln.2	+	7	1745	c.1284C>T	c.(1282-1284)acC>acT	p.T428T	CLK3_uc002ayg.4_Silent_p.T280T|CLK3_uc002ayh.4_Silent_p.T59T|CLK3_uc002ayj.4_Silent_p.T257T|CLK3_uc002ayk.4_Silent_p.T207T|CLK3_uc002ayl.4_Silent_p.T113T	NM_001130028	NP_003983	P49761	CLK3_HUMAN	Homo sapiens CDC-like kinase 3 (CLK3), transcript variant 1, mRNA.	428	Protein kinase.					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						ATCAGCTGACCCATACAGACT	0.507000												
SOCS3	9021	broad.mit.edu	37	17	76354897	76354897	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:76354897G>A	uc002jvl.2	-	1	696	c.280C>T	c.(280-282)Cgc>Tgc	p.R94C	SOCS3_uc021uee.1_Missense_Mutation_p.R94C	NM_003955	NP_003946	O14543	SOCS3_HUMAN	Homo sapiens suppressor of cytokine signaling 3 (SOCS3), mRNA.	94	SH2.				JAK-STAT cascade|anti-apoptosis|interferon-gamma-mediated signaling pathway|regulation of growth|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol	protein kinase inhibitor activity	p.R94L(1)		kidney(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(99;0.000688)|OV - Ovarian serous cystadenocarcinoma(97;0.0554)			CACTGGATGCGCAGGTTCTTG	0.652000												
C5orf22	55322	broad.mit.edu	37	5	31541102	31541102	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:31541102G>A	uc003jhj.4	+	4	981	c.854G>A	c.(853-855)gGc>gAc	p.G285D	C5orf22_uc011cnw.1_Intron|C5orf22_uc003jhk.4_Missense_Mutation_p.G20D	NM_018356	NP_060826	Q49AR2	CE022_HUMAN	Homo sapiens chromosome 5 open reading frame 22 (C5orf22), mRNA.	285										kidney(3)|large_intestine(2)|lung(10)|ovary(2)|skin(1)	18						AAGAAACCTGGCACCAACCTA	0.308000												
MPRIP	23164	broad.mit.edu	37	17	17062260	17062260	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:17062260G>A	uc002gqv.2	+	13	2079	c.1990G>A	c.(1990-1992)Gaa>Aaa	p.E664K	MPRIP_uc002gqu.2_Missense_Mutation_p.E664K|MPRIP_uc002gqw.2_Missense_Mutation_p.E419K	NM_015134	NP_055949	Q6WCQ1	MPRIP_HUMAN	Homo sapiens myosin phosphatase Rho interacting protein (MPRIP), transcript variant 1, mRNA.	664	Interaction with RHOA.					cytoplasm|cytoskeleton	actin binding			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						CCTGTCTTCTGAAGATGGGGG	0.612000												
TTN	7273	broad.mit.edu	37	2	179498195	179498195	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:179498195G>A	uc021vsy.1	-	180	35412	c.35187C>T	c.(35185-35187)ggC>ggT	p.G11729G	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Silent_p.G5424G|TTN_uc021vta.1_Silent_p.G5357G|TTN_uc021vtb.1_Silent_p.G5232G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12656	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACACATATTCGCCTTTATCTT	0.428000												
ANK2	287	broad.mit.edu	37	4	114278694	114278694	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:114278694G>A	uc003ibe.4	+	37	9020	c.8920G>A	c.(8920-8922)Gca>Aca	p.A2974T	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.A2989T	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	2941					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CGTTGTAGTGGCAAGCTCCTC	0.413000												
CDC42BPB	9578	broad.mit.edu	37	14	103442313	103442313	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:103442313G>A	uc001ymi.1	-	9	1526	c.1294C>T	c.(1294-1296)Cgg>Tgg	p.R432W		NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	Homo sapiens CDC42 binding protein kinase beta (DMPK-like) (CDC42BPB), mRNA.	432					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TCCAGGTCCCGCTGCACATCC	0.517000												
C17orf97	400566	broad.mit.edu	37	17	263194	263194	+	Missense_Mutation	SNP	G	G	A	rs141704289		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:263194G>A	uc021tna.1	+	1	576	c.560G>A	c.(559-561)cGc>cAc	p.R187H	C17orf97_uc010vpz.1_5'Flank	NM_001013672	NP_001013694	Q6ZQX7	CQ097_HUMAN	Homo sapiens chromosome 17 open reading frame 97 (C17orf97), mRNA.	187								p.R187H(2)|p.R187C(1)		breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						GAAAGGATTCGCATCTATAAA	0.567000												
TASP1	55617	broad.mit.edu	37	20	13604122	13604122	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:13604122C>T	uc002woi.3	-	3	370	c.253G>A	c.(253-255)Gca>Aca	p.A85T	TASP1_uc010zri.1_Non-coding_Transcript|TASP1_uc010zrj.1_Non-coding_Transcript|TASP1_uc010zrk.2_Missense_Mutation_p.A85T	NM_017714	NP_060184	Q9H6P5	TASP1_HUMAN	Homo sapiens taspase, threonine aspartase, 1 (TASP1), mRNA.	85					asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation		threonine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						GCAGTGACTGCGTCAGTTGCA	0.363000												
SCN7A	6332	broad.mit.edu	37	2	167298020	167298020	+	Silent	SNP	C	C	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:167298020C>G	uc002udu.2	-	13	2173	c.2043G>C	c.(2041-2043)gtG>gtC	p.V681V	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	681					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						GAATTCGGAACACATTCAGGA	0.443000												
CACNA1E	777	broad.mit.edu	37	1	181706782	181706782	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:181706782C>T	uc009wxt.3	+	22	3739	c.3544C>T	c.(3544-3546)Cgc>Tgc	p.R1182C	CACNA1E_uc001gow.3_Missense_Mutation_p.R1182C|CACNA1E_uc009wxs.3_Missense_Mutation_p.R1163C|CACNA1E_uc001gox.1_Missense_Mutation_p.R408C	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1182					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.E1181Q(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CAACTCGGAGCGCAACAAAGT	0.597000												
MYH2	4620	broad.mit.edu	37	17	10442798	10442798	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:10442798C>T	uc010coi.3	-	12	1357	c.1229G>A	c.(1228-1230)gGc>gAc	p.G410D	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.G410D|MYH2_uc010coj.3_Missense_Mutation_p.G410D	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	410	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						ATACTCATTGCCGACCTTGAC	0.453000												
CPA1	1357	broad.mit.edu	37	7	130027747	130027747	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:130027747G>A	uc003vpx.3	+	9	1227	c.1155G>A	c.(1153-1155)ggG>ggA	p.G385G		NM_001868	NP_001859	P15085	CBPA1_HUMAN	Homo sapiens carboxypeptidase A1 (pancreatic) (CPA1), mRNA.	385					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					GGGACACTGGGCGCTATGGCT	0.577000												
PCDHGC5	56097	broad.mit.edu	37	5	140784212	140784212	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:140784212C>T	uc003lkh.2	+	0	1693	c.1693C>T	c.(1693-1695)Cct>Tct	p.P565S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc011dax.2_Missense_Mutation_p.P565S	NM_018921	NP_061744	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 9 (PCDHGA9), transcript variant 1, mRNA.	567					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATCCTGTACCCTGCCCTCCC	0.562000												
WDR19	57728	broad.mit.edu	37	4	39278679	39278679	+	Silent	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:39278679A>G	uc003gtv.3	+	33	3910	c.3756A>G	c.(3754-3756)ccA>ccG	p.P1252P	WDR19_uc011byi.2_Silent_p.P1092P	NM_025132	NP_079408	Q8NEZ3	WDR19_HUMAN	Homo sapiens WD repeat domain 19 (WDR19), mRNA.	1252					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						CCACGACTCCATGTCCATTCT	0.423000												
MYOF	26509	broad.mit.edu	37	10	95119595	95119595	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:95119595C>T	uc001kin.3	-	28	3238	c.3115G>A	c.(3115-3117)Gca>Aca	p.A1039T	MYOF_uc001kio.3_Missense_Mutation_p.A1026T|MYOF_uc009xue.3_Non-coding_Transcript	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.	1039					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CTTACCCTTGCGGTGCTTGAA	0.498000												
MTMR10	54893	broad.mit.edu	37	15	31253201	31253201	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:31253201C>T	uc001zfh.1	-	6	739	c.641G>A	c.(640-642)aGc>aAc	p.S214N	MTMR10_uc010azx.1_5'UTR|MTMR10_uc001zfi.1_5'UTR|MTMR10_uc001zfj.3_Missense_Mutation_p.S132N|MTMR10_uc010ubl.1_Non-coding_Transcript	NM_017762	NP_060232	Q9NXD2	MTMRA_HUMAN	Homo sapiens myotubularin related protein 10 (MTMR10), mRNA.	214							phosphatase activity	p.R214Q(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		TTTCTGGCTGCTGCCACCACC	0.468000												
LRRC16A	55604	broad.mit.edu	37	6	25594745	25594745	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:25594745A>G	uc011djw.2	+	31	3477	c.3109A>G	c.(3109-3111)Atg>Gtg	p.M1037V	LRRC16A_uc010jpy.3_Missense_Mutation_p.M1037V	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN	Homo sapiens leucine rich repeat containing 16A (LRRC16A), transcript variant 1, mRNA.	1037	Inhibits capping activity of CAPZA2 (By similarity).				actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						GGTGACCAAAATGGATTCCAA	0.343000												
BAZ2A	11176	broad.mit.edu	37	12	56992460	56992460	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:56992460C>T	uc001slq.1	-	28	5854	c.5660G>A	c.(5659-5661)cGc>cAc	p.R1887H	BAZ2A_uc001slp.1_Missense_Mutation_p.R1885H|BAZ2A_uc001slo.1_Missense_Mutation_p.R693H|BAZ2A_uc009zov.1_Missense_Mutation_p.R853H|BAZ2A_uc009zow.1_Missense_Mutation_p.R1855H	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2A (BAZ2A), mRNA.	1887					DNA methylation|chromatin silencing at rDNA|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|RNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						GAAGAAGCGGCGCATGATGTG	0.562000												
TCEA2	6919	broad.mit.edu	37	20	62703233	62703233	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:62703233G>A	uc021wgq.1	+	8	1486	c.830G>A	c.(829-831)cGc>cAc	p.R277H	TCEA2_uc021wgp.1_Missense_Mutation_p.R250H	NM_003195	NP_942016	Q15560	TCEA2_HUMAN	Homo sapiens transcription elongation factor A (SII), 2 (TCEA2), transcript variant 1, mRNA.	277					regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	transcription elongation factor complex	DNA binding|protein binding|translation elongation factor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)	12	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					GTGCAGACCCGCAGCTCTGAT	0.632000												
PRKRA	8575	broad.mit.edu	37	2	179300958	179300958	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:179300958A>G	uc002umf.3	-	6	899	c.698T>C	c.(697-699)cTc>cCc	p.L233P	MIR548N_uc021vsx.1_Intron|PRKRA_uc002umc.3_Missense_Mutation_p.L65P|PRKRA_uc002umd.3_Missense_Mutation_p.L208P|PRKRA_uc002ume.3_Missense_Mutation_p.L222P|PRKRA_uc002umg.3_Missense_Mutation_p.L120P|PRKRA_uc002umh.1_5'Flank	NM_003690	NP_001132990	O75569	PRKRA_HUMAN	Homo sapiens protein kinase, interferon-inducible double stranded RNA dependent activator (PRKRA), transcript variant 1, mRNA.	233	Sufficient for self-association and interaction with TARBP2.				immune response|negative regulation of cell proliferation|production of siRNA involved in RNA interference|response to virus	perinuclear region of cytoplasm	double-stranded RNA binding|enzyme activator activity|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)			AATACTAAGGAGGCTTCTTTT	0.338000												
THOC2	57187	broad.mit.edu	37	X	122757719	122757719	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:122757719C>G	uc004etu.3	-	27	3454	c.3422G>C	c.(3421-3423)gGt>gCt	p.G1141A	THOC2_uc010nqt.1_5'Flank|THOC2_uc004etw.1_5'Flank	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	Homo sapiens THO complex 2 (THOC2), mRNA.	1141					RNA splicing|intronless viral mRNA export from host nucleus|mRNA processing	THO complex part of transcription export complex	RNA binding|protein binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						CAAAGCTTGACCCAGATTCAA	0.368000												
MACROD2	140733	broad.mit.edu	37	20	14665514	14665514	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:14665514C>T	uc002wou.3	+	4	591	c.327C>T	c.(325-327)gcC>gcT	p.A109A	MACROD2_uc002wot.3_Silent_p.A109A|MACROD2_uc002wox.3_Non-coding_Transcript	NM_080676	NP_542407	A1Z1Q3	MACD2_HUMAN	Homo sapiens MACRO domain containing 2 (MACROD2), transcript variant 1, mRNA.	109	Macro.									breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				ATAGAGCAGCCGGCCCCTGTT	0.418000												
PLCD1	5333	broad.mit.edu	37	3	38061761	38061761	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:38061761C>T	uc003chm.3	-	1	534	c.180G>A	c.(178-180)gaG>gaA	p.E60E	PLCD1_uc003chn.3_Silent_p.E39E	NM_001130964	NP_001124436	P51178	PLCD1_HUMAN	Homo sapiens phospholipase C, delta 1 (PLCD1), transcript variant 1, mRNA.	39	PH.				intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	GTPase activating protein binding|calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.R60W(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		TGTAGAAGCGCTCTCTCCTCC	0.597000												
ENO2	2026	broad.mit.edu	37	12	7025874	7025874	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:7025874C>T	uc001qru.1	+	3	443	c.221C>T	c.(220-222)gCg>gTg	p.A74V	ENO2_uc009zfi.1_Missense_Mutation_p.A74V|ENO2_uc010sfq.1_Intron|ENO2_uc001qrv.1_Missense_Mutation_p.A74V	NM_001975	NP_001966	P09104	ENOG_HUMAN	Homo sapiens enolase 2 (gamma, neuronal) (ENO2), mRNA.	74					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex|plasma membrane	magnesium ion binding|phosphopyruvate hydratase activity			endometrium(3)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						TCCACCATCGCGCCAGCCCTC	0.612000												
C5orf48	389320	broad.mit.edu	37	5	125971793	125971793	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:125971793C>T	uc003kub.1	+	2	278	c.265C>T	c.(265-267)Ctt>Ttt	p.L89F		NM_207408	NP_997291	Q6ZNM6	CE048_HUMAN	Homo sapiens chromosome 5 open reading frame 48 (C5orf48), mRNA.	89										large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	7						CAGTGAAAGGCTTTGCCATGG	0.423000												
PCDHGC5	56097	broad.mit.edu	37	5	140810542	140810542	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:140810542G>A	uc003lkt.2	+	0	385	c.216G>A	c.(214-216)acG>acA	p.T72T	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc011dba.2_Silent_p.T72T	NM_003735	NP_003726	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 12 (PCDHGA12), transcript variant 1, mRNA.	72	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGGTAGGACGCAGCTTTTCG	0.637000												
DHX33	56919	broad.mit.edu	37	17	5365851	5365851	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:5365851G>A	uc002gca.3	-	2	667	c.466C>T	c.(466-468)Cgc>Tgc	p.R156C	DHX33_uc002gbz.3_5'Flank|DHX33_uc002gcb.3_5'UTR|DHX33_uc010clf.3_Intron	NM_020162	NP_001186628	Q9H6R0	DHX33_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 33 (DHX33), transcript variant 1, mRNA.	156	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TCATCAAAGCGCACTGTATAG	0.473000												
FAM122A	116224	broad.mit.edu	37	9	71395646	71395646	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:71395646G>A	uc004agw.1	+	0	683	c.566G>A	c.(565-567)aGc>aAc	p.S189N	PIP5K1B_uc004agu.3_Intron|PIP5K1B_uc011lrq.2_Intron|PIP5K1B_uc004agv.3_Intron	NM_138333	NP_612206	Q96E09	F122A_HUMAN	Homo sapiens family with sequence similarity 122A (FAM122A), mRNA.	189										endometrium(1)|lung(2)	3						AGAAGCCAGAGCCCCATCAAT	0.458000												
SPINK8	646424	broad.mit.edu	37	3	48369810	48369810	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:48369810C>T	uc003csq.1	-	0	22	c.22G>A	c.(22-24)Gcc>Acc	p.A8T		NM_001080525	NP_001073994	P0C7L1	ISK8_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 8 (putative) (SPINK8), mRNA.	8						extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|kidney(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		ACAAGGATGGCGTCTGAGCAG	0.438000												
SYNE2	23224	broad.mit.edu	37	14	64678805	64678805	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:64678805C>T	uc001xgl.3	+	103	19080	c.18850C>T	c.(18850-18852)Cgc>Tgc	p.R6284C	SYNE2_uc001xgm.3_Missense_Mutation_p.R6284C|SYNE2_uc010apy.3_Missense_Mutation_p.R2669C|SYNE2_uc001xgn.3_Missense_Mutation_p.R1246C|SYNE2_uc021rui.1_Missense_Mutation_p.R1288C|SYNE2_uc001xgo.3_Non-coding_Transcript|SYNE2_uc010aqa.3_Missense_Mutation_p.R254C|SYNE2_uc001xgq.3_Missense_Mutation_p.R649C|SYNE2_uc001xgr.3_Missense_Mutation_p.R67C|SYNE2_uc010tsi.2_5'Flank|SYNE2_uc001xgs.3_5'Flank	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	6284					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGACAAGATGCGCCAACTGAA	0.542000												
CHD6	84181	broad.mit.edu	37	20	40111989	40111989	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:40111989G>A	uc002xka.1	-	15	2606	c.2428C>T	c.(2428-2430)Cgc>Tgc	p.R810C	CHD6_uc002xkd.2_Missense_Mutation_p.R788C	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	810	Helicase C-terminal.				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TCGAGGCAGCGCACCATCTGG	0.463000												
MYO5C	55930	broad.mit.edu	37	15	52497304	52497304	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:52497304G>A	uc010bff.3	-	37	4740	c.4578C>T	c.(4576-4578)tcC>tcT	p.S1526S	MYO5C_uc010uga.2_Non-coding_Transcript|AF007131_uc002abv.3_Non-coding_Transcript	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	Homo sapiens myosin VC (MYO5C), mRNA.	1526	Dilute.					myosin complex	ATP binding|actin binding|calmodulin binding|motor activity	p.S1526S(2)		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)		GCTTCAGGCCGGAAATGCCCT	0.597000												
TCP11	6954	broad.mit.edu	37	6	35090014	35090014	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:35090014G>A	uc003okd.2	-	4	678	c.497C>T	c.(496-498)gCc>gTc	p.A166V	TCP11_uc003ojz.1_Missense_Mutation_p.A91V|TCP11_uc003oka.2_Missense_Mutation_p.A91V|TCP11_uc003okb.2_Missense_Mutation_p.A90V|TCP11_uc011dsu.1_Missense_Mutation_p.A148V|TCP11_uc003okc.2_Missense_Mutation_p.A90V|TCP11_uc011dsv.1_Missense_Mutation_p.A115V|TCP11_uc011dsw.1_Missense_Mutation_p.A120V	NM_001093728	NP_001087197	Q8WWU5	TCP11_HUMAN	Homo sapiens t-complex 11 homolog (mouse) (TCP11), transcript variant 1, mRNA.	153					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						GACTTTCAGGGCCCCATGTTC	0.473000												
ANGPTL6	83854	broad.mit.edu	37	19	10203294	10203294	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:10203294C>T	uc002mmy.1	-	5	1576	c.1384G>A	c.(1384-1386)Gcc>Acc	p.A462T	C19orf66_uc002mmu.4_3'UTR|C19orf66_uc002mmv.4_3'UTR|C19orf66_uc002mmw.4_3'UTR|ANGPTL6_uc002mmx.2_Missense_Mutation_p.A462T	NM_031917	NP_114123	Q8NI99	ANGL6_HUMAN	Homo sapiens angiopoietin-like 6 (ANGPTL6), mRNA.	462	Fibrinogen C-terminal.				angiogenesis|cell differentiation|signal transduction	extracellular space	receptor binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)	12			OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)			ATGAGCATGGCGGCCTTCCTG	0.597000												
LPPR1	54886	broad.mit.edu	37	9	104079735	104079735	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:104079735C>A	uc004bbb.3	+	6	1301	c.902C>A	c.(901-903)gCt>gAt	p.A301D	LPPR1_uc011lvi.2_Missense_Mutation_p.A277D|LPPR1_uc004bbc.3_Missense_Mutation_p.A301D|LPPR1_uc010mtc.3_Missense_Mutation_p.A285D	NM_207299	NP_997182	Q8TBJ4	LPPR1_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 1 (LPPR1), transcript variant 1, mRNA.	301						integral to membrane	catalytic activity										CCCCTAATGGCTTTCCCAAGG	0.488000												
SATB2	23314	broad.mit.edu	37	2	200298074	200298074	+	Silent	SNP	C	C	T	rs140116634		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:200298074C>T	uc002uuy.2	-	2	1150	c.333G>A	c.(331-333)gcG>gcA	p.A111A	SATB2_uc010fsq.2_Silent_p.A111A|SATB2_uc002uva.2_Silent_p.A111A|SATB2_uc002uuz.2_Silent_p.A111A	NM_001172509	NP_056080	Q9UPW6	SATB2_HUMAN	Homo sapiens SATB homeobox 2 (SATB2), transcript variant 1, mRNA.	111						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GGGCCTGGGCCGCAGAGCTGT	0.507000												
PSAPL1	768239	broad.mit.edu	37	4	7435640	7435640	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:7435640G>A	uc011bwj.2	-	0	1061	c.967C>T	c.(967-969)Cgc>Tgc	p.R323C	SORCS2_uc003gkb.4_Intron|SORCS2_uc011bwi.2_Intron	NM_001085382	NP_001078851	Q6NUJ1	SAPL1_HUMAN	Homo sapiens prosaposin-like 1 (gene/pseudogene) (PSAPL1), mRNA.	323	Saposin B-type 3.				sphingolipid metabolic process	extracellular region|lysosome				lung(4)	4						GAGCACACGCGCTCCAGGGCA	0.582000												
FREM2	341640	broad.mit.edu	37	13	39262274	39262274	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:39262274C>T	uc001uwv.3	+	0	1102	c.793C>T	c.(793-795)Cgc>Tgc	p.R265C		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	265					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		ACTAGGCGTGCGCTATCGCCA	0.627000												
STRBP	55342	broad.mit.edu	37	9	125898431	125898431	+	Silent	SNP	G	G	A	rs141839908		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:125898431G>A	uc004bns.3	-	15	2104	c.1662C>T	c.(1660-1662)ggC>ggT	p.G554G	STRBP_uc004bnt.3_Silent_p.G372G|STRBP_uc004bnu.3_Silent_p.G540G|STRBP_uc004bnv.3_Silent_p.G554G	NM_018387	NP_001164608	Q96SI9	STRBP_HUMAN	Homo sapiens spermatid perinuclear RNA binding protein (STRBP), transcript variant 1, mRNA.	554	DRBM 2.				multicellular organismal development	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						TTGGACCTGCGCCTCTGAATT	0.388000												
SLCO5A1	81796	broad.mit.edu	37	8	70585449	70585449	+	Silent	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:70585449A>G	uc003xyl.3	-	9	2909	c.2202T>C	c.(2200-2202)ttT>ttC	p.F734F	SLCO5A1_uc010lzb.3_Silent_p.F679F|SLCO5A1_uc011lfa.2_Non-coding_Transcript|SLCO5A1_uc003xyk.3_3'UTR	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.	734						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			ACACAAAACGAAACGACGTCA	0.468000												
CEP250	11190	broad.mit.edu	37	20	34060620	34060620	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:34060620G>A	uc021wco.1	+	11	1820	c.1173G>A	c.(1171-1173)gtG>gtA	p.V391V	CEP250_uc010zve.2_5'UTR|CEP250_uc010zvd.2_Non-coding_Transcript	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	Homo sapiens centrosomal protein 250kDa (CEP250), mRNA.	391					G2/M transition of mitotic cell cycle|centriole-centriole cohesion|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			TTACTCTGGTGCGTTCAGTGC	0.507000												
HARBI1	283254	broad.mit.edu	37	11	46637365	46637365	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:46637365C>T	uc001ncy.3	-	1	671	c.423G>A	c.(421-423)atG>atA	p.M141I	ATG13_uc009yld.3_5'Flank|ATG13_uc001nda.3_5'Flank|ATG13_uc001ndb.3_5'Flank|ATG13_uc001ncz.3_5'Flank|ATG13_uc001ndc.3_5'Flank|ATG13_uc010rgv.2_5'Flank	NM_173811	NP_776172	Q96MB7	HARB1_HUMAN	Homo sapiens harbinger transposase derived 1 (HARBI1), mRNA.	141						cytoplasm|nucleus	metal ion binding|nuclease activity			large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						TCACCCCTGGCATCCCTGCCA	0.507000												
FLT1	2321	broad.mit.edu	37	13	29002038	29002038	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:29002038G>A	uc001usb.3	-	8	1412	c.1127C>T	c.(1126-1128)gCg>gTg	p.A376V	FLT1_uc010aar.1_Missense_Mutation_p.A376V|FLT1_uc001usc.3_Missense_Mutation_p.A376V|FLT1_uc010tdp.1_Missense_Mutation_p.A376V	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	376	Ig-like C2-type 4.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	Golgi apparatus|extracellular space|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	TTTCTCAGTCGCAGGTAACCC	0.398000												
COBLL1	22837	broad.mit.edu	37	2	165548787	165548787	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:165548787G>A	uc002ucp.3	-	12	3580	c.3358C>T	c.(3358-3360)Cga>Tga	p.R1120*	COBLL1_uc002ucq.3_Nonsense_Mutation_p.R1082*|COBLL1_uc010zcw.2_Nonsense_Mutation_p.R1187*|COBLL1_uc010zcx.2_Nonsense_Mutation_p.R1128*|COBLL1_uc002ucn.3_Nonsense_Mutation_p.R548*|COBLL1_uc002uco.3_Nonsense_Mutation_p.R851*	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN	Homo sapiens COBL-like 1 (COBLL1), mRNA.	1158										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						AAACTCTGTCGCATCTGTTCT	0.443000												
DOCK2	1794	broad.mit.edu	37	5	169463553	169463553	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:169463553A>G	uc003maf.3	+	35	3739	c.3659A>G	c.(3658-3660)tAc>tGc	p.Y1220C	DOCK2_uc011der.2_Non-coding_Transcript|DOCK2_uc010jjm.3_Missense_Mutation_p.Y712C	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	1220	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	GTP binding|GTPase binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding|electron carrier activity|heme binding	p.Y1220C(2)|p.Y1220H(1)		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)			GAGGAGATGTACATAAGGTAA	0.418000												
OR8H3	390152	broad.mit.edu	37	11	55889929	55889929	+	Silent	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:55889929T>C	uc001nii.1	+	0	81	c.81T>C	c.(79-81)gcT>gcC	p.A27A		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 3 (OR8H3), mRNA.	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TCCAGATGGCTCTGTTTATGC	0.468000												
SLITRK5	26050	broad.mit.edu	37	13	88329951	88329951	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:88329951G>T	uc001vln.3	+	1	2527	c.2308G>T	c.(2308-2310)Ggc>Tgc	p.G770C	SLITRK5_uc010tic.1_Missense_Mutation_p.G529C|SLITRK5_uc021rlc.1_Missense_Mutation_p.G770C	NM_015567	NP_056382	O94991	SLIK5_HUMAN	Homo sapiens SLIT and NTRK-like family, member 5 (SLITRK5), mRNA.	770						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CTCCCGAGAGGGCAACTCCGT	0.627000												
PABPC3	5042	broad.mit.edu	37	13	25671495	25671495	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:25671495G>A	uc001upy.3	+	0	1220	c.1159G>A	c.(1159-1161)Gca>Aca	p.A387T		NM_030979	NP_112241	Q9H361	PABP3_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 3 (PABPC3), mRNA.	387					mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		GCAGAGAATGGCAAGTGTACG	0.502000												
CTDP1	9150	broad.mit.edu	37	18	77474877	77474877	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:77474877G>A	uc002lnh.2	+	7	1564	c.1417G>A	c.(1417-1419)Gcc>Acc	p.A473T	CTDP1_uc002lni.2_Missense_Mutation_p.A473T|CTDP1_uc010drd.2_Missense_Mutation_p.A473T|CTDP1_uc021ult.1_Missense_Mutation_p.A354T	NM_004715	NP_001189433	Q9Y5B0	CTDP1_HUMAN	Homo sapiens CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 (CTDP1), transcript variant 1, mRNA.	473	Ser-rich.				positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		CTCCTCCTCCGCCTCTGATGG	0.677000												
PTP4A1	7803	broad.mit.edu	37	6	64286802	64286802	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:64286802G>A	uc003pek.3	+	3	1003	c.17G>A	c.(16-18)cGc>cAc	p.R6H	PTP4A1_uc003pel.3_Missense_Mutation_p.R6H|PTP4A1_uc021zbm.1_5'Flank	NM_003463	NP_003454	Q93096	TP4A1_HUMAN	Homo sapiens protein tyrosine phosphatase type IVA, member 1 (PTP4A1), mRNA.	6					cell cycle|multicellular organismal development	early endosome|endoplasmic reticulum|internal side of plasma membrane|spindle	protein binding|protein tyrosine phosphatase activity			large_intestine(3)|lung(4)|skin(1)	8	all_cancers(3;0.071)|all_epithelial(2;0.0146)|Lung NSC(77;0.175)		Epithelial(2;0.0365)|LUSC - Lung squamous cell carcinoma(74;0.0644)|all cancers(2;0.112)|Lung(124;0.13)			CGAATGAACCGCCCAGCTCCT	0.328000												
SLC35F1	222553	broad.mit.edu	37	6	118475668	118475668	+	Silent	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:118475668C>A	uc003pxx.4	+	1	435	c.234C>A	c.(232-234)ggC>ggA	p.G78G		NM_001029858	NP_001025029	Q5T1Q4	S35F1_HUMAN	Homo sapiens solute carrier family 35, member F1 (SLC35F1), mRNA.	78					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		GTGGAATTGGCTTGACTAGCA	0.438000												
TIAM2	26230	broad.mit.edu	37	6	155561791	155561791	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:155561791G>A	uc003qqb.3	+	17	4569	c.3296G>A	c.(3295-3297)cGc>cAc	p.R1099H	TIAM2_uc003qqe.3_Missense_Mutation_p.R1099H|TIAM2_uc010kjj.3_Missense_Mutation_p.R632H|TIAM2_uc003qqf.3_Missense_Mutation_p.R475H|TIAM2_uc011efl.1_Missense_Mutation_p.R435H|TIAM2_uc003qqg.3_Missense_Mutation_p.R411H|TIAM2_uc003qqh.3_Missense_Mutation_p.R24H	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	1099	DH.				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GATGCAGACCGCCTCCGCAAA	0.557000												
RYR1	6261	broad.mit.edu	37	19	39052042	39052042	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:39052042G>A	uc002oit.3	+	89	12702	c.12572G>A	c.(12571-12573)cGc>cAc	p.R4191H	RYR1_uc002oiu.3_Missense_Mutation_p.R4186H|RYR1_uc002oiv.1_Missense_Mutation_p.R1100H	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	4191					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CGCATCGAGCGCATCTACTTC	0.657000												
ZMIZ2	83637	broad.mit.edu	37	7	44796067	44796067	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:44796067G>A	uc003tlr.3	+	2	217	c.94G>A	c.(94-96)Gcc>Acc	p.A32T	ZMIZ2_uc003tlq.3_Missense_Mutation_p.A32T|ZMIZ2_uc003tls.3_Missense_Mutation_p.A32T	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	Homo sapiens zinc finger, MIZ-type containing 2 (ZMIZ2), transcript variant 1, mRNA.	32					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCAACAAAGCGCCACTCAGCC	0.597000												
ADAMTS20	80070	broad.mit.edu	37	12	43826209	43826209	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:43826209G>A	uc010skx.2	-	20	2994	c.2994C>T	c.(2992-2994)ggC>ggT	p.G998G	ADAMTS20_uc001rno.1_Silent_p.G152G|ADAMTS20_uc001rnp.1_Silent_p.G152G	NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	998	TSP type-1 4.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CAAGACGATGGCCAAAGTTAT	0.423000												
INSR	3643	broad.mit.edu	37	19	7141702	7141702	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:7141702G>A	uc002mgd.1	-	12	2777	c.2668C>T	c.(2668-2670)Cga>Tga	p.R890*	INSR_uc002mge.1_Nonsense_Mutation_p.R878*	NM_000208	NP_000199	P06213	INSR_HUMAN	Homo sapiens insulin receptor (INSR), transcript variant 1, mRNA.	890	Fibronectin type-III 3.				G-protein coupled receptor protein signaling pathway|activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of MAPKKK cascade|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|PTB domain binding|SH2 domain binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|receptor signaling protein tyrosine kinase activity			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCACCATATCGCCGATAACTC	0.522000												
LRWD1	222229	broad.mit.edu	37	7	102106665	102106665	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:102106665C>T	uc003uzn.3	+	2	518	c.380C>T	c.(379-381)gCg>gTg	p.A127V	ALKBH4_uc003uzl.3_5'Flank|ALKBH4_uc003uzm.3_5'Flank	NM_152892	NP_690852	Q9UFC0	LRWD1_HUMAN	Homo sapiens leucine-rich repeats and WD repeat domain containing 1 (LRWD1), mRNA.	127					DNA-dependent DNA replication initiation|G1 phase of mitotic cell cycle|chromatin modification|establishment of protein localization to chromatin	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						GGCAAGGATGCGTCCTCAACT	0.542000												
GZF1	64412	broad.mit.edu	37	20	23345592	23345592	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:23345592G>A	uc010gdb.3	+	2	746	c.572G>A	c.(571-573)gGc>gAc	p.G191D	GZF1_uc002wsy.3_Missense_Mutation_p.G191D|GZF1_uc010zsq.2_Intron|GZF1_uc010zsr.2_Intron|GZF1_uc002wsz.3_Missense_Mutation_p.G191D	NM_022482	NP_071927	Q9H116	GZF1_HUMAN	Homo sapiens GDNF-inducible zinc finger protein 1 (GZF1), mRNA.	191					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					GCCAGCAATGGCATGTCTTCA	0.537000												
DPYSL5	56896	broad.mit.edu	37	2	27121505	27121505	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:27121505C>T	uc002rhu.4	+	1	296	c.138C>T	c.(136-138)ggC>ggT	p.G46G	DPYSL5_uc002rhv.4_Silent_p.G46G|DPYSL5_uc021vev.1_Silent_p.G46G	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN	Homo sapiens dihydropyrimidinase-like 5 (DPYSL5), transcript variant 1, mRNA.	46					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	p.G46G(2)		breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGATCCCTGGCGGGGCCAAGG	0.592000												
SYNE1	23345	broad.mit.edu	37	6	152631934	152631934	+	Silent	SNP	G	G	A	rs142010074		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:152631934G>A	uc021zhb.1	-	85	17008	c.16785C>T	c.(16783-16785)agC>agT	p.S5595S	SYNE1_uc003qos.4_Silent_p.S119S|SYNE1_uc003qot.4_Silent_p.S5524S|SYNE1_uc003qou.4_Silent_p.S5595S	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	5595					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TACAGTACACGCTAGTGAGGT	0.433000										HNSCC(10;0.0054)		
FASTKD5	60493	broad.mit.edu	37	20	3128084	3128084	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:3128084G>A	uc021vzx.1	-	0	1633	c.1633C>T	c.(1633-1635)Ctg>Ttg	p.L545L	LOC100134015_uc002whv.1_Intron|UBOX5_uc002whw.3_Intron|UBOX5_uc002whx.3_Intron|UBOX5_uc002why.1_Intron|FASTKD5_uc002whz.3_Silent_p.L545L	NM_021826	NP_068598	Q7L8L6	FAKD5_HUMAN	Homo sapiens FAST kinase domains 5 (FASTKD5), mRNA.	545					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						AAATACCACAGCAATTCAGAC	0.453000												
FBLN1	2192	broad.mit.edu	37	22	45938087	45938087	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:45938087C>T	uc010gzz.3	+	10	1380	c.1233C>T	c.(1231-1233)tgC>tgT	p.C411C	FBLN1_uc003bgg.1_Silent_p.C373C|FBLN1_uc003bgh.3_Silent_p.C373C|FBLN1_uc003bgi.1_Silent_p.C373C|FBLN1_uc003bgj.1_Silent_p.C373C	NM_001996	NP_001987	P23142	FBLN1_HUMAN	Homo sapiens fibulin 1 (FBLN1), transcript variant C, mRNA.	373	EGF-like 6; calcium-binding.|Self-association and FN1-binding; calcium is necessary for homotypic binding, but not for heterotypic binding.				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GACATCGCTGCGTGAACTCTC	0.567000												
NUP214	8021	broad.mit.edu	37	9	134002952	134002952	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:134002952C>A	uc004cag.3	+	1	198	c.87C>A	c.(85-87)gaC>gaA	p.D29E	NUP214_uc004cah.3_Missense_Mutation_p.D29E|NUP214_uc004caf.1_Missense_Mutation_p.D29E	NM_005085	NP_005076	P35658	NU214_HUMAN	Homo sapiens nucleoporin 214kDa (NUP214), mRNA.	29					carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		GAATCTTTGACTCCCCTGAGG	0.418000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""							
SLC35B3	51000	broad.mit.edu	37	6	8428259	8428259	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:8428259G>A	uc011did.2	-	3	707	c.330C>T	c.(328-330)tcC>tcT	p.S110S	SLC35B3_uc003myc.3_Non-coding_Transcript|SLC35B3_uc003myd.3_Non-coding_Transcript|SLC35B3_uc010joe.3_Silent_p.S110S|SLC35B3_uc003myb.3_Silent_p.S110S	NM_001142540	NP_057032	Q9H1N7	S35B3_HUMAN	Homo sapiens solute carrier family 35, member B3 (SLC35B3), transcript variant 2, mRNA.	110					transmembrane transport	Golgi membrane|integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(1)|prostate(1)	15	Ovarian(93;0.0569)					ACCAGCCACAGGACTTAAAAC	0.378000												
PKD1L1	168507	broad.mit.edu	37	7	47842892	47842892	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:47842892G>A	uc003tny.2	-	52	7912	c.7878C>T	c.(7876-7878)tgC>tgT	p.C2626C	C7orf69_uc003tnz.4_Intron|C7orf69_uc003toa.1_Intron	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	2626					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GAAGATAGACGCATTTTAATG	0.502000												
PCDHGC5	56097	broad.mit.edu	37	5	140710396	140710396	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:140710396G>A	uc003lji.2	+	0	145	c.145G>A	c.(145-147)Gcc>Acc	p.A49T	PCDHGC5_uc011dan.2_Missense_Mutation_p.A49T	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	49	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A49T(2)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGCAACATCGCCAAGGACCT	0.557000												
PCDHB11	56125	broad.mit.edu	37	5	140581505	140581505	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:140581505G>A	uc003liy.3	+	0	2158	c.2158G>A	c.(2158-2160)Gcc>Acc	p.A720T		NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	Homo sapiens protocadherin beta 11 (PCDHB11), mRNA.	720					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.A719A(1)		NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGCAGGGCGGCCTCGGTGGG	0.652000												
PLEKHG1	57480	broad.mit.edu	37	6	151152440	151152440	+	Silent	SNP	G	G	A	rs149258837		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:151152440G>A	uc011eem.1	+	14	2458	c.2370G>A	c.(2368-2370)acG>acA	p.T790T	PLEKHG1_uc011eel.1_Silent_p.T771T|PLEKHG1_uc003qny.1_Silent_p.T731T|PLEKHG1_uc003qnz.2_Silent_p.T731T	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 1 (PLEKHG1), mRNA.	731					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)		GCCAAAGCACGCATGAACTCC	0.537000												
FSD2	123722	broad.mit.edu	37	15	83455633	83455633	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:83455633C>A	uc002bjd.2	-	1	677	c.510G>T	c.(508-510)gaG>gaT	p.E170D	FSD2_uc010uol.1_Missense_Mutation_p.E170D|FSD2_uc010uom.1_Missense_Mutation_p.E170D	NM_001007122	NP_001007123	A1L4K1	FSD2_HUMAN	Homo sapiens fibronectin type III and SPRY domain containing 2 (FSD2), mRNA.	170										breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						CTTCTTCATCCTCTTCCTCGG	0.502000												
MEF2D	4209	broad.mit.edu	37	1	156452240	156452240	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:156452240C>T	uc001fpc.3	-	2	637	c.247G>A	c.(247-249)Gac>Aac	p.D83N	MEF2D_uc001fpb.3_Missense_Mutation_p.D83N|MEF2D_uc001fpd.3_Missense_Mutation_p.D83N|MEF2D_uc009wsa.3_Non-coding_Transcript|MEF2D_uc001fpe.1_Missense_Mutation_p.D83N	NM_005920	NP_005911	Q14814	MEF2D_HUMAN	Homo sapiens myocyte enhancer factor 2D (MEF2D), mRNA.	83					apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter	nucleus	RNA polymerase II regulatory region sequence-specific DNA binding|activating transcription factor binding|histone deacetylase binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCGATGATGTCGGCGTTGGTG	0.587000												
WNT3	7473	broad.mit.edu	37	17	44845861	44845861	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:44845861C>T	uc002ikv.2	-	3	1012	c.893G>A	c.(892-894)cGg>cAg	p.R298Q		NM_030753	NP_110380	P56703	WNT3_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 3 (WNT3), mRNA.	298					Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation	early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|signal transducer activity	p.R298W(1)		endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			ATTGCAAGTCCGGTCCCTTGT	0.592000												
GNB2	2783	broad.mit.edu	37	7	100275127	100275127	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:100275127G>A	uc003uwb.3	+	5	547	c.274G>A	c.(274-276)Gcc>Acc	p.A92T	GNB2_uc003uwf.3_5'UTR	NM_005273	NP_005264	P62879	GBB2_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 2 (GNB2), mRNA.	92					G-protein coupled receptor protein signaling pathway|cellular response to glucagon stimulus|energy reserve metabolic process|synaptic transmission	perinuclear region of cytoplasm|plasma membrane	GTPase activity|GTPase binding|signal transducer activity			endometrium(1)|lung(3)|ovary(2)|prostate(1)	7	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)				GCAGGTCCACGCCATCCCGCT	0.677000												
ZNF30	90075	broad.mit.edu	37	19	35434572	35434572	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:35434572C>T	uc010edq.1	+	4	1083	c.705C>T	c.(703-705)tgC>tgT	p.C235C	ZNF30_uc002nxf.2_Silent_p.C153C|ZNF30_uc010edp.1_Silent_p.C234C|ZNF30_uc010edr.1_Silent_p.C235C	NM_001099437	NP_001092908	P17039	ZNF30_HUMAN	Homo sapiens zinc finger protein 30 (ZNF30), transcript variant 2, mRNA.	234					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		CATATGAGTGCGGGGAATGTG	0.433000												
TAAR6	319100	broad.mit.edu	37	6	132891588	132891588	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:132891588C>T	uc011eck.2	+	0	128	c.128C>T	c.(127-129)gCt>gTt	p.A43V		NM_175067	NP_778237	Q96RI8	TAAR6_HUMAN	Homo sapiens trace amine associated receptor 6 (TAAR6), mRNA.	43						plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		GGCTTTGGGGCTGTGCTGGCT	0.537000												
RANBP2	5903	broad.mit.edu	37	2	109382686	109382686	+	Silent	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:109382686A>G	uc002tem.4	+	19	5817	c.5691A>G	c.(5689-5691)ggA>ggG	p.G1897G		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	1897					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CTGCTGATGGATTTAAATTTG	0.383000												
WDR52	55779	broad.mit.edu	37	3	113146042	113146042	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:113146042C>T	uc003ead.2	-	2	312	c.245G>A	c.(244-246)aGc>aAc	p.S82N	WDR52_uc003eae.2_Missense_Mutation_p.S82N	NM_001164496	NP_001157968	Q96MT7	WDR52_HUMAN	Homo sapiens WD repeat domain 52 (WDR52), transcript variant 1, mRNA.	82										breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						ACCTGTAGTGCTTTGCAAATC	0.353000												
TCHH	7062	broad.mit.edu	37	1	152082230	152082230	+	Silent	SNP	T	T	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:152082230T>G	uc009wne.1	-	2	3735	c.3463A>C	c.(3463-3465)Aga>Cga	p.R1155R	TCHH_uc001ezp.2_Silent_p.R1155R	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	1155	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGTTCCTCTCTCAGCAGctgc	0.602000												
WNK2	65268	broad.mit.edu	37	9	96009888	96009888	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:96009888G>A	uc004ati.1	+	6	1606	c.1606G>A	c.(1606-1608)Gtg>Atg	p.V536M	WNK2_uc011lud.1_Missense_Mutation_p.V536M|WNK2_uc004atj.3_Missense_Mutation_p.V536M|WNK2_uc004atk.3_Missense_Mutation_p.V173M|WNK2_uc010mrc.1_Missense_Mutation_p.V536M|WNK2_uc010mrd.1_Missense_Mutation_p.V173M	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	536					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CCGTGACCGCGTGGCCTTGAT	0.622000												
MUC16	94025	broad.mit.edu	37	19	9070156	9070156	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:9070156T>G	uc002mkp.3	-	2	17494	c.17290A>C	c.(17290-17292)Act>Cct	p.T5764P		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5766	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						AAGGCAGGAGTTGATGTAGAA	0.458000												
GPR116	221395	broad.mit.edu	37	6	46828556	46828556	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:46828556C>T	uc003oyo.3	-	15	2564	c.2275G>A	c.(2275-2277)Gcg>Acg	p.A759T	GPR116_uc011dwj.1_Missense_Mutation_p.A314T|GPR116_uc011dwk.1_Missense_Mutation_p.A188T|GPR116_uc003oyp.3_Missense_Mutation_p.A617T|GPR116_uc003oyq.3_Missense_Mutation_p.A759T|GPR116_uc010jzi.1_Missense_Mutation_p.A431T	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	759					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TCATGTTCCGCTTTGTCTATG	0.423000												
CTBP1	1487	broad.mit.edu	37	4	1209971	1209971	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:1209971C>T	uc003gcw.3	-	4	735	c.570G>A	c.(568-570)gcG>gcA	p.A190A	AX747592_uc003gcs.1_Non-coding_Transcript|CTBP1_uc003gcu.1_Silent_p.A179A|CTBP1_uc003gcv.1_Silent_p.A190A	NM_001328	NP_001319	Q13363	CTBP1_HUMAN	Homo sapiens C-terminal binding protein 1 (CTBP1), transcript variant 1, mRNA.	190					interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation	cytoplasm|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		TGGCCCGCAGCGCCACTGCCT	0.682000												
EPHB4	2050	broad.mit.edu	37	7	100421410	100421410	+	Silent	SNP	C	C	T	rs150582750		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:100421410C>T	uc003uwn.1	-	2	758	c.267G>A	c.(265-267)acG>acA	p.T89T	EPHB4_uc003uwm.1_5'UTR|EPHB4_uc010lhj.1_Silent_p.T89T|EPHB4_uc011kkf.1_Silent_p.T89T|EPHB4_uc011kkg.1_Silent_p.T89T|EPHB4_uc011kkh.1_Silent_p.T89T	NM_004444	NP_004435	P54760	EPHB4_HUMAN	Homo sapiens EPH receptor B4 (EPHB4), mRNA.	89					cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					TGAAGCGCAGCGTGGCGTACA	0.672000												
SPTBN2	6712	broad.mit.edu	37	11	66456223	66456223	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:66456223C>T	uc001ojd.3	-	29	6204	c.6132G>A	c.(6130-6132)acG>acA	p.T2044T	SPTBN2_uc001ojc.1_5'Flank	NM_006946	NP_008877	O15020	SPTN2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 2 (SPTBN2), mRNA.	2044					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CTTCGTCGACCGTGCAACCCA	0.607000												
DCHS1	8642	broad.mit.edu	37	11	6661150	6661150	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:6661150G>A	uc001mem.1	-	1	2096	c.1695C>T	c.(1693-1695)agC>agT	p.S565S		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	565	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCAGGGCCACGCTAACTGTGG	0.572000												
LMO7	4008	broad.mit.edu	37	13	76391408	76391408	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:76391408G>A	uc021rkq.1	+	11	2393	c.2058G>A	c.(2056-2058)tgG>tgA	p.W686*	LMO7_uc010thv.2_Nonsense_Mutation_p.W404*|LMO7_uc001vjt.1_Nonsense_Mutation_p.W352*|LMO7_uc001vjv.3_Nonsense_Mutation_p.W453*|LMO7_uc010thw.2_Nonsense_Mutation_p.W303*|LMO7_uc001vjw.1_Nonsense_Mutation_p.W359*	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.	738						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		ATCAGAAATGGCAGGATGTGA	0.393000												
SH3PXD2B	285590	broad.mit.edu	37	5	171777377	171777377	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:171777377G>A	uc003mbr.3	-	9	1173	c.1002C>T	c.(1000-1002)gaC>gaT	p.D334D		NM_001017995	NP_001017995	A1X283	SPD2B_HUMAN	Homo sapiens SH3 and PX domains 2B (SH3PXD2B), mRNA.	334					adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	SH2 domain binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCTGCTTGGCGTCACCGTCGG	0.642000												
C19orf21	126353	broad.mit.edu	37	19	757730	757730	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:757730C>T	uc002lpo.3	+	1	867	c.784C>T	c.(784-786)Cgt>Tgt	p.R262C		NM_173481	NP_775752	Q8IVT2	CS021_HUMAN	Homo sapiens chromosome 19 open reading frame 21 (C19orf21), mRNA.	262										breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014)		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)		GAACAAGGTGCGTGCTGTGCC	0.657000												
PTPRS	5802	broad.mit.edu	37	19	5244179	5244179	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:5244179C>A	uc002mbv.3	-	10	1537	c.1303G>T	c.(1303-1305)Gcc>Tcc	p.A435S	PTPRS_uc002mbu.1_Missense_Mutation_p.A422S|PTPRS_uc010xin.2_Missense_Mutation_p.A422S|PTPRS_uc002mbw.3_Missense_Mutation_p.A422S|PTPRS_uc002mbx.3_Missense_Mutation_p.A426S|PTPRS_uc002mby.3_Missense_Mutation_p.A422S	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA.	435	Fibronectin type-III 2.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		AGCATCCGGGCTTGCACGTTC	0.701000												
CNOT1	23019	broad.mit.edu	37	16	58622736	58622736	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:58622736G>A	uc002env.3	-	2	470	c.177C>T	c.(175-177)ggC>ggT	p.G59G	CNOT1_uc002enw.3_Non-coding_Transcript|CNOT1_uc002enu.4_Silent_p.G59G|CNOT1_uc002enx.3_Silent_p.G59G|CNOT1_uc002enz.1_5'UTR	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA.	59					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)		TTTTACCATCGCCACTGAAAT	0.408000												
ABCA9	10350	broad.mit.edu	37	17	67016615	67016615	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:67016615G>A	uc002jhu.3	-	18	2657	c.2514C>T	c.(2512-2514)ggC>ggT	p.G838G	ABCA9_uc010dez.3_Silent_p.G838G	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA.	838					transport	integral to membrane	ATP binding|ATPase activity	p.G838G(2)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					AGAGCGCCACGCCACTGATTG	0.443000												
OFD1	8481	broad.mit.edu	37	X	13786260	13786260	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:13786260G>A	uc004cvp.4	+	20	3204	c.2845G>A	c.(2845-2847)Gac>Aac	p.D949N	OFD1_uc004cvr.4_Missense_Mutation_p.D479N|OFD1_uc011mil.2_Missense_Mutation_p.D516N|OFD1_uc004cvq.4_Missense_Mutation_p.D772N|OFD1_uc010nen.3_Missense_Mutation_p.D947N|OFD1_uc004cvs.4_Non-coding_Transcript|OFD1_uc004cvu.4_Missense_Mutation_p.D908N|OFD1_uc004cvv.4_Missense_Mutation_p.D907N	NM_003611	NP_003602	O75665	OFD1_HUMAN	Homo sapiens oral-facial-digital syndrome 1 (OFD1), mRNA.	949	Mediates the interaction with SDCCAG8.				G2/M transition of mitotic cell cycle|cilium movement involved in determination of left/right asymmetry	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						AGAAATAAAAGACAAATCTGC	0.358000												
PRPF4	9128	broad.mit.edu	37	9	116053015	116053015	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:116053015G>T	uc004bgx.3	+	11	1294	c.1184G>T	c.(1183-1185)cGc>cTc	p.R395L	PRPF4_uc004bgy.3_Missense_Mutation_p.R394L	NM_004697	NP_004688	O43172	PRP4_HUMAN	Homo sapiens PRP4 pre-mRNA processing factor 4 homolog (yeast) (PRPF4), transcript variant 1, mRNA.	395						Cajal body|U4/U6 snRNP|nuclear speck|spliceosomal complex	protein binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						TGGGACCTACGCACAGGACGT	0.423000												
MYO9A	4649	broad.mit.edu	37	15	72119009	72119009	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:72119009A>G	uc002atl.4	-	41	8032	c.7559T>C	c.(7558-7560)gTc>gCc	p.V2520A	MYO9A_uc002atk.3_Missense_Mutation_p.V1315A	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	Homo sapiens myosin IXA (MYO9A), mRNA.	2520					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	ATP binding|GTPase activator activity|actin binding|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						GCCAGACATGACTGTCCCCTC	0.458000												
C3	718	broad.mit.edu	37	19	6711033	6711033	+	Missense_Mutation	SNP	C	C	T	rs149692538		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:6711033C>T	uc002mfm.3	-	11	1506	c.1444G>A	c.(1444-1446)Gcc>Acc	p.A482T		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	482					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GCCTCGTGGGCGCGGTCCATT	0.607000												
CSPG5	10675	broad.mit.edu	37	3	47604238	47604238	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:47604238G>T	uc003crp.4	-	4	1729	c.1553C>A	c.(1552-1554)gCt>gAt	p.A518D	CSPG5_uc003crm.3_Non-coding_Transcript|CSPG5_uc003crn.3_Missense_Mutation_p.A353D|CSPG5_uc003cro.4_Missense_Mutation_p.A491D|CSPG5_uc021wxh.1_Missense_Mutation_p.L466I|CSPG5_uc021wxi.1_Missense_Mutation_p.A353D|CSPG5_uc011bbb.2_Missense_Mutation_p.A380D	NM_001206943	NP_001193872	O95196	CSPG5_HUMAN	Homo sapiens chondroitin sulfate proteoglycan 5 (neuroglycan C) (CSPG5), transcript variant 3, mRNA.	518					cell differentiation|intracellular transport|nervous system development|regulation of growth	Golgi-associated vesicle membrane|endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	growth factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TTTGTGGGGAGCACTAGGATC	0.473000												
H2AFB3	83740	broad.mit.edu	37	X	154113536	154113536	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:154113536C>T	uc004fmu.3	+	0	220	c.212C>T	c.(211-213)gCg>gTg	p.A71V	F8_uc004fmt.3_Intron|F8_uc004fms.3_Intron|F8A3_uc004fmv.3_5'Flank	NM_080720	NP_001017990	P0C5Z0	H2AB2_HUMAN	Homo sapiens H2A histone family, member B3 (H2AFB3), mRNA.	71					nucleosome assembly	nucleosome|nucleus	DNA binding					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)					CCGGAGCTGGCGGGCAACGAG	0.627000												
TRIM55	84675	broad.mit.edu	37	8	67061935	67061935	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:67061935G>A	uc003xvv.3	+	4	885	c.659G>A	c.(658-660)gGc>gAc	p.G220D	TRIM55_uc003xvu.3_Missense_Mutation_p.G220D|TRIM55_uc003xvw.3_Missense_Mutation_p.G220D|TRIM55_uc003xvx.3_Intron	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	Homo sapiens tripartite motif containing 55 (TRIM55), transcript variant 1, mRNA.	220						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			TACCTGTATGGCATTTTGGAG	0.383000												
ZBTB44	29068	broad.mit.edu	37	11	130108387	130108387	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:130108387G>A	uc001qga.3	-	3	1613	c.1219C>T	c.(1219-1221)Cga>Tga	p.R407*	ZBTB44_uc001qgb.4_Nonsense_Mutation_p.R407*|ZBTB44_uc001qfx.3_Non-coding_Transcript|ZBTB44_uc001qfz.3_Nonsense_Mutation_p.R407*	NM_014155	NP_054874	Q8NCP5	ZBT44_HUMAN	Homo sapiens zinc finger and BTB domain containing 44 (ZBTB44), mRNA.	407					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)		CGGGTGAATCGCACCCCGCAG	0.493000												
GOT1	2805	broad.mit.edu	37	10	101157412	101157412	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:101157412C>T	uc001kpr.3	-	8	1342	c.1134G>A	c.(1132-1134)aaG>aaA	p.K378K		NM_002079	NP_002070	P17174	AATC_HUMAN	Homo sapiens glutamic-oxaloacetic transaminase 1, soluble (aspartate aminotransferase 1) (GOT1), mRNA.	378					aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GGTAGATGTGCTTTTCATTGA	0.458000												
CHRNB1	1140	broad.mit.edu	37	17	7350413	7350413	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:7350413C>T	uc002ghb.3	+	4	446	c.405C>T	c.(403-405)tcC>tcT	p.S135S	CHRNB1_uc010vty.2_Silent_p.S63S|CHRNB1_uc010vtz.1_5'UTR	NM_000747	NP_000738	P11230	ACHB_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 1 (muscle) (CHRNB1), mRNA.	135					behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine binding|receptor activity			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)				TGGTGTCCTCCGACGGCTCCG	0.597000												
ANKRD11	29123	broad.mit.edu	37	16	89348895	89348895	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:89348895T>C	uc002fmx.1	-	8	4516	c.4055A>G	c.(4054-4056)cAc>cGc	p.H1352R	ANKRD11_uc002fmy.1_Missense_Mutation_p.H1352R|ANKRD11_uc002fnc.1_Missense_Mutation_p.H1352R|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Missense_Mutation_p.H1309R	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	1352	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		AGATGAGGAGTGTCTGTGCCT	0.572000												
STXBP1	6812	broad.mit.edu	37	9	130430453	130430453	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:130430453G>A	uc004brk.2	+	9	1086	c.889G>A	c.(889-891)Gca>Aca	p.A297T	STXBP1_uc004brl.2_Missense_Mutation_p.A297T	NM_003165	NP_003156	P61764	STXB1_HUMAN	Homo sapiens syntaxin binding protein 1 (STXBP1), transcript variant 1, mRNA.	297					axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding	p.A297T(6)		breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						CAAGCACATCGCAGAGGTGTC	0.632000												
LPA	4018	broad.mit.edu	37	6	161020532	161020532	+	Splice_Site	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:161020532G>A	uc003qtl.3	-	21	3407	c.3287_splice	c.e21+1	p.A1096_splice		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	3604	Kringle 10.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	AAAGACGTACGCATTTGGGTA	0.488000												
TPTE	7179	broad.mit.edu	37	21	10934961	10934961	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr21:10934961G>T	uc002yip.1	-	14	1200	c.832C>A	c.(832-834)Cac>Aac	p.H278N	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.H260N|TPTE_uc002yir.1_Missense_Mutation_p.H240N|TPTE_uc010gkv.1_Missense_Mutation_p.H140N	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	278	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			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)		ACTCGATAGTGGTTTCGGTGT	0.348000												
RUFY1	80230	broad.mit.edu	37	5	178987036	178987036	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:178987036C>T	uc003mka.1	+	1	321	c.321C>T	c.(319-321)tgC>tgT	p.C107C	RUFY1_uc003mkb.1_5'UTR|RUFY1_uc003mkc.1_5'UTR	NM_025158	NP_001035542	Q96T51	RUFY1_HUMAN	Homo sapiens RUN and FYVE domain containing 1 (RUFY1), transcript variant 1, mRNA.	107					endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTTCTAAGTGCCAGATGATGG	0.602000										HNSCC(44;0.11)		
NOTCH1	4851	broad.mit.edu	37	9	139407576	139407576	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:139407576G>A	uc004chz.3	-	14	2364	c.2364C>T	c.(2362-2364)tgC>tgT	p.C788C	NOTCH1_uc004cia.1_Silent_p.C18C	NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	788	EGF-like 20.				Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGTTGGTCTGGCAGTTGGGAC	0.622000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)		
ZSCAN21	7589	broad.mit.edu	37	7	99662020	99662020	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:99662020C>T	uc003uso.3	+	3	1346	c.1202C>T	c.(1201-1203)gCg>gTg	p.A401V	ZSCAN21_uc003usn.1_Missense_Mutation_p.R366W|ZNF3_uc003usp.3_3'UTR	NM_145914	NP_666019	Q9Y5A6	ZSC21_HUMAN	Homo sapiens zinc finger and SCAN domain containing 21 (ZSCAN21), mRNA.	401					positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			AGTCAGCATGCGGGCCTCAGC	0.522000												
ODZ2	57451	broad.mit.edu	37	5	167645893	167645893	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:167645893G>C	uc010jjd.3	+	22	4970	c.4970G>C	c.(4969-4971)gGc>gCc	p.G1657A	ODZ2_uc003lzr.4_Missense_Mutation_p.G1427A|ODZ2_uc003lzt.4_Missense_Mutation_p.G1030A|ODZ2_uc010jje.3_Missense_Mutation_p.G921A	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		ACCAATGGAGGCCTCAAAGTC	0.577000												
CSPG4	1464	broad.mit.edu	37	15	75968093	75968093	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:75968093T>C	uc002baw.3	-	9	6860	c.6767A>G	c.(6766-6768)gAc>gGc	p.D2256G		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	Homo sapiens chondroitin sulfate proteoglycan 4 (CSPG4), mRNA.	2256					angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GACCTGGACGTCATGCTTGCC	0.617000												
PARD3B	117583	broad.mit.edu	37	2	205986630	205986630	+	Silent	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:205986630C>A	uc002var.2	+	7	1329	c.1122C>A	c.(1120-1122)ggC>ggA	p.G374G	PARD3B_uc010fub.2_Silent_p.G374G|PARD3B_uc002vao.2_Silent_p.G374G|PARD3B_uc002vap.2_Silent_p.G374G|PARD3B_uc002vaq.2_Silent_p.G374G	NM_205863	NP_689739	Q8TEW8	PAR3L_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog B (C. elegans) (PARD3B), mRNA.	374					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)		TGGGATTTGGCAGCAATAAAA	0.388000												
TXNIP	10628	broad.mit.edu	37	1	145440095	145440095	+	Missense_Mutation	SNP	C	C	T	rs143973146	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:145440095C>T	uc001enn.4	+	3	870	c.529C>T	c.(529-531)Cgg>Tgg	p.R177W	TXNIP_uc010oys.2_Missense_Mutation_p.R122W	NM_006472	NP_006463	Q9H3M7	TXNIP_HUMAN	Homo sapiens thioredoxin interacting protein (TXNIP), mRNA.	177			R -> Q (in dbSNP:rs6674773).		cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding	p.R177L(1)		breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCCTGATGGGCGGGTGTCTGT	0.428000												
MAN2B1	4125	broad.mit.edu	37	19	12776194	12776194	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:12776194C>A	uc002mub.2	-	2	484	c.408G>T	c.(406-408)caG>caT	p.Q136H	MAN2B1_uc010dyv.1_Missense_Mutation_p.Q136H|WDR83_uc002muc.3_5'Flank|WDR83_uc002mue.4_5'Flank	NM_000528	NP_000519	O00754	MA2B1_HUMAN	Homo sapiens mannosidase, alpha, class 2B, member 1 (MAN2B1), transcript variant 1, mRNA.	136					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GCACGACTTCCTGTGTGGCAT	0.567000												
GPS2	2874	broad.mit.edu	37	17	7228773	7228773	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:7228773C>T	uc002gga.1	-	7	1393	c.1386G>A	c.(1384-1386)acG>acA	p.T462T	GPS2_uc002ggb.1_Silent_p.T462T|GPS2_uc002ggc.1_5'UTR	NM_032442	NP_115818	Q13227	GPS2_HUMAN	Homo sapiens neuralized homolog 4 (Drosophila) (NEURL4), transcript variant 1, mRNA.	0					JNK cascade|cell cycle|inactivation of MAPK activity|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				CCACTGGGGGCGTCAAGGGGG	0.582000												
NDRG1	10397	broad.mit.edu	37	8	134276800	134276800	+	Silent	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:134276800G>T	uc003yuh.2	-	3	781	c.195C>A	c.(193-195)atC>atA	p.I65I	NDRG1_uc003yug.2_Silent_p.I65I|NDRG1_uc010mee.2_Intron|NDRG1_uc010mef.2_5'UTR|NDRG1_uc011ljh.1_5'UTR|NDRG1_uc011lji.1_Intron	NM_001135242	NP_006087	Q92597	NDRG1_HUMAN	Homo sapiens N-myc downstream regulated 1 (NDRG1), transcript variant 1, mRNA.	65					cellular response to hypoxia|response to metal ion	cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane	protein binding	p.I65S(1)	NDRG1/ERG(5)	endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1)	17	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			GGTTCATGCCGATGTCATGGT	0.572000			T	ERG	prostate							
HECTD1	25831	broad.mit.edu	37	14	31604296	31604296	+	Silent	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:31604296A>G	uc001wrc.1	-	21	3849	c.3360T>C	c.(3358-3360)cgT>cgC	p.R1120R	HECTD1_uc001wrd.1_Silent_p.R635R	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	Homo sapiens HECT domain containing 1 (HECTD1), mRNA.	1120					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CTGAATTATCACGACTTAGTA	0.408000												
LRIT1	26103	broad.mit.edu	37	10	86001151	86001151	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:86001151C>T	uc001kcz.1	-	0	67	c.45G>A	c.(43-45)tgG>tgA	p.W15*		NM_015613	NP_056428	Q9P2V4	LRIT1_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 1 (LRIT1), mRNA.	15						integral to endoplasmic reticulum membrane		p.A14A(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						CCTGGGGGGGCCACGCAAGGG	0.672000												
PRR19	284338	broad.mit.edu	37	19	42814738	42814738	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:42814738C>T	uc002oti.3	+	2	1295	c.917C>T	c.(916-918)cCt>cTt	p.P306L	PRR19_uc002oth.1_3'UTR|PRR19_uc002otj.3_Missense_Mutation_p.P306L|TMEM145_uc002otk.1_5'Flank	NM_199285	NP_954979	A6NJB7	PRR19_HUMAN	Homo sapiens proline rich 19 (PRR19), mRNA.	306	Pro-rich.									NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10		Prostate(69;0.00682)				GTTGGCCTCCCTCAGCCCCTG	0.652000												
DEFB129	140881	broad.mit.edu	37	20	210132	210132	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:210132C>T	uc002wda.3	+	1	303	c.272C>T	c.(271-273)gCt>gTt	p.A91V		NM_080831	NP_543021	Q9H1M3	DB129_HUMAN	Homo sapiens defensin, beta 129 (DEFB129), mRNA.	91					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)			AATTCTAGTGCTGTGATACAA	0.353000												
GUSB	2990	broad.mit.edu	37	7	65439577	65439577	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:65439577G>A	uc003tun.3	-	6	1311	c.1180C>T	c.(1180-1182)Cag>Tag	p.Q394*	GUSB_uc011kdt.2_Nonsense_Mutation_p.Q248*	NM_000181	NP_000172	P08236	BGLR_HUMAN	Homo sapiens glucuronidase, beta (GUSB), mRNA.	394					glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						TCACACATCTGCATCACTTCC	0.612000												
OR2W5	441932	broad.mit.edu	37	1	247654661	247654661	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:247654661G>A	uc001icz.2	+	0	292	c.232G>A	c.(232-234)Gcc>Acc	p.A78T		NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 5 (OR2W5), mRNA.	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			AGCAAGCATTGCCCCTCAGCT	0.527000												
APAF1	317	broad.mit.edu	37	12	99053038	99053038	+	Silent	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:99053038T>C	uc001tfz.3	+	4	1204	c.627T>C	c.(625-627)gaT>gaC	p.D209D	APAF1_uc001tfy.3_Silent_p.D198D|APAF1_uc001tga.3_Silent_p.D198D|APAF1_uc001tgb.3_Silent_p.D209D|APAF1_uc001tgc.3_Silent_p.D209D	NM_181861	NP_863651	O14727	APAF_HUMAN	Homo sapiens apoptotic peptidase activating factor 1 (APAF1), transcript variant 3, mRNA.	209	NB-ARC.				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	Golgi apparatus|cytosol|nucleus	ATP binding|caspase activator activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	TGGATCAGGATGAGAGTTTTT	0.468000												
SMARCC1	6599	broad.mit.edu	37	3	47712178	47712178	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:47712178C>T	uc003crq.2	-	18	1987	c.1869G>A	c.(1867-1869)tgG>tgA	p.W623*	SMARCC1_uc011bbc.1_Non-coding_Transcript|SMARCC1_uc011bbd.1_Nonsense_Mutation_p.W514*	NM_003074	NP_003065	Q92922	SMRC1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 (SMARCC1), mRNA.	623	SANT.				chromatin remodeling|nervous system development|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nucleoplasm	DNA binding|protein N-terminus binding|transcription coactivator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		CCTGTTCAGTCCATTCTCTTC	0.363000												
ALDH1A2	8854	broad.mit.edu	37	15	58357819	58357819	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:58357819G>A	uc002aex.3	-	0	303	c.30C>T	c.(28-30)ggC>ggT	p.G10G	ALDH1A2_uc010ugv.2_5'UTR|ALDH1A2_uc002aey.3_Silent_p.G10G|ALDH1A2_uc010ugw.2_Intron	NM_003888	NP_733798	O94788	AL1A2_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member A2 (ALDH1A2), transcript variant 1, mRNA.	10					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	CCTTCACCTCGCCGGGCATCT	0.706000												
EIF5B	9669	broad.mit.edu	37	2	99978220	99978220	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:99978220A>T	uc002tab.3	+	3	1040	c.856A>T	c.(856-858)Act>Tct	p.T286S		NM_015904	NP_056988	O60841	IF2P_HUMAN	Homo sapiens eukaryotic translation initiation factor 5B (EIF5B), mRNA.	286					regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ATCCAAAGTGACTGTTGATAC	0.378000												
TRAK1	22906	broad.mit.edu	37	3	42240734	42240734	+	Silent	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:42240734T>C	uc003cky.3	+	10	1395	c.1179T>C	c.(1177-1179)tcT>tcC	p.S393S	TRAK1_uc011azh.2_Silent_p.S393S|TRAK1_uc011azi.2_Silent_p.S393S|TRAK1_uc003ckz.4_Silent_p.S319S|TRAK1_uc011azj.2_Silent_p.S319S|TRAK1_uc003cla.3_Silent_p.S335S	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN	Homo sapiens trafficking protein, kinesin binding 1 (TRAK1), transcript variant 1, mRNA.	393	Interaction with HGS.				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						AGGCCGAGTCTCCAGACATCA	0.502000												
STAU1	6780	broad.mit.edu	37	20	47734608	47734608	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:47734608C>T	uc002xud.3	-	10	1626	c.1215G>A	c.(1213-1215)atG>atA	p.M405I	STAU1_uc002xua.3_Missense_Mutation_p.M324I|STAU1_uc002xub.3_Missense_Mutation_p.M330I|STAU1_uc002xuc.3_Missense_Mutation_p.M324I|STAU1_uc002xue.3_Missense_Mutation_p.M324I|STAU1_uc002xuf.3_Missense_Mutation_p.M330I|STAU1_uc002xug.3_Missense_Mutation_p.M405I	NM_017453	NP_059348	O95793	STAU1_HUMAN	Homo sapiens staufen, RNA binding protein, homolog 1 (Drosophila) (STAU1), transcript variant T3, mRNA.	405						microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			TTAGATAAGGCATCCTGAACT	0.498000												
VPS13D	55187	broad.mit.edu	37	1	12387789	12387789	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:12387789G>A	uc001atv.3	+	35	8216	c.8075G>A	c.(8074-8076)aGc>aAc	p.S2692N	VPS13D_uc001atw.3_Missense_Mutation_p.S2692N|VPS13D_uc001atx.3_Missense_Mutation_p.S1880N|VPS13D_uc001aty.1_Missense_Mutation_p.S430N	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	2692					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AGCCGAGATAGCCCAGGGGCT	0.488000												
DCAF8L1	139425	broad.mit.edu	37	X	27997832	27997832	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:27997832C>T	uc004dbx.1	-	0	1735	c.1620G>A	c.(1618-1620)acG>acA	p.T540T		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 8-like 1 (DCAF8L1), mRNA.	540								p.T540T(2)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CAAACGAGTCCGTATAGTTCA	0.488000												
CROT	54677	broad.mit.edu	37	7	87006753	87006753	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:87006753G>A	uc003uiu.3	+	10	1294	c.1049G>A	c.(1048-1050)gGc>gAc	p.G350D	CROT_uc003uit.3_Missense_Mutation_p.G322D	NM_001143935	NP_001137407	Q9UKG9	OCTC_HUMAN	Homo sapiens carnitine O-octanoyltransferase (CROT), transcript variant 1, mRNA.	322					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	GGAGTATTTGGCTGTAATTGT	0.323000												
WDR17	116966	broad.mit.edu	37	4	177041100	177041100	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:177041100G>A	uc003iuj.3	+	4	765	c.462G>A	c.(460-462)tgG>tgA	p.W154*	WDR17_uc003ium.4_Nonsense_Mutation_p.W130*|WDR17_uc003iul.2_Intron	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	Homo sapiens WD repeat domain 17 (WDR17), transcript variant 1, mRNA.	154										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TGTTCATTTGGACCATCTCAG	0.453000												
TRPS1	7227	broad.mit.edu	37	8	116632282	116632282	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:116632282C>T	uc003yny.3	-	2	621	c.43G>A	c.(43-45)Gtc>Atc	p.V15I	TRPS1_uc011lhy.2_Missense_Mutation_p.V6I|TRPS1_uc003ynz.3_Missense_Mutation_p.V2I|TRPS1_uc010mcy.3_Missense_Mutation_p.V2I	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Homo sapiens trichorhinophalangeal syndrome I (TRPS1), mRNA.	2					NLS-bearing substrate import into nucleus|negative regulation of transcription from RNA polymerase II promoter|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V15I(1)|p.V2I(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TTTTTCCGGACCATATCTGCA	0.408000									Langer-Giedion syndrome			
PLCB2	5330	broad.mit.edu	37	15	40591154	40591154	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:40591154G>A	uc001zld.3	-	8	996	c.695C>T	c.(694-696)gCc>gTc	p.A232V	PLCB2_uc010bbo.3_Missense_Mutation_p.A232V|PLCB2_uc010ucm.2_Missense_Mutation_p.A232V	NM_004573	NP_004564	Q00722	PLCB2_HUMAN	Homo sapiens phospholipase C, beta 2 (PLCB2), mRNA.	232					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		GTAGGGTTTGGCCTTAGCATG	0.572000												
PM20D2	135293	broad.mit.edu	37	6	89868083	89868083	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:89868083C>A	uc003pmz.3	+	4	1047	c.952C>A	c.(952-954)Ctt>Att	p.L318I		NM_001010853	NP_001010853	Q8IYS1	P20D2_HUMAN	Homo sapiens peptidase M20 domain containing 2 (PM20D2), mRNA.	318							hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|skin(1)	12		all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00813)		TTACAATGTTCTTCCCAATAA	0.313000												
HRH4	59340	broad.mit.edu	37	18	22048786	22048786	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:22048786G>A	uc002kvi.3	+	1	328	c.228G>A	c.(226-228)acG>acA	p.T76T	HRH4_uc010xbd.2_Intron|HRH4_uc010dlx.3_Intron	NM_021624	NP_067637	Q9H3N8	HRH4_HUMAN	Homo sapiens histamine receptor H4 (HRH4), transcript variant 1, mRNA.	76						integral to membrane|plasma membrane	histamine receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Clozapine(DB00363)	TCCCTCACACGCTGTTCGAAT	0.393000												
SEL1L2	80343	broad.mit.edu	37	20	13839962	13839962	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:13839962C>T	uc010gcf.3	-	17	1846	c.1764G>A	c.(1762-1764)gcG>gcA	p.A588A	SEL1L2_uc002woq.4_Silent_p.A449A|SEL1L2_uc010zrl.2_Intron|SEL1L2_uc002wor.3_Non-coding_Transcript	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 2 (C. elegans) (SEL1L2), mRNA.	588						integral to membrane	binding	p.A588V(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						ACATGGCTTGCGCGTTGTGGT	0.403000												
LUZP4	51213	broad.mit.edu	37	X	114536676	114536676	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:114536676C>T	uc004eqa.3	+	1	245	c.211C>T	c.(211-213)Cgc>Tgc	p.R71C	LUZP4_uc004eqb.3_Silent_p.I28I	NM_016383	NP_057467	Q9P127	LUZP4_HUMAN	Homo sapiens leucine zipper protein 4 (LUZP4), mRNA.	71						nucleus				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						TCATAGACATCGCCATCGGAG	0.348000												
CNTD1	124817	broad.mit.edu	37	17	40958800	40958800	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:40958800C>T	uc002ibm.4	+	4	921	c.689C>T	c.(688-690)gCt>gTt	p.A230V	CNTD1_uc010wha.2_Missense_Mutation_p.A147V	NM_173478	NP_775749	Q8N815	CNTD1_HUMAN	Homo sapiens cyclin N-terminal domain containing 1 (CNTD1), mRNA.	230										central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CTGTTGAGGGCTTCAATTGAG	0.527000												
ACSL4	2182	broad.mit.edu	37	X	108887403	108887403	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:108887403C>T	uc004eoi.2	-	16	2496	c.1991G>A	c.(1990-1992)cGa>cAa	p.R664Q	ACSL4_uc004eoj.2_Missense_Mutation_p.R623Q|ACSL4_uc004eok.2_Missense_Mutation_p.R623Q	NM_022977	NP_004449	O60488	ACSL4_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 4 (ACSL4), transcript variant 2, mRNA.	664					fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Troglitazone(DB00197)	AATTTCAAATCGCTCCAATTT	0.473000												
C12orf60	144608	broad.mit.edu	37	12	14976279	14976279	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:14976279A>G	uc001rcj.4	+	1	614	c.410A>G	c.(409-411)gAa>gGa	p.E137G	C12orf60_uc021qvq.1_Missense_Mutation_p.E137G	NM_175874	NP_787070	Q5U649	CL060_HUMAN	Homo sapiens chromosome 12 open reading frame 60 (C12orf60), mRNA.	137										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	9						GGGAGTCTGGAATCTTCTCTT	0.413000												
LAMC1	3915	broad.mit.edu	37	1	183105532	183105532	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:183105532C>T	uc001gpy.4	+	24	4383	c.4126C>T	c.(4126-4128)Cgt>Tgt	p.R1376C		NM_002293	NP_002284	P11047	LAMC1_HUMAN	Homo sapiens laminin, gamma 1 (formerly LAMB2) (LAMC1), mRNA.	1376	Domain II and I.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTTTGATAGGCGTGTGAACGA	0.453000												
TNKS	8658	broad.mit.edu	37	8	9567472	9567472	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:9567472C>T	uc003wss.3	+	9	1591	c.1586C>T	c.(1585-1587)gCt>gTt	p.A529V	TNKS_uc011kwv.1_Missense_Mutation_p.A529V|TNKS_uc011kww.2_Missense_Mutation_p.A292V	NM_003747	NP_003738	O95271	TNKS1_HUMAN	Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase (TNKS), mRNA.	529					Wnt receptor signaling pathway|mRNA transport|mitotic spindle organization|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport	Golgi membrane|chromosome, centromeric region|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		TAGCACTGTGCTGTGGCCTCT	0.333000												
MYO10	4651	broad.mit.edu	37	5	16818205	16818205	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:16818205G>A	uc003jft.4	-	2	660	c.192C>T	c.(190-192)ggC>ggT	p.G64G	MYO10_uc003jfu.2_Silent_p.G31G|MYO10_uc003jfv.2_Silent_p.G64G	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	Homo sapiens myosin X (MYO10), mRNA.	64	Myosin head-like.				axon guidance|signal transduction	myosin complex	ATP binding|actin binding|motor activity	p.G64G(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TGTCATCCACGCCCTCCTCGT	0.463000												
GNL3L	54552	broad.mit.edu	37	X	54584945	54584945	+	Missense_Mutation	SNP	G	G	A	rs145061026		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:54584945G>A	uc022bxi.1	+	14	1779	c.1523G>A	c.(1522-1524)cGc>cAc	p.R508H	GNL3L_uc004dti.3_Non-coding_Transcript|GNL3L_uc004dth.2_Missense_Mutation_p.R508H	NM_001184819	NP_061940	Q9NVN8	GNL3L_HUMAN	Homo sapiens guanine nucleotide binding protein-like 3 (nucleolar)-like (GNL3L), transcript variant 1, mRNA.	508					ribosome biogenesis	nucleolus	GTP binding			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						GTGGACCACCGCCCTAAGAGC	0.552000												
MYO3B	140469	broad.mit.edu	37	2	171264268	171264268	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:171264268C>A	uc002ufy.3	+	21	2707	c.2564C>A	c.(2563-2565)aCt>aAt	p.T855N	MYO3B_uc002ufv.3_Missense_Mutation_p.T842N|MYO3B_uc010fqb.1_Missense_Mutation_p.T855N|MYO3B_uc002ufz.3_Missense_Mutation_p.T855N|MYO3B_uc002ufw.3_Non-coding_Transcript|MYO3B_uc002ufx.3_Non-coding_Transcript|MYO3B_uc002ugb.3_Non-coding_Transcript	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	Homo sapiens myosin IIIB (MYO3B), transcript variant 2, mRNA.	855	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	ATP binding|actin binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						AATAGAGACACTCTCCCTGCC	0.458000												
PCDHGC5	56097	broad.mit.edu	37	5	140812003	140812003	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:140812003G>A	uc003lkt.2	+	0	1846	c.1677G>A	c.(1675-1677)gcG>gcA	p.A559A	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc011dba.2_Silent_p.A559A	NM_003735	NP_003726	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 12 (PCDHGA12), transcript variant 1, mRNA.	561	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGACAATGCGCCCGAGATCC	0.657000												
VPS16	64601	broad.mit.edu	37	20	2844008	2844008	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:2844008C>T	uc002whe.3	+	14	1488	c.1440C>T	c.(1438-1440)ggC>ggT	p.G480G	PTPRA_uc002whj.3_5'Flank|VPS16_uc002whf.3_Silent_p.G336G|VPS16_uc002whg.3_Silent_p.G166G	NM_022575	NP_072097	Q9H269	VPS16_HUMAN	Homo sapiens vacuolar protein sorting 16 homolog (S. cerevisiae) (VPS16), transcript variant 1, mRNA.	480					intracellular protein transport	HOPS complex|early endosome|late endosome membrane|lysosomal membrane|recycling endosome				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						AAGTACAGGGCGTCAGCAGGA	0.582000												
PCDH10	57575	broad.mit.edu	37	4	134073864	134073864	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:134073864G>A	uc003iha.3	+	0	3395	c.2569G>A	c.(2569-2571)Gtc>Atc	p.V857I	PCDH10_uc003igz.3_Missense_Mutation_p.V857I	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	Homo sapiens protocadherin 10 (PCDH10), transcript variant 1, mRNA.	857					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CGGGGCCATCGTCACCGGTTA	0.572000												
DGCR14	8220	broad.mit.edu	37	22	19127471	19127471	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:19127471G>A	uc002zou.3	-	3	504	c.467C>T	c.(466-468)aCg>aTg	p.T156M		NM_022719	NP_073210	Q96DF8	DGC14_HUMAN	Homo sapiens DiGeorge syndrome critical region gene 14 (DGCR14), mRNA.	156					nervous system development	catalytic step 2 spliceosome				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					GTCCTCACTCGTGTAGCGGCT	0.607000												
DOPEY1	23033	broad.mit.edu	37	6	83877659	83877659	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:83877659C>T	uc011dyy.2	+	39	7464	c.7204C>T	c.(7204-7206)Cgc>Tgc	p.R2402C	PGM3_uc003pju.2_3'UTR|PGM3_uc003pjw.3_3'UTR|PGM3_uc011dyz.2_3'UTR|PGM3_uc021zcd.1_Intron|DOPEY1_uc003pjs.1_Missense_Mutation_p.R2391C|DOPEY1_uc010kbl.1_Missense_Mutation_p.R2382C|DOPEY1_uc003pjt.3_Non-coding_Transcript	NM_001199942	NP_001186871	Q5JWR5	DOP1_HUMAN	Homo sapiens dopey family member 1 (DOPEY1), transcript variant 2, mRNA.	2391					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		CTGCACCGTGCGCAGTATGGA	0.512000												
NUCB1	4924	broad.mit.edu	37	19	49416353	49416353	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:49416353G>A	uc002plb.4	+	5	900	c.566G>A	c.(565-567)cGt>cAt	p.R189H	NUCB1_uc002pla.3_Missense_Mutation_p.R189H|Mir_324_uc021uxb.1_5'Flank	NM_006184	NP_006175	Q02818	NUCB1_HUMAN	Homo sapiens nucleobindin 1 (NUCB1), mRNA.	189						ER-Golgi intermediate compartment|Golgi apparatus|extracellular space|membrane|microtubule cytoskeleton	DNA binding|calcium ion binding	p.R188W(1)		cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		GAGAGACGGCGTTATCTGGAG	0.592000												
PIWIL4	143689	broad.mit.edu	37	11	94326774	94326774	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:94326774G>A	uc001pfa.3	+	8	1328	c.1117G>A	c.(1117-1119)Gcc>Acc	p.A373T	PIWIL4_uc010rue.1_Non-coding_Transcript|PIWIL4_uc009ywk.2_Non-coding_Transcript	NM_152431	NP_689644	Q7Z3Z4	PIWL4_HUMAN	Homo sapiens piwi-like 4 (Drosophila) (PIWIL4), mRNA.	373	PAZ.				DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GGCTCAGCTCGCCCACCTGAT	0.458000												
MDGA1	266727	broad.mit.edu	37	6	37622633	37622633	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:37622633G>A	uc003onu.1	-	4	1834	c.655C>T	c.(655-657)Cgt>Tgt	p.R219C	MDGA1_uc003onw.3_5'Flank	NM_153487	NP_705691	Q8NFP4	MDGA1_HUMAN	Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 1 (MDGA1), mRNA.	219	Ig-like 2.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						CACACGTTACGCACAGACACC	0.602000												
SETD3	84193	broad.mit.edu	37	14	99865307	99865307	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:99865307C>T	uc001ygc.3	-	12	1664	c.1494G>A	c.(1492-1494)ccG>ccA	p.P498P		NM_032233	NP_115609	Q86TU7	SETD3_HUMAN	Homo sapiens SET domain containing 3 (SETD3), transcript variant 1, mRNA.	498					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity	p.P498L(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				ATTTGGGAAGCGGAGCCTTTT	0.517000												
COL22A1	169044	broad.mit.edu	37	8	139833507	139833507	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:139833507C>T	uc003yvd.3	-	6	1564	c.1117G>A	c.(1117-1119)Gcc>Acc	p.A373T		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	373	TSP N-terminal.				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)			ACGTTCTGGGCCTGGATGCTC	0.562000										HNSCC(7;0.00092)		
NWD1	284434	broad.mit.edu	37	19	16918398	16918398	+	Splice_Site	SNP	C	C	T	rs113245603		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:16918398C>T	uc002neu.4	+	18	4159	c.3737_splice	c.e18-1	p.G1246_splice	NWD1_uc002net.4_Splice_Site_p.G1111_splice|NWD1_uc002nev.4_Splice_Site_p.G1040_splice|NWD1_uc021uqg.1_Splice_Site_p.G1111_splice	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	1246							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCCTGGCAGGCGAGGAACAAG	0.507000												
SLC38A7	55238	broad.mit.edu	37	16	58712668	58712668	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:58712668G>A	uc002eod.1	-	3	794	c.401C>T	c.(400-402)gCc>gTc	p.A134V	SLC38A7_uc002eoc.1_Missense_Mutation_p.A134V|SLC38A7_uc010vil.1_Missense_Mutation_p.A45V|SLC38A7_uc002eoe.1_Missense_Mutation_p.A134V	NM_018231	NP_060701	Q9NVC3	S38A7_HUMAN	Homo sapiens solute carrier family 38, member 7 (SLC38A7), mRNA.	134					amino acid transport|sodium ion transport	integral to membrane				endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						GACAGCGATGGCCACCTCACA	0.567000												
CCNJL	79616	broad.mit.edu	37	5	159680757	159680757	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:159680757G>A	uc003lyb.1	-	6	1188	c.936C>T	c.(934-936)gcC>gcT	p.A312A	CCNJL_uc011dee.1_Silent_p.A264A|CCNJL_uc003lyc.1_Non-coding_Transcript	NM_024565	NP_078841	Q8IV13	CCNJL_HUMAN	Homo sapiens cyclin J-like (CCNJL), mRNA.	312						nucleus				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCATTGCCAAGGCCTGGCTCT	0.627000												
SLC32A1	140679	broad.mit.edu	37	20	37356122	37356122	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:37356122G>A	uc002xjc.3	+	1	681	c.418G>A	c.(418-420)Gcc>Acc	p.A140T		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	Homo sapiens solute carrier family 32 (GABA vesicular transporter), member 1 (SLC32A1), mRNA.	140					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity	p.Y139C(1)		breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CCTACCCTACGCCATCCTGCA	0.647000												
SH3KBP1	30011	broad.mit.edu	37	X	19649997	19649997	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:19649997G>A	uc004czm.3	-	7	1198	c.882C>T	c.(880-882)gtC>gtT	p.V294V	SH3KBP1_uc011mje.2_Silent_p.V33V|SH3KBP1_uc011mjf.2_Silent_p.V56V|SH3KBP1_uc004czl.3_Silent_p.V257V	NM_031892	NP_114098	Q96B97	SH3K1_HUMAN	Homo sapiens SH3-domain kinase binding protein 1 (SH3KBP1), transcript variant 1, mRNA.	294	SH3 3.				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						TGATGAGAGTGACTATATCTC	0.378000												
CDHR3	222256	broad.mit.edu	37	7	105662698	105662698	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:105662698G>A	uc003vdl.4	+	13	1988	c.1880G>A	c.(1879-1881)cGc>cAc	p.R627H	CDHR3_uc003vdk.3_Intron|CDHR3_uc003vdm.4_Missense_Mutation_p.R614H|CDHR3_uc011klt.2_Missense_Mutation_p.R539H|CDHR3_uc003vdn.3_Intron	NM_152750	NP_689963	Q6ZTQ4	CDHR3_HUMAN	Homo sapiens cadherin-related family member 3 (CDHR3), mRNA.	627	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						AATGTCACACGCCTGCTGCTT	0.438000												
SPDYE5	442590	broad.mit.edu	37	7	75130895	75130895	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:75130895C>T	uc011kfy.2	+	5	906	c.770C>T	c.(769-771)cCg>cTg	p.P257L	DQ601342_uc022agh.1_5'Flank	NM_001099435	NP_001092905	A6NIY4	SPDE5_HUMAN	Homo sapiens speedy homolog E5 (Xenopus laevis) (SPDYE5), mRNA.	257	Arg-rich.																TCCATGAACCCGAGGGCCAGG	0.592000												
SNX9	51429	broad.mit.edu	37	6	158330785	158330785	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:158330785G>A	uc003qqv.1	+	7	967	c.794G>A	c.(793-795)gGt>gAt	p.G265D		NM_016224	NP_057308	Q9Y5X1	SNX9_HUMAN	Homo sapiens sorting nexin 9 (SNX9), mRNA.	265	PX.				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		AAAATGTATGGTCTAAAGAGC	0.413000												
DIP2B	57609	broad.mit.edu	37	12	51138606	51138606	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:51138606T>C	uc001rwv.3	+	37	4871	c.4715T>C	c.(4714-4716)gTg>gCg	p.V1572A	DIP2B_uc009zlt.3_Missense_Mutation_p.V1002A	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog B (Drosophila) (DIP2B), mRNA.	1572						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						CCCATCTACGTGGCTTATAAC	0.522000												
TTN	7273	broad.mit.edu	37	2	179393094	179393094	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:179393094G>A	uc021vsy.1	-	309	99805	c.99580C>T	c.(99580-99582)Cga>Tga	p.R33194*	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Nonsense_Mutation_p.R26889*|TTN_uc021vta.1_Nonsense_Mutation_p.R26822*|TTN_uc021vtb.1_Nonsense_Mutation_p.R26697*|TTN_uc002umq.3_Nonsense_Mutation_p.R211*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	34121							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)			GATGCATTTCGGATTTCAAGG	0.393000												
GANAB	23193	broad.mit.edu	37	11	62400959	62400959	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:62400959G>A	uc001nua.3	-	6	687	c.654C>T	c.(652-654)ggC>ggT	p.G218G	GANAB_uc001nub.3_Silent_p.G196G|GANAB_uc001nuc.3_Silent_p.G99G|GANAB_uc010rma.2_Silent_p.G104G|GANAB_uc010rmb.2_Silent_p.G82G	NM_198335	NP_938149	Q14697	GANAB_HUMAN	Homo sapiens glucosidase, alpha; neutral AB (GANAB), transcript variant 3, mRNA.	196					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	Golgi apparatus|endoplasmic reticulum lumen|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						GGGCCCCATCGCCCTCAGCTG	0.637000												
MAPK8IP1	9479	broad.mit.edu	37	11	45925641	45925641	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:45925641G>A	uc001nbr.3	+	6	1920	c.1595G>A	c.(1594-1596)cGc>cAc	p.R532H		NM_005456	NP_005447	Q9UQF2	JIP1_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 1 (MAPK8IP1), mRNA.	532	SH3.				vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	MAP-kinase scaffold activity|kinesin binding|protein kinase inhibitor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		TACAACATGCGCACTGGTGCC	0.592000												
IL17RA	23765	broad.mit.edu	37	22	17581248	17581248	+	Missense_Mutation	SNP	C	C	T	rs145378071	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:17581248C>T	uc002zly.3	+	4	558	c.427C>T	c.(427-429)Cgt>Tgt	p.R143C		NM_014339	NP_055154	Q96F46	I17RA_HUMAN	Homo sapiens interleukin 17 receptor A (IL17RA), mRNA.	143					fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		TCTTCAGTGGCGTTTTACCTT	0.547000												
STAT1	6772	broad.mit.edu	37	2	191851675	191851675	+	Splice_Site	SNP	T	T	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:191851675T>G	uc010fse.2	-	13	1560	c.1128_splice	c.e13-1	p.G376_splice	STAT1_uc021vue.1_Splice_Site_p.G188_splice|STAT1_uc002usj.2_Splice_Site_p.G376_splice|STAT1_uc002usk.2_Splice_Site_p.G376_splice|STAT1_uc002usl.2_Splice_Site_p.G378_splice|STAT1_uc010fsf.1_Splice_Site_p.G188_splice	NM_007315	NP_009330	P42224	STAT1_HUMAN	Homo sapiens signal transducer and activator of transcription 1, 91kDa (STAT1), transcript variant alpha, mRNA.	376					I-kappaB kinase/NF-kappaB cascade|activation of caspase activity|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|calcium ion binding|protein binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	TTCCTAAATCTATACAATATA	0.398000												
MYOCD	93649	broad.mit.edu	37	17	12656117	12656117	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:12656117C>T	uc002gno.2	+	9	1811	c.1512C>T	c.(1510-1512)ggC>ggT	p.G504G	MYOCD_uc002gnn.2_Silent_p.G504G|MYOCD_uc002gnp.1_Silent_p.G408G|MYOCD_uc002gnq.2_Silent_p.G223G	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	504	Ser-rich.				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	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|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)		TGAATGGGGGCTCTGTTCCTT	0.577000												
MLL3	58508	broad.mit.edu	37	7	151873336	151873336	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:151873336G>A	uc003wla.3	-	37	9421	c.9202C>T	c.(9202-9204)Cag>Tag	p.Q3068*	MLL3_uc003wkz.3_Nonsense_Mutation_p.Q2129*|MLL3_uc003wky.3_Nonsense_Mutation_p.Q577*	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	3068	Gln-rich.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		TGTCTTTGCTGCTGCTGTTCT	0.433000			N		medulloblastoma							
IGF2R	3482	broad.mit.edu	37	6	160468277	160468277	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:160468277C>T	uc003qta.3	+	15	2286	c.2138C>T	c.(2137-2139)aCa>aTa	p.T713I		NM_000876	NP_000867	P11717	MPRI_HUMAN	Homo sapiens insulin-like growth factor 2 receptor (IGF2R), mRNA.	713					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		AGAGGCGGCACACCCTATAAC	0.463000												
RABEP1	9135	broad.mit.edu	37	17	5264580	5264580	+	Silent	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:5264580T>C	uc002gbm.4	+	8	1397	c.1173T>C	c.(1171-1173)agT>agC	p.S391S	RABEP1_uc010clc.1_Silent_p.S384S|RABEP1_uc010cld.1_Silent_p.S348S|RABEP1_uc010vsw.1_Silent_p.S348S|RABEP1_uc002gbl.4_Silent_p.S391S|NUP88_uc002gbn.3_Non-coding_Transcript	NM_004703	NP_004694	Q15276	RABE1_HUMAN	Homo sapiens rabaptin, RAB GTPase binding effector protein 1 (RABEP1), transcript variant 1, mRNA.	391					apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	GTPase activator activity|growth factor activity|protein homodimerization activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						ATCCTTTCAGTAAATCGGACA	0.453000												
SEMA3A	10371	broad.mit.edu	37	7	83590759	83590759	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:83590759C>A	uc003uhz.3	-	16	2559	c.2244G>T	c.(2242-2244)aaG>aaT	p.K748N		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A (SEMA3A), mRNA.	748	Arg/Lys-rich (basic).				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						CTTGTAAGTGCTTCCATTTGT	0.458000												
ARHGAP39	80728	broad.mit.edu	37	8	145770858	145770858	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:145770858C>T	uc003zds.1	-	6	2851	c.2296G>A	c.(2296-2298)Gtg>Atg	p.V766M	ARHGAP39_uc011llk.1_Missense_Mutation_p.V766M|ARHGAP39_uc003zdt.1_Missense_Mutation_p.V766M	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	Homo sapiens Rho GTPase activating protein 39 (ARHGAP39), mRNA.	766	MyTH4.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						TCCAGGGCCACGTGCAGTGGG	0.657000												
RAG1	5896	broad.mit.edu	37	11	36595270	36595270	+	Missense_Mutation	SNP	G	G	A	rs140648865		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:36595270G>A	uc021qgb.1	+	0	416	c.416G>A	c.(415-417)gGc>gAc	p.G139D	RAG1_uc001mwt.3_Non-coding_Transcript|RAG1_uc001mwu.4_Missense_Mutation_p.G139D	NM_000448	NP_000439	P15918	RAG1_HUMAN	Homo sapiens recombination activating gene 1 (RAG1), mRNA.	139	Interaction with importin alpha-1.				T cell differentiation in thymus|V(D)J recombination|histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				AAAACCCTAGGCCTTTTACGA	0.498000									Familial Hemophagocytic Lymphohistiocytosis			
LENG8	114823	broad.mit.edu	37	19	54967409	54967409	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:54967409G>A	uc002qfv.1	+	7	1322	c.1178G>A	c.(1177-1179)cGc>cAc	p.R393H	LENG8_uc002qfw.2_Missense_Mutation_p.R430H			Q96PV6	LENG8_HUMAN	Homo sapiens leukocyte receptor cluster (LRC) member 8 (LENG8), mRNA.	393	Ser-rich.						protein binding	p.R430H(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		TCCCCGACGCGCCACTTCCGC	0.617000												
NEB	4703	broad.mit.edu	37	2	152500390	152500390	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:152500390C>T	uc021vrb.1	-	54	7927	c.7898G>A	c.(7897-7899)tGc>tAc	p.C2633Y	NEB_uc002txu.3_Missense_Mutation_p.C2633Y|NEB_uc021vrc.1_Missense_Mutation_p.C2633Y|NEB_uc010fnx.3_Missense_Mutation_p.C2633Y|NEB_uc021vrd.1_Missense_Mutation_p.C2633Y	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	2633					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GTCGGGCAGGCATGTCCACTG	0.537000												
TNPO2	30000	broad.mit.edu	37	19	12812201	12812201	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:12812201G>A	uc002mup.3	-	22	3361	c.2899C>T	c.(2899-2901)Ccg>Tcg	p.P967S	TNPO2_uc002muq.3_Missense_Mutation_p.P875S|TNPO2_uc002muo.3_Missense_Mutation_p.P885S|TNPO2_uc002mur.3_Missense_Mutation_p.P875S	NM_013433	NP_038461	O14787	TNPO2_HUMAN	Homo sapiens transportin 2 (TNPO2), transcript variant 2, mRNA.	885					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TTGAGCAGCGGCGGGAATTGC	0.577000												
CYGB	114757	broad.mit.edu	37	17	74527194	74527194	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:74527194C>T	uc002jru.1	-	2	564	c.406G>A	c.(406-408)Gcc>Acc	p.A136T	PRCD_uc002jrw.1_Intron	NM_134268	NP_599030	Q8WWM9	CYGB_HUMAN	Homo sapiens cytoglobin (CYGB), mRNA.	136	Globin.				response to oxidative stress	cytoplasm	heme binding|oxygen binding|oxygen transporter activity|peroxidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)	7						AATTCCTCGGCGACCACCTCC	0.647000												
TUBA8	51807	broad.mit.edu	37	22	18604435	18604435	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:18604435G>A	uc002znw.1	+	0	562	c.265G>A	c.(265-267)Gcc>Acc	p.A89T	TUBA8_uc002znv.2_Missense_Mutation_p.A65T|TUBA8_uc021wkt.1_5'UTR	NM_001193414	NP_001180343	Q9NY65	TBA8_HUMAN	Homo sapiens tubulin, alpha 8 (TUBA8), transcript variant 2, mRNA.	65					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						TGTGCCCCGGGCCGTCATGAT	0.547000												
TICAM1	148022	broad.mit.edu	37	19	4818028	4818028	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:4818028G>A	uc002mbi.3	-	1	613	c.362C>T	c.(361-363)gCc>gTc	p.A121V	TICAM1_uc021unj.1_Missense_Mutation_p.A121V	NM_182919	NP_891549	Q8IUC6	TCAM1_HUMAN	Homo sapiens toll-like receptor adaptor molecule 1 (TICAM1), mRNA.	121					I-kappaB kinase/NF-kappaB cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|apoptosis|inflammatory response|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GGTGCGGACGGCTTCCTGGTA	0.677000												
RAP1GAP	5909	broad.mit.edu	37	1	21926080	21926080	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:21926080C>T	uc001bev.3	-	18	1956	c.1938G>A	c.(1936-1938)gcG>gcA	p.A646A	RAP1GAP_uc001bew.3_Silent_p.A625A|RAP1GAP_uc001bey.3_Silent_p.A587A|RAP1GAP_uc001bex.3_Silent_p.A561A	NM_001145657	NP_001139129	P47736	RPGP1_HUMAN	Homo sapiens RAP1 GTPase activating protein (RAP1GAP), transcript variant 2, mRNA.	561					regulation of Ras GTPase activity|signal transduction	Golgi membrane|cytosol|membrane fraction	GTPase activator activity|GTPase activity|Ras GTPase binding|protein homodimerization activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		AGTCCTTGAGCGCCTCTGCTC	0.672000												
AEBP1	165	broad.mit.edu	37	7	44147270	44147270	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:44147270A>G	uc003tkb.3	+	3	1015	c.710A>G	c.(709-711)gAc>gGc	p.D237G		NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN	Homo sapiens AE binding protein 1 (AEBP1), mRNA.	237	Pro-rich.				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						GACTACAATGACCAGATCGAG	0.637000												
RNF216	54476	broad.mit.edu	37	7	5792588	5792588	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:5792588C>T	uc003sox.2	-	2	349	c.90G>A	c.(88-90)ggG>ggA	p.G30G	RNF216_uc010ksz.2_5'UTR|RNF216_uc010kta.2_5'UTR|RNF216_uc003soy.2_Silent_p.G30G|RNF216_uc011jwj.2_Intron	NM_207111	NP_996994	Q9NWF9	RN216_HUMAN	Homo sapiens ring finger protein 216 (RNF216), transcript variant 1, mRNA.	30					apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		TGGTGATGGGCCCATCTCGGA	0.493000												
RNF217	154214	broad.mit.edu	37	6	125379190	125379190	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:125379190C>T	uc003pzr.3	+	2	1048	c.514C>T	c.(514-516)Cgt>Tgt	p.R172C	RNF217_uc003pzs.3_Missense_Mutation_p.R115C|RNF217_uc003pzt.3_Non-coding_Transcript			Q8TC41	RN217_HUMAN	Homo sapiens ring finger protein 217 (RNF217), mRNA.	115					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0162)		CAAATTGTTGCGTCACTGGGC	0.463000												
KIAA0586	9786	broad.mit.edu	37	14	58934588	58934588	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:58934588C>T	uc010trr.2	+	17	2793	c.2549C>T	c.(2548-2550)gCc>gTc	p.A850V	KIAA0586_uc001xdu.4_Missense_Mutation_p.A782V|KIAA0586_uc010trs.2_Missense_Mutation_p.A712V|KIAA0586_uc001xdt.4_Missense_Mutation_p.A753V|KIAA0586_uc001xdv.4_Missense_Mutation_p.A721V|KIAA0586_uc010trt.2_Missense_Mutation_p.A657V|KIAA0586_uc010tru.1_Missense_Mutation_p.A657V	NM_001244189	NP_001231118	E9PGW8	E9PGW8_HUMAN	Homo sapiens KIAA0586 (KIAA0586), transcript variant 1, mRNA.	721										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCTAACATAGCCATTGTAGAA	0.398000												
ITGBL1	9358	broad.mit.edu	37	13	102359114	102359114	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:102359114A>G	uc001vpb.3	+	8	1360	c.1141A>G	c.(1141-1143)Aca>Gca	p.T381A	ITGBL1_uc010agb.3_Missense_Mutation_p.T332A|ITGBL1_uc001vpc.4_Missense_Mutation_p.T240A	NM_004791	NP_004782	O95965	ITGBL_HUMAN	Homo sapiens integrin, beta-like 1 (with EGF-like repeat domains) (ITGBL1), mRNA.	381	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGGCCACGGCACATGTTCCTG	0.463000												
NCOR1	9611	broad.mit.edu	37	17	15961846	15961846	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:15961846C>T	uc002gpo.3	-	37	6218	c.5949G>A	c.(5947-5949)gcG>gcA	p.A1983A	NCOR1_uc002gpn.3_Silent_p.A1880A|NCOR1_uc002gpl.3_5'Flank|NCOR1_uc002gpm.3_Silent_p.A503A|NCOR1_uc010vwb.2_Silent_p.A567A|NCOR1_uc010coy.3_Silent_p.A891A|NCOR1_uc010vwc.2_Silent_p.A793A	NM_006311	NP_006302	O75376	NCOR1_HUMAN	Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA.	1983	Interaction with C1D (By similarity).				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)		CCTGGGGTGGCGCAGGTGAGC	0.403000												
CELF3	11189	broad.mit.edu	37	1	151680282	151680282	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:151680282C>T	uc001eys.2	-	5	1410	c.616G>A	c.(616-618)Gcc>Acc	p.A206T	CELF3_uc010pdh.2_Missense_Mutation_p.A14T|CELF3_uc021oyt.1_Missense_Mutation_p.A159T|CELF3_uc009wmy.3_Missense_Mutation_p.A206T|CELF3_uc001eyr.3_Missense_Mutation_p.A205T|CELF3_uc009wmx.2_Missense_Mutation_p.A206T|CELF3_uc001eyt.2_Missense_Mutation_p.A129T|RIIAD1_uc001eyu.2_5'Flank	NM_007185	NP_009116	Q5SZQ8	CELF3_HUMAN	Homo sapiens CUGBP, Elav-like family member 3 (CELF3), transcript variant 1, mRNA.	206					nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	mRNA binding|nucleotide binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						TGGGTGTAGGCGCTGTAGGCT	0.677000												
ZNF439	90594	broad.mit.edu	37	19	11978739	11978739	+	Silent	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:11978739T>C	uc002mss.3	+	2	983	c.855T>C	c.(853-855)tgT>tgC	p.C285C	ZNF439_uc002msr.3_Silent_p.C149C	NM_152262	NP_689475	Q8NDP4	ZN439_HUMAN	Homo sapiens zinc finger protein 439 (ZNF439), mRNA.	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						CCAGATCCTGTCACAGACATG	0.423000												
CCNE1	898	broad.mit.edu	37	19	30313366	30313366	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:30313366C>T	uc002nsn.3	+	10	1149	c.966C>T	c.(964-966)tgC>tgT	p.C322C	CCNE1_uc002nso.3_Silent_p.C307C	NM_001238	NP_001229	P24864	CCNE1_HUMAN	Homo sapiens cyclin E1 (CCNE1), mRNA.	322					androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	androgen receptor binding|protein kinase binding|transcription coactivator activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1)	20	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)			ATCAGTGGTGCGACATAGAGA	0.498000			A		serous ovarian							
FSTL5	56884	broad.mit.edu	37	4	163032431	163032431	+	Nonsense_Mutation	SNP	G	G	A	rs141917472	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:163032431G>A	uc003iqh.3	-	1	554	c.118C>T	c.(118-120)Cga>Tga	p.R40*	FSTL5_uc003iqi.3_Nonsense_Mutation_p.R40*|FSTL5_uc010iqv.3_Nonsense_Mutation_p.R40*	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.	40						extracellular region	calcium ion binding	p.R40*(2)|p.R40Q(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		ACCTTATGTCGCAATCTCATT	0.393000												
GABARAPL1	23710	broad.mit.edu	37	12	10370695	10370695	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:10370695C>T	uc001qxs.3	+	1	364	c.124C>T	c.(124-126)Cct>Tct	p.P42S	GABARAPL1_uc010shb.1_Missense_Mutation_p.P42S|GABARAPL1_uc001qxt.3_Non-coding_Transcript	NM_031412	NP_113600	Q9H0R8	GBRL1_HUMAN	Homo sapiens GABA(A) receptor-associated protein like 1 (GABARAPL1), mRNA.	42	Interaction with GABRG2 (By similarity).					Golgi apparatus|autophagic vacuole|endoplasmic reticulum|membrane|microtubule	GABA receptor binding|beta-tubulin binding			NS(1)|lung(1)	2						AGCCAGGGTGCCTGATCTGGA	0.473000												
PPARGC1B	133522	broad.mit.edu	37	5	149206304	149206304	+	Silent	SNP	C	C	T	rs141027780	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:149206304C>T	uc003lrc.3	+	2	412	c.321C>T	c.(319-321)gaC>gaT	p.D107D	PPARGC1B_uc003lrb.2_Silent_p.D107D|PPARGC1B_uc003lrd.3_Silent_p.D107D|PPARGC1B_uc021yfr.1_Silent_p.D82D|PPARGC1B_uc003lre.1_Silent_p.D86D|PPARGC1B_uc003lrf.3_Silent_p.D86D	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 beta (PPARGC1B), transcript variant 1, mRNA.	107					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|RNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CTGAAGATGACGTGGGTCTGG	0.627000												
IGSF3	3321	broad.mit.edu	37	1	117156666	117156666	+	Silent	SNP	G	G	T	rs144111921		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:117156666G>T	uc001egq.1	-	3	1258	c.553C>A	c.(553-555)Cgg>Agg	p.R185R	IGSF3_uc001egr.1_Silent_p.R185R	NM_001542	NP_001533	O75054	IGSF3_HUMAN	Homo sapiens immunoglobulin superfamily, member 3 (IGSF3), transcript variant 1, mRNA.	185	Ig-like C2-type 2.					integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		ACTTTCTGCCGGAGCCAGGCC	0.612000												
EIF2B4	8890	broad.mit.edu	37	2	27590383	27590383	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:27590383C>T	uc002rjz.3	-	7	925	c.886G>A	c.(886-888)Gcc>Acc	p.A296T	EIF2B4_uc002rka.3_Missense_Mutation_p.A261T|EIF2B4_uc002rkb.3_Missense_Mutation_p.A276T|EIF2B4_uc002rkc.3_Missense_Mutation_p.A275T|EIF2B4_uc002rke.3_Missense_Mutation_p.A245T|EIF2B4_uc002rkf.1_3'UTR|SNX17_uc010ylj.1_5'Flank	NM_172195	NP_751945	Q9UI10	EI2BD_HUMAN	Homo sapiens eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa (EIF2B4), transcript variant 1, mRNA.	276					myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	translation initiation factor activity|translation initiation factor binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(5)|skin(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AACTTGATGGCGTTGTGCATG	0.483000												
OSBPL6	114880	broad.mit.edu	37	2	179214085	179214085	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:179214085G>A	uc002uly.3	+	12	1741	c.1197G>A	c.(1195-1197)ctG>ctA	p.L399L	OSBPL6_uc002ulw.3_Silent_p.L343L|OSBPL6_uc002ulx.3_Silent_p.L374L|OSBPL6_uc010zfe.2_Silent_p.L343L|OSBPL6_uc002ulz.3_Silent_p.L374L|OSBPL6_uc002uma.3_Silent_p.L378L	NM_001201480	NP_001188409	Q9BZF3	OSBL6_HUMAN	Homo sapiens oxysterol binding protein-like 6 (OSBPL6), transcript variant 3, mRNA.	374					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			ATACAAAGCTGCAAGAAGAAT	0.398000												
GIGYF2	26058	broad.mit.edu	37	2	233655446	233655446	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:233655446C>T	uc002vtj.4	+	11	1084	c.817C>T	c.(817-819)Cga>Tga	p.R273*	GIGYF2_uc010zmj.1_Nonsense_Mutation_p.R251*|GIGYF2_uc002vtg.2_Nonsense_Mutation_p.R245*|GIGYF2_uc002vti.4_Nonsense_Mutation_p.R251*|GIGYF2_uc002vtk.4_Nonsense_Mutation_p.R251*|GIGYF2_uc002vth.4_Nonsense_Mutation_p.R245*|GIGYF2_uc010zmk.2_Non-coding_Transcript|GIGYF2_uc010zml.1_Nonsense_Mutation_p.R82*	NM_001103147	NP_001096617	Q6Y7W6	PERQ2_HUMAN	Homo sapiens GRB10 interacting GYF protein 2 (GIGYF2), transcript variant 1, mRNA.	251					cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		ACACATGGAACGACGTCGGAG	0.468000												
RNF150	57484	broad.mit.edu	37	4	141888992	141888992	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:141888992G>A	uc003iio.1	-	1	1174	c.520C>T	c.(520-522)Cca>Tca	p.P174S	RNF150_uc010iok.1_Missense_Mutation_p.P174S|RNF150_uc003iip.1_Missense_Mutation_p.P174S	NM_020724	NP_065775	Q9ULK6	RN150_HUMAN	Homo sapiens ring finger protein 150 (RNF150), mRNA.	174	PA.					integral to membrane	zinc ion binding			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					TTCCCTTTTGGCTCAGGAATC	0.488000												
RXRA	6256	broad.mit.edu	37	9	137300846	137300846	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:137300846G>A	uc004cfb.2	+	3	653	c.491G>A	c.(490-492)cGc>cAc	p.R164H	RXRA_uc004cfc.1_Missense_Mutation_p.R67H	NM_002957	NP_002948	P19793	RXRA_HUMAN	Homo sapiens retinoid X receptor, alpha (RXRA), mRNA.	164					cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding	p.V163V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	CGGACGGTGCGCAAGGACCTG	0.642000												
MMP28	79148	broad.mit.edu	37	17	34106032	34106032	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:34106032C>T	uc002hjy.1	-	2	498	c.239G>A	c.(238-240)cGc>cAc	p.R80H	MMP28_uc002hjw.1_Non-coding_Transcript|MMP28_uc002hjz.1_Non-coding_Transcript|MMP28_uc002hka.3_Missense_Mutation_p.R80H	NM_024302	NP_077278	Q9H239	MMP28_HUMAN	Homo sapiens matrix metallopeptidase 28 (MMP28), transcript variant 1, mRNA.	80					proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.D79V(1)		endometrium(1)|kidney(2)|lung(7)|ovary(1)|skin(5)	16		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CAGGGTGGCGCGGTCCAACAC	0.607000												
MCM2	4171	broad.mit.edu	37	3	127340010	127340010	+	Missense_Mutation	SNP	G	G	A	rs137990158		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:127340010G>A	uc003ejp.3	+	14	2600	c.2543G>A	c.(2542-2544)cGc>cAc	p.R848H	MCM2_uc011bkm.2_Missense_Mutation_p.R718H|MCM2_uc010hsl.3_Non-coding_Transcript|MCM2_uc011bkn.2_Missense_Mutation_p.R801H	NM_004526	NP_004517	P49736	MCM2_HUMAN	Homo sapiens minichromosome maintenance complex component 2 (MCM2), mRNA.	848					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex|chromatin	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						ACATATCAGCGCAACCGCTTT	0.547000												
RBP3	5949	broad.mit.edu	37	10	48389508	48389508	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:48389508G>A	uc001jez.3	-	0	1484	c.1370C>T	c.(1369-1371)gCc>gTc	p.A457V		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	457	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)	GACATATGGGGCCAACACACC	0.627000												
PCDH10	57575	broad.mit.edu	37	4	134073044	134073044	+	Silent	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:134073044G>T	uc003iha.3	+	0	2575	c.1749G>T	c.(1747-1749)ggG>ggT	p.G583G	BC040219_uc003igy.3_5'Flank|PCDH10_uc003igz.3_Silent_p.G583G	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	Homo sapiens protocadherin 10 (PCDH10), transcript variant 1, mRNA.	583	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GGCGCAACGGGACTCCAGCGC	0.687000												
FAM73A	374986	broad.mit.edu	37	1	78272690	78272690	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:78272690G>A	uc010ork.2	+	4	573	c.541G>A	c.(541-543)Gct>Act	p.A181T	FAM73A_uc001dhx.3_Missense_Mutation_p.A181T|FAM73A_uc010orl.2_Missense_Mutation_p.A143T|FAM73A_uc001dhy.1_5'UTR	NM_198549	NP_940951	Q8NAN2	FA73A_HUMAN	Homo sapiens family with sequence similarity 73, member A (FAM73A), mRNA.	181						integral to membrane				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		TCATAGCTGCGCTTGTGGCAA	0.348000												
PLEKHA2	59339	broad.mit.edu	37	8	38810831	38810831	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:38810831G>A	uc003xmi.4	+	8	953	c.719G>A	c.(718-720)cGc>cAc	p.R240H	PLEKHA2_uc011lce.2_Missense_Mutation_p.R190H	NM_021623	NP_067636	Q9HB19	PKHA2_HUMAN	Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2 (PLEKHA2), mRNA.	240	PH 2.				positive regulation of cell-matrix adhesion	cytoplasm|nucleus|plasma membrane|protein complex	fibronectin binding|laminin binding	p.R240H(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13		all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;4.68e-08)|COAD - Colon adenocarcinoma(9;0.235)			GAACCACTGCGCACCATATTT	0.463000												
OR6N1	128372	broad.mit.edu	37	1	158735692	158735692	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:158735692G>A	uc010piq.2	-	0	781	c.781C>T	c.(781-783)Cag>Tag	p.Q261*		NM_001005185	NP_001005185	Q8NGY5	OR6N1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily N, member 1 (OR6N1), mRNA.	261			Q -> R (in dbSNP:rs857825).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					TTCTTCAGCTGCACATACATG	0.537000												
PHF20L1	51105	broad.mit.edu	37	8	133848857	133848857	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:133848857A>G	uc003ytt.3	+	15	2307	c.1982A>G	c.(1981-1983)cAg>cGg	p.Q661R	PHF20L1_uc011lja.2_Missense_Mutation_p.Q635R	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	Homo sapiens PHD finger protein 20-like 1 (PHF20L1), transcript variant 1, mRNA.	661							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GAATACAATCAGGACTTTGAT	0.373000												
ITPR3	3710	broad.mit.edu	37	6	33661334	33661334	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:33661334A>G	uc021ywr.1	+	55	7861	c.7637A>G	c.(7636-7638)gAc>gGc	p.D2546G		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA.	2546					G-protein coupled receptor protein signaling pathway|activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						CTGGAGAGGGACAAGTTTGAT	0.537000												
SMPD1	6609	broad.mit.edu	37	11	6413036	6413036	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:6413036C>T	uc001mcw.3	+	1	926	c.741C>T	c.(739-741)ggC>ggT	p.G247G	SMPD1_uc021qcz.1_Silent_p.G247G|SMPD1_uc001mcv.2_Intron|SMPD1_uc009yew.3_Silent_p.G246G|SMPD1_uc021qda.1_Non-coding_Transcript|SMPD1_uc009yex.3_Non-coding_Transcript	NM_000543	NP_000534	P17405	ASM_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 1, acid lysosomal (SMPD1), transcript variant 1, mRNA.	245					cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction	lysosome	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Desipramine(DB01151)	GATACTGGGGCGAATACAGCA	0.652000												
HUWE1	10075	broad.mit.edu	37	X	53569478	53569478	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:53569478G>A	uc004dsp.3	-	73	11804	c.11402C>T	c.(11401-11403)gCg>gTg	p.A3801V	HUWE1_uc004dsn.3_Missense_Mutation_p.A2609V|HUWE1_uc004dsq.1_Missense_Mutation_p.A101V	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	3801					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CCGGACAGACGCCTCTGACTG	0.517000												
FER1L5	90342	broad.mit.edu	37	2	97364841	97364841	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:97364841C>T	uc010fia.3	+	40	4659	c.4659C>T	c.(4657-4659)taC>taT	p.Y1553Y	FER1L5_uc002sws.4_Silent_p.Y271Y|FER1L5_uc010fib.1_Non-coding_Transcript|FER1L5_uc010yus.2_Silent_p.Y270Y	NM_001113382	NP_001106853	A0AVI2	FR1L5_HUMAN	Homo sapiens fer-1-like 5 (C. elegans) (FER1L5), mRNA.	1553	C2 5.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						GGGACATGTACCAGCCCAACA	0.567000												
DNAJC13	23317	broad.mit.edu	37	3	132207227	132207227	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:132207227G>A	uc003eor.3	+	29	3418	c.3353G>A	c.(3352-3354)cGc>cAc	p.R1118H		NM_015268	NP_056083	O75165	DJC13_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 13 (DNAJC13), mRNA.	1118							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						CAGTTACCCCGCCTTTATCTG	0.373000												
TXNDC16	57544	broad.mit.edu	37	14	52981604	52981604	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:52981604C>T	uc001wzs.3	-	7	1048	c.599G>A	c.(598-600)aGt>aAt	p.S200N	TXNDC16_uc010tqu.2_Missense_Mutation_p.S195N|TXNDC16_uc010aoe.3_Non-coding_Transcript	NM_020784	NP_065835	Q9P2K2	TXD16_HUMAN	Homo sapiens thioredoxin domain containing 16 (TXNDC16), transcript variant 1, mRNA.	200					cell redox homeostasis	extracellular region				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					ATACCCAATACTTTCCAAAAG	0.358000												
ALX3	257	broad.mit.edu	37	1	110603359	110603359	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:110603359G>A	uc001dzb.3	-	3	1116	c.1028C>T	c.(1027-1029)aCg>aTg	p.T343M	DQ574855_uc021orl.1_Non-coding_Transcript	NM_006492	NP_006483	O95076	ALX3_HUMAN	Homo sapiens ALX homeobox 3 (ALX3), mRNA.	343						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.T343T(1)		large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135)		AACCGATCACGTGGTCCAGTT	0.577000												
CLEC12B	387837	broad.mit.edu	37	12	10167889	10167889	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:10167889T>C	uc001qwz.2	+	3	576	c.448T>C	c.(448-450)Tac>Cac	p.Y150H	CLEC12B_uc001qwx.2_Missense_Mutation_p.Y150H|CLEC12B_uc001qwy.2_Missense_Mutation_p.Y47H|CLEC12B_uc009zhe.2_Non-coding_Transcript	NM_001129998	NP_001123470	Q2HXU8	CL12B_HUMAN	Homo sapiens C-type lectin domain family 12, member B (CLEC12B), transcript variant 1, mRNA.	150	C-type lectin.					integral to membrane|plasma membrane	receptor activity|sugar binding			central_nervous_system(2)|large_intestine(2)|lung(5)	9						GTGGCAATGGTACCAAAATAG	0.388000												
BDKRB2	624	broad.mit.edu	37	14	96707401	96707401	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:96707401C>T	uc010avm.1	+	2	932	c.736C>T	c.(736-738)Cag>Tag	p.Q246*	BDKRB2_uc010avl.2_3'UTR|BDKRB2_uc010twu.1_Nonsense_Mutation_p.Q219*|BDKRB2_uc001yfg.2_Nonsense_Mutation_p.Q246*	NM_000623	NP_000614	P30411	BKRB2_HUMAN	Homo sapiens bradykinin receptor B2 (BDKRB2), mRNA.	246					arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		CTGCACGATGCAGATCATGCA	0.547000												
MTERF	7978	broad.mit.edu	37	7	91503707	91503707	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:91503707C>T	uc003ulc.1	-	2	477	c.401G>A	c.(400-402)cGt>cAt	p.R134H	MTERF_uc010let.1_Intron|MTERF_uc011khm.1_Missense_Mutation_p.R114H|MTERF_uc010leu.1_Missense_Mutation_p.R114H	NM_006980	NP_008911	Q99551	MTERF_HUMAN	Homo sapiens mitochondrial transcription termination factor (MTERF), nuclear gene encoding mitochondrial protein, mRNA.	134					DNA geometric change|regulation of transcription, DNA-dependent|termination of mitochondrial transcription	mitochondrial nucleoid	double-stranded DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|skin(1)	14	all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176)			CTCGGGAGTACGTGTTATTGC	0.408000												
MS4A4A	51338	broad.mit.edu	37	11	60070111	60070111	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:60070111C>T	uc001noz.3	+	4	602	c.467C>T	c.(466-468)gCg>gTg	p.A156V	MS4A4A_uc001npa.3_Missense_Mutation_p.A137V|MS4A4A_uc001npc.3_Intron	NM_148975	NP_076926	Q96JQ5	M4A4A_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 4 (MS4A4A), transcript variant 1, mRNA.	156						integral to membrane	receptor activity	p.A156V(1)|p.A137V(1)|p.C155F(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						TTTAGCTTGGCGTTTTATTCA	0.403000												
RGS22	26166	broad.mit.edu	37	8	101018332	101018332	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:101018332C>T	uc003yjb.1	-	15	2562	c.2367G>A	c.(2365-2367)gaG>gaA	p.E789E	RGS22_uc003yja.1_Silent_p.E608E|RGS22_uc003yjc.1_Silent_p.E777E|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc022azf.1_Silent_p.E178E	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	789					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CTTCCACCAGCTCCACCTAAA	0.373000												
PPP1R9B	84687	broad.mit.edu	37	17	48212980	48212980	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:48212980G>A	uc002iqh.4	-	9	2317	c.2314C>T	c.(2314-2316)Cgt>Tgt	p.R772C		NM_032595	NP_115984	Q96SB3	NEB2_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 9B (PPP1R9B), mRNA.	778	Interacts with TGN38 (By similarity).				RNA splicing|cell cycle arrest|cell differentiation|cell migration|filopodium assembly|negative regulation of cell growth|nervous system development|regulation of cell growth by extracellular stimulus|regulation of cell proliferation|regulation of exit from mitosis	adherens junction|cytoskeleton|dendritic spine|filopodium|lamellipodium|nucleoplasm|protein phosphatase type 1 complex|ruffle membrane|synapse	actin binding|protein phosphatase 1 binding|protein phosphatase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						AGAACCCGACGCTGTGCAGTC	0.622000												
ZBTB48	3104	broad.mit.edu	37	1	6642155	6642155	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:6642155G>A	uc009vmc.2	+	2	851	c.728G>A	c.(727-729)gGc>gAc	p.G243D	ZBTB48_uc001anx.3_Missense_Mutation_p.G243D|ZBTB48_uc009vmd.2_Missense_Mutation_p.G243D	NM_005341	NP_005332	P10074	ZBT48_HUMAN	Homo sapiens zinc finger and BTB domain containing 48 (ZBTB48), mRNA.	243						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		GATGGGGATGGCGATTACATG	0.567000												
ZNF629	23361	broad.mit.edu	37	16	30794364	30794364	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:30794364G>A	uc002dzs.1	-	2	1493	c.1285C>T	c.(1285-1287)Ccc>Tcc	p.P429S		NM_001080417	NP_001073886	Q9UEG4	ZN629_HUMAN	Homo sapiens zinc finger protein 629 (ZNF629), mRNA.	429					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			CAGATGTAGGGCCGCTCGCCG	0.632000												
PLCE1	51196	broad.mit.edu	37	10	96005833	96005833	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:96005833C>T	uc001kjk.3	+	7	3185	c.2551C>T	c.(2551-2553)Ctg>Ttg	p.L851L	PLCE1_uc010qnx.2_Silent_p.L851L|PLCE1_uc001kjm.3_Silent_p.L543L	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	851					Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TTGGTACGTGCTGTCCATCCA	0.562000												
FCGR3B	2215	broad.mit.edu	37	1	161599810	161599810	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:161599810G>A	uc009wul.3	-	2	445	c.185C>T	c.(184-186)gCt>gTt	p.A62V	FCGR3B_uc021pdo.1_Missense_Mutation_p.A26V	NM_001244753	NP_001231682	O75015	FCG3B_HUMAN	Homo sapiens Fc fragment of IgG, low affinity IIIb, receptor (CD16b) (FCGR3B), transcript variant 1, mRNA.	26	Ig-like C2-type 1.				immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	18	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GAACACCACAGCCTTTGGGAG	0.552000												
IGF1R	3480	broad.mit.edu	37	15	99486223	99486223	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:99486223C>T	uc002bul.3	+	18	3579	c.3529C>T	c.(3529-3531)Cgc>Tgc	p.R1177C	IGF1R_uc010bon.3_Missense_Mutation_p.R1176C	NM_000875	NP_000866	P08069	IGF1R_HUMAN	Homo sapiens insulin-like growth factor 1 receptor (IGF1R), mRNA.	1177	Protein kinase.				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of cell proliferation|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	GCTGCCCGTGCGCTGGATGTC	0.542000												
PACSIN2	11252	broad.mit.edu	37	22	43267373	43267373	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:43267373G>A	uc010gzg.3	-	10	1673	c.1451C>T	c.(1450-1452)gCg>gTg	p.A484V	PACSIN2_uc003bdg.4_Missense_Mutation_p.A484V|PACSIN2_uc003bdf.4_Missense_Mutation_p.A443V	NM_007229	NP_009160	Q9UNF0	PACN2_HUMAN	Homo sapiens protein kinase C and casein kinase substrate in neurons 2 (PACSIN2), transcript variant 2, mRNA.	484	SH3.				actin cytoskeleton organization|endocytosis	cytoplasmic membrane-bounded vesicle	transporter activity			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	19		Glioma(61;0.222)				TCACTGGATCGCCTCCACATA	0.627000												
NPC1	4864	broad.mit.edu	37	18	21140277	21140277	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:21140277C>T	uc002kum.4	-	5	1073	c.799G>A	c.(799-801)Gcc>Acc	p.A267T	NPC1_uc010xaz.2_Missense_Mutation_p.A51T|NPC1_uc010xba.1_Missense_Mutation_p.A112T	NM_000271	NP_000262	O15118	NPC1_HUMAN	Homo sapiens Niemann-Pick disease, type C1 (NPC1), mRNA.	267					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					ACATACATGGCGTCCAAGCCA	0.517000												
OR5V1	81696	broad.mit.edu	37	6	29323210	29323210	+	Missense_Mutation	SNP	C	C	T	rs141436521	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:29323210C>T	uc011dlo.2	-	0	845	c.763G>A	c.(763-765)Gcc>Acc	p.A255T		NM_030876	NP_110503	Q9UGF6	OR5V1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily V, member 1 (OR5V1), mRNA.	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GTAAAGATGGCGCTGCCATAA	0.453000												
UVRAG	7405	broad.mit.edu	37	11	75851844	75851844	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:75851844T>A	uc001oxc.3	+	14	1728	c.1487T>A	c.(1486-1488)aTc>aAc	p.I496N	UVRAG_uc010rrw.2_Missense_Mutation_p.I395N|UVRAG_uc001oxd.3_Missense_Mutation_p.I124N|UVRAG_uc010rrx.2_Missense_Mutation_p.I124N|UVRAG_uc010rry.2_Missense_Mutation_p.I52N	NM_003369	NP_003360	Q9P2Y5	UVRAG_HUMAN	Homo sapiens UV radiation resistance associated gene (UVRAG), mRNA.	496					DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						TCTGGGGGGATCCCTTCACCA	0.502000												
MUC17	140453	broad.mit.edu	37	7	100675395	100675395	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:100675395C>T	uc003uxp.1	+	2	751	c.698C>T	c.(697-699)gCt>gTt	p.A233V	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	233	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGTTCAGAGGCTATCACCCTT	0.488000												
CABP7	164633	broad.mit.edu	37	22	30125542	30125542	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:30125542G>A	uc003agl.3	+	4	702	c.632G>A	c.(631-633)cGc>cAc	p.R211H		NM_182527	NP_872333	Q86V35	CABP7_HUMAN	Homo sapiens calcium binding protein 7 (CABP7), mRNA.	211						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			lung(1)|skin(3)	4			OV - Ovarian serous cystadenocarcinoma(5;0.00442)|Epithelial(10;0.215)|all cancers(5;0.233)			CAGGTGCTGCGCAGTGGCATG	0.647000												
HFE	3077	broad.mit.edu	37	6	26093362	26093362	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:26093362G>A	uc003nfx.1	+	4	1068	c.908G>A	c.(907-909)gGc>gAc	p.G303D	HFE_uc003nfy.1_Missense_Mutation_p.G280D|HFE_uc010jqe.1_Missense_Mutation_p.G300D|HFE_uc003nfz.1_Missense_Mutation_p.G215D|HFE_uc003ngd.1_Missense_Mutation_p.G201D|HFE_uc003nga.1_Missense_Mutation_p.G289D|HFE_uc003ngb.1_Missense_Mutation_p.G197D|HFE_uc003ngc.1_Missense_Mutation_p.G211D|HFE_uc003nge.1_Missense_Mutation_p.G123D|HFE_uc003ngf.1_Missense_Mutation_p.G31D	NM_000410	NP_000401	Q30201	HFE_HUMAN	Homo sapiens hemochromatosis (HFE), transcript variant 1, mRNA.	303	Connecting peptide.				antigen processing and presentation of peptide antigen via MHC class I|cellular iron ion homeostasis|immune response|iron ion transport|protein complex assembly|receptor-mediated endocytosis	MHC class I protein complex|apical part of cell|basal part of cell|cytoplasmic vesicle|early endosome|integral to plasma membrane|perinuclear region of cytoplasm|recycling endosome	protein binding			endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCACCGTCTGGCACCCTAGTC	0.448000									Hemochromatosis			
DOPEY1	23033	broad.mit.edu	37	6	83845508	83845508	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:83845508T>C	uc011dyy.2	+	19	3274	c.3014T>C	c.(3013-3015)gTa>gCa	p.V1005A	DOPEY1_uc003pjs.1_Missense_Mutation_p.V1014A|DOPEY1_uc010kbl.1_Missense_Mutation_p.V1005A|DOPEY1_uc003pjt.3_5'Flank	NM_001199942	NP_001186871	Q5JWR5	DOP1_HUMAN	Homo sapiens dopey family member 1 (DOPEY1), transcript variant 2, mRNA.	1014					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GTACAGCGTGTACAAGCAGAA	0.428000												
MPZ	4359	broad.mit.edu	37	1	161277190	161277190	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:161277190A>G	uc001gaf.4	-	1	159	c.92T>C	c.(91-93)gTg>gCg	p.V31A		NM_000530	NP_000521	P25189	MYP0_HUMAN	Homo sapiens myelin protein zero (MPZ), mRNA.	31	Ig-like V-type.				synaptic transmission	integral to plasma membrane	structural molecule activity			central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	10	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)	Breast(1374;0.181)	BRCA - Breast invasive adenocarcinoma(70;0.00376)			GGTGTAAACCACGATGGCCTG	0.577000												
MRPS14	63931	broad.mit.edu	37	1	174987651	174987651	+	Missense_Mutation	SNP	C	C	T	rs147012061		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:174987651C>T	uc001gkk.3	-	1	154	c.107G>A	c.(106-108)cGc>cAc	p.R36H	MRPS14_uc009wwr.3_Missense_Mutation_p.R21H	NM_022100	NP_071383	O60783	RT14_HUMAN	Homo sapiens mitochondrial ribosomal protein S14 (MRPS14), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	36					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome	p.R36S(1)		large_intestine(2)|lung(5)|pancreas(1)|prostate(2)	10						CTTCACATCGCGCCACATTCT	0.438000												
GTF3C5	9328	broad.mit.edu	37	9	135931464	135931464	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:135931464C>T	uc004ccj.4	+	9	1591	c.1254C>T	c.(1252-1254)tgC>tgT	p.C418C	GTF3C5_uc004cci.4_Silent_p.C411C	NM_001122823	NP_001116295	Q9Y5Q8	TF3C5_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 5, 63kDa (GTF3C5), transcript variant 1, mRNA.	411						transcription factor TFIIIC complex	DNA binding|protein binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		ACCAGTTATGCGACTTGAATG	0.572000												
CNTN1	1272	broad.mit.edu	37	12	41410609	41410609	+	Silent	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:41410609A>G	uc001rmm.1	+	18	2423	c.2310A>G	c.(2308-2310)aaA>aaG	p.K770K	CNTN1_uc001rmn.1_Silent_p.K759K	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	Homo sapiens contactin 1 (CNTN1), transcript variant 1, mRNA.	770	Fibronectin type-III 2.				Notch signaling pathway|axon guidance|cell adhesion	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)				ATGTCCATAAAGATGAAACCA	0.398000												
SERPINA12	145264	broad.mit.edu	37	14	94964324	94964324	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:94964324C>T	uc001ydj.3	-	2	1207	c.411G>A	c.(409-411)acG>acA	p.T137T		NM_173850	NP_776249	Q8IW75	SPA12_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12 (SERPINA12), mRNA.	137					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		CAATGAACAGCGTGTTCCCAA	0.468000												
BRD2	6046	broad.mit.edu	37	6	32944496	32944496	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:32944496G>A	uc010juh.3	+	5	2287	c.983G>A	c.(982-984)cGc>cAc	p.R328H	BRD2_uc003ocn.4_Missense_Mutation_p.R328H|BRD2_uc003oco.3_Non-coding_Transcript|BRD2_uc003ocp.4_Missense_Mutation_p.R208H|BRD2_uc003ocq.4_Missense_Mutation_p.R328H|BRD2_uc021ywf.1_Missense_Mutation_p.R281H	NM_001199455	NP_001186384	P25440	BRD2_HUMAN	Homo sapiens bromodomain containing 2 (BRD2), transcript variant 3, mRNA.	328					spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						AAGCCCCCACGCAAAGACTTG	0.522000												
CDT1	81620	broad.mit.edu	37	16	88872194	88872194	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:88872194G>A	uc002flu.3	+	4	803	c.749G>A	c.(748-750)cGc>cAc	p.R250H		NM_030928	NP_112190	Q9H211	CDT1_HUMAN	Homo sapiens chromatin licensing and DNA replication factor 1 (CDT1), mRNA.	250					DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(80;0.0476)		TACCGCTTCCGCCAGGAGCGC	0.632000												
UGT2B15	7366	broad.mit.edu	37	4	69512908	69512908	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:69512908C>T	uc021xow.1	-	5	1665	c.1507G>A	c.(1507-1509)Gca>Aca	p.A503T		NM_001076	NP_001067	P54855	UDB15_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B15 (UGT2B15), mRNA.	503					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										ATCACAGTTGCCACGCAGGCC	0.448000												
SORCS3	22986	broad.mit.edu	37	10	106960891	106960891	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:106960891T>C	uc001kyi.1	+	15	2368	c.2141T>C	c.(2140-2142)gTc>gCc	p.V714A	SORCS3_uc010qqz.1_Non-coding_Transcript	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	714						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)		GAGCCTTGTGTCATGGGAGAA	0.458000												
CYP4F12	66002	broad.mit.edu	37	19	15807839	15807839	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:15807839C>T	uc002nbl.3	+	12	1638	c.1519C>T	c.(1519-1521)Cgc>Tgc	p.R507C		NM_023944	NP_076433			Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA.											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					ATTGATCATGCGCGCCGAGGG	0.567000												
NGF	4803	broad.mit.edu	37	1	115828756	115828756	+	Missense_Mutation	SNP	G	G	A	rs11466112		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:115828756G>A	uc021osd.1	-	0	661	c.661C>T	c.(661-663)Cgg>Tgg	p.R221W	NGF_uc001efu.1_Missense_Mutation_p.R221W	NM_002506	NP_002497	P01138	NGF_HUMAN	Homo sapiens nerve growth factor (beta polypeptide) (NGF), mRNA.	221			R -> W (in HSAN5; dbSNP:rs11466112).		Ras protein signal transduction|activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	Golgi lumen|endosome	growth factor activity|nerve growth factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	CGGATAAACCGCCAGGCAGCC	0.587000												
ZNF787	126208	broad.mit.edu	37	19	56600116	56600116	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:56600116C>T	uc010eth.1	-	2	544	c.425G>A	c.(424-426)cGc>cAc	p.R142H		NM_001002836	NP_001002836	Q6DD87	ZN787_HUMAN	Homo sapiens zinc finger protein 787 (ZNF787), mRNA.	142					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0559)		CGTGTGGATGCGCTGGTGCTG	0.677000												
C11orf24	53838	broad.mit.edu	37	11	68029864	68029864	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:68029864G>A	uc001onr.4	-	3	1041	c.599C>T	c.(598-600)gCg>gTg	p.A200V		NM_022338	NP_071733	Q96F05	CK024_HUMAN	Homo sapiens chromosome 11 open reading frame 24 (C11orf24), mRNA.	200						integral to membrane				endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)	13						TCTTGGCAACGCGCTGCTCTT	0.622000												
TBC1D22A	25771	broad.mit.edu	37	22	47290699	47290699	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:47290699G>A	uc003bib.3	+	6	1023	c.857G>A	c.(856-858)cGc>cAc	p.R286H	TBC1D22A_uc010haf.3_Missense_Mutation_p.R256H|TBC1D22A_uc003bie.3_Missense_Mutation_p.R208H|TBC1D22A_uc010hag.3_Non-coding_Transcript|TBC1D22A_uc003bif.3_Missense_Mutation_p.R239H	NM_014346	NP_055161	Q8WUA7	TB22A_HUMAN	Homo sapiens TBC1 domain family, member 22A (TBC1D22A), mRNA.	286	Rab-GAP TBC.					intracellular	Rab GTPase activator activity|protein homodimerization activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		GACATCCCTCGCATGAGCCCT	0.502000												
KITLG	4254	broad.mit.edu	37	12	88910187	88910187	+	Silent	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:88910187A>G	uc001tav.3	-	4	639	c.444T>C	c.(442-444)atT>atC	p.I148I	KITLG_uc009zsn.3_Intron|KITLG_uc001taw.3_Silent_p.I148I|KITLG_uc009zso.1_Intron	NM_000899	NP_000890	P21583	SCF_HUMAN	Homo sapiens KIT ligand (KITLG), transcript variant b, mRNA.	148					cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	growth factor activity|identical protein binding|stem cell factor receptor binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)	9						TGAAGGCATCAATGGATCTAT	0.358000									Testicular Cancer, Familial Clustering of			
ZDHHC17	23390	broad.mit.edu	37	12	77244672	77244672	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:77244672C>T	uc001syk.1	+	16	1969	c.1806C>T	c.(1804-1806)tgC>tgT	p.C602C		NM_015336	NP_056151	Q8IUH5	ZDH17_HUMAN	Homo sapiens zinc finger, DHHC-type containing 17 (ZDHHC17), mRNA.	602					lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding	p.R601*(1)		breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						AATTTCGATGCTGTGGCCTCT	0.408000												
PPAP2C	8612	broad.mit.edu	37	19	282274	282274	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:282274G>A	uc002loh.3	-	4	743	c.640C>T	c.(640-642)Cgg>Tgg	p.R214W	PPAP2C_uc002loi.3_Missense_Mutation_p.R193W|PPAP2C_uc002loj.3_Missense_Mutation_p.R137W	NM_177543	NP_803545	O43688	LPP2_HUMAN	Homo sapiens phosphatidic acid phosphatase type 2C (PPAP2C), transcript variant 3, mRNA.	193					sphingolipid metabolic process	integral to membrane|plasma membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|sphingosine-1-phosphate phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)|skin(1)	5		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCAGCAGCCGTGCCCACTTC	0.617000												
SERINC5	256987	broad.mit.edu	37	5	79498704	79498704	+	Splice_Site	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:79498704C>T	uc011ctj.2	-	2	352	c.195_splice	c.e2+1	p.H65_splice	SERINC5_uc003kgj.3_Splice_Site_p.H65_splice|SERINC5_uc003kgm.3_Splice_Site_p.H65_splice|SERINC5_uc003kgk.3_Splice_Site_p.H65_splice|SERINC5_uc003kgl.3_Splice_Site	NM_001174072	NP_001167543	Q86VE9	SERC5_HUMAN	Homo sapiens serine incorporator 5 (SERINC5), transcript variant 1, mRNA.	65					phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity	endoplasmic reticulum membrane|integral to membrane		p.?(2)		endometrium(3)|kidney(1)|lung(3)|ovary(1)	8		Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34)		GACAAACTTACGTGCTCTTTC	0.493000												
LIPI	149998	broad.mit.edu	37	21	15561632	15561632	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr21:15561632T>C	uc002yjm.3	-	1	228	c.218A>G	c.(217-219)aAc>aGc	p.N73S	LIPI_uc021whg.1_Non-coding_Transcript|LIPI_uc010gkw.2_Missense_Mutation_p.N52S|LIPI_uc021whh.1_Missense_Mutation_p.N52S|LIPI_uc021whi.1_Intron|LIPI_uc021whj.1_Missense_Mutation_p.N52S|LIPI_uc021whe.1_Missense_Mutation_p.N52S|LIPI_uc021whf.1_Missense_Mutation_p.N52S	NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN	Homo sapiens lipase, member I (LIPI), mRNA.	52					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		ACAGTTTAGGTTGTTCCTTGT	0.368000												
MAST4	375449	broad.mit.edu	37	5	66396393	66396393	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:66396393C>A	uc021xzk.1	+	7	1351	c.1043C>A	c.(1042-1044)cCg>cAg	p.P348Q	MAST4_uc003jus.3_Missense_Mutation_p.P159Q|MAST4_uc003jut.2_Missense_Mutation_p.P159Q|MAST4_uc003juu.1_Missense_Mutation_p.P169Q|MAST4_uc011cra.1_Missense_Mutation_p.P142Q|MAST4_uc010ixa.2_Non-coding_Transcript|MAST4_uc003juv.2_Missense_Mutation_p.P154Q|MAST4_uc003juw.3_Missense_Mutation_p.P154Q	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	351						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.P351L(1)		breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AGGAACACGCCGATGCGCCCC	0.473000												
SMC4	10051	broad.mit.edu	37	3	160138560	160138560	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:160138560C>T	uc003fdh.3	+	12	2003	c.1890C>T	c.(1888-1890)gaC>gaT	p.D630D	IFT80_uc003fda.3_Intron|SMC4_uc010hwc.1_Silent_p.D394D|SMC4_uc003fdi.3_Silent_p.D605D|SMC4_uc003fdj.3_Silent_p.D630D|SMC4_uc010hwd.3_Silent_p.D630D|SMC4_uc003fdl.3_Silent_p.D333D	NM_001002800	NP_005487	Q9NTJ3	SMC4_HUMAN	Homo sapiens structural maintenance of chromosomes 4 (SMC4), transcript variant 2, mRNA.	630	Flexible hinge.				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AAAAATACGACGTGGCTATAT	0.378000												
AMPD3	272	broad.mit.edu	37	11	10524314	10524314	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:10524314C>T	uc001min.1	+	12	2261	c.1916C>T	c.(1915-1917)gCc>gTc	p.A639V	AMPD3_uc010rbz.1_Missense_Mutation_p.A471V|AMPD3_uc009yfw.1_Non-coding_Transcript|AMPD3_uc001mio.1_Missense_Mutation_p.A630V|AMPD3_uc009yfz.2_Non-coding_Transcript|AMPD3_uc001mip.1_Missense_Mutation_p.A637V|AMPD3_uc009yfy.2_Missense_Mutation_p.A630V	NM_000480	NP_001165902	Q01432	AMPD3_HUMAN	Homo sapiens adenosine monophosphate deaminase 3 (AMPD3), transcript variant 1, mRNA.	630					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		ATCCCCATTGCCATGTCTCCT	0.478000												
HECW1	23072	broad.mit.edu	37	7	43546741	43546741	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:43546741C>T	uc003tid.1	+	21	4242	c.3637C>T	c.(3637-3639)Cag>Tag	p.Q1213*	HECW1_uc011kbi.1_Nonsense_Mutation_p.Q1179*	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	1213					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TGCAGGTTTACAGAGAGCCAG	0.478000												
OR6K6	128371	broad.mit.edu	37	1	158725344	158725344	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:158725344C>T	uc001fsw.1	+	0	739	c.739C>T	c.(739-741)Cgg>Tgg	p.R247W		NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 6 (OR6K6), mRNA.	247			R -> Q (in dbSNP:rs16841038).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					ATCCTACATCCGGATTATTAT	0.478000												
SCN8A	6334	broad.mit.edu	37	12	52082586	52082586	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:52082586G>A	uc001ryw.3	+	5	837	c.659G>A	c.(658-660)cGc>cAc	p.R220H	SCN8A_uc010snl.2_Missense_Mutation_p.R220H|SCN8A_uc001ryx.1_Missense_Mutation_p.R85H|SCN8A_uc001ryz.1_Intron|SCN8A_uc001ryy.2_Intron	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	Homo sapiens sodium channel, voltage gated, type VIII, alpha subunit (SCN8A), transcript variant 1, mRNA.	220					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	TCAGCTCTACGCACTTTCAGG	0.468000												
RBM42	79171	broad.mit.edu	37	19	36120532	36120532	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:36120532C>T	uc002oan.3	+	1	315	c.239C>T	c.(238-240)gCt>gTt	p.A80V	RBM42_uc010xsx.2_Missense_Mutation_p.A80V|RBM42_uc002oap.3_Missense_Mutation_p.A80V|RBM42_uc002oaq.3_Missense_Mutation_p.A80V	NM_024321	NP_077297	Q9BTD8	RBM42_HUMAN	Homo sapiens RNA binding motif protein 42 (RBM42), mRNA.	80						cytoplasm|nucleus	RNA binding|nucleotide binding			breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GTCCCAGCGGCTCCTGTGATC	0.582000												
ARID2	196528	broad.mit.edu	37	12	46246417	46246417	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:46246417G>A	uc001ros.1	+	14	4511	c.4511G>A	c.(4510-4512)cGg>cAg	p.R1504Q	ARID2_uc001ror.3_Missense_Mutation_p.R1504Q|ARID2_uc009zkg.1_Missense_Mutation_p.R960Q|ARID2_uc009zkh.1_Missense_Mutation_p.R1131Q|ARID2_uc001rou.1_Missense_Mutation_p.R838Q	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	1504					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)		TCTGACGTTCGGTCTACAAAT	0.443000			"""N, S, F"""		hepatocellular carcinoma							
MARCH7	64844	broad.mit.edu	37	2	160605008	160605008	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:160605008C>T	uc002uax.3	+	4	1329	c.1207C>T	c.(1207-1209)Cga>Tga	p.R403*	MARCH7_uc010foq.3_Nonsense_Mutation_p.R403*|MARCH7_uc010zcn.2_Nonsense_Mutation_p.R347*|MARCH7_uc010for.3_Nonsense_Mutation_p.R365*|MARCH7_uc002uay.3_Non-coding_Transcript	NM_022826	NP_073737	Q9H992	MARH7_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 7 (MARCH7), mRNA.	403	Ser-rich.						ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						TAGAAGGAGGCGAGAGGGAAG	0.378000												
SPAG9	9043	broad.mit.edu	37	17	49091605	49091605	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:49091605C>A	uc002itc.3	-	8	1410	c.1201G>T	c.(1201-1203)Gca>Tca	p.A401S	SPAG9_uc002itd.3_Missense_Mutation_p.A387S|SPAG9_uc002itb.3_Missense_Mutation_p.A387S|SPAG9_uc002itf.3_Missense_Mutation_p.A222S|SPAG9_uc002ita.3_Missense_Mutation_p.A244S|SPAG9_uc002ite.3_Missense_Mutation_p.A231S	NM_001130528	NP_001124000	O60271	JIP4_HUMAN	Homo sapiens sperm associated antigen 9 (SPAG9), transcript variant 1, mRNA.	401					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			AGTAAATCTGCTCCTTCATCC	0.348000												
CDKAL1	54901	broad.mit.edu	37	6	20546663	20546663	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:20546663C>T	uc003ndd.2	+	2	249	c.82C>T	c.(82-84)Cat>Tat	p.H28Y	CDKAL1_uc003nde.2_5'UTR|CDKAL1_uc021ymk.1_Missense_Mutation_p.H28Y|CDKAL1_uc010jpo.1_Missense_Mutation_p.H28Y|CDKAL1_uc003ndb.1_Missense_Mutation_p.H28Y	NM_017774	NP_060244	Q5VV42	CDKAL_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 1-like 1 (CDKAL1), mRNA.	28					RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			ACAAGATAGGCATTTTGTAAG	0.408000												
B3GNT4	79369	broad.mit.edu	37	12	122691165	122691165	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:122691165G>A	uc001ubx.3	+	2	585	c.367G>A	c.(367-369)Gcc>Acc	p.A123T	B3GNT4_uc001uby.3_Missense_Mutation_p.A98T	NM_030765	NP_110392	Q9C0J1	B3GN4_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 (B3GNT4), mRNA.	123					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222)		CTTGCTCCTGGCCATCAAGTC	0.602000												
PPP2R5E	5529	broad.mit.edu	37	14	63856359	63856359	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:63856359C>T	uc001xgd.1	-	10	1635	c.1045G>A	c.(1045-1047)Gcc>Acc	p.A349T	PPP2R5E_uc010tsf.1_Missense_Mutation_p.A273T|PPP2R5E_uc010tsg.1_Missense_Mutation_p.A273T|PPP2R5E_uc010tsh.1_Missense_Mutation_p.A349T|PPP2R5E_uc001xge.2_Missense_Mutation_p.A349T|PPP2R5E_uc001xgf.1_Non-coding_Transcript	NM_006246	NP_006237	Q16537	2A5E_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B', epsilon isoform (PPP2R5E), mRNA.	349					signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		ACACACTTGGCGATTTGTTTA	0.368000												
ZNF140	7699	broad.mit.edu	37	12	133683228	133683228	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:133683228A>C	uc001ulo.3	+	4	2035	c.1365A>C	c.(1363-1365)gaA>gaC	p.E455D	ZNF140_uc001ulp.3_Missense_Mutation_p.E352D|ZNF140_uc010tbu.2_Missense_Mutation_p.E352D	NM_003440	NP_003431	P52738	ZN140_HUMAN	Homo sapiens zinc finger protein 140 (ZNF140), mRNA.	455						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.114)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		TCCTTACTGAACACCAGTGAA	0.353000												
ATXN2	6311	broad.mit.edu	37	12	111895132	111895132	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:111895132C>T	uc001tsj.3	-	21	3564	c.3402G>A	c.(3400-3402)gcG>gcA	p.A1134A	ATXN2_uc001tsh.3_Silent_p.A869A|ATXN2_uc001tsi.3_Silent_p.A827A|ATXN2_uc001tsk.3_Non-coding_Transcript|ATXN2_uc001tsl.1_Silent_p.A135A	NM_002973	NP_002964	Q99700	ATX2_HUMAN	Homo sapiens ataxin 2 (ATXN2), mRNA.	1134					RNA metabolic process|RNA transport|cell death|cytoplasmic mRNA processing body assembly|regulation of translation|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	RNA binding|protein C-terminus 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						CGTTAGGGTGCGCATACTGCT	0.537000												
GRIK2	2898	broad.mit.edu	37	6	101847167	101847167	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:101847167T>A	uc003pqp.4	+	0	307	c.14T>A	c.(13-15)tTc>tAc	p.F5Y	GRIK2_uc021zdi.1_Non-coding_Transcript|GRIK2_uc021zdj.1_Missense_Mutation_p.F5Y|GRIK2_uc003pqn.3_Missense_Mutation_p.F5Y|GRIK2_uc010kcw.3_Missense_Mutation_p.F5Y|GRIK2_uc003pqo.4_Missense_Mutation_p.F5Y|GRIK2_uc021zdk.1_Missense_Mutation_p.F5Y|GRIK2_uc021zdl.1_Non-coding_Transcript	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 2 (GRIK2), transcript variant 1, mRNA.	5					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	AAGATTATTTTCCCGATTCTA	0.483000												
DRD5	1816	broad.mit.edu	37	4	9784507	9784507	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:9784507G>A	uc003gmb.4	+	0	1250	c.854G>A	c.(853-855)cGc>cAc	p.R285H		NM_000798	NP_000789	P21918	DRD5_HUMAN	Homo sapiens dopamine receptor D5 (DRD5), mRNA.	285					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	ACCAGCCTGCGCGCTTCCATC	0.627000												
DYNC2H1	79659	broad.mit.edu	37	11	102987424	102987424	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:102987424G>A	uc001phn.1	+	4	891	c.747G>A	c.(745-747)ttG>ttA	p.L249L	DYNC2H1_uc009yxe.1_Silent_p.L249L|DYNC2H1_uc001pho.2_Silent_p.L249L	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	249	Stem (By similarity).				Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development	Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CACGAATGTTGCATCTCTTAG	0.343000												
PIGG	54872	broad.mit.edu	37	4	517475	517475	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:517475G>A	uc003gak.4	+	8	1978	c.1842G>A	c.(1840-1842)ggG>ggA	p.G614G	PIGG_uc003gaj.4_Silent_p.G606G|PIGG_uc011bux.2_Non-coding_Transcript|PIGG_uc010ibf.3_Silent_p.G481G|PIGG_uc003gal.4_Silent_p.G525G	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class G (PIGG), transcript variant 1, mRNA.	614					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						TGGAACAAGGGCATGACGGGG	0.587000												
MYLK	4638	broad.mit.edu	37	3	123471267	123471267	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:123471267G>A	uc003ego.3	-	4	566	c.284C>T	c.(283-285)gCt>gTt	p.A95V	MYLK_uc011bjw.2_Missense_Mutation_p.A95V|MYLK_uc003egp.3_Missense_Mutation_p.A95V|MYLK_uc003egq.3_Missense_Mutation_p.A95V|MYLK_uc003egr.3_Missense_Mutation_p.A95V|MYLK_uc003egs.3_Intron|MYLK_uc010hrs.1_Missense_Mutation_p.A95V|MYLK_uc003egu.1_Missense_Mutation_p.A105V	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	95	Ig-like C2-type 1.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	p.A95D(2)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CTCATGGACAGCATGAATCAC	0.587000												
NT5E	4907	broad.mit.edu	37	6	86199295	86199295	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:86199295G>A	uc003pko.4	+	5	1744	c.1188G>A	c.(1186-1188)tcG>tcA	p.S396S	NT5E_uc010kbr.3_Silent_p.S396S	NM_002526	NP_002517	P21589	5NTD_HUMAN	Homo sapiens 5'-nucleotidase, ecto (CD73) (NT5E), transcript variant 1, mRNA.	396					DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Pentoxifylline(DB00806)	GTATCCGGTCGCCCATTGATG	0.473000												
PSIP1	11168	broad.mit.edu	37	9	15472661	15472661	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:15472661G>A	uc003zlv.4	-	9	1276	c.946C>T	c.(946-948)Cgc>Tgc	p.R316C	PSIP1_uc003zlw.4_Missense_Mutation_p.R316C|PSIP1_uc003zlz.4_Missense_Mutation_p.R316C|PSIP1_uc003zma.4_Missense_Mutation_p.R307C|PSIP1_uc003zly.3_Missense_Mutation_p.R316C	NM_033222	NP_150091	O75475	PSIP1_HUMAN	Homo sapiens PC4 and SFRS1 interacting protein 1 (PSIP1), transcript variant 2, mRNA.	316					initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	DNA secondary structure binding|RNA polymerase II transcription coactivator activity|activating transcription factor binding|chromatin binding			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		TCTTGCTTGCGTTTTCGATCT	0.358000												
VSIG10	54621	broad.mit.edu	37	12	118506296	118506296	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:118506296G>A	uc001tws.3	-	7	1787	c.1453C>T	c.(1453-1455)Cgt>Tgt	p.R485C		NM_019086	NP_061959	Q8N0Z9	VSI10_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 10 (VSIG10), mRNA.	485	Glu-rich.					integral to membrane		p.R485C(2)		endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						TCTCTCTCACGTGCTCCCTCC	0.493000												
C7	730	broad.mit.edu	37	5	40959677	40959677	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:40959677C>T	uc003jmh.3	+	11	1730	c.1616C>T	c.(1615-1617)aCg>aTg	p.T539M	C7_uc011cpn.1_Non-coding_Transcript	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	539	TSP type-1 2.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		p.T539M(1)					Ovarian(839;0.0112)				GTTGGAGAAACGACAGAAAGC	0.542000												
HHIP	64399	broad.mit.edu	37	4	145659003	145659003	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:145659003G>A	uc003ijs.2	+	12	2677	c.1997G>A	c.(1996-1998)tGt>tAt	p.C666Y		NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	Homo sapiens hedgehog interacting protein (HHIP), mRNA.	666	EGF-like 2.					cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GGTCCTCAATGTGAACAAGTG	0.438000												
HRG	3273	broad.mit.edu	37	3	186395126	186395126	+	Silent	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:186395126T>C	uc003fqq.3	+	6	1055	c.1032T>C	c.(1030-1032)aaT>aaC	p.N344N		NM_000412	NP_000403	P04196	HRG_HUMAN	Homo sapiens histidine-rich glycoprotein (HRG), mRNA.	344					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)		CTCATAATAATAATTCCAGTG	0.483000												
HIVEP2	3097	broad.mit.edu	37	6	143092794	143092794	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:143092794G>A	uc003qjd.3	-	4	3825	c.3082C>T	c.(3082-3084)Cga>Tga	p.R1028*		NM_006734	NP_006725	P31629	ZEP2_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA.	1028					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R1028*(2)		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)		GAGCAGCGTCGCATCTCTTTC	0.507000												
RNF220	55182	broad.mit.edu	37	1	45110700	45110700	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:45110700C>T	uc001clv.1	+	9	1617	c.1257C>T	c.(1255-1257)ggC>ggT	p.G419G	RNF220_uc001clw.1_Silent_p.G419G|RNF220_uc010oky.1_Silent_p.G206G|RNF220_uc010okz.2_Silent_p.G161G|RNF220_uc001clx.2_Silent_p.G135G|RNF220_uc001cma.1_Silent_p.G98G	NM_018150	NP_060620	Q5VTB9	RN220_HUMAN	Homo sapiens ring finger protein 220 (RNF220), mRNA.	419					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						CCTGCACAGGCGAGGAGCCTG	0.572000												
DNAH3	55567	broad.mit.edu	37	16	21033308	21033308	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:21033308A>G	uc010vbe.2	-	39	5761	c.5761T>C	c.(5761-5763)Tac>Cac	p.Y1921H		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1921					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AGAGAAGAGTACAGTCTCATC	0.463000												
HECW1	23072	broad.mit.edu	37	7	43594297	43594297	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:43594297C>T	uc003tid.1	+	28	5222	c.4617C>T	c.(4615-4617)agC>agT	p.S1539S	HECW1_uc011kbi.1_Silent_p.S1505S	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	1539	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	p.S1518R(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GAACATCCAGCGTGCCCTACG	0.557000												
MSH4	4438	broad.mit.edu	37	1	76272758	76272758	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:76272758G>A	uc001dhd.2	+	2	635	c.520G>A	c.(520-522)Gca>Aca	p.A174T		NM_002440	NP_002431	O15457	MSH4_HUMAN	Homo sapiens mutS homolog 4 (E. coli) (MSH4), mRNA.	174					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						AATAGGAATGGCAAGTATTGA	0.383000								Mismatch excision repair (MMR)				
CTRL	1506	broad.mit.edu	37	16	67964654	67964654	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:67964654G>T	uc002euw.3	-	3	316	c.293C>A	c.(292-294)cCc>cAc	p.P98H	PSMB10_uc002eux.2_3'UTR	NM_001907	NP_001898	P40313	CTRL_HUMAN	Homo sapiens chymotrypsin-like (CTRL), mRNA.	98	Peptidase S1.				digestion|proteolysis	extracellular space	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|urinary_tract(1)	4		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		AACCTGCAAGGGCTCTGCGTT	0.617000												
POT1	25913	broad.mit.edu	37	7	124482994	124482994	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:124482994C>T	uc003vlm.3	-	12	1631	c.1030G>A	c.(1030-1032)Gag>Aag	p.E344K	POT1_uc011koe.2_Non-coding_Transcript|POT1_uc003vlk.3_Non-coding_Transcript|POT1_uc003vll.3_Non-coding_Transcript|POT1_uc003vln.3_Non-coding_Transcript|POT1_uc003vlo.3_Missense_Mutation_p.E213K	NM_015450	NP_001036059	Q9NUX5	POTE1_HUMAN	Homo sapiens protection of telomeres 1 homolog (S. pombe) (POT1), transcript variant 1, mRNA.	344					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity	p.L343F(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						GGTGTCCTCTCCAAATACTGA	0.348000												
EFCAB1	79645	broad.mit.edu	37	8	49643974	49643974	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:49643974A>T	uc003xqo.2	-	1	307	c.147T>A	c.(145-147)gaT>gaA	p.D49E	EFCAB1_uc003xqn.3_Intron|EFCAB1_uc011ldj.1_Intron|EFCAB1_uc010lxx.2_Intron|EFCAB1_uc011ldk.1_Intron	NM_024593	NP_078869	Q9HAE3	EFCB1_HUMAN	Homo sapiens EF-hand calcium binding domain 1 (EFCAB1), transcript variant 1, mRNA.	49							calcium ion binding			endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)				ATGCATTACGATCCAGTCCAA	0.368000												
GALNTL1	57452	broad.mit.edu	37	14	69795264	69795264	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:69795264G>A	uc001xlb.2	+	5	993	c.666G>A	c.(664-666)ccG>ccA	p.P222P	GALNTL1_uc001xla.2_Silent_p.P222P|GALNTL1_uc010aqu.2_Silent_p.P222P	NM_020692	NP_065743	Q8N428	GLTL1_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1 (GALNTL1), transcript variant 2, mRNA.	222	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|stomach(2)	24				all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656)		AGTGGCTGCCGCCCATGCTGC	0.642000												
C21orf7	56911	broad.mit.edu	37	21	30532270	30532270	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr21:30532270G>A	uc002ynf.3	+	7	718	c.441G>A	c.(439-441)ccG>ccA	p.P147P	C21orf7_uc011acr.2_Non-coding_Transcript|C21orf7_uc002ynd.3_Non-coding_Transcript|C21orf7_uc010gln.3_Non-coding_Transcript|C21orf7_uc002yne.3_Silent_p.P147P|C21orf7_uc010glo.3_5'UTR|C21orf7_uc002yng.3_Silent_p.P47P|C21orf7_uc010glp.3_Non-coding_Transcript	NM_020152	NP_064537	P57077	TAK1L_HUMAN	Homo sapiens chromosome 21 open reading frame 7 (C21orf7), mRNA.	147						cytosol|nucleus	protein binding			ovary(2)|prostate(1)	3				Colorectal(56;0.248)		AGCCCCTGCCGCCTTGTCATG	0.433000												
TRPV1	7442	broad.mit.edu	37	17	3476959	3476959	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:3476959C>T	uc010vro.2	-	12	2137	c.2104G>A	c.(2104-2106)Gca>Aca	p.A702T	TRPV1_uc010vrp.2_Missense_Mutation_p.A631T|TRPV1_uc010vrq.2_Missense_Mutation_p.A689T|TRPV1_uc010vrr.2_Missense_Mutation_p.A691T|TRPV1_uc010vrs.2_Missense_Mutation_p.A691T|TRPV1_uc010vrt.2_Missense_Mutation_p.A691T|TRPV1_uc010vru.2_Missense_Mutation_p.A691T	NM_080706	NP_542437	Q8NER1	TRPV1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 1 (TRPV1), transcript variant 3, mRNA.	691	AD (By similarity).				cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	CTCTCCTGTGCGATCTTGTTG	0.567000												
SART1	9092	broad.mit.edu	37	11	65743960	65743960	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:65743960C>T	uc001ogl.3	+	12	1759	c.1667C>T	c.(1666-1668)aCg>aTg	p.T556M		NM_005146	NP_005137	O43290	SNUT1_HUMAN	Homo sapiens squamous cell carcinoma antigen recognized by T cells (SART1), mRNA.	556					cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TTCAACGCCACGTCCGAGTTC	0.672000												
ADRA1A	148	broad.mit.edu	37	8	26722237	26722237	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:26722237C>T	uc003xfc.1	-	0	686	c.250G>A	c.(250-252)Gcc>Acc	p.A84T	ADRA1A_uc010lul.1_Missense_Mutation_p.A84T|ADRA1A_uc003xfd.1_Non-coding_Transcript|ADRA1A_uc003xfe.1_Missense_Mutation_p.A84T|ADRA1A_uc010lum.1_Missense_Mutation_p.A84T|ADRA1A_uc003xff.1_Non-coding_Transcript|ADRA1A_uc003xfg.1_Missense_Mutation_p.A84T|ADRA1A_uc003xfh.1_Missense_Mutation_p.A84T|ADRA1A_uc022atd.1_Missense_Mutation_p.A84T	NM_033303	NP_150646	P35348	ADA1A_HUMAN	Homo sapiens adrenergic, alpha-1A-, receptor (ADRA1A), transcript variant 2, mRNA.	84					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of Rho protein signal transduction|negative regulation of cell proliferation|negative regulation of synaptic transmission, GABAergic|positive regulation of ERK1 and ERK2 cascade|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	TCGAAGATGGCGGAGAAGGGC	0.627000												
PRDM13	59336	broad.mit.edu	37	6	100062403	100062403	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:100062403G>A	uc003pqg.1	+	3	2153	c.1892G>A	c.(1891-1893)cGc>cAc	p.R631H		NM_021620	NP_067633	Q9H4Q3	PRD13_HUMAN	Homo sapiens PR domain containing 13 (PRDM13), mRNA.	631					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		ACGCCCTACCGCTGCGAGTTC	0.637000												
APOH	350	broad.mit.edu	37	17	64216750	64216750	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:64216750G>A	uc002jfn.4	-	4	585	c.526C>T	c.(526-528)Cca>Tca	p.P176S		NM_000042	NP_000033	P02749	APOH_HUMAN	Homo sapiens apolipoprotein H (beta-2-glycoprotein I) (APOH), mRNA.	176	Sushi 3.				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			GCATGTTGTGGCAAACATTCA	0.428000												
NSD1	64324	broad.mit.edu	37	5	176638998	176638998	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:176638998C>T	uc003mfr.4	+	4	3736	c.3598C>T	c.(3598-3600)Cgg>Tgg	p.R1200W	NSD1_uc003mft.4_Missense_Mutation_p.R931W|NSD1_uc003mfs.1_Missense_Mutation_p.R1097W|NSD1_uc011dfx.2_Missense_Mutation_p.R848W	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Homo sapiens nuclear receptor binding SET domain protein 1 (NSD1), transcript variant 2, mRNA.	1200					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GCAGGAGGGGCGGGATGAGTT	0.488000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)		
BAI3	577	broad.mit.edu	37	6	69758103	69758103	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:69758103G>T	uc010kak.3	+	12	2410	c.2134G>T	c.(2134-2136)Gcc>Tcc	p.A712S	BAI3_uc003pev.4_Missense_Mutation_p.A712S	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	712					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GCTTCCTGCAGCCTCTGTTCT	0.353000												
ZNF329	79673	broad.mit.edu	37	19	58639657	58639657	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:58639657C>T	uc002qrn.3	-	3	1451	c.1214G>A	c.(1213-1215)gGc>gAc	p.G405D	ZNF329_uc010euk.1_Non-coding_Transcript|ZNF329_uc002qro.1_Non-coding_Transcript|ZNF329_uc002qrp.1_Non-coding_Transcript|ZNF329_uc021vcv.1_Missense_Mutation_p.G405D	NM_024620	NP_078896	Q86UD4	ZN329_HUMAN	Homo sapiens zinc finger protein 329 (ZNF329), mRNA.	405					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		GAAAGTCTTGCCACATTCTTT	0.463000												
RAB36	9609	broad.mit.edu	37	22	23494702	23494702	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:23494702C>T	uc002zwv.1	+	3	454	c.414C>T	c.(412-414)agC>agT	p.S138S	RAB36_uc010gtw.1_Intron	NM_004914	NP_004905	O95755	RAB36_HUMAN	Homo sapiens RAB36, member RAS oncogene family (RAB36), mRNA.	138					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.155)		GGAAGACCAGCCTCATCCACA	0.567000												
RBM14	10432	broad.mit.edu	37	11	66411175	66411175	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:66411175A>G	uc009yrj.3	+	2	1155	c.667A>G	c.(667-669)Aag>Gag	p.K223E	RBM14_uc009yrk.3_Missense_Mutation_p.K198E|RBM14_uc021qmb.1_Intron|RBM14_uc001oiw.2_Missense_Mutation_p.K223E|RBM14_uc001oix.2_Intron|RBM14_uc010rpj.2_Intron|RBM14_uc001oiz.2_Missense_Mutation_p.K223E	NM_002896	NP_002887	Q96PK6	RBM14_HUMAN	Homo sapiens RNA binding motif protein 4 (RBM4), transcript variant 1, mRNA.	418					DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	RNA binding|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						TGCCTACTACAAGCGCTGCCG	0.547000												
KRT75	9119	broad.mit.edu	37	12	52822241	52822241	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:52822241G>A	uc001saj.2	-	6	1203	c.1181C>T	c.(1180-1182)gCc>gTc	p.A394V		NM_004693	NP_004684	O95678	K2C75_HUMAN	Homo sapiens keratin 75 (KRT75), mRNA.	394	Coil 2.|Rod.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		ATCAGCAATGGCCGTTTGCAA	0.572000												
KATNAL2	83473	broad.mit.edu	37	18	44579417	44579417	+	Splice_Site	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:44579417G>T	uc002lco.3	+	2	267	c.73_splice	c.e2+1	p.A25_splice	KATNAL2_uc010dnq.1_Intron	NM_031303	NP_112593	Q8IYT4	KATL2_HUMAN	Homo sapiens katanin p60 subunit A-like 2 (KATNAL2), mRNA.	97	LisH.					cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						ATCAGACACAGGTACATGCCT	0.348000												
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48809431	48809431	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:48809431G>A	uc002rwp.2	+	1	1773	c.1659G>A	c.(1657-1659)gcG>gcA	p.A553A	STON1-GTF2A1L_uc021vhf.1_Silent_p.A553A|STON1-GTF2A1L_uc002rwo.4_Silent_p.A553A|STON1-GTF2A1L_uc010fbm.3_Silent_p.A553A|STON1-GTF2A1L_uc010yol.2_Silent_p.A553A	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA.	553					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex		p.A553A(3)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CCTCATTGGCGCAGAGGTCAT	0.478000												
INTS8	55656	broad.mit.edu	37	8	95886789	95886789	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:95886789C>T	uc003yhb.3	+	22	2773	c.2647C>T	c.(2647-2649)Cga>Tga	p.R883*	INTS8_uc011lgq.2_Non-coding_Transcript|INTS8_uc011lgr.2_Non-coding_Transcript|INTS8_uc010mba.3_Intron	NM_017864	NP_060334	Q75QN2	INT8_HUMAN	Homo sapiens integrator complex subunit 8 (INTS8), mRNA.	883					snRNA processing	integrator complex	protein binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					GGTAATAAAACGAATGATAAA	0.284000												
KIAA1199	57214	broad.mit.edu	37	15	81172107	81172107	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:81172107C>T	uc002bfw.1	+	3	552	c.292C>T	c.(292-294)Cac>Tac	p.H98Y	KIAA1199_uc010unn.1_Missense_Mutation_p.H98Y	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	Homo sapiens KIAA1199 (KIAA1199), mRNA.	98	G8.							p.R97Q(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GCGAACCCGGCACATCCTGAT	0.507000												
TRIO	7204	broad.mit.edu	37	5	14401091	14401091	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:14401091C>T	uc003jff.3	+	30	4640	c.4634C>T	c.(4633-4635)aCa>aTa	p.T1545I	TRIO_uc003jfg.3_Non-coding_Transcript|TRIO_uc003jfh.1_Missense_Mutation_p.T1194I	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	1545	PH 1.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TTGGGTGTCACAGAACATGTT	0.393000												
PLEKHF2	79666	broad.mit.edu	37	8	96166313	96166313	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:96166313G>A	uc022ayk.1	+	0	41	c.41G>A	c.(40-42)cGt>cAt	p.R14H	PLEKHF2_uc003yhn.2_Missense_Mutation_p.R14H	NM_024613	NP_078889	Q9H8W4	PKHF2_HUMAN	Homo sapiens pleckstrin homology domain containing, family F (with FYVE domain) member 2 (PLEKHF2), mRNA.	14						transport vesicle	metal ion binding|protein binding			breast(1)|large_intestine(1)|lung(1)|ovary(2)	5	Breast(36;3.18e-05)					AATACTAGACGTATAAGTATA	0.348000												
LSM14B	149986	broad.mit.edu	37	20	60699742	60699742	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:60699742A>G	uc010gjy.1	+	1	403	c.197A>G	c.(196-198)tAc>tGc	p.Y66C	LSM14B_uc002ybt.2_Missense_Mutation_p.Y66C|LSM14B_uc010gjx.1_Missense_Mutation_p.Y66C|LSM14B_uc010gjz.1_5'UTR|LSM14B_uc010zzz.1_5'UTR	NM_144703	NP_653304	Q9BX40	LS14B_HUMAN	Homo sapiens LSM14B, SCD6 homolog B (S. cerevisiae) (LSM14B), mRNA.	66				Y -> N (in Ref. 4; BX354437).	multicellular organismal development|regulation of translation	ribonucleoprotein complex				endometrium(3)|kidney(1)|lung(4)	8	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			ATTTATGAGTACATCATTTTC	0.502000												
SLC20A1	6574	broad.mit.edu	37	2	113414818	113414818	+	Splice_Site	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:113414818C>T	uc002tib.3	+	6	1317	c.778_splice	c.e6+1	p.R260_splice	SLC20A1_uc002tic.1_Splice_Site_p.R72_splice	NM_005415	NP_005406	Q8WUM9	S20A1_HUMAN	Homo sapiens solute carrier family 20 (phosphate transporter), member 1 (SLC20A1), mRNA.	260					phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						AAAAATTGAACGTAAGTAATA	0.373000												
DOCK11	139818	broad.mit.edu	37	X	117722426	117722426	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:117722426C>T	uc004eqp.2	+	17	2094	c.2031C>T	c.(2029-2031)gaC>gaT	p.D677D	DOCK11_uc004eqq.2_Silent_p.D443D	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	Homo sapiens dedicator of cytokinesis 11 (DOCK11), mRNA.	677	DHR-1.				blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						ATGAAAGTGACGCTAGTGCCC	0.353000												
TRIM9	114088	broad.mit.edu	37	14	51448575	51448575	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:51448575G>A	uc001wyx.4	-	7	2615	c.1850C>T	c.(1849-1851)gCa>gTa	p.A617V	TRIM9_uc001wyy.2_Missense_Mutation_p.A698V	NM_015163	NP_055978	Q9C026	TRIM9_HUMAN	Homo sapiens tripartite motif containing 9 (TRIM9), transcript variant 1, mRNA.	617	B30.2/SPRY.				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					CACATACATTGCCCAAGCTTT	0.517000												
SYNM	23336	broad.mit.edu	37	15	99653893	99653893	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:99653893G>A	uc002bup.3	+	2	1025	c.905G>A	c.(904-906)gGc>gAc	p.G302D	SYNM_uc002buo.3_Missense_Mutation_p.G302D|SYNM_uc002buq.3_Non-coding_Transcript	NM_145728	NP_663780	O15061	SYNEM_HUMAN	Homo sapiens synemin, intermediate filament protein (SYNM), transcript variant A, mRNA.	303	Interaction with DMD and UTRN.|Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						GTGAAGACCGGCCTCAGTCTG	0.567000												
ALPK3	57538	broad.mit.edu	37	15	85400381	85400381	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:85400381G>A	uc002ble.3	+	5	3185	c.3018G>A	c.(3016-3018)ccG>ccA	p.P1006P		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	Homo sapiens alpha-kinase 3 (ALPK3), mRNA.	1006					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CAGCACAGCCGCCCCATGAGG	0.627000												
ABI3	51225	broad.mit.edu	37	17	47295191	47295191	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:47295191G>A	uc002iop.1	+	2	874	c.376G>A	c.(376-378)Gcc>Acc	p.A126T	ABI3_uc002ioq.1_Missense_Mutation_p.A120T	NM_016428	NP_057512	Q9P2A4	ABI3_HUMAN	Homo sapiens ABI family, member 3 (ABI3), transcript variant 1, mRNA.	126					cellular component movement|regulation of cell migration	cytoplasm|lamellipodium	protein binding	p.A126T(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	12			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			GAAGGTCATCGCCCCAGAGAA	0.607000										HNSCC(55;0.14)		
CDK20	23552	broad.mit.edu	37	9	90585726	90585726	+	Silent	SNP	G	G	A	rs150818250	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:90585726G>A	uc004apr.3	-	3	799	c.465C>T	c.(463-465)gaC>gaT	p.D155D	CDK20_uc004aps.3_Silent_p.D155D|CDK20_uc022bjj.1_Silent_p.D155D|CDK20_uc004apt.3_Silent_p.D168D|CDK20_uc004apu.3_Silent_p.D155D	NM_001039803	NP_001034892	Q8IZL9	CDK20_HUMAN	Homo sapiens cyclin-dependent kinase 20 (CDK20), transcript variant 3, mRNA.	155	Protein kinase.				cell division|multicellular organismal development	cilium|mitochondrion|nucleus	ATP binding|cyclin-dependent protein kinase activity			skin(1)	1						GGCGGCTGCCGTCTGGGGAAA	0.592000												
THBS1	7057	broad.mit.edu	37	15	39885659	39885659	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:39885659C>T	uc001zkh.3	+	18	3236	c.3057C>T	c.(3055-3057)gaC>gaT	p.D1019D	THBS1_uc010bbi.3_Silent_p.D491D	NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	1019	TSP C-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding	p.R1018M(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	CCGAAAGGGACGATGACTATG	0.502000												
AURKA	6790	broad.mit.edu	37	20	54959346	54959346	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:54959346C>T	uc002xxe.1	-	4	611	c.354G>A	c.(352-354)caG>caA	p.Q118Q	AURKA_uc002xxf.1_Silent_p.Q118Q|AURKA_uc002xxg.1_Silent_p.Q118Q|AURKA_uc002xxh.1_Silent_p.Q118Q|AURKA_uc002xxi.1_Silent_p.Q118Q|AURKA_uc002xxj.1_Silent_p.Q118Q|AURKA_uc010zzd.1_Non-coding_Transcript|AURKA_uc002xxd.1_Silent_p.Q118Q	NM_198434	NP_940839	O14965	AURKA_HUMAN	Homo sapiens aurora kinase A (AURKA), transcript variant 3, mRNA.	118					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|phosphatidylinositol-mediated signaling|regulation of protein stability|spindle organization	cytosol|nucleus|perinuclear region of cytoplasm|spindle microtubule|spindle pole centrosome	ATP binding|protein kinase binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|lung(9)|ovary(2)|prostate(1)|skin(2)	22			Colorectal(105;0.202)			CTTCATTTTTCTGTTTTGATG	0.299000												
RNF19A	25897	broad.mit.edu	37	8	101277003	101277003	+	Missense_Mutation	SNP	C	C	T	rs138968684	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:101277003C>T	uc003yjj.1	-	6	1519	c.1202G>A	c.(1201-1203)cGc>cAc	p.R401H	RNF19A_uc003yjk.1_Missense_Mutation_p.R401H	NM_015435	NP_904355	Q9NV58	RN19A_HUMAN	Homo sapiens ring finger protein 19A (RNF19A), transcript variant 2, mRNA.	401					microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			GCCTTCATAGCGATTGTGAAT	0.373000												
CALD1	800	broad.mit.edu	37	7	134632408	134632408	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:134632408C>T	uc003vrz.3	+	7	2148	c.1682C>T	c.(1681-1683)gCg>gTg	p.A561V	CALD1_uc003vry.3_Missense_Mutation_p.A306V|CALD1_uc003vsb.3_Missense_Mutation_p.A306V|CALD1_uc011kpt.2_Missense_Mutation_p.A80V|CALD1_uc010lmm.3_Missense_Mutation_p.A332V|CALD1_uc003vsc.3_Missense_Mutation_p.A326V|CALD1_uc003vsd.3_Missense_Mutation_p.A300V|CALD1_uc011kpu.2_Missense_Mutation_p.A311V|CALD1_uc011kpv.2_Missense_Mutation_p.A170V|CALD1_uc003vse.3_Missense_Mutation_p.A425V	NM_033138	NP_149129	Q05682	CALD1_HUMAN	Homo sapiens caldesmon 1 (CALD1), transcript variant 1, mRNA.	561					cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						cagcaggaggcggctttggag	0.582000												
SASH1	23328	broad.mit.edu	37	6	148808836	148808836	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:148808836C>T	uc003qme.1	+	7	1189	c.714C>T	c.(712-714)ggC>ggT	p.G238G		NM_015278	NP_056093	O94885	SASH1_HUMAN	Homo sapiens SAM and SH3 domain containing 1 (SASH1), mRNA.	238							protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		CGTTTGATGGCTCATCAAACT	0.478000												
HERC2	8924	broad.mit.edu	37	15	28501354	28501354	+	Missense_Mutation	SNP	G	G	A	rs149493788		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:28501354G>A	uc001zbj.3	-	17	2733	c.2627C>T	c.(2626-2628)gCg>gTg	p.A876V	HERC2_uc001zbl.1_Missense_Mutation_p.A571V	NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	876					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)		CAGCACGCCCGCACTGCTGGC	0.667000												
PRKCG	5582	broad.mit.edu	37	19	54406360	54406360	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:54406360G>T	uc002qcq.1	+	14	1891	c.1609G>T	c.(1609-1611)Gat>Tat	p.D537Y	PRKCG_uc010yeg.1_Missense_Mutation_p.D537Y|PRKCG_uc010yeh.1_Missense_Mutation_p.D424Y	NM_002739	NP_002730	P05129	KPCG_HUMAN	Homo sapiens protein kinase C, gamma (PRKCG), mRNA.	537	Protein kinase.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		GAAGTCTGTCGATTGGTGGTC	0.542000												
MYO16	23026	broad.mit.edu	37	13	109792683	109792683	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:109792683C>T	uc010agk.2	+	31	4745	c.4123C>T	c.(4123-4125)Cgc>Tgc	p.R1375C	MYO16_uc001vqt.1_Missense_Mutation_p.R1353C	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.	1353					cerebellum development|negative regulation of S phase of mitotic cell cycle|negative regulation of cell proliferation	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	ATP binding|actin filament binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			AAAGCCCAAGCGCAGCCCCAA	0.701000												
TIAM1	7074	broad.mit.edu	37	21	32526578	32526578	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr21:32526578C>T	uc002yow.1	-	17	3630	c.3158G>A	c.(3157-3159)cGc>cAc	p.R1053H	TIAM1_uc011adk.1_Missense_Mutation_p.R1053H|TIAM1_uc011adl.1_Missense_Mutation_p.R993H	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA.	1053	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity	p.R1053H(3)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CACGTAGGTGCGCTCCGTCTC	0.547000												
GRM1	2911	broad.mit.edu	37	6	146720226	146720226	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:146720226G>A	uc010khw.1	+	7	2521	c.2051G>A	c.(2050-2052)cGc>cAc	p.R684H	GRM1_uc010khv.1_Missense_Mutation_p.R684H|GRM1_uc003qll.2_Missense_Mutation_p.R684H|GRM1_uc011edz.1_Missense_Mutation_p.R684H|GRM1_uc011eea.1_Missense_Mutation_p.R684H	NM_000838	NP_000829	Q13255	GRM1_HUMAN	Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	684					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.R684C(2)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CGTATTGCACGCATCCTGGCT	0.522000												
BTN2A2	10385	broad.mit.edu	37	6	26392964	26392964	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:26392964C>T	uc003nht.3	+	7	1474	c.1341C>T	c.(1339-1341)ggC>ggT	p.G447G	BTN2A2_uc003nhs.3_Intron|BTN2A2_uc003nhq.3_Silent_p.G447G|BTN2A2_uc003nhr.3_Silent_p.G331G|BTN2A2_uc011dkh.2_Silent_p.G237G|BTN2A2_uc011dkg.2_3'UTR|BTN2A2_uc011dki.1_3'UTR	NM_001197237	NP_001184166	Q8WVV5	BT2A2_HUMAN	Homo sapiens butyrophilin, subfamily 2, member A2 (BTN2A2), transcript variant 3, mRNA.	447	B30.2/SPRY.				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						GCCGGGTGGGCGTCTTCCTGG	0.537000												
PJA1	64219	broad.mit.edu	37	X	68382185	68382185	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:68382185G>A	uc022byl.1	-	0	897	c.897C>T	c.(895-897)ggC>ggT	p.G299G	PJA1_uc004dxg.3_Silent_p.G111G|PJA1_uc004dxh.3_Silent_p.G299G|PJA1_uc004dxi.3_Silent_p.G244G|PJA1_uc011mpi.2_Silent_p.G17G	NM_001032396	NP_001027568	Q8NG27	PJA1_HUMAN	Homo sapiens praja ring finger 1 (PJA1), transcript variant 2, mRNA.	299							zinc ion binding			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						CATCCGAGTGGCCCTCATTGT	0.502000												
ZNF599	148103	broad.mit.edu	37	19	35250659	35250659	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:35250659C>T	uc010edn.1	-	3	1435	c.1047G>A	c.(1045-1047)acG>acA	p.T349T	ZNF599_uc010edm.2_Silent_p.T312T	NM_001007248	NP_001007249	Q96NL3	ZN599_HUMAN	Homo sapiens zinc finger protein 599 (ZNF599), mRNA.	349					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			TGGAGCGGTGCGTGAAGGCCT	0.423000												
TRAPPC10	7109	broad.mit.edu	37	21	45479056	45479056	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr21:45479056G>A	uc002zea.3	+	5	920	c.751G>A	c.(751-753)Gcc>Acc	p.A251T	TRAPPC10_uc010gpo.3_5'UTR|TRAPPC10_uc002zdz.3_Missense_Mutation_p.A251T	NM_003274	NP_003265	P48553	TPC10_HUMAN	Homo sapiens trafficking protein particle complex 10 (TRAPPC10), mRNA.	251					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						CGAACTGGACGCCCTCTTCTC	0.507000												
ZFAT	57623	broad.mit.edu	37	8	135614866	135614866	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:135614866C>T	uc003yup.3	-	5	1282	c.1096G>A	c.(1096-1098)Gtc>Atc	p.V366I	ZFAT_uc003yun.3_Missense_Mutation_p.V354I|ZFAT_uc003yuo.3_Missense_Mutation_p.V354I|ZFAT_uc010meh.3_Missense_Mutation_p.V354I|ZFAT_uc010mej.3_Missense_Mutation_p.V304I|ZFAT_uc010mei.3_Non-coding_Transcript|ZFAT_uc003yuq.3_Missense_Mutation_p.V354I|ZFAT_uc003yur.3_Missense_Mutation_p.V354I	NM_020863	NP_001161055	Q9P243	ZFAT_HUMAN	Homo sapiens zinc finger and AT hook domain containing (ZFAT), transcript variant 1, mRNA.	366					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			AGGTTCTTGACGTCAGAGTAC	0.557000												
KIAA1715	80856	broad.mit.edu	37	2	176794704	176794704	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:176794704C>T	uc010fqw.1	-	12	1476	c.1476G>A	c.(1474-1476)acG>acA	p.T492T	KIAA1715_uc010zes.1_Silent_p.T428T|KIAA1715_uc002ukd.1_Silent_p.T303T|KIAA1715_uc002ukc.1_Silent_p.T426T|KIAA1715_uc010zer.1_Silent_p.T457T|KIAA1715_uc010zet.1_Non-coding_Transcript			Q9C0E8	LNP_HUMAN	Homo sapiens KIAA1715 (KIAA1715), mRNA.	426						integral to membrane	protein binding	p.T426T(1)		endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			ACTACTCTGCCGTCAAAGATT	0.428000												
SCG3	29106	broad.mit.edu	37	15	51975601	51975601	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:51975601A>G	uc002abh.3	+	3	770	c.367A>G	c.(367-369)Act>Gct	p.T123A	SCG3_uc010ufz.2_5'UTR	NM_013243	NP_001158729	Q8WXD2	SCG3_HUMAN	Homo sapiens secretogranin III (SCG3), transcript variant 1, mRNA.	123					platelet activation|platelet degranulation	extracellular region|stored secretory granule				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		TTATGACTCTACTAAGAGTGG	0.328000												
RAB11FIP3	9727	broad.mit.edu	37	16	511442	511442	+	Silent	SNP	C	C	T	rs149492456		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:511442C>T	uc002chf.3	+	1	1092	c.753C>T	c.(751-753)ctC>ctT	p.L251L		NM_014700	NP_055515	O75154	RFIP3_HUMAN	Homo sapiens RAB11 family interacting protein 3 (class II) (RAB11FIP3), transcript variant 1, mRNA.	251	EF-hand 2.				cell cycle|cytokinesis|endocytic recycling|protein transport	centrosome|cleavage furrow|midbody|recycling endosome membrane	ADP-ribosylation factor binding|Rab GTPase binding|calcium ion binding|protein homodimerization activity			breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12		Hepatocellular(16;0.0218)				CCAGTGGGCTCGGCGTGATCA	0.537000												
OR1E2	8388	broad.mit.edu	37	17	3336709	3336709	+	Missense_Mutation	SNP	C	C	T	rs112466079		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:3336709C>T	uc010vre.2	-	0	427	c.427G>A	c.(427-429)Gcc>Acc	p.A143T		NM_003554	NP_003545	P47887	OR1E2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily E, member 2 (OR1E2), mRNA.	143					sensory perception of smell	integral to plasma membrane	olfactory receptor activity	p.A143T(2)		endometrium(3)|large_intestine(3)|lung(3)	9						CTCATGATGGCGGTGTAGTGC	0.572000												
TPD52L1	7164	broad.mit.edu	37	6	125550412	125550412	+	Splice_Site	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:125550412C>T	uc003pzu.1	+	3	503	c.284_splice	c.e3+1	p.A95_splice	TPD52L1_uc003pzv.1_Splice_Site_p.A95_splice|TPD52L1_uc003pzw.1_Splice_Site_p.A95_splice|TPD52L1_uc003pzx.1_Splice_Site_p.A66_splice|TPD52L1_uc003pzy.1_Splice_Site_p.A66_splice|TPD52L1_uc003pzz.1_Splice_Site_p.A66_splice	NM_003287	NP_001003395	Q16890	TPD53_HUMAN	Homo sapiens tumor protein D52-like 1 (TPD52L1), transcript variant 1, mRNA.	95					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)		ACTACCACTGCGTAAGTATCA	0.388000												
FN1	2335	broad.mit.edu	37	2	216298122	216298122	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:216298122G>A	uc002vfa.3	-	2	606	c.340C>T	c.(340-342)Cgt>Tgt	p.R114C	FN1_uc002vfc.3_Missense_Mutation_p.R114C|FN1_uc002vfe.3_Missense_Mutation_p.R114C|FN1_uc002vff.3_Missense_Mutation_p.R114C|FN1_uc002vfg.3_Missense_Mutation_p.R114C|FN1_uc002vfh.3_Missense_Mutation_p.R114C|FN1_uc002vfi.3_Missense_Mutation_p.R114C|FN1_uc002vfj.3_Missense_Mutation_p.R114C|FN1_uc002vfb.3_Missense_Mutation_p.R114C|FN1_uc002vfl.3_Missense_Mutation_p.R114C	NM_212482	NP_997647	P02751	FINC_HUMAN	Homo sapiens fibronectin 1 (FN1), transcript variant 1, mRNA.	114	Fibrin- and heparin-binding 1.|Fibronectin type-I 2.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCTTTAGGACGCTCATAAGTG	0.488000												
ARL4A	10124	broad.mit.edu	37	7	12728427	12728427	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:12728427A>G	uc003ssp.3	+	1	854	c.548A>G	c.(547-549)cAt>cGt	p.H183R	ARL4A_uc003ssq.3_Missense_Mutation_p.H183R|ARL4A_uc021zzq.1_Missense_Mutation_p.H183R|ARL4A_uc003sss.3_Missense_Mutation_p.H183R|ARL4A_uc021zzr.1_Missense_Mutation_p.H183R	NM_001037164	NP_997625	P40617	ARL4A_HUMAN	Homo sapiens ADP-ribosylation factor-like 4A (ARL4A), transcript variant 3, mRNA.	183					small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|protein binding			NS(2)|lung(3)|ovary(1)	6				UCEC - Uterine corpus endometrioid carcinoma (126;0.176)		GAGAAACTACATGATATGATC	0.388000												
TACR3	6870	broad.mit.edu	37	4	104640738	104640738	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:104640738G>A	uc003hxe.1	-	0	236	c.95C>T	c.(94-96)gCg>gTg	p.A32V		NM_001059	NP_001050	P29371	NK3R_HUMAN	Homo sapiens tachykinin receptor 3 (TACR3), mRNA.	32						integral to plasma membrane	tachykinin receptor activity	p.G31G(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		CCCCGTGGCCGCCCCGGCAGC	0.682000												
RBMX2	51634	broad.mit.edu	37	X	129546424	129546424	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:129546424C>T	uc004evt.3	+	5	635	c.571C>T	c.(571-573)Cgc>Tgc	p.R191C		NM_016024	NP_057108	Q9Y388	RBMX2_HUMAN	Homo sapiens RNA binding motif protein, X-linked 2 (RBMX2), mRNA.	191	Lys-rich.						RNA binding|nucleotide binding			breast(4)|endometrium(2)|large_intestine(1)|liver(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	19						GTCACCCAGACGCAAGACAGT	0.483000												
SCG2	7857	broad.mit.edu	37	2	224463687	224463687	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:224463687A>G	uc021vxk.1	-	0	314	c.314T>C	c.(313-315)cTg>cCg	p.L105P	SCG2_uc002vnm.3_Missense_Mutation_p.L105P	NM_003469	NP_003460	P13521	SCG2_HUMAN	Homo sapiens secretogranin II (SCG2), mRNA.	105					MAPKKK cascade|angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		TTCTTCACTCAGTGAATCCCT	0.453000												
SLC12A1	6557	broad.mit.edu	37	15	48518712	48518712	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:48518712C>A	uc001zwn.4	+	4	884	c.668C>A	c.(667-669)aCt>aAt	p.T223N	SLC12A1_uc010uew.1_Missense_Mutation_p.T29N|SLC12A1_uc010bem.3_Intron|SLC12A1_uc010uex.2_Missense_Mutation_p.T223N|SLC12A1_uc001zwq.4_5'UTR|SLC12A1_uc001zwr.4_5'UTR	NM_000338	NP_000329	Q13621	S12A1_HUMAN	Homo sapiens solute carrier family 12 (sodium/potassium/chloride transporters), member 1 (SLC12A1), transcript variant 1, mRNA.	223					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	ACCATGGTAACTTCTATTACT	0.393000												
PPM1D	8493	broad.mit.edu	37	17	58740851	58740851	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:58740851G>A	uc002iyt.2	+	5	1988	c.1756G>A	c.(1756-1758)Ggc>Agc	p.G586S	PPM1D_uc010ddm.2_Non-coding_Transcript	NM_003620	NP_003611	O15297	PPM1D_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1D (PPM1D), mRNA.	586					negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			CAGACTTAGGGGCCAGAAGAA	0.438000											OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)
SLC12A5	57468	broad.mit.edu	37	20	44685882	44685882	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:44685882G>A	uc010zxl.1	+	24	3344	c.3268G>A	c.(3268-3270)Gcc>Acc	p.A1090T	SLC12A5_uc002xrb.2_Missense_Mutation_p.A1067T	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	1090					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)	ATCCCGGGACGCCAAGCTTGT	0.577000												
ABCD4	5826	broad.mit.edu	37	14	74763144	74763144	+	Missense_Mutation	SNP	C	C	T	rs150967109		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:74763144C>T	uc001xpr.2	-	4	586	c.434G>A	c.(433-435)cGc>cAc	p.R145H	ABCD4_uc001xps.2_5'UTR|ABCD4_uc010tur.2_Missense_Mutation_p.R58H|ABCD4_uc001xpu.2_5'UTR|ABCD4_uc001xpv.2_Non-coding_Transcript	NM_005050	NP_005041	O14678	ABCD4_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 4 (ABCD4), transcript variant 1, mRNA.	145	ABC transmembrane type-1.					ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00153)		CTGGCTGATGCGCTGGTCCCT	0.567000												
NOS1	4842	broad.mit.edu	37	12	117672544	117672544	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:117672544G>A	uc001twn.2	-	21	3874	c.3163C>T	c.(3163-3165)Cgt>Tgt	p.R1055C	NOS1_uc021ren.1_Missense_Mutation_p.R685C|NOS1_uc021reo.1_Missense_Mutation_p.R685C|NOS1_uc001twm.2_Missense_Mutation_p.R1021C	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	1021	FAD-binding FR-type.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GTGTGGAGACGCACGAAGATA	0.552000												
PCDHB14	56122	broad.mit.edu	37	5	140605138	140605138	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:140605138C>T	uc003ljb.3	+	0	2061	c.2061C>T	c.(2059-2061)acC>acT	p.T687T		NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	Homo sapiens protocadherin beta 14 (PCDHB14), mRNA.	687					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.T687T(2)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTCCCTCACCGTCTACCTGG	0.706000												
IL4R	3566	broad.mit.edu	37	16	27370284	27370284	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:27370284G>A	uc002don.3	+	8	1060	c.818G>A	c.(817-819)cGc>cAc	p.R273H	IL4R_uc002dop.4_Missense_Mutation_p.R258H|IL4R_uc010bxy.3_Missense_Mutation_p.R273H|IL4R_uc002doo.3_Missense_Mutation_p.R113H	NM_000418	NP_000409	P24394	IL4RA_HUMAN	Homo sapiens interleukin 4 receptor (IL4R), transcript variant 1, mRNA.	273					immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						GCCCGCAGCCGCCTCGTGGCT	0.483000												
C4orf36	132989	broad.mit.edu	37	4	87808929	87808929	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:87808929G>A	uc003hqe.4	-	3	651	c.338C>T	c.(337-339)cCt>cTt	p.P113L		NM_144645	NP_653246	Q96KX1	CD036_HUMAN	Homo sapiens chromosome 4 open reading frame 36 (C4orf36), mRNA.	113										breast(1)|kidney(1)|lung(1)|prostate(1)	4		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00141)		AGATGGAAGAGGTCTTCTCAA	0.423000												
NPFFR2	10886	broad.mit.edu	37	4	72994441	72994441	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:72994441G>A	uc003hgg.2	+	1	537	c.439G>A	c.(439-441)Gca>Aca	p.A147T	NPFFR2_uc010iig.2_Intron|NPFFR2_uc003hgi.2_Missense_Mutation_p.A48T|NPFFR2_uc003hgh.2_Missense_Mutation_p.A45T	NM_004885	NP_444264	Q9Y5X5	NPFF2_HUMAN	Homo sapiens neuropeptide FF receptor 2 (NPFFR2), transcript variant 1, mRNA.	147					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			GCCTCAAGTGGCAGCAATCTT	0.373000												
RBM15	64783	broad.mit.edu	37	1	110884009	110884009	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:110884009G>A	uc001dzl.1	+	0	2065	c.1982G>A	c.(1981-1983)cGc>cAc	p.R661H	RBM15_uc001dzm.1_Missense_Mutation_p.R661H|LOC440600_uc001dzj.3_5'Flank|RBM15_uc021orn.1_Missense_Mutation_p.R661H	NM_022768	NP_073605	Q96T37	RBM15_HUMAN	Homo sapiens RNA binding motif protein 15 (RBM15), transcript variant 1, mRNA.	661	Arg-rich.				interspecies interaction between organisms	nucleus	RNA binding|nucleotide binding|protein binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		GAGAGTGACCGCCCACGAAAA	0.567000			T	MKL1	acute megakaryocytic leukemia							
SYNJ2	8871	broad.mit.edu	37	6	158517270	158517270	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:158517270C>T	uc003qqx.2	+	26	4471	c.4365C>T	c.(4363-4365)ggC>ggT	p.G1455G	SYNJ2_uc003qqy.2_Silent_p.G1218G|SYNJ2_uc003qqz.2_Silent_p.G1072G|SYNJ2_uc003qra.2_Silent_p.G798G	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN	Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.	1455							RNA binding|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			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)		TGTCAGCTGGCGCTTCAGCTG	0.507000												
NAA25	80018	broad.mit.edu	37	12	112513574	112513574	+	Silent	SNP	A	A	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:112513574A>T	uc001ttm.3	-	7	742	c.684T>A	c.(682-684)atT>atA	p.I228I	NAA25_uc001ttn.4_Non-coding_Transcript|NAA25_uc009zvz.2_Silent_p.I200I|NAA25_uc009zwa.2_Silent_p.I228I	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN	Homo sapiens N(alpha)-acetyltransferase 25, NatB auxiliary subunit (NAA25), mRNA.	228						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						CCCGACTCTGAATCTCACTTG	0.413000												
PEPD	5184	broad.mit.edu	37	19	34002042	34002042	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:34002042G>A	uc002nur.4	-	2	354	c.221C>T	c.(220-222)gCg>gTg	p.A74V	PEPD_uc010xrs.2_Intron|PEPD_uc010xrr.2_Missense_Mutation_p.A74V	NM_000285	NP_000276	P12955	PEPD_HUMAN	Homo sapiens peptidase D (PEPD), transcript variant 1, mRNA.	74					cellular amino acid metabolic process|collagen catabolic process|proteolysis		aminopeptidase activity|dipeptidase activity|manganese ion binding|metallocarboxypeptidase activity			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	17	Esophageal squamous(110;0.137)					GACACCGAACGCCCAGTGAAA	0.572000												
LRTM1	57408	broad.mit.edu	37	3	54952504	54952504	+	Silent	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:54952504A>G	uc003dhl.3	-	2	1154	c.1020T>C	c.(1018-1020)ttT>ttC	p.F340F	CACNA2D3_uc003dhf.3_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN	Homo sapiens leucine-rich repeats and transmembrane domains 1 (LRTM1), mRNA.	340						integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		GTGAGCTGTCAAATCGCTCTT	0.502000												
PLEKHG1	57480	broad.mit.edu	37	6	151054969	151054969	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:151054969C>T	uc011eem.1	+	1	417	c.329C>T	c.(328-330)gCc>gTc	p.A110V	PLEKHG1_uc011eel.1_Missense_Mutation_p.A91V|PLEKHG1_uc003qny.1_Missense_Mutation_p.A51V|PLEKHG1_uc003qnz.2_Missense_Mutation_p.A51V	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 1 (PLEKHG1), mRNA.	51					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)		GAGGTAGGGGCCATAAAACTG	0.572000												
TEP1	7011	broad.mit.edu	37	14	20836631	20836631	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:20836631C>T	uc001vxe.3	-	54	7889	c.7849G>A	c.(7849-7851)Gtg>Atg	p.V2617M	TEP1_uc010ahj.1_Non-coding_Transcript|TEP1_uc010ahk.3_3'UTR|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Missense_Mutation_p.V2509M	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	2617					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TTGCCCTGCACGTCTCCCACG	0.547000												
TEX10	54881	broad.mit.edu	37	9	103082626	103082626	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:103082626A>G	uc004bas.3	-	10	2338	c.2123T>C	c.(2122-2124)gTc>gCc	p.V708A	TEX10_uc011lvf.2_Missense_Mutation_p.V547A|TEX10_uc011lvg.2_Missense_Mutation_p.V711A	NM_017746	NP_060216	Q9NXF1	TEX10_HUMAN	Homo sapiens testis expressed 10 (TEX10), transcript variant 1, mRNA.	708						MLL1 complex|integral to membrane|nuclear membrane|nucleolus	binding			NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		TGTCTGGATGACATGAGGAAC	0.383000												
FUZ	80199	broad.mit.edu	37	19	50314650	50314650	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:50314650G>A	uc002ppq.2	-	4	666	c.462C>T	c.(460-462)tgC>tgT	p.C154C	FUZ_uc002ppt.2_Non-coding_Transcript|FUZ_uc002ppu.2_Silent_p.C118C|FUZ_uc010ybd.2_Silent_p.C154C	NM_025129	NP_079405	Q9BT04	FUZZY_HUMAN	Homo sapiens fuzzy homolog (Drosophila) (FUZ), transcript variant 1, mRNA.	154					cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway	cytoplasm|cytoskeleton				endometrium(1)|lung(3)	4		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)		GAGGAATCACGCAGTCCACAC	0.572000												
ALPP	250	broad.mit.edu	37	2	233245418	233245418	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:233245418C>T	uc002vsq.3	+	7	1116	c.951C>T	c.(949-951)gcC>gcT	p.A317A		NM_001632	NP_001623	P05187	PPB1_HUMAN	Homo sapiens alkaline phosphatase, placental (ALPP), mRNA.	317						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		CAGAGGCTGCCCTGCGCCTGC	0.642000												
GSTP1	2950	broad.mit.edu	37	11	67352167	67352167	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:67352167G>A	uc001omf.3	+	3	405	c.156G>A	c.(154-156)caG>caA	p.Q52Q		NM_000852	NP_000843	P09211	GSTP1_HUMAN	Homo sapiens glutathione S-transferase pi 1 (GSTP1), mRNA.	52	GST N-terminal.|Glutathione binding.				anti-apoptosis|cellular response to lipopolysaccharide|central nervous system development|common myeloid progenitor cell proliferation|glutathione metabolic process|negative regulation of ERK1 and ERK2 cascade|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of JUN kinase activity|negative regulation of acute inflammatory response|negative regulation of fibroblast proliferation|negative regulation of interleukin-1 beta production|negative regulation of leukocyte proliferation|negative regulation of monocyte chemotactic protein-1 production|negative regulation of necrotic cell death|negative regulation of nitric-oxide synthase 2 biosynthetic process|negative regulation of stress-activated MAPK cascade|negative regulation of tumor necrosis factor production|nitric oxide storage|positive regulation of superoxide anion generation|response to reactive oxygen species|xenobiotic metabolic process	cytosol|protein complex	JUN kinase binding|S-nitrosoglutathione binding|dinitrosyl-iron complex binding|glutathione transferase activity|kinase regulator activity|nitric oxide binding			central_nervous_system(1)|cervix(1)|endometrium(4)|lung(2)|ovary(1)	9					Ethacrynic acid(DB00903)|Glutathione(DB00143)	TATACGGGCAGCTCCCCAAGT	0.632000												
IL20RB	53833	broad.mit.edu	37	3	136677037	136677037	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:136677037C>T	uc003eri.2	+	0	331	c.82C>T	c.(82-84)Ctc>Ttc	p.L28F	IL20RB_uc003erj.2_Non-coding_Transcript	NM_144717	NP_653318	Q6UXL0	I20RB_HUMAN	Homo sapiens interleukin 20 receptor beta (IL20RB), mRNA.	28						integral to membrane	receptor activity	p.L27L(1)		kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						TCCATGTTTGCTCACAGGTAA	0.383000												
CYFIP1	23191	broad.mit.edu	37	15	22945147	22945147	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:22945147G>A	uc001yus.3	+	11	1322	c.1218G>A	c.(1216-1218)gcG>gcA	p.A406A	CYFIP1_uc001yut.3_Silent_p.A406A|CYFIP1_uc010aya.1_Silent_p.A434A	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 1 (CYFIP1), transcript variant 1, mRNA.	406					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	Rac GTPase binding|actin filament binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		AGTGGAGCGCGCACGTGATGG	0.632000												
GAB4	128954	broad.mit.edu	37	22	17472887	17472887	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:17472887G>A	uc002zlw.3	-	1	462	c.354C>T	c.(352-354)ggC>ggT	p.G118G	GAB4_uc010gqs.1_Silent_p.G118G	NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN	Homo sapiens GRB2-associated binding protein family, member 4 (GAB4), mRNA.	118	PH.									breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				CAAACATATAGCCCTTCTGAA	0.502000												
GALNT6	11226	broad.mit.edu	37	12	51757930	51757930	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:51757930G>A	uc001ryk.2	-	4	1249	c.1024C>T	c.(1024-1026)Cgc>Tgc	p.R342C	GALNT6_uc009zma.1_Non-coding_Transcript|GALNT6_uc001ryl.1_Missense_Mutation_p.R342C	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) (GALNT6), mRNA.	342					protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TCATCCTTGCGCCTCTGCTTC	0.597000												
CDCA4	55038	broad.mit.edu	37	14	105478028	105478028	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:105478028C>T	uc021sep.1	-	0	239	c.239G>A	c.(238-240)cGc>cAc	p.R80H	CDCA4_uc001yqa.2_Missense_Mutation_p.R80H|CDCA4_uc001yqb.2_Missense_Mutation_p.R80H	NM_145701	NP_663747	Q9BXL8	CDCA4_HUMAN	Homo sapiens cell division cycle associated 4 (CDCA4), transcript variant 2, mRNA.	80						nucleus		p.R80C(1)		endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.142)		TGCCACTGTGCGCCACGTCCC	0.652000												
CACNA2D3	55799	broad.mit.edu	37	3	54922046	54922046	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:54922046C>T	uc003dhf.3	+	23	2165	c.2117C>T	c.(2116-2118)gCg>gTg	p.A706V	CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Missense_Mutation_p.A612V|CACNA2D3_uc003dhh.1_Non-coding_Transcript|AK092143_uc003dhk.1_Intron	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	706						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		CCCATTGAAGCGTATTGGACC	0.502000												
GHDC	84514	broad.mit.edu	37	17	40344954	40344954	+	Silent	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:40344954T>C	uc002hzd.3	-	2	841	c.357A>G	c.(355-357)tcA>tcG	p.S119S	GHDC_uc002hzg.2_Silent_p.S119S|GHDC_uc010wgg.2_Intron|GHDC_uc002hze.4_Silent_p.S119S|GHDC_uc002hzf.4_Silent_p.S119S|GHDC_uc010cxz.2_Non-coding_Transcript	NM_032484	NP_115873	Q8N2G8	GHDC_HUMAN	Homo sapiens GH3 domain containing (GHDC), transcript variant 1, mRNA.	119						endoplasmic reticulum|nuclear envelope				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		GGTCCTGGTTTGAGGTCGGGG	0.607000												
BBS10	79738	broad.mit.edu	37	12	76740999	76740999	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:76740999G>A	uc001syd.1	-	1	850	c.766C>T	c.(766-768)Cga>Tga	p.R256*		NM_024685	NP_078961	Q8TAM1	BBS10_HUMAN	Homo sapiens Bardet-Biedl syndrome 10 (BBS10), mRNA.	256					cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						ATCACCATTCGCATGTCACCA	0.423000									Bardet-Biedl syndrome			
VTI1B	10490	broad.mit.edu	37	14	68123210	68123210	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:68123210C>A	uc001xjt.3	-	3	859	c.463G>T	c.(463-465)Gag>Tag	p.E155*	VTI1B_uc010aqp.3_Nonsense_Mutation_p.E94*|VTI1B_uc001xju.3_Nonsense_Mutation_p.E114*	NM_006370	NP_006361	Q9UEU0	VTI1B_HUMAN	Homo sapiens vesicle transport through interaction with t-SNAREs homolog 1B (yeast) (VTI1B), mRNA.	155					cell proliferation|cellular membrane fusion|intracellular protein transport|vesicle docking involved in exocytosis	endomembrane system|integral to membrane				endometrium(1)|large_intestine(2)|stomach(1)|upper_aerodigestive_tract(1)	5				all cancers(60;0.000344)|OV - Ovarian serous cystadenocarcinoma(108;0.00212)|BRCA - Breast invasive adenocarcinoma(234;0.00941)		TGGTCAGTCTCTGTGGCAATC	0.502000												
CLSTN3	9746	broad.mit.edu	37	12	7288865	7288865	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:7288865G>A	uc001qss.3	+	4	1380	c.842G>A	c.(841-843)cGc>cAc	p.R281H	CLSTN3_uc001qsr.3_Missense_Mutation_p.R269H	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	Homo sapiens calsyntenin 3 (CLSTN3), mRNA.	269					homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						CCTGGTATCCGCCTGGAGACC	0.557000												
HAUS6	54801	broad.mit.edu	37	9	19058813	19058813	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:19058813G>A	uc003znk.3	-	15	2205	c.1952C>T	c.(1951-1953)tCt>tTt	p.S651F	HAUS6_uc011lmz.2_Missense_Mutation_p.S371F|HAUS6_uc022bdv.1_Missense_Mutation_p.S515F|HAUS6_uc003znl.1_Missense_Mutation_p.S515F	NM_017645	NP_060115	Q7Z4H7	HAUS6_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 6 (HAUS6), mRNA.	651					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|microtubule|nucleus|spindle				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AGTCAAATGAGACTGGCCAAA	0.398000												
CHM	1121	broad.mit.edu	37	X	85149202	85149202	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:85149202T>C	uc004eet.3	-	11	1531	c.1501A>G	c.(1501-1503)Aaa>Gaa	p.K501E	CHM_uc011mqz.2_Missense_Mutation_p.K353E	NM_000390	NP_000381	P24386	RAE1_HUMAN	Homo sapiens choroideremia (Rab escort protein 1) (CHM), transcript variant 1, mRNA.	501					intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				CAGGTGCCTTTCATGCATGTC	0.398000												
FTMT	94033	broad.mit.edu	37	5	121188112	121188112	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:121188112G>A	uc003kss.3	+	0	463	c.454G>A	c.(454-456)Gac>Aac	p.D152N		NM_177478	NP_803431	Q8N4E7	FTMT_HUMAN	Homo sapiens ferritin mitochondrial (FTMT), nuclear gene encoding mitochondrial protein, mRNA.	152	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity	p.D151D(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		GGAACAGGACGACTGGGAAAG	0.587000												
SGK196	84197	broad.mit.edu	37	8	42958728	42958728	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:42958728G>A	uc003xpw.2	+	3	296	c.37G>A	c.(37-39)Gcc>Acc	p.A13T		NM_032237	NP_115613	Q9H5K3	SG196_HUMAN	Homo sapiens protein kinase-like protein SgK196 (SGK196), mRNA.	13						integral to membrane	ATP binding|protein kinase activity										GAGAGGCCTCGCCCCCCGAGA	0.542000												
ZFYVE20	64145	broad.mit.edu	37	3	15123940	15123940	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:15123940C>T	uc003bzm.1	-	8	1388	c.774G>A	c.(772-774)acG>acA	p.T258T	ZFYVE20_uc010hek.1_Silent_p.T258T|ZFYVE20_uc011avn.1_Intron	NM_022340	NP_071735	Q9H1K0	RBNS5_HUMAN	Homo sapiens zinc finger, FYVE domain containing 20 (ZFYVE20), mRNA.	258	Necessary for the correct targeting to endosomes.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						TCTTGAGCAGCGTGTCCTTGC	0.562000												
SNX29	92017	broad.mit.edu	37	16	12618607	12618607	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:12618607C>T	uc002dby.4	+	19	2289	c.1072C>T	c.(1072-1074)Cgc>Tgc	p.R358C		NM_032167	NP_115543	Q8TEQ0	SNX29_HUMAN	Homo sapiens sorting nexin 29 (SNX29), mRNA.	358	PX.				cell communication		phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						GAATTACCTGCGCAGCGTCAT	0.522000												
RAB3C	115827	broad.mit.edu	37	5	58120962	58120962	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:58120962C>T	uc003jrp.3	+	3	566	c.469C>T	c.(469-471)Cga>Tga	p.R157*		NM_138453	NP_612462	Q96E17	RAB3C_HUMAN	Homo sapiens RAB3C, member RAS oncogene family (RAB3C), mRNA.	157					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)	21		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)		CTCAACTGAGCGAGGTCAACA	0.388000												
CPS1	1373	broad.mit.edu	37	2	211507258	211507258	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:211507258C>T	uc010fur.3	+	25	3110	c.3028C>T	c.(3028-3030)Cgt>Tgt	p.R1010C	CPS1_uc002vee.4_Missense_Mutation_p.R1004C|CPS1_uc010fus.3_Missense_Mutation_p.R553C	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	1004					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		CCGCACACTGCGTCAACTTGG	0.463000												
F8	2157	broad.mit.edu	37	X	154159120	154159120	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:154159120T>C	uc004fmt.3	-	13	3116	c.2945A>G	c.(2944-2946)aAt>aGt	p.N982S		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	982	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TGACGATACATTTTTTCCCCA	0.373000												
UBP1	7342	broad.mit.edu	37	3	33453092	33453092	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:33453092C>T	uc003cfq.4	-	4	1066	c.536G>A	c.(535-537)cGc>cAc	p.R179H	UBP1_uc003cfr.4_Missense_Mutation_p.R179H|UBP1_uc010hga.3_Missense_Mutation_p.R179H	NM_014517	NP_055332	Q9NZI7	UBIP1_HUMAN	Homo sapiens upstream binding protein 1 (LBP-1a) (UBP1), transcript variant 1, mRNA.	179					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						AGCAGAGGTGCGTTTTGCTGG	0.358000												
MLLT4	4301	broad.mit.edu	37	6	168352728	168352728	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:168352728G>A	uc021zik.1	+	28	4869	c.4550G>A	c.(4549-4551)cGc>cAc	p.R1517H	MLLT4_uc003qwb.1_Missense_Mutation_p.R1542H|MLLT4_uc003qwc.2_Missense_Mutation_p.R1558H|MLLT4_uc021zij.1_Missense_Mutation_p.R1541H|MLLT4_uc021zim.1_Missense_Mutation_p.R1104H|MLLT4_uc003qwg.1_Missense_Mutation_p.R867H	NM_001040000	NP_001035089	P55196	AFAD_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (MLLT4), transcript variant 2, mRNA.	1558					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		GACCGGCTGCGCAAGCTCATG	0.592000			T	MLL	AL							
ABCA6	23460	broad.mit.edu	37	17	67102220	67102220	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:67102220G>A	uc002jhw.1	-	18	2697	c.2522C>T	c.(2521-2523)gCa>gTa	p.A841V		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	841					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ACGGAGCCGTGCCATGGCAAA	0.438000												
ADCY4	196883	broad.mit.edu	37	14	24791279	24791279	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:24791279C>T	uc001wow.3	-	19	2998	c.2579G>A	c.(2578-2580)cGc>cAc	p.R860H	ADCY4_uc010toh.2_Missense_Mutation_p.R546H|ADCY4_uc001wox.3_Missense_Mutation_p.R860H|ADCY4_uc001woy.3_Missense_Mutation_p.R860H	NM_001198568	NP_001185497	Q8NFM4	ADCY4_HUMAN	Homo sapiens adenylate cyclase 4 (ADCY4), transcript variant 3, mRNA.	860					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding|protein binding	p.R859W(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		CACCTCGTTGCGCCGGTTCTG	0.582000												
PRL	5617	broad.mit.edu	37	6	22294697	22294697	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:22294697G>A	uc003ndp.3	-	1	664	c.145C>T	c.(145-147)Cgc>Tgc	p.R49C	PRL_uc003ndo.3_Missense_Mutation_p.R50C|PRL_uc003ndq.3_Missense_Mutation_p.R49C|PRL_uc003ndr.1_Non-coding_Transcript	NM_000948	NP_001157030	P01236	PRL_HUMAN	Homo sapiens prolactin (PRL), transcript variant 1, mRNA.	49					cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding			NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					ACGACGGCGCGGTCAAACAGG	0.597000												
BTBD1	53339	broad.mit.edu	37	15	83698894	83698894	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:83698894C>G	uc002bjn.3	-	4	1252	c.1049G>C	c.(1048-1050)cGa>cCa	p.R350P	BTBD1_uc002bjo.3_Missense_Mutation_p.R350P	NM_025238	NP_079514	Q9H0C5	BTBD1_HUMAN	Homo sapiens BTB (POZ) domain containing 1 (BTBD1), transcript variant 1, mRNA.	350						cytoplasmic mRNA processing body|protein complex	protein binding	p.R350Q(2)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10				all cancers(203;0.000186)		ATACCTGATTCGATCACTCGT	0.448000												
SMC5	23137	broad.mit.edu	37	9	72933542	72933542	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:72933542C>T	uc004ahr.2	+	13	2036	c.1919C>T	c.(1918-1920)gCg>gTg	p.A640V	AX748336_uc004ahs.1_5'Flank	NM_015110	NP_055925	Q8IY18	SMC5_HUMAN	Homo sapiens structural maintenance of chromosomes 5 (SMC5), mRNA.	640	Flexible hinge.				DNA recombination|DNA repair	chromosome|nucleus	ATP binding	p.A640A(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						CTAAAAGTAGCGCAGTTTCTC	0.333000												
ARHGEF37	389337	broad.mit.edu	37	5	148980761	148980761	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:148980761G>T	uc003lra.1	+	2	341	c.277G>T	c.(277-279)Gcc>Tcc	p.A93S		NM_001001669	NP_001001669	A1IGU5	ARH37_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 37 (ARHGEF37), mRNA.	93	DH.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						GCAGGAGACAGCCTCCAAGGA	0.468000												
DYNC1H1	1778	broad.mit.edu	37	14	102453010	102453010	+	Silent	SNP	C	C	T	rs145405293	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:102453010C>T	uc001yks.2	+	7	2612	c.2448C>T	c.(2446-2448)atC>atT	p.I816I		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	816	Stem (By similarity).				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AGGCCCTGATCGCAGAAGGCA	0.512000												
FAM113A	64773	broad.mit.edu	37	20	2818955	2818955	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:2818955C>T	uc002wgz.1	-	5	1261	c.764G>A	c.(763-765)cGc>cAc	p.R255H	FAM113A_uc010zqa.1_Missense_Mutation_p.R102H|FAM113A_uc002whc.1_Missense_Mutation_p.R204H|VPS16_uc002whe.3_5'Flank|VPS16_uc002whf.3_5'Flank	NM_022760	NP_073597	Q9H1Q7	F113A_HUMAN	Homo sapiens family with sequence similarity 113, member A (FAM113A), mRNA.	255	His-rich.						hydrolase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(4)	17						TGAGAGGTGGCGGTGTGCATG	0.617000												
STAG1	10274	broad.mit.edu	37	3	136287655	136287655	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:136287655C>T	uc003era.1	-	4	638	c.346G>A	c.(346-348)Gca>Aca	p.A116T	STAG1_uc003erb.1_Missense_Mutation_p.A116T|STAG1_uc003erc.1_5'UTR|STAG1_uc010hua.1_5'UTR|STAG1_uc003ere.3_Missense_Mutation_p.A116T	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	Homo sapiens stromal antigen 1 (STAG1), mRNA.	116					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding	p.A116T(2)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TCCAGAAGTGCGATGTCCCTG	0.348000												
PTPRC	5788	broad.mit.edu	37	1	198685904	198685904	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:198685904A>C	uc001gur.1	+	12	1559	c.1379A>C	c.(1378-1380)tAc>tCc	p.Y460S	PTPRC_uc001gut.1_Missense_Mutation_p.Y299S|PTPRC_uc009wzf.1_Missense_Mutation_p.Y348S|PTPRC_uc021pgy.1_Missense_Mutation_p.Y414S|PTPRC_uc010ppg.1_Missense_Mutation_p.Y396S	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	460	Fibronectin type-III 1.				B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TTACATGCCTACATCATTGCA	0.313000												
CSF2RA	1438	broad.mit.edu	37	X	1422885	1422885	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:1422885G>A	uc010nct.2	+	11	1338	c.1016G>A	c.(1015-1017)gGc>gAc	p.G339D	CRLF2_uc022brt.1_Intron|CSF2RA_uc011mhb.1_Missense_Mutation_p.G339D|CSF2RA_uc004cpq.2_Intron|CSF2RA_uc004cpn.2_Missense_Mutation_p.G339D|CSF2RA_uc004cpo.2_Missense_Mutation_p.G339D|CSF2RA_uc010ncu.2_Non-coding_Transcript|CSF2RA_uc011mhc.1_Missense_Mutation_p.G206D|CSF2RA_uc004cpp.2_Intron|CSF2RA_uc010ncv.2_Missense_Mutation_p.G373D|CSF2RA_uc004cpr.2_Intron	NM_001161529	NP_001155004	P15509	CSF2R_HUMAN	Homo sapiens colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) (CSF2RA), transcript variant 7, mRNA.	339						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CTTGTCTGTGGCATCGTCCTC	0.547000												
MOCOS	55034	broad.mit.edu	37	18	33846728	33846728	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:33846728A>G	uc002kzq.4	+	13	2449	c.2426A>G	c.(2425-2427)cAc>cGc	p.H809R		NM_017947	NP_060417	Q96EN8	MOCOS_HUMAN	Homo sapiens molybdenum cofactor sulfurase (MOCOS), mRNA.	809	MOSC.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	Mo-molybdopterin cofactor sulfurase activity|lyase activity|molybdenum ion binding|pyridoxal phosphate binding	p.C808C(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43					Pyridoxal Phosphate(DB00114)	GGGCCTTGTCACAGATGCCAG	0.483000												
TNIK	23043	broad.mit.edu	37	3	170805172	170805172	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:170805172G>A	uc003fhh.2	-	23	3190	c.2845C>T	c.(2845-2847)Cgc>Tgc	p.R949C	TNIK_uc003fhi.2_Missense_Mutation_p.R894C|TNIK_uc003fhj.2_Missense_Mutation_p.R920C|TNIK_uc003fhk.2_Missense_Mutation_p.R941C|TNIK_uc003fhl.2_Missense_Mutation_p.R865C|TNIK_uc003fhm.2_Missense_Mutation_p.R886C|TNIK_uc003fhn.2_Missense_Mutation_p.R912C|TNIK_uc003fho.2_Missense_Mutation_p.R857C|TNIK_uc003fhg.2_Missense_Mutation_p.R127C	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	Homo sapiens TRAF2 and NCK interacting kinase (TNIK), transcript variant 1, mRNA.	949	Mediates interaction with NEDD4.				Wnt receptor signaling pathway|actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			GTTGAGACGCGCCCCAGTCCC	0.577000												
NEIL3	55247	broad.mit.edu	37	4	178283618	178283618	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:178283618G>A	uc003iut.2	+	9	1928	c.1811G>A	c.(1810-1812)gGa>gAa	p.G604E		NM_018248	NP_060718	Q8TAT5	NEIL3_HUMAN	Homo sapiens nei endonuclease VIII-like 3 (E. coli) (NEIL3), mRNA.	604					base-excision repair|nucleotide-excision repair	nucleus	DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|bubble DNA binding|damaged DNA binding|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		ATTATTCCTGGATGCTAATAT	0.348000								Base excision repair (BER), DNA glycosylases				
NID2	22795	broad.mit.edu	37	14	52477679	52477679	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:52477679C>T	uc001wzo.3	-	17	3871	c.3637G>A	c.(3637-3639)Gcc>Acc	p.A1213T	NID2_uc010tqs.2_Missense_Mutation_p.A1165T|NID2_uc010tqt.1_Missense_Mutation_p.A1213T	NM_007361	NP_031387	Q14112	NID2_HUMAN	Homo sapiens nidogen 2 (osteonidogen) (NID2), mRNA.	1213						basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					TCCAGCAGGGCGCTCTCTATC	0.542000												
DBF4	10926	broad.mit.edu	37	7	87533646	87533646	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:87533646A>G	uc003ujf.1	+	10	1468	c.964A>G	c.(964-966)Aac>Gac	p.N322D	DBF4_uc003ujh.1_Missense_Mutation_p.N62D|DBF4_uc003ujg.1_Missense_Mutation_p.N98D|DBF4_uc011khf.1_Missense_Mutation_p.N89D	NM_006716	NP_006707	Q9UBU7	DBF4A_HUMAN	Homo sapiens DBF4 homolog (S. cerevisiae) (DBF4), mRNA.	322					DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|cell cycle checkpoint	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				TGCACAGAGTAACCAGTATCA	0.289000												
FARP1	10160	broad.mit.edu	37	13	99042215	99042215	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:99042215C>T	uc001vnh.3	+	9	1099	c.860C>T	c.(859-861)gCg>gTg	p.A287V	FARP1_uc001vnj.3_Missense_Mutation_p.A287V	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	Homo sapiens FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) (FARP1), transcript variant 1, mRNA.	287	FERM.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	Rho guanyl-nucleotide exchange factor activity|cytoskeletal protein binding			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TTTTAGAGTGCGTACCAGGAT	0.413000												
KIAA1324L	222223	broad.mit.edu	37	7	86542475	86542475	+	Missense_Mutation	SNP	C	C	T	rs140423520	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:86542475C>T	uc011kha.2	-	13	1962	c.1777G>A	c.(1777-1779)Gcc>Acc	p.A593T	KIAA1324L_uc003uie.3_Missense_Mutation_p.A426T|KIAA1324L_uc011kgz.2_Missense_Mutation_p.A479T|KIAA1324L_uc003uif.2_Missense_Mutation_p.A345T	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	Homo sapiens KIAA1324-like (KIAA1324L), transcript variant 1, mRNA.	593						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					GCATTAGTGGCTGTGATAGAA	0.488000												
CD1D	912	broad.mit.edu	37	1	158151348	158151348	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:158151348G>A	uc001frr.3	+	2	664	c.165G>A	c.(163-165)acG>acA	p.T55T	CD1D_uc009wsr.1_Silent_p.T55T|CD1D_uc009wss.3_Silent_p.T55T|CD1D_uc009wst.1_5'UTR	NM_001766	NP_001757	P15813	CD1D_HUMAN	Homo sapiens CD1d molecule (CD1D), mRNA.	55					T cell selection|antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding	p.T55M(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					AGCTGCAGACGCACAGCTGGA	0.632000												
DOHH	83475	broad.mit.edu	37	19	3496805	3496805	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:3496805G>A	uc002lxs.3	-	1	171	c.8C>T	c.(7-9)aCg>aTg	p.T3M	DOHH_uc010xhl.2_Missense_Mutation_p.T3M	NM_031304	NP_112594	Q9BU89	DOHH_HUMAN	Homo sapiens deoxyhypusine hydroxylase/monooxygenase (DOHH), transcript variant 2, mRNA.	3					peptidyl-lysine modification to hypusine|post-translational protein modification	cytosol	deoxyhypusine monooxygenase activity|metal ion binding|protein binding			central_nervous_system(1)|large_intestine(1)|lung(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCTGCTCCGTCACCATCGT	0.652000												
SYNE2	23224	broad.mit.edu	37	14	64447796	64447796	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:64447796C>G	uc001xgl.3	+	15	1971	c.1741C>G	c.(1741-1743)Cta>Gta	p.L581V	SYNE2_uc001xgm.3_Missense_Mutation_p.L581V|SYNE2_uc021ruh.1_Missense_Mutation_p.L581V	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	581					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GAAGTCCACTCTACAAAAAGT	0.338000												
MYO15A	51168	broad.mit.edu	37	17	18039937	18039937	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:18039937C>T	uc021trm.1	+	13	4935	c.4716C>T	c.(4714-4716)aaC>aaT	p.N1572N	MYO15A_uc021trl.1_Silent_p.N1570N	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	1572	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin 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)					CCAGGGTCAACGCGCTGGTGT	0.617000												
TRIM9	114088	broad.mit.edu	37	14	51561103	51561103	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:51561103G>A	uc001wyx.4	-	0	1320	c.555C>T	c.(553-555)tgC>tgT	p.C185C	TRIM9_uc001wyy.2_Silent_p.C185C|TRIM9_uc001wyz.4_Silent_p.C185C	NM_015163	NP_055978	Q9C026	TRIM9_HUMAN	Homo sapiens tripartite motif containing 9 (TRIM9), transcript variant 1, mRNA.	185					proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					AGAAGACATCGCACTGTTCGC	0.677000												
BMP7	655	broad.mit.edu	37	20	55777649	55777649	+	Silent	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:55777649A>G	uc010gip.1	-	2	1171	c.642T>C	c.(640-642)cgT>cgC	p.R214R	BMP7_uc002xyc.3_Silent_p.R214R	NM_001719	NP_001710	P18075	BMP7_HUMAN	Homo sapiens bone morphogenetic protein 7 (BMP7), mRNA.	214					BMP signaling pathway|SMAD protein signal transduction|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of MAP kinase activity|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of glomerular mesangial cell proliferation|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			CCCAGAGGGTACGGCTGTCGA	0.622000												
DOCK8	81704	broad.mit.edu	37	9	418150	418150	+	Silent	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:418150G>T	uc003zgf.2	+	29	3895	c.3783G>T	c.(3781-3783)ctG>ctT	p.L1261L	DOCK8_uc022bcu.1_Silent_p.L1193L|DOCK8_uc010mgv.3_Silent_p.L1161L|DOCK8_uc010mgu.3_Silent_p.L563L|DOCK8_uc003zgk.2_Silent_p.L719L	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN	Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.	1261					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)		ATGTGGCTCTGGCCATAGCAG	0.443000												
KLKB1	3818	broad.mit.edu	37	4	187172953	187172953	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:187172953C>T	uc003iyy.3	+	9	1153	c.1082C>T	c.(1081-1083)gCg>gTg	p.A361V	KLKB1_uc011clc.2_Missense_Mutation_p.A159V|KLKB1_uc011cld.2_Missense_Mutation_p.A323V	NM_000892	NP_000883	P03952	KLKB1_HUMAN	Homo sapiens kallikrein B, plasma (Fletcher factor) 1 (KLKB1), mRNA.	361	Apple 4.				Factor XII activation|blood coagulation, intrinsic pathway|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		ACTAGGATTGCGTATGGGACA	0.443000												
DNAH11	8701	broad.mit.edu	37	7	21631027	21631027	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:21631027C>T	uc003svc.3	+	13	2530	c.2499C>T	c.(2497-2499)aaC>aaT	p.N833N		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	833	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CACAGAAAAACGTGAAGGTGA	0.602000									Kartagener syndrome			
USP21	27005	broad.mit.edu	37	1	161130563	161130563	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:161130563C>T	uc010pkc.2	+	2	510	c.133C>T	c.(133-135)Cca>Tca	p.P45S	USP21_uc010pkd.2_Missense_Mutation_p.P45S	NM_001014443	NP_036607	Q9UK80	UBP21_HUMAN	Homo sapiens ubiquitin specific peptidase 21 (USP21), transcript variant 3, mRNA.	45					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	NEDD8-specific protease activity|metal ion binding|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			AGCCTCTGGGCCAAACCCCAT	0.632000												
LATS2	26524	broad.mit.edu	37	13	21555688	21555688	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:21555688G>A	uc009zzs.3	-	5	2947	c.2582C>T	c.(2581-2583)gCg>gTg	p.A861V	LATS2_uc001unr.4_Missense_Mutation_p.A861V	NM_014572	NP_055387	Q9NRM7	LATS2_HUMAN	Homo sapiens LATS, large tumor suppressor, homolog 2 (Drosophila) (LATS2), mRNA.	861	Protein kinase.				G1/S transition of mitotic cell cycle|cell division|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		CTGCTTCCGCGCCCTCTGCTC	0.612000												
NKD1	85407	broad.mit.edu	37	16	50659407	50659407	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:50659407C>T	uc002egg.2	+	5	602	c.378C>T	c.(376-378)tgC>tgT	p.C126C		NM_033119	NP_149110	Q969G9	NKD1_HUMAN	Homo sapiens naked cuticle homolog 1 (Drosophila) (NKD1), mRNA.	126	Interaction with DVL1, DVL2 and DVL3 (By similarity).				Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		AGCTCCAGTGCGACGTGTCCA	0.612000												
RALGAPB	57148	broad.mit.edu	37	20	37168459	37168459	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:37168459T>A	uc002xiw.3	+	16	2677	c.2420T>A	c.(2419-2421)aTc>aAc	p.I807N	RALGAPB_uc002xix.3_Missense_Mutation_p.I803N|RALGAPB_uc002xiy.1_Missense_Mutation_p.I807N|RALGAPB_uc002xiz.3_Missense_Mutation_p.I585N|RALGAPB_uc002xja.1_Missense_Mutation_p.I534N	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN	Homo sapiens Ral GTPase activating protein, beta subunit (non-catalytic) (RALGAPB), mRNA.	807					activation of Ral GTPase activity	intracellular	Ral GTPase activator activity|protein heterodimerization activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						AAGCGAGCCATCAGTTCTGTG	0.453000												
PKN1	5585	broad.mit.edu	37	19	14554393	14554393	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:14554393C>T	uc002myp.3	+	2	602	c.434C>T	c.(433-435)gCg>gTg	p.A145V	PKN1_uc002myq.3_Missense_Mutation_p.A151V	NM_002741	NP_002732	Q16512	PKN1_HUMAN	Homo sapiens protein kinase N1 (PKN1), transcript variant 2, mRNA.	145					activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	ATP binding|GTP-Rho binding|Rac GTPase binding|androgen receptor binding|chromatin binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						AAGCAGGGGGCGGAGAACATG	0.622000												
FADS1	3992	broad.mit.edu	37	11	61580742	61580742	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:61580742C>G	uc010rlm.2	-	1	587	c.459G>C	c.(457-459)gaG>gaC	p.E153D	FADS2_uc001nsj.2_5'Flank|FADS1_uc001nsh.3_Missense_Mutation_p.E12D|FADS1_uc010rln.1_Missense_Mutation_p.E12D	NM_013402	NP_037534	O60427	FADS1_HUMAN	Homo sapiens fatty acid desaturase 1 (FADS1), mRNA.	96					cell-cell signaling|cellular response to starvation|electron transport chain|icosanoid biosynthetic process|phospholipid biosynthetic process|regulation of cell differentiation|regulation of transcription, DNA-dependent|transport	endoplasmic reticulum membrane|integral to membrane|microsome	C-5 sterol desaturase activity|heme binding|protein binding			central_nervous_system(1)|endometrium(1)|lung(1)|urinary_tract(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	AGCTGGGCTGCTCTGGAGACA	0.517000												
ANKS1A	23294	broad.mit.edu	37	6	35053698	35053698	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:35053698C>T	uc003ojx.4	+	21	3430	c.3288C>T	c.(3286-3288)ggC>ggT	p.G1096G	ANKS1A_uc011dst.2_Silent_p.G637G|ANKS1A_uc010jvp.2_Silent_p.G470G	NM_015245	NP_056060	Q92625	ANS1A_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1A (ANKS1A), mRNA.	1096						cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						CTCGGGTCGGCGTGAGGAAAT	0.622000												
PI4KB	5298	broad.mit.edu	37	1	151276023	151276023	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:151276023T>C	uc001exr.3	-	6	2189	c.1550A>G	c.(1549-1551)gAc>gGc	p.D517G	PI4KB_uc001exs.3_Missense_Mutation_p.D490G|PI4KB_uc001exu.3_Missense_Mutation_p.D490G|PI4KB_uc010pcw.2_Missense_Mutation_p.D173G|PI4KB_uc001ext.3_Missense_Mutation_p.D505G|Metazoa_SRP_uc021oyp.1_5'Flank	NM_002651	NP_001185704	Q9UBF8	PI4KB_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, beta (PI4KB), transcript variant 1, mRNA.	505					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	Golgi apparatus|endosome|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ATACCGGATGTCCCCTGCTGC	0.507000												
RILPL2	196383	broad.mit.edu	37	12	123915117	123915117	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:123915117C>T	uc001uey.1	-	1	726	c.429G>A	c.(427-429)caG>caA	p.Q143Q		NM_145058	NP_659495	Q969X0	RIPL2_HUMAN	Homo sapiens Rab interacting lysosomal protein-like 2 (RILPL2), mRNA.	143	RILP-like.					cytosol|plasma membrane	identical protein binding			endometrium(1)|large_intestine(2)|lung(2)|skin(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000546)|Epithelial(86;0.00179)|all cancers(50;0.0168)		TGTTGCGTTCCTGCAGCACAT	0.572000												
ADCY1	107	broad.mit.edu	37	7	45717589	45717589	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:45717589G>A	uc003tne.4	+	8	1745	c.1727G>A	c.(1726-1728)cGc>cAc	p.R576H		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	576					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	TTAGAAGCCCGCCAGACAGAG	0.517000												
NOL4	8715	broad.mit.edu	37	18	31709979	31709979	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:31709979G>A	uc010dmi.3	-	1	568	c.270C>T	c.(268-270)ggC>ggT	p.G90G	NOL4_uc002kxr.4_5'UTR|NOL4_uc010xbt.2_Silent_p.G16G|NOL4_uc010dmh.3_Silent_p.G16G|NOL4_uc010xbu.2_Silent_p.G90G|NOL4_uc002kxt.4_Silent_p.G90G	NM_003787	NP_001185478	O94818	NOL4_HUMAN	Homo sapiens nucleolar protein 4 (NOL4), transcript variant 1, mRNA.	90						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						CTACCCCTACGCCATCCTGGA	0.348000												
TRANK1	9881	broad.mit.edu	37	3	36897695	36897695	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:36897695C>T	uc003cgj.3	-	11	3634	c.3386G>A	c.(3385-3387)gGc>gAc	p.G1129D		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1129					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TGCAGCTTGGCCGTCCCCTGC	0.517000												
AP2M1	1173	broad.mit.edu	37	3	183900553	183900553	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:183900553G>A	uc021xig.1	+	9	1113	c.1070G>A	c.(1069-1071)cGc>cAc	p.R357H	AP2M1_uc003fmw.3_Missense_Mutation_p.R355H|AP2M1_uc021xif.1_Missense_Mutation_p.R173H|AP2M1_uc011bqy.2_Missense_Mutation_p.R227H|AP2M1_uc011bqz.2_Missense_Mutation_p.R173H	NM_004068	NP_004059	Q96CW1	AP2M1_HUMAN	Homo sapiens adaptor-related protein complex 2, mu 1 subunit (AP2M1), transcript variant 1, mRNA.	357	MHD.				axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane	lipid binding|protein binding|transporter activity			endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGGATCAAGCGCATGGCAGGC	0.542000												
TYK2	7297	broad.mit.edu	37	19	10476334	10476334	+	Silent	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:10476334G>T	uc002moc.4	-	6	1248	c.870C>A	c.(868-870)ccC>ccA	p.P290P	TYK2_uc010dxe.3_Silent_p.P105P|TYK2_uc002mod.2_Silent_p.P290P	NM_003331	NP_003322	P29597	TYK2_HUMAN	Homo sapiens tyrosine kinase 2 (TYK2), mRNA.	290	FERM.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			GGATGTAGCAGGGCTCCCCCT	0.682000												
MMEL1	79258	broad.mit.edu	37	1	2527522	2527522	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:2527522G>A	uc001ajy.2	-	14	1640	c.1426C>T	c.(1426-1428)Cgg>Tgg	p.R476W	MMEL1_uc009vlg.1_Non-coding_Transcript	NM_033467	NP_258428	Q495T6	MMEL1_HUMAN	Homo sapiens membrane metallo-endopeptidase-like 1 (MMEL1), mRNA.	476					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		AACACTGTCCGCACCTTGTCA	0.597000												
C12orf51	283450	broad.mit.edu	37	12	112657288	112657288	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:112657288G>A	uc021reb.1	-	44	6970	c.6574C>T	c.(6574-6576)Cga>Tga	p.R2192*	C12orf51_uc001ttr.1_Nonsense_Mutation_p.R79*	NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						ACTGCAAGTCGCTCTCCTGTA	0.532000												
RDX	5962	broad.mit.edu	37	11	110102620	110102620	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:110102620G>A	uc009yxy.3	-	13	2036	c.1726C>T	c.(1726-1728)Cgt>Tgt	p.R576C	RDX_uc009yxx.1_Non-coding_Transcript|RDX_uc009yxz.3_Missense_Mutation_p.R229C|RDX_uc009yya.3_Missense_Mutation_p.R172C|RDX_uc001pks.3_Missense_Mutation_p.R110C|RDX_uc001pkt.3_Missense_Mutation_p.R230C|RDX_uc001pku.3_Missense_Mutation_p.R576C|RDX_uc010rwe.2_Missense_Mutation_p.R440C	NM_002906	NP_002897	P35241	RADI_HUMAN	Homo sapiens radixin (RDX), mRNA.	576					actin filament capping	Golgi apparatus|cleavage furrow|cytoskeleton|extrinsic to membrane|nucleolus|plasma membrane	actin binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		TCATCGATACGCTGCTTTGTA	0.403000												
ANKAR	150709	broad.mit.edu	37	2	190593148	190593148	+	Splice_Site	SNP	T	T	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:190593148T>A	uc002uqw.2	+	14	3119	c.3031_splice	c.e14+2	p.G1011_splice	ANKAR_uc002uqu.3_Splice_Site|ANKAR_uc002uqx.2_Splice_Site|ANKAR_uc002uqy.2_Splice_Site_p.G107_splice	NM_144708	NP_653309	Q7Z5J8	ANKAR_HUMAN	Homo sapiens ankyrin and armadillo repeat containing (ANKAR), mRNA.	1011						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			AGTATGTTGGTAAGTTATTTT	0.353000												
XYLT2	64132	broad.mit.edu	37	17	48433538	48433538	+	Silent	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:48433538C>A	uc002iqo.3	+	6	1507	c.1398C>A	c.(1396-1398)ggC>ggA	p.G466G	XYLT2_uc010dbo.3_Non-coding_Transcript	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN	Homo sapiens xylosyltransferase II (XYLT2), mRNA.	466					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					GCAAGCTGGGCTGCAAGTGCC	0.612000												
C20orf26	26074	broad.mit.edu	37	20	20269550	20269550	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:20269550A>G	uc002wru.3	+	22	3208	c.3094A>G	c.(3094-3096)Atc>Gtc	p.I1032V	C20orf26_uc002wrw.3_Intron	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA.	1032										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		TGACCGGCTCATCCCCATGTA	0.507000												
HNRNPUL1	11100	broad.mit.edu	37	19	41810156	41810156	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:41810156G>A	uc002oqb.4	+	12	2541	c.2252G>A	c.(2251-2253)aGc>aAc	p.S751N	HNRNPUL1_uc002opz.4_Missense_Mutation_p.S651N|HNRNPUL1_uc002oqa.4_Missense_Mutation_p.S651N|HNRNPUL1_uc010ehm.3_Missense_Mutation_p.S751N|HNRNPUL1_uc002oqc.4_Missense_Mutation_p.S637N|HNRNPUL1_uc002oqe.4_Intron|HNRNPUL1_uc002oqd.4_Missense_Mutation_p.S651N|HNRNPUL1_uc010ehn.3_Missense_Mutation_p.S651N|HNRNPUL1_uc010xvy.2_Missense_Mutation_p.S651N|HNRNPUL1_uc010ehp.3_Missense_Mutation_p.S607N|HNRNPUL1_uc002oqf.4_Missense_Mutation_p.S275N	NM_007040	NP_653333	Q9BUJ2	HNRL1_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein U-like 1 (HNRNPUL1), transcript variant 1, mRNA.	751	Necessary for interaction with TP53.|Pro-rich.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						AGCAGCTACAGCCCTCCACAG	0.557000												
TTL	150465	broad.mit.edu	37	2	113243554	113243554	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:113243554G>A	uc002thu.3	+	1	397	c.218G>A	c.(217-219)cGc>cAc	p.R73H		NM_153712	NP_714923	Q8NG68	TTL_HUMAN	Homo sapiens tubulin tyrosine ligase (TTL), mRNA.	73	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			breast(1)|large_intestine(2)|ovary(1)	4		Ovarian(717;0.024)		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)		AAACTGTGTCGCAAAGCTTCT	0.458000			T	ETV6	ALL							
MYBL2	4605	broad.mit.edu	37	20	42311438	42311438	+	Missense_Mutation	SNP	G	G	A	rs149840592		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:42311438G>A	uc002xlb.1	+	3	406	c.191G>A	c.(190-192)cGc>cAc	p.R64H	MYBL2_uc010zwj.1_Missense_Mutation_p.R40H	NM_002466	NP_002457	P10244	MYBB_HUMAN	Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian)-like 2 (MYBL2), mRNA.	64	HTH myb-type 1.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TCCCAGAACCGCACTGACCAG	0.527000												
MYOCD	93649	broad.mit.edu	37	17	12666430	12666430	+	Silent	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:12666430A>G	uc002gno.2	+	13	2729	c.2430A>G	c.(2428-2430)caA>caG	p.Q810Q	MYOCD_uc002gnn.2_Silent_p.Q762Q|MYOCD_uc002gnq.2_Silent_p.Q486Q	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	762					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	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|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)		CATGTCTTCAAAAAGTCCCAA	0.483000												
ANK3	288	broad.mit.edu	37	10	61844960	61844960	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:61844960G>A	uc001jky.3	-	30	4138	c.3800C>T	c.(3799-3801)aCg>aTg	p.T1267M	ANK3_uc001jkw.3_Missense_Mutation_p.T401M|ANK3_uc009xpa.3_Missense_Mutation_p.T401M|ANK3_uc001jkx.3_Missense_Mutation_p.T445M|ANK3_uc010qih.2_Missense_Mutation_p.T1268M|ANK3_uc001jkz.4_Missense_Mutation_p.T1261M|ANK3_uc001jla.1_Missense_Mutation_p.T333M|ANK3_uc001jlb.1_Missense_Mutation_p.T785M|ANK3_uc001jkv.3_5'Flank	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	1267					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTTTATAAACGTCAAAGGAGT	0.403000												
EIF3M	10480	broad.mit.edu	37	11	32615446	32615446	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:32615446G>A	uc001mtu.3	+	5	611	c.568G>A	c.(568-570)Gga>Aga	p.G190R	EIF3M_uc010ref.2_Missense_Mutation_p.G58R	NM_006360	NP_006351	Q7L2H7	EIF3M_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit M (EIF3M), mRNA.	190						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16	Breast(20;0.109)					GGAATTGCTCGGAAGTTACAC	0.388000												
ABT1	29777	broad.mit.edu	37	6	26597319	26597319	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:26597319T>C	uc003nii.3	+	0	149	c.109T>C	c.(109-111)Tgt>Cgt	p.C37R		NM_013375	NP_037507	Q9ULW3	ABT1_HUMAN	Homo sapiens activator of basal transcription 1 (ABT1), mRNA.	37					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleolus	DNA binding|RNA binding|nucleotide binding|protein binding|transcription coactivator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11						AGAAGCGGCCTGTGGCAGCAA	0.612000												
H3F3B	3021	broad.mit.edu	37	1	226253372	226253372	+	Silent	SNP	G	G	A	rs143861201		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:226253372G>A	uc001hpw.3	+	2	272	c.144G>A	c.(142-144)gcG>gcA	p.A48A	H3F3B_uc010pvl.2_Silent_p.A48A|H3F3B_uc021pjv.1_Silent_p.A48A	NM_005324	NP_005315	P84243	H33_HUMAN	Homo sapiens H3 histone, family 3B (H3.3B) (H3F3B), mRNA.	48					blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding			large_intestine(1)|lung(4)|ovary(2)|skin(1)	8	all_cancers(13;1.5e-07)		all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			GTACTGTGGCGCTCCGTGAAA	0.403000												
FILIP1	27145	broad.mit.edu	37	6	76023157	76023157	+	Silent	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:76023157A>G	uc010kbe.3	-	5	2930	c.2400T>C	c.(2398-2400)gaT>gaC	p.D800D	FILIP1_uc003phy.1_Silent_p.D797D|FILIP1_uc003phz.3_Silent_p.D698D|FILIP1_uc003pia.3_Silent_p.D797D|FILIP1_uc003pib.1_Silent_p.D549D	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	797										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TCACAGGAACATCCACCATTC	0.507000												
THSD7A	221981	broad.mit.edu	37	7	11464343	11464343	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:11464343G>A	uc021zzo.1	-	15	3615	c.3363C>T	c.(3361-3363)ggC>ggT	p.G1121G	THSD7A_uc021zzn.1_Silent_p.G1119G	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	1121	TSP type-1 11.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GGGTTTGCACGCCCTCTCCAC	0.483000										HNSCC(18;0.044)		
NSMAF	8439	broad.mit.edu	37	8	59555553	59555553	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:59555553G>A	uc011lee.2	-	1	293	c.232C>T	c.(232-234)Cac>Tac	p.H78Y	NSMAF_uc003xtt.3_Missense_Mutation_p.H47Y	NM_001144772	NP_001138244	Q92636	FAN_HUMAN	Homo sapiens neutral sphingomyelinase (N-SMase) activation associated factor (NSMAF), transcript variant 2, mRNA.	47					ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				CTTTCATGGTGACTGCCCTTG	0.398000												
SLFN5	162394	broad.mit.edu	37	17	33591298	33591298	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:33591298G>A	uc002hjf.4	+	3	1352	c.1235G>A	c.(1234-1236)cGc>cAc	p.R412H	SLFN5_uc010wcg.2_Intron	NM_144975	NP_659412	Q08AF3	SLFN5_HUMAN	Homo sapiens schlafen family member 5 (SLFN5), mRNA.	412					cell differentiation		ATP binding	p.R412H(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		ACAGAAATGCGCCCTTTCTCT	0.403000												
TRIP4	9325	broad.mit.edu	37	15	64701939	64701939	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:64701939G>A	uc002anm.3	+	6	1015	c.955G>A	c.(955-957)Gcc>Acc	p.A319T		NM_016213	NP_057297	Q15650	TRIP4_HUMAN	Homo sapiens thyroid hormone receptor interactor 4 (TRIP4), mRNA.	319					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ligand-dependent nuclear receptor binding|transcription coactivator activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						ACTTCGACACGCCTCTCGACT	0.463000												
ZNF71	58491	broad.mit.edu	37	19	57133474	57133474	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:57133474C>T	uc002qnm.4	+	2	1057	c.819C>T	c.(817-819)ccC>ccT	p.P273P	ZNF71_uc021vcg.1_Silent_p.P273P	NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	Homo sapiens zinc finger protein 71 (ZNF71), mRNA.	273						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P273P(2)		endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		ACGTGTGCCCCGAGTGCGGGC	0.672000												
HORMAD1	84072	broad.mit.edu	37	1	150680815	150680815	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:150680815C>T	uc001evk.2	-	8	582	c.464G>A	c.(463-465)cGc>cAc	p.R155H	HORMAD1_uc001evl.2_Missense_Mutation_p.R148H|HORMAD1_uc001evm.2_Missense_Mutation_p.R75H	NM_032132	NP_115508	Q86X24	HORM1_HUMAN	Homo sapiens HORMA domain containing 1 (HORMAD1), transcript variant 1, mRNA.	155	HORMA.				blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			ATAAATCTTGCGAATGAGGAG	0.328000												
PTGS1	5742	broad.mit.edu	37	9	125140215	125140215	+	Silent	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:125140215C>A	uc004bmg.1	+	2	267	c.132C>A	c.(130-132)ggC>ggA	p.G44G	PTGS1_uc011lys.1_Silent_p.G19G|PTGS1_uc010mwb.1_5'UTR|PTGS1_uc004bmf.1_Silent_p.G44G|PTGS1_uc004bmh.1_5'UTR|PTGS1_uc011lyt.1_5'UTR	NM_000962	NP_000953	P23219	PGH1_HUMAN	Homo sapiens prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) (PTGS1), transcript variant 1, mRNA.	44	EGF-like.				cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	Golgi apparatus|endoplasmic reticulum membrane|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)|gamma-Homolinolenic acid(DB00154)	AGCACCAGGGCATCTGTGTCC	0.607000												
B4GALT2	8704	broad.mit.edu	37	1	44446911	44446911	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:44446911G>A	uc010okl.2	+	1	242	c.166G>A	c.(166-168)Gcc>Acc	p.A56T	B4GALT2_uc001clg.3_Missense_Mutation_p.A27T|B4GALT2_uc001clh.3_5'UTR|B4GALT2_uc001cli.3_Missense_Mutation_p.A27T	NM_030587	NP_085076	O60909	B4GT2_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2 (B4GALT2), transcript variant 1, mRNA.	27					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	N-acetyllactosamine synthase activity|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding			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)	CTTCCTCGTGGCCGTCATCCT	0.667000												
ECE2	9718	broad.mit.edu	37	3	184002835	184002835	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:184002835G>A	uc003fni.4	+	8	1482	c.1444G>A	c.(1444-1446)Gtg>Atg	p.V482M	ECE2_uc011brh.1_Missense_Mutation_p.V335M|ECE2_uc003fnl.4_Missense_Mutation_p.V410M|ECE2_uc003fnm.4_Missense_Mutation_p.V364M|ECE2_uc003fnk.4_Missense_Mutation_p.V335M|ECE2_uc011bri.1_Missense_Mutation_p.V397M|ECE2_uc010hxv.3_Missense_Mutation_p.V126M	NM_014693	NP_055508	O60344	ECE2_HUMAN	Homo sapiens endothelin converting enzyme 2 (ECE2), transcript variant 1, mRNA.	482	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	Golgi membrane|cytoplasmic vesicle membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCCTGTGGTGGTGTATGGGAT	0.542000											OREG0015945	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
UBASH3B	84959	broad.mit.edu	37	11	122650347	122650347	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:122650347C>T	uc001pyi.4	+	3	905	c.545C>T	c.(544-546)gCg>gTg	p.A182V		NM_032873	NP_116262	Q8TF42	UBS3B_HUMAN	Homo sapiens ubiquitin associated and SH3 domain containing B (UBASH3B), mRNA.	182						cytoplasm|nucleus	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		GAAGACAGTGCGGAGGTCCTC	0.562000												
MUC16	94025	broad.mit.edu	37	19	9075638	9075638	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:9075638C>T	uc002mkp.3	-	2	12012	c.11808G>A	c.(11806-11808)gaG>gaA	p.E3936E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3937	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						CTGTGGTGGACTCAGAAGGGG	0.478000												
ZFHX3	463	broad.mit.edu	37	16	72821829	72821829	+	Missense_Mutation	SNP	G	G	A	rs140437495		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:72821829G>A	uc002fck.3	-	9	11019	c.10346C>T	c.(10345-10347)gCg>gTg	p.A3449V	ZFHX3_uc002fcl.3_Missense_Mutation_p.A2535V	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	3449					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GAGGGAGTCCGCACTTTTGCT	0.572000												
DZIP1	22873	broad.mit.edu	37	13	96239899	96239899	+	Silent	SNP	C	C	T	rs111764824		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:96239899C>T	uc001vmk.3	-	19	2964	c.2112G>A	c.(2110-2112)ccG>ccA	p.P704P	DZIP1_uc001vmj.3_Silent_p.P180P|DZIP1_uc001vml.3_Silent_p.P685P	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	Homo sapiens DAZ interacting protein 1 (DZIP1), transcript variant 2, mRNA.	704					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding	p.P685P(1)		endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			TTTGTGGTGGCGGCACAGGAA	0.567000												
SELE	6401	broad.mit.edu	37	1	169697058	169697058	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:169697058G>A	uc001ggm.4	-	8	1447	c.1290C>T	c.(1288-1290)tgC>tgT	p.C430C	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	430	Sushi 5.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					GGACAGCATCGCATCTCACAG	0.502000												
DIP2C	22982	broad.mit.edu	37	10	430000	430000	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:430000G>A	uc001ifp.3	-	15	1933	c.1843C>T	c.(1843-1845)Cga>Tga	p.R615*	DIP2C_uc009xhj.1_Nonsense_Mutation_p.R311*	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog C (Drosophila) (DIP2C), mRNA.	615						nucleus	catalytic activity|transcription factor binding	p.R615*(2)		breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		ATCAGCATTCGCAGAGAGGAG	0.483000												
MYO10	4651	broad.mit.edu	37	5	16673839	16673839	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:16673839G>A	uc003jft.4	-	35	5592	c.5124C>T	c.(5122-5124)ggC>ggT	p.G1708G	MYO10_uc011cnb.2_Silent_p.G337G|MYO10_uc011cnc.2_Silent_p.G587G|MYO10_uc011cnd.2_Silent_p.G1065G|MYO10_uc011cne.2_Silent_p.G1065G|MYO10_uc010itx.3_Silent_p.G1330G	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	Homo sapiens myosin X (MYO10), mRNA.	1708	FERM.				axon guidance|signal transduction	myosin complex	ATP binding|actin binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						AGGAGCCGCCGCCATGGCAAT	0.527000												
SMURF2	64750	broad.mit.edu	37	17	62574630	62574630	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:62574630C>T	uc002jep.1	-	8	1225	c.837G>A	c.(835-837)tgG>tgA	p.W279*	SMURF2_uc002jeq.1_Nonsense_Mutation_p.W38*|SMURF2_uc002jer.1_Nonsense_Mutation_p.W38*	NM_022739	NP_073576	Q9HAU4	SMUF2_HUMAN	Homo sapiens SMAD specific E3 ubiquitin protein ligase 2 (SMURF2), mRNA.	279	WW 2.				BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	SMAD binding|identical protein binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			TTGGATCATGCCATGTGCTCA	0.368000												
CSNK1G3	1456	broad.mit.edu	37	5	122950080	122950080	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:122950080G>A	uc003ktm.3	+	12	2053	c.1334G>A	c.(1333-1335)cGc>cAc	p.R445H	CSNK1G3_uc003ktl.3_Missense_Mutation_p.R453H|CSNK1G3_uc003ktn.3_Missense_Mutation_p.R421H|CSNK1G3_uc003kto.3_Missense_Mutation_p.R413H|CSNK1G3_uc011cwr.2_Missense_Mutation_p.R346H|CSNK1G3_uc011cws.2_Missense_Mutation_p.R309H|CSNK1G3_uc010jda.3_Missense_Mutation_p.R422H	NM_004384	NP_004375	Q9Y6M4	KC1G3_HUMAN	Homo sapiens casein kinase 1, gamma 3 (CSNK1G3), transcript variant 1, mRNA.	445					Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		ACCATACAGCGCCACAAATGA	0.383000												
TPP2	7174	broad.mit.edu	37	13	103286332	103286332	+	Missense_Mutation	SNP	C	C	T	rs2230855		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:103286332C>T	uc001vpi.4	+	10	1380	c.1277C>T	c.(1276-1278)gCg>gTg	p.A426V		NM_003291	NP_003282	P29144	TPP2_HUMAN	Homo sapiens tripeptidyl peptidase II (TPP2), mRNA.	426					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity	p.A426V(2)		breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGTATCAGTGCGCCAGGAGGA	0.483000												
MPHOSPH9	10198	broad.mit.edu	37	12	123648504	123648504	+	Silent	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:123648504A>G	uc001uel.3	-	14	2553	c.2445T>C	c.(2443-2445)agT>agC	p.S815S	MPHOSPH9_uc010tal.2_Silent_p.S269S|MPHOSPH9_uc010tam.2_Non-coding_Transcript|MPHOSPH9_uc001uem.3_Silent_p.S269S	NM_022782	NP_073619	Q99550	MPP9_HUMAN	Homo sapiens M-phase phosphoprotein 9 (MPHOSPH9), mRNA.	815					M phase of mitotic cell cycle	Golgi membrane|centriole				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		TACTTGGAGTACTTGATTTAC	0.428000												
CLEC4M	10332	broad.mit.edu	37	19	7831687	7831687	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:7831687G>T	uc010dvt.3	+	4	1048	c.930G>T	c.(928-930)gaG>gaT	p.E310D	CLEC4M_uc010xjv.1_3'UTR|CLEC4M_uc002mhy.2_3'UTR|CLEC4M_uc002mih.3_Missense_Mutation_p.E287D|CLEC4M_uc010xjw.2_Missense_Mutation_p.E243D|CLEC4M_uc010dvs.3_Missense_Mutation_p.E286D|CLEC4M_uc010xjx.2_Missense_Mutation_p.E259D|CLEC4M_uc002mhz.3_Missense_Mutation_p.E218D|CLEC4M_uc002mic.3_Missense_Mutation_p.E282D|CLEC4M_uc002mia.3_Missense_Mutation_p.E174D	NM_001144909	NP_001138381	Q9H2X3	CLC4M_HUMAN	Homo sapiens C-type lectin domain family 4, member M (CLEC4M), transcript variant 9, mRNA.	310	C-type lectin.				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						AAACTGCTGAGGAGCAGGTAC	0.592000												
SLC25A10	1468	broad.mit.edu	37	17	79671731	79671731	+	Silent	SNP	T	T	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:79671731T>A	uc010wut.2	+	2	462	c.330T>A	c.(328-330)gcT>gcA	p.A110A	SLC25A10_uc002kbh.2_Silent_p.A110A	NM_012140	NP_036272	Q9UBX3	DIC_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10 (SLC25A10), nuclear gene encoding mitochondrial protein, mRNA.	0					gluconeogenesis|mitochondrial transport	integral to membrane|mitochondrial inner membrane|nucleus	protein binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		Succinic acid(DB00139)	CTGTCCCTGCTGCAGCAGCCC	0.587000												
SLC26A4	5172	broad.mit.edu	37	7	107334884	107334884	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:107334884G>A	uc003vep.3	+	10	1524	c.1300G>A	c.(1300-1302)Gcc>Acc	p.A434T	SLC26A4_uc011kmb.2_Missense_Mutation_p.A21T|SLC26A4_uc011kmc.2_Intron|SLC26A4_uc011kmd.2_Missense_Mutation_p.A3T	NM_000441	NP_000432	O43511	S26A4_HUMAN	Homo sapiens solute carrier family 26, member 4 (SLC26A4), mRNA.	434					regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TGTGATGATCGCCATTCTTGC	0.498000									Pendred syndrome			
GAS8	2622	broad.mit.edu	37	16	90099232	90099232	+	Missense_Mutation	SNP	G	G	A	rs145845004		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:90099232G>A	uc002fqi.1	+	3	517	c.395G>A	c.(394-396)cGc>cAc	p.R132H	GAS8_uc010vps.1_Missense_Mutation_p.R107H|GAS8_uc002fqh.2_Missense_Mutation_p.R49H|GAS8_uc010vpt.1_Missense_Mutation_p.R132H|GAS8_uc010vpu.1_Missense_Mutation_p.R49H|GAS8_uc010vpv.1_Missense_Mutation_p.R103H|GAS8_uc010cjc.1_Missense_Mutation_p.R49H|GAS8_uc010vpw.1_Missense_Mutation_p.R49H|GAS8_uc002fqj.1_5'UTR|C16orf3_uc002fqk.1_5'Flank	NM_001481	NP_001472	O95995	GAS8_HUMAN	Homo sapiens growth arrest-specific 8 (GAS8), transcript variant 1, mRNA.	132	Microtubule-binding.				negative regulation of cell proliferation|sperm motility	Golgi apparatus|cilium|microtubule|microtubule basal body|microtubule-based flagellum	protein binding			endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		AAAGAGCACCGCATACAGGAG	0.557000												
C9orf156	51531	broad.mit.edu	37	9	100672390	100672390	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:100672390C>T	uc004axv.1	-	3	995	c.918G>A	c.(916-918)caG>caA	p.Q306Q	C9orf156_uc004axw.1_Silent_p.Q203Q|C9orf156_uc010msq.1_Silent_p.Q203Q	NM_016481	NP_057565	Q9BU70	NAP1_HUMAN	Homo sapiens chromosome 9 open reading frame 156 (C9orf156), mRNA.	306					interspecies interaction between organisms		hydrolase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)	13		Acute lymphoblastic leukemia(62;0.158)				GGGCCATGGGCTGTGTCTCTG	0.567000												
ZDHHC1	29800	broad.mit.edu	37	16	67432185	67432185	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:67432185C>T	uc010vjm.2	-	7	1161	c.857G>A	c.(856-858)cGc>cAc	p.R286H		NM_013304	NP_037436	Q8WTX9	ZDHC1_HUMAN	Homo sapiens zinc finger, DHHC-type containing 1 (ZDHHC1), mRNA.	286						integral to membrane	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|urinary_tract(1)	10		Ovarian(137;0.223)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)		CTGTGGTGGGCGGTGCTGCAC	0.617000												
ACSS3	79611	broad.mit.edu	37	12	81610701	81610701	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:81610701C>T	uc001szl.1	+	9	1467	c.1376C>T	c.(1375-1377)gCg>gTg	p.A459V	ACSS3_uc001szm.1_Missense_Mutation_p.A458V|ACSS3_uc001szn.1_Missense_Mutation_p.A141V	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 3 (ACSS3), mRNA.	459						mitochondrion	ATP binding|acetate-CoA ligase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						CCAATTACTGCGTCATGTGTT	0.398000												
SENP1	29843	broad.mit.edu	37	12	48477397	48477397	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:48477397G>A	uc001rqx.3	-	5	975	c.529C>T	c.(529-531)Cga>Tga	p.R177*	SENP1_uc001rqw.3_Nonsense_Mutation_p.R177*|SENP1_uc001rqy.3_5'UTR|SENP1_uc001rqz.3_5'UTR|SENP1_uc009zkx.3_Nonsense_Mutation_p.R177*	NM_014554	NP_055369	Q9P0U3	SENP1_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 1 (SENP1), mRNA.	177					activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	SUMO-specific protease activity|endopeptidase activity			large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				CTAACATGTCGCCTCTGAGTT	0.398000												
PCDH10	57575	broad.mit.edu	37	4	134072314	134072314	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:134072314C>T	uc003iha.3	+	0	1845	c.1019C>T	c.(1018-1020)gCg>gTg	p.A340V	BC040219_uc003igy.3_5'Flank|PCDH10_uc003igz.3_Missense_Mutation_p.A340V	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	Homo sapiens protocadherin 10 (PCDH10), transcript variant 1, mRNA.	340	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GCCGTGCCTGCGCACTGCAAG	0.607000												
ACE	1636	broad.mit.edu	37	17	61571353	61571353	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:61571353C>T	uc002jau.2	+	20	3241	c.3207C>T	c.(3205-3207)gtC>gtT	p.V1069V	ACE_uc010wpj.2_Silent_p.V495V|ACE_uc010ddv.2_Silent_p.V296V|ACE_uc002jav.2_Silent_p.V495V|ACE_uc002jaw.2_Non-coding_Transcript|ACE_uc010wpk.2_Silent_p.V315V	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	1069	Peptidase M2 2.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GCTACCTCGTCGATCAGTGGC	0.537000												
AKAP1	8165	broad.mit.edu	37	17	55184443	55184443	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:55184443A>G	uc010wnl.2	+	2	1900	c.1618A>G	c.(1618-1620)Act>Gct	p.T540A	AKAP1_uc002iux.3_Missense_Mutation_p.T540A|AKAP1_uc021uak.1_Missense_Mutation_p.T540A|AKAP1_uc010dcm.3_Missense_Mutation_p.T540A|AKAP1_uc002iuy.3_Non-coding_Transcript	NM_001242902	NP_001229831	Q92667	AKAP1_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 1 (AKAP1), transcript variant 2, mRNA.	540					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	RNA binding|protein binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					GCCAGAAAGTACTGTGCCCTT	0.567000												
SLC29A4	222962	broad.mit.edu	37	7	5331433	5331433	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:5331433C>T	uc003sod.3	+	4	686	c.525C>T	c.(523-525)acC>acT	p.T175T	SLC29A4_uc011jwg.1_Non-coding_Transcript|SLC29A4_uc003soc.3_Silent_p.T175T|SLC29A4_uc003soe.3_Missense_Mutation_p.P163L	NM_153247	NP_694979	Q7RTT9	S29A4_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 4 (SLC29A4), transcript variant 2, mRNA.	175					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		CTGTGGGCACCGTGGCCTTCG	0.652000												
L3MBTL3	84456	broad.mit.edu	37	6	130372535	130372535	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:130372535C>A	uc003qbt.3	+	5	607	c.431C>A	c.(430-432)gCt>gAt	p.A144D	L3MBTL3_uc003qbu.3_Missense_Mutation_p.A119D	NM_032438	NP_115814	Q96JM7	LMBL3_HUMAN	Homo sapiens l(3)mbt-like 3 (Drosophila) (L3MBTL3), transcript variant 1, mRNA.	144					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		CAGAATTGTGCTCGGCACATC	0.408000												
TNN	63923	broad.mit.edu	37	1	175046767	175046767	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:175046767G>A	uc001gkl.1	+	1	326	c.213G>A	c.(211-213)tcG>tcA	p.S71S	TNN_uc010pmx.1_Silent_p.S71S	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	71					cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		ATGGGGCTTCGCTCTTGGCCC	0.587000												
FAM102B	284611	broad.mit.edu	37	1	109154858	109154858	+	Missense_Mutation	SNP	G	G	A	rs141529277	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:109154858G>A	uc010ouy.2	+	3	427	c.347G>A	c.(346-348)cGc>cAc	p.R116H		NM_001010883	NP_001010883	Q5T8I3	F102B_HUMAN	Homo sapiens family with sequence similarity 102, member B (FAM102B), mRNA.	116										autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	5		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)		ACCACTCGCCGCTGTTTACTG	0.363000												
ANK1	286	broad.mit.edu	37	8	41553956	41553956	+	Missense_Mutation	SNP	G	G	A	rs140978700		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:41553956G>A	uc003xok.3	-	25	2969	c.2885C>T	c.(2884-2886)cCg>cTg	p.P962L	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Missense_Mutation_p.P278L|ANK1_uc003xoi.3_Missense_Mutation_p.P962L|ANK1_uc003xoj.3_Missense_Mutation_p.P962L|ANK1_uc003xol.3_Missense_Mutation_p.P962L|ANK1_uc003xom.3_Missense_Mutation_p.P1003L	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	962	ZU5.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CAGTGGGGGCGGCGTGCTGAG	0.706000												
OR3A2	4995	broad.mit.edu	37	17	3181297	3181297	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:3181297C>T	uc002fvg.3	-	0	972	c.933G>A	c.(931-933)tgG>tgA	p.W311*		NM_002551	NP_002542	P47893	OR3A2_HUMAN	Homo sapiens olfactory receptor, family 3, subfamily A, member 2 (OR3A2), mRNA.	311					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			ovary(1)	1						AAAATATTTGCCACAGAGCAC	0.463000												
DHX30	22907	broad.mit.edu	37	3	47888355	47888355	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:47888355G>A	uc003cru.3	+	10	2219	c.1793G>A	c.(1792-1794)cGc>cAc	p.R598H	DHX30_uc003crt.3_Missense_Mutation_p.R559H|MIR1226_uc021wxj.1_5'Flank	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 30 (DHX30), transcript variant 1, mRNA.	598	Helicase ATP-binding.					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GACAATGAGCGCTTCTCCCGA	0.597000												
POMC	5443	broad.mit.edu	37	2	25383970	25383970	+	Missense_Mutation	SNP	C	C	T	rs145696771		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:25383970C>T	uc002rfy.1	-	3	1047	c.784G>A	c.(784-786)Gcc>Acc	p.A262T	POMC_uc002rfz.1_Missense_Mutation_p.A262T|POMC_uc002rga.1_Missense_Mutation_p.A262T	NM_001035256	NP_001030333	P01189	COLI_HUMAN	Homo sapiens proopiomelanocortin (POMC), transcript variant 1, mRNA.	262					cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure	extracellular space|stored secretory granule	hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108)	TTCTTGTAGGCGTTCTTGATG	0.657000												
ZNF620	253639	broad.mit.edu	37	3	40557940	40557940	+	Silent	SNP	C	C	T	rs139782096	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:40557940C>T	uc003ckk.3	+	4	1004	c.855C>T	c.(853-855)tgC>tgT	p.C285C	ZNF620_uc003ckl.3_Silent_p.C171C	NM_175888	NP_787084	Q6ZNG0	ZN620_HUMAN	Homo sapiens zinc finger protein 620 (ZNF620), transcript variant 1, mRNA.	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(1)|urinary_tract(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		GTAAGGAGTGCGGCAAGGCCT	0.443000												
TPH1	7166	broad.mit.edu	37	11	18048170	18048170	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:18048170G>A	uc001mnp.2	-	5	696	c.670C>T	c.(670-672)Cgt>Tgt	p.R224C	TPH1_uc009yhe.2_Non-coding_Transcript	NM_004179	NP_004170	P17752	TPH1_HUMAN	Homo sapiens tryptophan hydroxylase 1 (TPH1), mRNA.	224					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	p.R224H(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	AAACCTGTACGCTCTGCAAAG	0.423000												
UNC45A	55898	broad.mit.edu	37	15	91483621	91483621	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:91483621G>A	uc002bqg.3	+	5	945	c.605G>A	c.(604-606)cGt>cAt	p.R202H	UNC45A_uc002bqd.3_Missense_Mutation_p.R187H|UNC45A_uc010uqo.1_Missense_Mutation_p.R194H|UNC45A_uc010uqp.1_Non-coding_Transcript|UNC45A_uc010uqq.1_Missense_Mutation_p.R202H	NM_018671	NP_061141	Q9H3U1	UN45A_HUMAN	Homo sapiens unc-45 homolog A (C. elegans) (UNC45A), transcript variant 2, mRNA.	202					cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CTCTTGCAACGTTTACTGGAC	0.572000												
FYCO1	79443	broad.mit.edu	37	3	46009957	46009957	+	Missense_Mutation	SNP	C	C	T	rs146311777	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:46009957C>T	uc011bal.1	-	6	981	c.869G>A	c.(868-870)cGc>cAc	p.R290H	FYCO1_uc003cpb.4_Missense_Mutation_p.R290H	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	Homo sapiens FYVE and coiled-coil domain containing 1 (FYCO1), mRNA.	290					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		GCAAGTGAGGCGAACGTTGTC	0.622000												
CDKL3	51265	broad.mit.edu	37	5	133537696	133537696	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:133537696C>T	uc003kze.3	-	2	727	c.329G>A	c.(328-330)cGc>cAc	p.R110H		NM_002715	NP_002706	Q8IVW4	CDKL3_HUMAN	Homo sapiens protein phosphatase 2, catalytic subunit, alpha isozyme (PPP2CA), mRNA.	0	Protein kinase.					cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AATGGTGATGCGTTCACGGTA	0.323000												
AFF1	4299	broad.mit.edu	37	4	88011180	88011180	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:88011180G>A	uc011ccz.2	+	5	1424	c.1149G>A	c.(1147-1149)acG>acA	p.T383T	AFF1_uc003hqh.2_Silent_p.T382T|AFF1_uc011ccy.2_Intron|AFF1_uc003hqj.4_Silent_p.T376T|AFF1_uc003hqk.4_Silent_p.T376T|AFF1_uc011cda.2_Silent_p.T14T	NM_001166693	NP_001160165	P51825	AFF1_HUMAN	Homo sapiens AF4/FMR2 family, member 1 (AFF1), transcript variant 1, mRNA.	376						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		CAATACATACGCCTAGTACAG	0.403000												
TPO	7173	broad.mit.edu	37	2	1507808	1507808	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:1507808C>T	uc002qwr.3	+	13	2561	c.2475C>T	c.(2473-2475)tgC>tgT	p.C825C	TPO_uc010ewj.3_Non-coding_Transcript|TPO_uc002qww.3_Silent_p.C825C|TPO_uc002qwx.3_Silent_p.C768C|TPO_uc002qwu.3_Silent_p.C768C|TPO_uc010yio.2_Silent_p.C652C|TPO_uc010yip.2_Intron|TPO_uc002qwy.1_Intron|TPO_uc002qwz.3_Intron	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	825	EGF-like; calcium-binding (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	AGTGTCTCTGCGCGGACCCCT	0.577000												
TSHR	7253	broad.mit.edu	37	14	81422084	81422084	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:81422084C>T	uc001xvd.1	+	0	216	c.60C>T	c.(58-60)ggC>ggT	p.G20G	CEP128_uc001xva.1_Intron|TSHR_uc001xvb.1_Silent_p.G20G|TSHR_uc001xvc.3_Silent_p.G20G|TSHR_uc010tvs.2_Silent_p.G20G	NM_000369	NP_000360	P16473	TSHR_HUMAN	Homo sapiens thyroid stimulating hormone receptor (TSHR), transcript variant 1, mRNA.	20					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	GGGACCTGGGCGGAATGGGGT	0.602000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism					
HSPA2	3306	broad.mit.edu	37	14	65008477	65008477	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:65008477C>T	uc001xhj.3	+	1	986	c.910C>T	c.(910-912)Cgc>Tgc	p.R304C	HSPA2_uc001xhk.4_Missense_Mutation_p.R304C	NM_021979	NP_068814	P54652	HSP72_HUMAN	Homo sapiens heat shock 70kDa protein 2 (HSPA2), mRNA.	304					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		CACGCGCGCCCGCTTCGAGGA	0.657000												
SEZ6L	23544	broad.mit.edu	37	22	26688919	26688919	+	Silent	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:26688919A>G	uc003acb.3	+	1	838	c.642A>G	c.(640-642)acA>acG	p.T214T	SEZ6L_uc003acd.3_Silent_p.T214T|SEZ6L_uc011akd.2_Silent_p.T214T|SEZ6L_uc003ace.3_Silent_p.T214T|SEZ6L_uc011akc.2_Silent_p.T214T|SEZ6L_uc003acc.3_Silent_p.T214T|SEZ6L_uc003acf.1_5'UTR|SEZ6L_uc010gvc.1_5'UTR	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	214						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						TGGCCCACACACTCCCCCAGA	0.647000												
SMAD1	4086	broad.mit.edu	37	4	146461063	146461063	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:146461063G>A	uc003ikc.3	+	2	924	c.508G>A	c.(508-510)Gcc>Acc	p.A170T	SMAD1_uc003ikd.3_Missense_Mutation_p.A170T|SMAD1_uc010iov.3_Missense_Mutation_p.A170T|SMAD1_uc011cic.2_Missense_Mutation_p.A170T|SMAD1_uc003ikf.3_Non-coding_Transcript	NM_005900	NP_005891	Q15797	SMAD1_HUMAN	Homo sapiens SMAD family member 1 (SMAD1), transcript variant 1, mRNA.	170					BMP signaling pathway|SMAD protein complex assembly|embryonic pattern specification|primary miRNA processing|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|nuclear inner membrane	I-SMAD binding|co-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17	all_hematologic(180;0.151)					GCCACTCAACGCCACTTTTCC	0.507000												
EGFR	1956	broad.mit.edu	37	7	55242511	55242511	+	Missense_Mutation	SNP	G	G	A	rs121913418		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:55242511G>A	uc003tqk.3	+	18	2527	c.2281G>A	c.(2281-2283)Gat>Aat	p.D761N	EGFR_uc022adm.1_Missense_Mutation_p.D761N|EGFR_uc010kzg.2_Missense_Mutation_p.D716N|EGFR_uc022adn.1_Missense_Mutation_p.D716N|EGFR_uc011kco.2_Missense_Mutation_p.D708N	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	761	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.D761Y(11)|p.D761_E762insEAFQ(3)|p.D761G(2)|p.D761N(2)|p.N756_L760del(1)|p.S752_V769del(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GGAAATCCTCGATGTGAGTTT	0.498000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
TNKS	8658	broad.mit.edu	37	8	9605648	9605648	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:9605648G>A	uc003wss.3	+	17	2763	c.2758G>A	c.(2758-2760)Gcc>Acc	p.A920T	TNKS_uc011kww.2_Missense_Mutation_p.A683T|TNKS_uc010lrt.1_Non-coding_Transcript	NM_003747	NP_003738	O95271	TNKS1_HUMAN	Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase (TNKS), mRNA.	920					Wnt receptor signaling pathway|mRNA transport|mitotic spindle organization|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport	Golgi membrane|chromosome, centromeric region|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding	p.A920T(2)		NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		GCAGCTGTGCGCCCTCCTCCT	0.507000												
RPAP3	79657	broad.mit.edu	37	12	48073291	48073291	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:48073291C>T	uc001rpr.3	-	11	1388	c.1272G>A	c.(1270-1272)ccG>ccA	p.P424P	RPAP3_uc010slk.2_Silent_p.P265P|RPAP3_uc001rps.3_Intron	NM_024604	NP_001139548	Q9H6T3	RPAP3_HUMAN	Homo sapiens RNA polymerase II associated protein 3 (RPAP3), transcript variant 1, mRNA.	424							binding	p.P424L(1)		endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Lung SC(27;0.192)					ATCCAGGATGCGGTGGATTAT	0.323000												
CALHM2	51063	broad.mit.edu	37	10	105209370	105209370	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:105209370G>A	uc001kxa.3	-	2	940	c.329C>T	c.(328-330)gCg>gTg	p.A110V	CALHM2_uc001kxc.3_Missense_Mutation_p.A110V|CALHM2_uc001kxb.3_Missense_Mutation_p.A110V|CALHM2_uc001kxd.1_Missense_Mutation_p.A110V	NM_015916	NP_057000	Q9HA72	CAHM2_HUMAN	Homo sapiens calcium homeostasis modulator 2 (CALHM2), transcript variant 1, mRNA.	110						integral to membrane				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						GGCCACAGCCGCACGTCCCAG	0.627000												
ABCC10	89845	broad.mit.edu	37	6	43406513	43406513	+	Missense_Mutation	SNP	G	G	A	rs140043327		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:43406513G>A	uc003ouy.1	+	7	2322	c.2107G>A	c.(2107-2109)Gcc>Acc	p.A703T	ABCC10_uc003ouz.1_Missense_Mutation_p.A675T|ABCC10_uc010jyo.1_5'UTR	NM_001198934	NP_001185863	Q5T3U5	MRP7_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA.	703	ABC transporter 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			AGAAGCCTGCGCCCTCAATGA	0.527000												
OXGR1	27199	broad.mit.edu	37	13	97639229	97639229	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:97639229A>C	uc001vmx.1	-	3	1029	c.785T>G	c.(784-786)gTc>gGc	p.V262G	OXGR1_uc010afr.1_Missense_Mutation_p.V262G|OXGR1_uc021rlr.1_Missense_Mutation_p.V262G	NM_080818	NP_543008	Q96P68	OXGR1_HUMAN	Homo sapiens oxoglutarate (alpha-ketoglutarate) receptor 1 (OXGR1), mRNA.	262						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			GATCCGAATGACCCTCAAGAT	0.438000												
SGOL2	151246	broad.mit.edu	37	2	201437568	201437568	+	Silent	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:201437568A>G	uc002uvw.2	+	6	2612	c.2499A>G	c.(2497-2499)gtA>gtG	p.V833V	SGOL2_uc010zhd.1_Silent_p.V833V|SGOL2_uc010zhe.1_Silent_p.V833V	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN	Homo sapiens shugoshin-like 2 (S. pombe) (SGOL2), transcript variant 1, mRNA.	833					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						ACAAAGGTGTACATGACCTAG	0.308000												
HS3ST5	222537	broad.mit.edu	37	6	114379236	114379236	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:114379236C>T	uc003pwg.4	-	1	258	c.226G>A	c.(226-228)Gct>Act	p.A76T	BC042098_uc003pwf.3_Intron|HS3ST5_uc003pwh.4_Missense_Mutation_p.A76T	NM_153612	NP_705840	Q8IZT8	HS3S5_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 5 (HS3ST5), mRNA.	76					heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		TCCTTGGAAGCGTTGCCCTTC	0.592000												
TUBB3	10381	broad.mit.edu	37	16	89986038	89986038	+	Silent	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:89986038C>A	uc002fpf.2	+	0	780	c.372C>A	c.(370-372)acC>acA	p.T124T	TUBB3_uc002fpe.4_Silent_p.T124T|TUBB3_uc010ciz.1_5'Flank	NM_006086	NP_006077	Q13509	TBB3_HUMAN	Homo sapiens tubulin, beta 3 class III (TUBB3), transcript variant 1, mRNA.	0					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		ACGTGATCACCTGCAGCTCCA	0.637000												
NUMA1	4926	broad.mit.edu	37	11	71725378	71725378	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:71725378C>T	uc001orl.1	-	14	3343	c.3171G>A	c.(3169-3171)acG>acA	p.T1057T	NUMA1_uc009ysw.1_Silent_p.T620T|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Silent_p.T1057T|NUMA1_uc001orn.2_Silent_p.T620T|NUMA1_uc009ysx.1_Silent_p.T1057T|NUMA1_uc001oro.1_Silent_p.T1057T	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	Homo sapiens nuclear mitotic apparatus protein 1 (NUMA1), mRNA.	1057					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						CTTCCTTTTCCGTCAGGGCAT	0.587000			T	RARA	APL							
C9orf129	445577	broad.mit.edu	37	9	96081439	96081439	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:96081439C>T	uc010mre.3	-	3	747	c.383G>A	c.(382-384)gGa>gAa	p.G128E	WNK2_uc011lud.1_3'UTR|WNK2_uc004atj.3_Intron|WNK2_uc004atk.3_3'UTR	NM_001098808	NP_001092278	Q5T035	CI129_HUMAN	Homo sapiens chromosome 9 open reading frame 129 (C9orf129), mRNA.	128										endometrium(2)|large_intestine(1)|lung(1)|ovary(2)	6						GGCACGGAATCCCCAATAGAT	0.463000												
PARP1	142	broad.mit.edu	37	1	226576444	226576444	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:226576444G>A	uc001hqd.4	-	4	801	c.630C>T	c.(628-630)ggC>ggT	p.G210G		NM_001618	NP_001609	P09874	PARP1_HUMAN	Homo sapiens poly (ADP-ribose) polymerase 1 (PARP1), mRNA.	210					cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|NAD+ ADP-ribosyltransferase activity|identical protein binding|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		CCACCTCATCGCCTTTTCTCT	0.428000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA				
NARF	26502	broad.mit.edu	37	17	80430461	80430461	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:80430461C>T	uc010dit.3	+	4	547	c.407C>T	c.(406-408)aCg>aTg	p.T136M	NARF_uc002kff.4_Missense_Mutation_p.T77M|NARF_uc010wvo.1_Intron|NARF_uc010wvp.1_Intron|NARF_uc002kfg.4_Missense_Mutation_p.T136M|NARF_uc002kfj.4_Missense_Mutation_p.T88M	NM_031968	NP_114174	Q9UHQ1	NARF_HUMAN	Homo sapiens nuclear prelamin A recognition factor (NARF), transcript variant 2, mRNA.	136						lamin filament	lamin binding	p.T136T(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GTATTTGATACGACGATAGCT	0.448000												
CEP164	22897	broad.mit.edu	37	11	117253605	117253605	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:117253605G>T	uc001prc.3	+	13	1818	c.1671G>T	c.(1669-1671)gaG>gaT	p.E557D	CEP164_uc001prb.3_Missense_Mutation_p.E560D|CEP164_uc010rxk.1_Missense_Mutation_p.E531D|CEP164_uc001prf.3_Non-coding_Transcript|CEP164_uc009yzp.1_Non-coding_Transcript|CEP164_uc001prg.1_5'Flank	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	Homo sapiens centrosomal protein 164kDa (CEP164), mRNA.	557	Glu-rich.				DNA repair|G2/M transition of mitotic cell cycle|cell division|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)		AAGAGGCAGAGGATCCTGAGG	0.637000												
ZNF519	162655	broad.mit.edu	37	18	14124358	14124358	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:14124358C>T	uc002kst.2	-	1	334	c.121G>A	c.(121-123)Gtc>Atc	p.V41I	ZNF519_uc002ksr.2_Intron|ZNF519_uc002ksq.2_Non-coding_Transcript	NM_145287	NP_660330	Q8TB69	ZN519_HUMAN	Homo sapiens zinc finger protein 519 (ZNF519), transcript variant 1, mRNA.	41	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						CCCAGGGAGACGAGGTTTCTG	0.413000												
FASN	2194	broad.mit.edu	37	17	80038074	80038074	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:80038074G>A	uc002kdu.3	-	40	7205	c.7088C>T	c.(7087-7089)gCt>gTt	p.A2363V	FASN_uc002kdv.1_Non-coding_Transcript	NM_004104	NP_004095	P49327	FAS_HUMAN	Homo sapiens fatty acid synthase (FASN), mRNA.	2363	Thioesterase (By similarity).			A -> P (in Ref. 9; AAB35516).	energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	Golgi apparatus|cytosol|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	p.E2362K(1)		central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	CTCCGTCTCAGCCTCAGCCTC	0.627000												
TSTD2	158427	broad.mit.edu	37	9	100365028	100365028	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:100365028C>T	uc004axn.3	-	9	1762	c.1274G>A	c.(1273-1275)cGc>cAc	p.R425H	TSTD2_uc004axo.3_Missense_Mutation_p.R199H	NM_139246	NP_640339	Q5T7W7	TSTD2_HUMAN	Homo sapiens thiosulfate sulfurtransferase (rhodanese)-like domain containing 2 (TSTD2), mRNA.	425										large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						CTGGTCCCAGCGGGCTCCACA	0.517000												
SLC40A1	30061	broad.mit.edu	37	2	190445148	190445148	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:190445148G>A	uc002uqp.4	-	0	390	c.39C>T	c.(37-39)tgC>tgT	p.C13C	SLC40A1_uc002uqr.1_Non-coding_Transcript|SLC40A1_uc002uqs.1_Non-coding_Transcript|SLC40A1_uc002uqq.2_Silent_p.C13C|SLC40A1_uc010zfx.1_Non-coding_Transcript	NM_014585	NP_055400	Q9NP59	S40A1_HUMAN	Homo sapiens solute carrier family 40 (iron-regulated transporter), member 1 (SLC40A1), mRNA.	13					anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			ACTCACCACAGCATCCTCTCT	0.587000												
RALGAPA2	57186	broad.mit.edu	37	20	20571843	20571843	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:20571843C>T	uc002wrz.3	-	16	2462	c.2319G>A	c.(2317-2319)ccG>ccA	p.P773P	RALGAPA2_uc002wry.3_Silent_p.P388P|RALGAPA2_uc010zsg.2_Silent_p.P221P	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA.	773					activation of Ral GTPase activity	cytosol|nucleus	Ral GTPase activator activity|protein heterodimerization activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						CTGAGCACAGCGGCTCGGGGA	0.498000												
PCDHB2	56133	broad.mit.edu	37	5	140475246	140475246	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:140475246G>A	uc003lil.3	+	0	1010	c.872G>A	c.(871-873)cGc>cAc	p.R291H	PCDHB2_uc003lim.1_5'UTR	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	291	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAAGACATTCGCAAAACGTTT	0.423000												
ZFY	7544	broad.mit.edu	37	Y	2847736	2847736	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrY:2847736G>A	uc004fqj.3	+	7	2429	c.2108G>A	c.(2107-2109)cGc>cAc	p.R703H	ZFY_uc011nan.2_Missense_Mutation_p.R512H|ZFY_uc010nwe.3_Missense_Mutation_p.R626H	NM_003411	NP_003402	P08048	ZFY_HUMAN	Homo sapiens zinc finger protein, Y-linked (ZFY), transcript variant 1, mRNA.	703					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|kidney(3)|large_intestine(1)|lung(3)	8						GTTCTAAGTCGCCATATTCTC	0.373000												
DFNA5	1687	broad.mit.edu	37	7	24789387	24789387	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:24789387C>T	uc010kus.1	-	1	95	c.7G>A	c.(7-9)Gcc>Acc	p.A3T	DFNA5_uc003sxa.1_Missense_Mutation_p.A3T|DFNA5_uc010kut.1_Intron	NM_001127453	NP_001120926	O60443	DFNA5_HUMAN	Homo sapiens deafness, autosomal dominant 5 (DFNA5), transcript variant 2, mRNA.	3					sensory perception of sound					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						GTTGCTTTGGCAAACATTTTG	0.328000												
LRP1B	53353	broad.mit.edu	37	2	141294197	141294197	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:141294197C>T	uc002tvj.1	-	45	8567	c.7595G>A	c.(7594-7596)gGc>gAc	p.G2532D		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	2532	LDL-receptor class A 11.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTGAGGAATGCCATCACAGGT	0.378000										TSP Lung(27;0.18)		
PHF20L1	51105	broad.mit.edu	37	8	133829268	133829268	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:133829268G>A	uc003ytt.3	+	10	1644	c.1319G>A	c.(1318-1320)gGg>gAg	p.G440E	PHF20L1_uc003yts.3_Missense_Mutation_p.G440E|PHF20L1_uc011lja.2_Missense_Mutation_p.G414E|PHF20L1_uc003ytu.1_Intron	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	Homo sapiens PHD finger protein 20-like 1 (PHF20L1), transcript variant 1, mRNA.	440							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GCCACTGATGGGAAAGTATTC	0.403000												
E2F3	1871	broad.mit.edu	37	6	20481611	20481611	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:20481611G>T	uc003nda.2	+	2	1007	c.680G>T	c.(679-681)gGc>gTc	p.G227V	E2F3_uc003ncz.2_Missense_Mutation_p.G221V|E2F3_uc021ymj.1_Missense_Mutation_p.G96V	NM_001949	NP_001940	O00716	E2F3_HUMAN	Homo sapiens E2F transcription factor 3 (E2F3), transcript variant 1, mRNA.	227					G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			GTTCTGGAAGGCATCCACCTC	0.483000												
MKKS	8195	broad.mit.edu	37	20	10393700	10393700	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:10393700G>A	uc002wnt.1	-	2	1350	c.463C>T	c.(463-465)Cgt>Tgt	p.R155C	MKKS_uc002wnu.1_Missense_Mutation_p.R155C|MKKS_uc010zrd.1_Intron	NM_018848	NP_740754	Q9NPJ1	MKKS_HUMAN	Homo sapiens McKusick-Kaufman syndrome (MKKS), transcript variant 1, mRNA.	155			R -> L (in BBS6; increases MKKS protein degradation only; localizes properly to the centrosome).		brain morphogenesis|cerebral cortex development|convergent extension involved in gastrulation|detection of mechanical stimulus involved in sensory perception of sound|fat cell differentiation|flagellum assembly|gonad development|heart looping|hippocampus development|intracellular transport|melanosome transport|photoreceptor cell maintenance|pigment granule aggregation in cell center|protein folding|regulation of cilium beat frequency involved in ciliary motility|sensory perception of smell|social behavior|spermatid development|striatum development	cytosol|microtubule organizing center|motile cilium	ATP binding|unfolded protein binding			kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|stomach(2)	16						AATATACTACGCACCAAACAA	0.423000												
PBX1	5087	broad.mit.edu	37	1	164769123	164769123	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:164769123C>T	uc001gct.3	+	3	1161	c.698C>T	c.(697-699)gCg>gTg	p.A233V	PBX1_uc010pku.2_Missense_Mutation_p.A233V|PBX1_uc001gcs.3_Missense_Mutation_p.A233V|PBX1_uc010pkv.2_Missense_Mutation_p.A150V|PBX1_uc010pkw.1_Missense_Mutation_p.A123V	NM_002585	NP_002576	P40424	PBX1_HUMAN	Homo sapiens pre-B-cell leukemia homeobox 1 (PBX1), transcript variant 1, mRNA.	233					negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						TTTCTGGATGCGCGGTGAGTC	0.612000			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""							
ASTN2	23245	broad.mit.edu	37	9	119976705	119976705	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:119976705C>T	uc004bjt.2	-	2	1048	c.947G>A	c.(946-948)aGc>aAc	p.S316N	ASTN2_uc022bml.1_5'UTR|ASTN2_uc022bmm.1_5'UTR	NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	316						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						GGTCACCTGGCTGCCAAACTC	0.577000												
TH1L	51497	broad.mit.edu	37	20	57568154	57568154	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:57568154C>T	uc002yag.3	+	10	1385	c.1358C>T	c.(1357-1359)gCg>gTg	p.A453V	TH1L_uc002yaf.1_Non-coding_Transcript	NM_198976	NP_945327	Q8IXH7	NELFD_HUMAN	Homo sapiens TH1-like (Drosophila) (TH1L), transcript variant 1, mRNA.	453					negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23	all_lung(29;0.00711)		Colorectal(105;0.109)			GTCCACCTGGCGTTGCTGGAT	0.502000												
SMEK2	57223	broad.mit.edu	37	2	55786066	55786066	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:55786066T>C	uc002rzc.3	-	15	2991	c.2299A>G	c.(2299-2301)Aca>Gca	p.T767A	SMEK2_uc002rzb.3_Missense_Mutation_p.T682A|SMEK2_uc002rzd.3_Missense_Mutation_p.T735A|SMEK2_uc002ryz.3_Missense_Mutation_p.T194A|SMEK2_uc002rza.3_Missense_Mutation_p.T551A	NM_001122964	NP_001116436	Q5MIZ7	P4R3B_HUMAN	Homo sapiens SMEK homolog 2, suppressor of mek1 (Dictyostelium) (SMEK2), transcript variant 1, mRNA.	767						microtubule organizing center|nucleus	protein binding			kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CCAGGAGATGTCCTTTTGGGA	0.378000												
NOS1	4842	broad.mit.edu	37	12	117705930	117705930	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:117705930T>C	uc001twn.2	-	10	2570	c.1859A>G	c.(1858-1860)aAc>aGc	p.N620S	NOS1_uc021ren.1_Missense_Mutation_p.N284S|NOS1_uc021reo.1_Missense_Mutation_p.N284S|NOS1_uc001twm.2_Missense_Mutation_p.N620S	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	620					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CATGTCTAAGTTCATCTTCTT	0.522000												
PTPRT	11122	broad.mit.edu	37	20	40714491	40714491	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:40714491G>T	uc002xkg.3	-	27	4033	c.3849C>A	c.(3847-3849)ttC>ttA	p.F1283L	PTPRT_uc010ggj.3_Missense_Mutation_p.F1302L|PTPRT_uc010ggi.3_Missense_Mutation_p.F486L	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	1283	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ACTGCATACAGAACTGAGATA	0.473000												
EPB41L3	23136	broad.mit.edu	37	18	5407700	5407700	+	Splice_Site	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:5407700C>A	uc002kmt.1	-	15	2243	c.2157_splice	c.e15+1	p.Q719_splice	EPB41L3_uc010wzh.1_Splice_Site_p.Q550_splice|EPB41L3_uc002kmu.1_Intron|EPB41L3_uc010dkq.1_Intron|EPB41L3_uc002kms.1_Intron|EPB41L3_uc010wze.1_Intron|EPB41L3_uc010wzf.1_Intron|EPB41L3_uc010wzg.1_Intron|EPB41L3_uc010dkr.2_Splice_Site_p.Q111_splice	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA.	719	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						AATTTTCTACCTGTGCCTTGA	0.388000												
CACNA1C	775	broad.mit.edu	37	12	2788716	2788716	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:2788716C>T	uc009zdu.1	+	43	5655	c.5342C>T	c.(5341-5343)gCg>gTg	p.A1781V	CACNA1C_uc001qkc.2_Missense_Mutation_p.A1752V|CACNA1C_uc001qjz.2_Missense_Mutation_p.A1733V|CACNA1C_uc001qkd.2_Missense_Mutation_p.A1752V|CACNA1C_uc001qke.2_Missense_Mutation_p.A1722V|CACNA1C_uc001qkf.2_Missense_Mutation_p.A1741V|CACNA1C_uc009zdw.1_Missense_Mutation_p.A1774V|CACNA1C_uc001qkg.2_Missense_Mutation_p.A1739V|CACNA1C_uc001qkh.2_Missense_Mutation_p.A1741V|CACNA1C_uc001qkl.2_Missense_Mutation_p.A1781V|CACNA1C_uc001qkj.2_Missense_Mutation_p.A1733V|CACNA1C_uc001qkk.2_Missense_Mutation_p.A1733V|CACNA1C_uc001qkn.2_Missense_Mutation_p.A1733V|CACNA1C_uc001qkm.2_Missense_Mutation_p.A1722V|CACNA1C_uc001qko.2_Missense_Mutation_p.A1753V|CACNA1C_uc001qkp.2_Missense_Mutation_p.A1733V|CACNA1C_uc001qkq.2_Missense_Mutation_p.A1761V|CACNA1C_uc001qku.2_Missense_Mutation_p.A1733V|CACNA1C_uc001qkr.2_Missense_Mutation_p.A1750V|CACNA1C_uc001qks.2_Missense_Mutation_p.A1733V|CACNA1C_uc001qkt.2_Missense_Mutation_p.A1752V|CACNA1C_uc009zdv.1_Missense_Mutation_p.A1730V|CACNA1C_uc001qkb.2_Missense_Mutation_p.A1733V|CACNA1C_uc001qki.1_Missense_Mutation_p.A1469V|CACNA1C_uc010sea.1_Missense_Mutation_p.A424V|AK093746_uc001qkx.1_Intron|CACNA1C_uc001qky.1_Missense_Mutation_p.A51V	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	1781					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	ATCAACAAGGCGGGCAGCAGC	0.652000												
GLYCTK	132158	broad.mit.edu	37	3	52326603	52326603	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:52326603G>A	uc003ddo.3	+	4	1129	c.1033G>A	c.(1033-1035)Gcc>Acc	p.A345T	GLYCTK_uc003ddq.2_3'UTR|GLYCTK_uc003ddm.3_Intron|GLYCTK_uc003ddn.3_Intron|GLYCTK_uc003ddp.1_Intron|GLYCTK_uc003ddr.3_Missense_Mutation_p.A9T	NM_145262	NP_660305	Q8IVS8	GLCTK_HUMAN	Homo sapiens glycerate kinase (GLYCTK), transcript variant 1, mRNA.	345					protein phosphorylation	Golgi apparatus|mitochondrion	ATP binding|glycerate kinase activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)		AAAAAGTATGGCCCAGTTCTA	0.612000												
C6orf58	352999	broad.mit.edu	37	6	127911356	127911356	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:127911356C>T	uc003qbh.3	+	4	811	c.799C>T	c.(799-801)Cca>Tca	p.P267S		NM_001010905	NP_001010905	Q6P5S2	CF058_HUMAN	Homo sapiens chromosome 6 open reading frame 58 (C6orf58), mRNA.	267						extracellular region				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		GAAGGGCATGCCACCACGAAT	0.413000												
SLC2A7	155184	broad.mit.edu	37	1	9063462	9063462	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:9063462C>T	uc009vmo.1	-	11	1436	c.1436G>A	c.(1435-1437)cGc>cAc	p.R479H		NM_207420	NP_997303	Q6PXP3	GTR7_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 7 (SLC2A7), mRNA.	479						integral to membrane|plasma membrane	sugar transmembrane transporter activity			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		GGCAAAAATGCGGTTTATCTC	0.473000												
BAIAP3	8938	broad.mit.edu	37	16	1394700	1394700	+	Splice_Site	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:1394700G>A	uc002clk.2	+	19	2020	c.1862_splice	c.e19+1	p.S621_splice	BAIAP3_uc010uuz.2_Splice_Site_p.S586_splice|BAIAP3_uc010uva.2_Splice_Site_p.S558_splice|BAIAP3_uc021tag.1_Splice_Site_p.S563_splice|BAIAP3_uc002clj.3_Splice_Site_p.S603_splice|BAIAP3_uc010uvc.1_Splice_Site_p.S550_splice	NM_003933	NP_001186026	O94812	BAIP3_HUMAN	Homo sapiens BAI1-associated protein 3 (BAIAP3), transcript variant 1, mRNA.	621					G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				TCTTCCACAGGTGGGCCTGGC	0.647000												
WNK2	65268	broad.mit.edu	37	9	96021599	96021599	+	Silent	SNP	C	C	T	rs147646744	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:96021599C>T	uc004ati.1	+	10	2769	c.2769C>T	c.(2767-2769)gaC>gaT	p.D923D	WNK2_uc011lud.1_Silent_p.D923D|WNK2_uc004atj.3_Silent_p.D923D|WNK2_uc004atk.3_Silent_p.D560D|WNK2_uc010mrc.1_Silent_p.D871D	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	923					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CGCCTACTGACGTCCCTCCTT	0.667000												
COL22A1	169044	broad.mit.edu	37	8	139668154	139668154	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:139668154T>C	uc003yvd.3	-	44	3766	c.3319A>G	c.(3319-3321)Aat>Gat	p.N1107D	COL22A1_uc011ljo.2_Missense_Mutation_p.N387D	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	1107	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)			GCCAAGAGATTTATGTCCCCT	0.378000										HNSCC(7;0.00092)		
PPYR1	5540	broad.mit.edu	37	10	47087502	47087502	+	Missense_Mutation	SNP	G	G	A	rs139014994		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:47087502G>A	uc001jee.3	+	2	1138	c.719G>A	c.(718-720)cGc>cAc	p.R240H	ANXA8L1_uc001jed.4_Intron|PPYR1_uc009xna.3_Missense_Mutation_p.R240H|PPYR1_uc021ppu.1_Missense_Mutation_p.R240H	NM_005972	NP_005963	P50391	NPY4R_HUMAN	Homo sapiens pancreatic polypeptide receptor 1 (PPYR1), mRNA.	240			R -> C (in dbSNP:rs3824733).		blood circulation|digestion|feeding behavior	integral to plasma membrane		p.R240H(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						ATCTACCGGCGCCTGCAGAGG	0.607000												
RGAG1	57529	broad.mit.edu	37	X	109695400	109695400	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:109695400G>T	uc004eor.2	+	2	1801	c.1555G>T	c.(1555-1557)Gcc>Tcc	p.A519S	RGAG1_uc011msr.1_Missense_Mutation_p.A519S	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	Homo sapiens retrotransposon gag domain containing 1 (RGAG1), mRNA.	519										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						TACGGCAACAGCCTCTGAAAC	0.512000												
PALLD	23022	broad.mit.edu	37	4	169433100	169433100	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:169433100A>G	uc011cjx.2	+	1	656	c.445A>G	c.(445-447)Agc>Ggc	p.S149G	PALLD_uc003iru.3_Missense_Mutation_p.S149G	NM_001166108	NP_001159580	Q8WX93	PALLD_HUMAN	Homo sapiens palladin, cytoskeletal associated protein (PALLD), transcript variant 1, mRNA.	149					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		AAAAACTCCCAGCACAAACGT	0.522000									Pancreatic Cancer, Familial Clustering of			
ZNF416	55659	broad.mit.edu	37	19	58084160	58084160	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:58084160C>T	uc002qpf.3	-	3	1283	c.1112G>A	c.(1111-1113)cGa>cAa	p.R371Q		NM_017879	NP_060349	Q9BWM5	ZN416_HUMAN	Homo sapiens zinc finger protein 416 (ZNF416), mRNA.	371					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		TCTCTGGTGTCGAACAAGAGT	0.428000												
MFSD6	54842	broad.mit.edu	37	2	191301521	191301521	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:191301521A>G	uc002urz.2	+	2	1090	c.766A>G	c.(766-768)Acc>Gcc	p.T256A		NM_017694	NP_060164	Q6ZSS7	MFSD6_HUMAN	Homo sapiens major facilitator superfamily domain containing 6 (MFSD6), mRNA.	256					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						AGGAAGCGTAACCAAGGAGAC	0.443000												
SCN2A	6326	broad.mit.edu	37	2	166152416	166152416	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:166152416G>A	uc002udc.3	+	1	373	c.83G>A	c.(82-84)cGc>cAc	p.R28H	SCN2A_uc002udd.3_Missense_Mutation_p.R28H|SCN2A_uc002ude.3_Missense_Mutation_p.R28H	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	28					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R28H(3)		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)	ATTGAACAACGCATTGCAGAA	0.488000												
BDP1	55814	broad.mit.edu	37	5	70805292	70805292	+	Splice_Site	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:70805292C>T	uc003kbp.1	+	17	2636	c.2373_splice	c.e17-1	p.S791_splice	BDP1_uc003kbn.1_Splice_Site_p.S791_splice|BDP1_uc003kbo.3_Splice_Site_p.S791_splice	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA.	791					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TTTTTTATAGCGTTCAAGAGA	0.378000												
PLCH1	23007	broad.mit.edu	37	3	155215148	155215148	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:155215148A>G	uc021xge.1	-	13	2096	c.1819T>C	c.(1819-1821)Tac>Cac	p.Y607H	PLCH1_uc021xgd.1_Missense_Mutation_p.Y607H|PLCH1_uc021xgf.1_Missense_Mutation_p.Y589H	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	607	PI-PLC Y-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)			GAGTTTGTGTACACAACCAAA	0.453000												
FLNC	2318	broad.mit.edu	37	7	128482937	128482937	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:128482937G>A	uc003vnz.4	+	15	2688	c.2479G>A	c.(2479-2481)Gac>Aac	p.D827N	FLNC_uc003voa.4_Missense_Mutation_p.D827N	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	827					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GAATGACAACGACACCTTCAC	0.587000												
DTL	51514	broad.mit.edu	37	1	212273912	212273912	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:212273912C>T	uc009xdc.3	+	13	1894	c.1580C>T	c.(1579-1581)cCg>cTg	p.P527L	DTL_uc010ptb.2_Missense_Mutation_p.P485L|DTL_uc001hiz.4_Missense_Mutation_p.P256L	NM_016448	NP_057532	Q9NZJ0	DTL_HUMAN	Homo sapiens denticleless homolog (Drosophila) (DTL), mRNA.	527					DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|centrosome|nuclear membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		ATCATGTCTCCGAGAAAAGCC	0.493000												
ST6GALNAC3	256435	broad.mit.edu	37	1	76877955	76877955	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:76877955G>A	uc001dhh.2	+	2	639	c.476G>A	c.(475-477)cGc>cAc	p.R159H	ST6GALNAC3_uc001dhg.4_Missense_Mutation_p.R159H|ST6GALNAC3_uc010orh.1_Missense_Mutation_p.R94H	NM_152996	NP_694541	Q8NDV1	SIA7C_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 (ST6GALNAC3), transcript variant 1, mRNA.	159					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						GGACCTTTCCGCAATATGAGG	0.408000												
ABCF3	55324	broad.mit.edu	37	3	183910955	183910955	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:183910955C>T	uc003fmz.2	+	18	1949	c.1816C>T	c.(1816-1818)Cgt>Tgt	p.R606C	ABCF3_uc003fna.2_Missense_Mutation_p.R600C|ABCF3_uc003fnb.2_Missense_Mutation_p.R287C	NM_018358	NP_060828	Q9NUQ8	ABCF3_HUMAN	Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 3 (ABCF3), mRNA.	606	ABC transporter 2.						ATP binding|ATPase activity	p.R606H(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ACTGGCCATGCGTCCTCTTGC	0.607000												
NME5	8382	broad.mit.edu	37	5	137454523	137454523	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:137454523T>G	uc003lce.3	-	4	617	c.539A>C	c.(538-540)aAa>aCa	p.K180T		NM_003551	NP_003542	P56597	NDK5_HUMAN	Homo sapiens non-metastatic cells 5, protein expressed in (nucleoside-diphosphate kinase) (NME5), mRNA.	180					CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|anti-apoptosis|multicellular organismal development|spermatid development		ATP binding|nucleoside diphosphate kinase activity|protein binding			kidney(1)|large_intestine(1)|lung(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			ATCTGCTGGTTTTTGCTTACA	0.413000												
ATP13A1	57130	broad.mit.edu	37	19	19770544	19770544	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:19770544G>A	uc002nnh.4	-	2	571	c.543C>T	c.(541-543)taC>taT	p.Y181Y	ATP13A1_uc002nng.3_Silent_p.Y63Y	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	Homo sapiens ATPase type 13A1 (ATP13A1), mRNA.	181					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CCAGGGCATCGTAGGAATACT	0.542000												
FANCA	2175	broad.mit.edu	37	16	89857839	89857839	+	Missense_Mutation	SNP	G	G	A	rs144234991		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:89857839G>A	uc002fou.1	-	13	1373	c.1331C>T	c.(1330-1332)gCg>gTg	p.A444V	FANCA_uc010vpn.1_Missense_Mutation_p.A444V	NM_000135	NP_000126	O15360	FANCA_HUMAN	Homo sapiens Fanconi anemia, complementation group A (FANCA), transcript variant 1, mRNA.	444					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		TGACAGGAACGCAGAGGGGCC	0.592000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia			
CYP4V2	285440	broad.mit.edu	37	4	187120119	187120119	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:187120119A>G	uc003iyw.4	+	5	987	c.683A>G	c.(682-684)gAg>gGg	p.E228G		NM_207352	NP_997235	Q6ZWL3	CP4V2_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily V, polypeptide 2 (CYP4V2), mRNA.	228					response to stimulus|visual perception	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		AGAATGAGTGAGATGATATTT	0.383000												
DHX32	55760	broad.mit.edu	37	10	127540971	127540971	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:127540971C>T	uc001ljf.1	-	5	1733	c.1242G>A	c.(1240-1242)acG>acA	p.T414T	BCCIP_uc001ljd.4_Intron|DHX32_uc001lje.1_Silent_p.T38T|DHX32_uc001ljg.1_Silent_p.T414T|DHX32_uc009yam.1_Silent_p.T169T	NM_018180	NP_060650	Q7L7V1	DHX32_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 32 (DHX32), mRNA.	414						mitochondrion|nucleus	ATP binding|helicase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GCTTCAGTGGCGTCATGTCTT	0.438000												
IKZF3	22806	broad.mit.edu	37	17	37948990	37948990	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:37948990G>A	uc002hsu.3	-	3	422	c.360C>T	c.(358-360)tgC>tgT	p.C120C	IKZF3_uc002htd.3_Silent_p.C86C|IKZF3_uc010cwd.3_Intron|IKZF3_uc002hsv.3_Silent_p.C86C|IKZF3_uc010cwe.3_Silent_p.C120C|IKZF3_uc010cwf.3_Intron|IKZF3_uc010cwg.3_Intron|IKZF3_uc002hsw.3_Silent_p.C120C|IKZF3_uc002hsx.3_Silent_p.C120C|IKZF3_uc002hsy.3_Silent_p.C120C|IKZF3_uc002hsz.3_Silent_p.C120C|IKZF3_uc002hta.3_Silent_p.C120C|IKZF3_uc002htb.3_Non-coding_Transcript|IKZF3_uc010cwh.3_Intron|IKZF3_uc002htc.3_5'UTR	NM_012481	NP_036613	Q9UKT9	IKZF3_HUMAN	Homo sapiens IKAROS family zinc finger 3 (Aiolos) (IKZF3), transcript variant 1, mRNA.	120					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CACACACATCGCAGTTCATCT	0.378000												
WDR35	57539	broad.mit.edu	37	2	20113444	20113444	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:20113444C>T	uc002rdi.3	-	27	3529	c.3421G>A	c.(3421-3423)Gtt>Att	p.V1141I	WDR35_uc002rdj.3_Missense_Mutation_p.V1130I|WDR35_uc010ext.3_Non-coding_Transcript|WDR35_uc002rdh.3_Silent_p.A533A	NM_001006657	NP_001006658	Q9P2L0	WDR35_HUMAN	Homo sapiens WD repeat domain 35 (WDR35), transcript variant 1, mRNA.	1141										breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTGTGGCAACGCATGTTGGC	0.408000												
TM9SF1	10548	broad.mit.edu	37	14	24679618	24679618	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:24679618G>A	uc010tob.1	-	4	1258	c.624C>T	c.(622-624)gaC>gaT	p.D208D	TM9SF1_uc010toc.2_Non-coding_Transcript|TM9SF1_uc001wni.3_Silent_p.D225D|TM9SF1_uc001wnj.3_Silent_p.D225D	NM_006405	NP_006396	O15321	TM9S1_HUMAN	Homo sapiens transmembrane 9 superfamily member 1 (TM9SF1), transcript variant 1, mRNA.	0					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		CTTCTTCCTTGTCGCCCACAT	0.507000												
TIMM8B	26521	broad.mit.edu	37	11	111956131	111956131	+	Missense_Mutation	SNP	C	C	T	rs116405897	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:111956131C>T	uc001pmx.3	-	1	215	c.185G>A	c.(184-186)cGc>cAc	p.R62H	TIMM8B_uc001pmy.3_Non-coding_Transcript|SDHD_uc001pmz.3_5'Flank	NM_012459	NP_036591	Q9Y5J9	TIM8B_HUMAN	Homo sapiens translocase of inner mitochondrial membrane 8 homolog B (yeast) (TIMM8B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	47					protein import into mitochondrial inner membrane|sensory perception of sound|transmembrane transport	mitochondrial inner membrane presequence translocase complex|mitochondrial intermembrane space protein transporter complex	protein binding|zinc ion binding	p.R62H(1)		large_intestine(1)	1		all_cancers(61;1.84e-10)|all_epithelial(67;9.33e-06)|Melanoma(852;4.01e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;6.01e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;1.03e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0512)		AGAGTCTAGGCGATTCCCTGG	0.463000												
NCKAP5	344148	broad.mit.edu	37	2	133887575	133887575	+	Missense_Mutation	SNP	G	G	A	rs142446996	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:133887575G>A	uc002ttp.3	-	5	690	c.316C>T	c.(316-318)Cgt>Tgt	p.R106C	NCKAP5_uc002ttq.3_Missense_Mutation_p.R106C|NCKAP5_uc002ttt.1_Missense_Mutation_p.R106C|NCKAP5_uc002tts.1_Missense_Mutation_p.R81C	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	106							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TGCAAGCTACGCATCTGAATT	0.488000												
NAPA	8775	broad.mit.edu	37	19	47995277	47995277	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:47995277C>T	uc002phd.2	-	7	979	c.661G>A	c.(661-663)Gcc>Acc	p.A221T	LOC100505681_uc021uwo.1_Intron|NAPA_uc002pha.2_Missense_Mutation_p.A221T|NAPA_uc002phc.2_Missense_Mutation_p.A108T	NM_003827	NP_003818	P54920	SNAA_HUMAN	Homo sapiens N-ethylmaleimide-sensitive factor attachment protein, alpha (NAPA), transcript variant 1, mRNA.	221					cellular membrane fusion|intra-Golgi vesicle-mediated transport|post-Golgi vesicle-mediated transport	cytosol				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)	11		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000466)|all cancers(93;0.000739)|Epithelial(262;0.0168)|GBM - Glioblastoma multiforme(486;0.049)		GCTACCTTGGCGTTGAGCATG	0.627000												
SCN2A	6326	broad.mit.edu	37	2	166246006	166246006	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:166246006C>T	uc002udc.3	+	26	5980	c.5690C>T	c.(5689-5691)aCg>aTg	p.T1897M	SCN2A_uc002udd.3_Missense_Mutation_p.T1897M|SCN2A_uc002ude.3_Missense_Mutation_p.T1897M|SCN2A_uc021vry.1_Missense_Mutation_p.T397M	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	1897					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)	GAGCCCATTACGACCACGTTG	0.453000												
C1orf9	51430	broad.mit.edu	37	1	172558919	172558919	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:172558919A>T	uc001giq.4	+	17	2994	c.2678A>T	c.(2677-2679)aAt>aTt	p.N893I	C1orf9_uc010pmm.1_Missense_Mutation_p.N893I|C1orf9_uc009wwd.3_Missense_Mutation_p.N849I|C1orf9_uc010pmn.2_Intron|C1orf9_uc010pmo.2_Non-coding_Transcript	NM_014283	NP_055098	Q9UBS9	OSPT_HUMAN	Homo sapiens chromosome 1 open reading frame 9 (C1orf9), transcript variant 1, mRNA.	893					multicellular organismal development|ossification	integral to membrane|rough endoplasmic reticulum membrane				breast(1)|endometrium(5)|large_intestine(10)|lung(14)|ovary(2)|skin(2)|urinary_tract(1)	35		Breast(1374;0.212)		Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544)		GAATTGCAAAATTCTACAGAT	0.353000												
EFTUD2	9343	broad.mit.edu	37	17	42956967	42956967	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:42956967C>T	uc002ihn.2	-	8	920	c.659G>A	c.(658-660)cGc>cAc	p.R220H	EFTUD2_uc010wje.1_Missense_Mutation_p.R185H|EFTUD2_uc010wjf.1_Missense_Mutation_p.R210H	NM_004247	NP_001136077	Q15029	U5S1_HUMAN	Homo sapiens elongation factor Tu GTP binding domain containing 2 (EFTUD2), transcript variant 1, mRNA.	220						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				ATCTGAGATGCGCAAGCCAGC	0.478000												
MARCH10	162333	broad.mit.edu	37	17	60879031	60879031	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:60879031C>T	uc010dds.3	-	1	351	c.66G>A	c.(64-66)caG>caA	p.Q22Q	MARCH10_uc010ddr.3_Silent_p.Q22Q|MARCH10_uc002jag.4_Silent_p.Q22Q|MARCH10_uc002jah.2_Silent_p.Q22Q	NM_152598	NP_689811	Q8NA82	MARHA_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 10 (MARCH10), transcript variant 1, mRNA.	22							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						CCACCTTATGCTGCATGTCCC	0.443000												
FRY	10129	broad.mit.edu	37	13	32821627	32821627	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:32821627C>T	uc001utx.3	+	47	7492	c.6996C>T	c.(6994-6996)ttC>ttT	p.F2332F	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	2332					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ACTTCCACTTCGATATTTCGG	0.393000												
FAT4	79633	broad.mit.edu	37	4	126242602	126242602	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:126242602G>A	uc003ifj.4	+	0	5036	c.5036G>A	c.(5035-5037)cGc>cAc	p.R1679H		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	1679	Cadherin 16.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACTGTTGGACGCCTCTTTACT	0.453000												
D4S234E	27065	broad.mit.edu	37	4	4419079	4419079	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:4419079C>T	uc011bvz.2	+	7	1756	c.475C>T	c.(475-477)Cgc>Tgc	p.R159C	D4S234E_uc011bwa.1_Missense_Mutation_p.R120C|D4S234E_uc003ghz.3_Missense_Mutation_p.R159C|D4S234E_uc003gia.3_Missense_Mutation_p.R159C	NM_014392	NP_055207	P42857	NSG1_HUMAN	Homo sapiens DNA segment on chromosome 4 (unique) 234 expressed sequence (D4S234E), transcript variant 1, mRNA.	159					dopamine receptor signaling pathway	Golgi membrane|integral to membrane|nucleus	dopamine receptor binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12				UCEC - Uterine corpus endometrioid carcinoma (64;0.166)		GAGCATCACGCGCTCCGTATC	0.547000												
USP13	8975	broad.mit.edu	37	3	179437789	179437789	+	Silent	SNP	G	G	A	rs148480598	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:179437789G>A	uc003fkh.3	+	6	948	c.867G>A	c.(865-867)gcG>gcA	p.A289A		NM_003940	NP_003931	Q92995	UBP13_HUMAN	Homo sapiens ubiquitin specific peptidase 13 (isopeptidase T-3) (USP13), mRNA.	289					ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			AGCACTTAGCGCATTTTGGAA	0.433000												
ZNF217	7764	broad.mit.edu	37	20	52198090	52198090	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:52198090C>T	uc002xwq.4	-	0	1618	c.1276G>A	c.(1276-1278)Gcc>Acc	p.A426T	ZNF217_uc010gij.1_Missense_Mutation_p.A418T	NM_006526	NP_006517	O75362	ZN217_HUMAN	Homo sapiens zinc finger protein 217 (ZNF217), mRNA.	426					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			TCCAGAGGGGCGGCGAGGTCA	0.637000												
SLC6A1	6529	broad.mit.edu	37	3	11067198	11067198	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:11067198A>G	uc010hdq.3	+	7	1189	c.778A>G	c.(778-780)Acg>Gcg	p.T260A		NM_003042	NP_003033	P30531	SC6A1_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 1 (SLC6A1), mRNA.	260					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)	CCGTGGAGTGACGCTGCCCGG	0.582000												
NRP1	8829	broad.mit.edu	37	10	33496560	33496560	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:33496560C>T	uc001iwx.4	-	9	2222	c.1699G>A	c.(1699-1701)Gag>Aag	p.E567K	NRP1_uc001iwv.4_Missense_Mutation_p.E567K|NRP1_uc001iwy.4_Missense_Mutation_p.E567K|NRP1_uc009xlz.3_Missense_Mutation_p.E567K|NRP1_uc001iww.4_Missense_Mutation_p.E386K|NRP1_uc001iwz.2_Missense_Mutation_p.E567K|NRP1_uc001ixa.2_Missense_Mutation_p.E567K|NRP1_uc001ixb.2_Missense_Mutation_p.E567K	NM_003873	NP_003864	O14786	NRP1_HUMAN	Homo sapiens neuropilin 1 (NRP1), transcript variant 1, mRNA.	567	F5/8 type C 2.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity	p.P566P(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	GTGGCTCTCTCGGGGTAGATC	0.493000												
LCE1F	353137	broad.mit.edu	37	1	152748933	152748933	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:152748933G>A	uc010pdv.2	+	0	86	c.86G>A	c.(85-87)tGc>tAc	p.C29Y		NM_178354	NP_848131	Q5T754	LCE1F_HUMAN	Homo sapiens late cornified envelope 1F (LCE1F), mRNA.	29	Pro-rich.				keratinization					kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			acaccgaagtgccccccaaag	0.657000												
ZNF613	79898	broad.mit.edu	37	19	52447944	52447944	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:52447944C>T	uc002pxz.2	+	5	1272	c.808C>T	c.(808-810)Cgc>Tgc	p.R270C	ZNF613_uc002pya.2_Missense_Mutation_p.R234C	NM_001031721	NP_079116	Q6PF04	ZN613_HUMAN	Homo sapiens zinc finger protein 613 (ZNF613), transcript variant 1, mRNA.	270					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		CAAAGCATTCCGCTGGAAATC	0.453000												
ABCB1	5243	broad.mit.edu	37	7	87160729	87160729	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:87160729G>A	uc003uiz.2	-	21	3059	c.2566C>T	c.(2566-2568)Caa>Taa	p.Q856*	ABCB1_uc011khc.2_Nonsense_Mutation_p.Q792*	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	856	ABC transmembrane type-1 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	Golgi membrane|apical plasma membrane|cell surface|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	AGTGTTAGTTGCCAACCATAG	0.373000												
TMC7	79905	broad.mit.edu	37	16	19070909	19070909	+	Silent	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:19070909A>G	uc002dfp.2	+	14	2329	c.2199A>G	c.(2197-2199)ttA>ttG	p.L733L	TMC7_uc002dfq.3_Intron|TMC7_uc010vap.2_Intron	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN	Homo sapiens transmembrane channel-like 7 (TMC7), transcript variant 1, mRNA.	0						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						GAGTGAAATTACTGCAGCCTT	0.512000												
CYFIP1	23191	broad.mit.edu	37	15	22997826	22997826	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:22997826C>T	uc001yus.3	+	26	3176	c.3072C>T	c.(3070-3072)caC>caT	p.H1024H	CYFIP1_uc001yut.3_Silent_p.H1024H|CYFIP1_uc001yuu.3_Silent_p.H593H|CYFIP1_uc001yuv.3_Silent_p.H218H	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 1 (CYFIP1), transcript variant 1, mRNA.	1024					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	Rac GTPase binding|actin filament binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		ACCTGCTGCACGCGGCTCCTT	0.567000												
HTRA1	5654	broad.mit.edu	37	10	124268280	124268280	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:124268280G>A	uc001lgj.2	+	5	1242	c.1114G>A	c.(1114-1116)Gcc>Acc	p.A372T		NM_002775	NP_002766	Q92743	HTRA1_HUMAN	Homo sapiens HtrA serine peptidase 1 (HTRA1), mRNA.	372	PDZ.				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				TGACCGACAGGCCAAAGGTAG	0.537000												
KIAA2018	205717	broad.mit.edu	37	3	113377816	113377816	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:113377816C>T	uc003eam.3	-	6	3124	c.2713G>A	c.(2713-2715)Gcc>Acc	p.A905T	KIAA2018_uc003eal.3_Missense_Mutation_p.A849T	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	Homo sapiens KIAA2018 (KIAA2018), mRNA.	905					regulation of transcription, DNA-dependent	membrane|nucleus	DNA binding|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	p.A905A(1)		NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TTTGCTGCGGCCATTGCAAAA	0.423000												
TAS2R3	50831	broad.mit.edu	37	7	141464395	141464395	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:141464395C>A	uc003vwp.1	+	0	499	c.437C>A	c.(436-438)gCa>gAa	p.A146E		NM_016943	NP_058639	Q9NYW6	TA2R3_HUMAN	Homo sapiens taste receptor, type 2, member 3 (TAS2R3), mRNA.	146					sensory perception of taste		taste receptor activity	p.T145T(2)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					GGTAGTACCGCATCTCTGATC	0.458000												
CBLC	23624	broad.mit.edu	37	19	45284250	45284250	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:45284250A>C	uc002ozs.3	+	1	505	c.442A>C	c.(442-444)Atg>Ctg	p.M148L	CBLC_uc010ejt.3_Missense_Mutation_p.M148L	NM_012116	NP_036248	Q9ULV8	CBLC_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence c (CBLC), transcript variant 1, mRNA.	148	Cbl-PTB.|EF-hand-like.				cell surface receptor linked signaling pathway|negative regulation of MAP kinase activity|negative regulation of epidermal growth factor receptor activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	SH3 domain binding|calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	p.M148R(1)		breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				CTGTGGACACATGTACCAGCT	0.632000			M		AML							
SLC16A14	151473	broad.mit.edu	37	2	230910799	230910799	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:230910799T>C	uc002vqd.2	-	3	1502	c.1043A>G	c.(1042-1044)gAg>gGg	p.E348G	FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.3_Missense_Mutation_p.E348G|SLC16A14_uc002vqf.3_Missense_Mutation_p.E348G	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN	Homo sapiens solute carrier family 16, member 14 (monocarboxylic acid transporter 14) (SLC16A14), mRNA.	348						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		GTCGTTTTGCTCCGATAAGTT	0.418000												
P2RY2	5029	broad.mit.edu	37	11	72945327	72945327	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:72945327C>T	uc021qna.1	+	0	123	c.123C>T	c.(121-123)ggC>ggT	p.G41G	P2RY2_uc001otk.3_Silent_p.G41G|P2RY2_uc001otj.3_Silent_p.G41G|P2RY2_uc001otl.3_Silent_p.G41G	NM_176072	NP_788086	P41231	P2RY2_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 2 (P2RY2), transcript variant 1, mRNA.	41					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	TGTCCTACGGCGTGGTGTGCG	0.582000												
MYL12B	103910	broad.mit.edu	37	18	3277382	3277382	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:3277382G>A	uc002klt.4	+	2	456	c.316G>A	c.(316-318)Gcc>Acc	p.A106T	MYL12B_uc010dkl.3_Missense_Mutation_p.A106T|MYL12B_uc010wyv.2_Missense_Mutation_p.A106T	NM_033546	NP_291024	O14950	ML12B_HUMAN	Homo sapiens myosin, light chain 12B, regulatory (MYL12B), transcript variant 2, mRNA.	106	EF-hand 2.				axon guidance|muscle contraction	cytosol|myosin complex	calcium ion binding	p.A106V(1)		breast(1)|large_intestine(1)|lung(2)	4						CATCAGAAACGCCTTTGCTTG	0.438000												
CCDC14	64770	broad.mit.edu	37	3	123633803	123633803	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:123633803G>A	uc011bjx.2	-	12	2776	c.2685C>T	c.(2683-2685)ggC>ggT	p.G895G	CCDC14_uc003egv.4_Silent_p.G536G|CCDC14_uc003egx.4_Silent_p.G695G|CCDC14_uc010hrt.3_Silent_p.G854G|CCDC14_uc003egy.4_Silent_p.G695G|CCDC14_uc003egz.2_3'UTR	NM_022757	NP_073594	Q49A88	CCD14_HUMAN	Homo sapiens coiled-coil domain containing 14 (CCDC14), mRNA.	895						centrosome				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		AGACAGTATTGCCTTTCACTT	0.458000												
C16orf70	80262	broad.mit.edu	37	16	67168349	67168349	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:67168349C>T	uc002erd.3	+	7	804	c.640C>T	c.(640-642)Cga>Tga	p.R214*	C16orf70_uc002erc.3_Nonsense_Mutation_p.R214*|C16orf70_uc002ere.1_3'UTR	NM_025187	NP_079463	Q9BSU1	CP070_HUMAN	Homo sapiens chromosome 16 open reading frame 70 (C16orf70), mRNA.	214										cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		TGCAGGTTTACGACTTCGCCT	0.507000												
MAP3K14	9020	broad.mit.edu	37	17	43351908	43351908	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:43351908G>A	uc002iiw.1	-	7	1449	c.1340C>T	c.(1339-1341)aCc>aTc	p.T447I	MAP3K14_uc002iiu.1_5'Flank|MAP3K14_uc010daj.1_Non-coding_Transcript|MAP3K14_uc002iiv.1_Missense_Mutation_p.T32I	NM_003954	NP_003945	Q99558	M3K14_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 14 (MAP3K14), mRNA.	448	Interaction with ZFP91.|Protein kinase.				I-kappaB kinase/NF-kappaB cascade|T cell costimulation|cellular response to mechanical stimulus|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TCTGGGTGAGGTCAATCCTGC	0.562000												
VSIG10	54621	broad.mit.edu	37	12	118517172	118517172	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:118517172C>T	uc001tws.3	-	3	1238	c.904G>A	c.(904-906)Gcc>Acc	p.A302T		NM_019086	NP_061959	Q8N0Z9	VSI10_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 10 (VSIG10), mRNA.	302	Ig-like C2-type 3.					integral to membrane				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						ATGCAGCTGGCGCCCGACTCT	0.522000												
CACNA1S	779	broad.mit.edu	37	1	201022696	201022696	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:201022696C>T	uc001gvv.3	-	29	3913	c.3686G>A	c.(3685-3687)cGc>cAc	p.R1229H		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	1229					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	p.R1229H(2)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GCTGGAGATGCGGGCACTCTC	0.642000												
FBXW10	10517	broad.mit.edu	37	17	18668087	18668087	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:18668087G>A	uc002gul.3	+	6	1785	c.1553G>A	c.(1552-1554)cGa>cAa	p.R518Q	FBXW10_uc002guj.3_Missense_Mutation_p.R489Q|FBXW10_uc002guk.3_Missense_Mutation_p.R489Q|FBXW10_uc010cqh.2_Missense_Mutation_p.R489Q	NM_031456	NP_113644	Q5XX13	FBW10_HUMAN	Homo sapiens F-box and WD repeat domain containing 10 (FBXW10), mRNA.	489										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						GTTTGCACACGAATCTTCGGT	0.493000												
PCDHB11	56125	broad.mit.edu	37	5	140581476	140581476	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:140581476C>T	uc003liy.3	+	0	2129	c.2129C>T	c.(2128-2130)gCg>gTg	p.A710V		NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	Homo sapiens protocadherin beta 11 (PCDHB11), mRNA.	710					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGTTCGTGGCGGTGCGGCTG	0.687000												
ANO6	196527	broad.mit.edu	37	12	45822925	45822925	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:45822925C>T	uc010slf.2	+	20	2962	c.2627C>T	c.(2626-2628)gCa>gTa	p.A876V	ANO6_uc001roo.3_Missense_Mutation_p.A855V|ANO6_uc010sld.1_Intron|ANO6_uc010sle.1_Intron|ANO6_uc010slg.2_Missense_Mutation_p.A837V	NM_001204803	NP_001191732	Q4KMQ2	ANO6_HUMAN	Homo sapiens anoctamin 6 (ANO6), transcript variant 5, mRNA.	855					activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						ATTTCATATGCAATTCCCGAT	0.388000												
DDX24	57062	broad.mit.edu	37	14	94528700	94528700	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:94528700G>A	uc001ycj.3	-	2	1085	c.986C>T	c.(985-987)gCg>gTg	p.A329V	DDX24_uc010twq.2_Missense_Mutation_p.A286V|DDX24_uc010twr.2_Missense_Mutation_p.A79V	NM_020414	NP_065147	Q9GZR7	DDX24_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 24 (DDX24), mRNA.	329	Helicase ATP-binding.				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		AAAGAGCAACGCCTGGTCTGA	0.507000												
BSPRY	54836	broad.mit.edu	37	9	116130628	116130628	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:116130628A>G	uc004bhg.4	+	4	695	c.647A>G	c.(646-648)cAa>cGa	p.Q216R	BSPRY_uc010muw.3_Intron	NM_017688	NP_060158	Q5W0U4	BSPRY_HUMAN	Homo sapiens B-box and SPRY domain containing (BSPRY), mRNA.	216	B30.2/SPRY.				calcium ion transport	cytoplasm|membrane	zinc ion binding			breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						CTACTGACCCAACTCTGGGCA	0.527000												
GDF2	2658	broad.mit.edu	37	10	48414241	48414241	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:48414241G>A	uc001jfa.1	-	1	787	c.627C>T	c.(625-627)agC>agT	p.S209S		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	Homo sapiens growth differentiation factor 2 (GDF2), mRNA.	209					BMP signaling pathway|activin receptor signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of DNA replication|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	p.S209R(2)		breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						GCTTCACGGCGCTGGACACTT	0.572000												
RNF213	57674	broad.mit.edu	37	17	78317021	78317021	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:78317021G>A	uc002jyh.2	+	27	6369	c.6226G>A	c.(6226-6228)Gac>Aac	p.D2076N	RNF213_uc021uen.1_Missense_Mutation_p.D2027N	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	SubName: Full=Uncharacterized protein;	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TCGACTGATCGACCCTCAGGT	0.507000												
ADIPOR1	51094	broad.mit.edu	37	1	202920110	202920110	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:202920110A>G	uc001gyq.4	-	1	356	c.89T>C	c.(88-90)cTg>cCg	p.L30P	ADIPOR1_uc010pqd.2_5'Flank|ADIPOR1_uc001gyr.4_5'UTR|ADIPOR1_uc001gys.4_Missense_Mutation_p.L30P	NM_015999	NP_057083	Q96A54	ADR1_HUMAN	Homo sapiens adiponectin receptor 1 (ADIPOR1), transcript variant 1, mRNA.	30					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			CAGGGGTCCCAGTTCAGCCAG	0.547000												
SACS	26278	broad.mit.edu	37	13	23942607	23942607	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:23942607C>T	uc001uon.2	-	4	868	c.279G>A	c.(277-279)acG>acA	p.T93T	SACS_uc001uoo.2_5'UTR|SACS_uc001uoq.1_5'UTR	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	93					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CAAGTGGTGGCGTTGTCTGAC	0.393000												
DDX18	8886	broad.mit.edu	37	2	118577236	118577236	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:118577236G>A	uc002tlh.1	+	2	481	c.382G>A	c.(382-384)Gca>Aca	p.A128T		NM_006773	NP_006764	Q9NVP1	DDX18_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 (DDX18), mRNA.	128							ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TACGAAAAAAGCAAAAACTGA	0.308000											OREG0003814	type=REGULATORY REGION|Gene=DDX18|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay
ADAMTS13	11093	broad.mit.edu	37	9	136319700	136319700	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:136319700G>A	uc004cdv.4	+	23	3652	c.3208G>A	c.(3208-3210)Gcc>Acc	p.A1070T	ADAMTS13_uc004cdp.4_Missense_Mutation_p.A297T|ADAMTS13_uc004cdt.1_Missense_Mutation_p.A1070T|ADAMTS13_uc004cdu.1_Missense_Mutation_p.A1039T|ADAMTS13_uc004cdw.4_Missense_Mutation_p.A1070T|ADAMTS13_uc004cdx.4_Missense_Mutation_p.A1039T|ADAMTS13_uc004cdz.4_Missense_Mutation_p.A740T|ADAMTS13_uc004cea.1_5'Flank|ADAMTS13_uc004ceb.4_5'Flank	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 13 (ADAMTS13), transcript variant 1, mRNA.	1070					cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CTGTCTCATTGCCGACTGCAC	0.677000												
MAPK10	5602	broad.mit.edu	37	4	87022260	87022260	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:87022260C>T	uc003hps.3	-	7	1361	c.675G>A	c.(673-675)gtG>gtA	p.V225V	MAPK10_uc010ikg.3_Silent_p.V187V|MAPK10_uc003hpr.3_Silent_p.V187V|MAPK10_uc003hpt.3_Silent_p.V225V|MAPK10_uc003hpu.3_Silent_p.V225V|MAPK10_uc003hpv.3_Silent_p.V80V|MAPK10_uc003hpn.3_5'Flank|MAPK10_uc011ccw.2_Silent_p.V111V|MAPK10_uc003hpo.3_Silent_p.V80V|MAPK10_uc003hpp.3_Silent_p.V80V	NM_138982	NP_620446	P53779	MK10_HUMAN	Homo sapiens mitogen-activated protein kinase 10 (MAPK10), transcript variant 2, mRNA.	225	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		AATAACGTGTCACCACATATG	0.488000												
ITIH4	3700	broad.mit.edu	37	3	52860646	52860646	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:52860646G>A	uc011bem.2	-	4	569	c.541C>T	c.(541-543)Ccc>Tcc	p.P181S	ITIH4_uc011bel.2_5'Flank|ITIH4_uc003dfy.3_Missense_Mutation_p.P57S|ITIH4_uc003dfz.3_Missense_Mutation_p.P181S|ITIH4_uc011ben.2_Missense_Mutation_p.P181S	NM_002218	NP_002209	Q14624	ITIH4_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 4 (ITIH4), transcript variant 1, mRNA.	181					acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.P181L(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		ATGCCCTGGGGCTCGAAGATG	0.597000												
LDLRAD3	143458	broad.mit.edu	37	11	36250736	36250736	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:36250736C>T	uc001mwk.1	+	5	864	c.827C>T	c.(826-828)cCg>cTg	p.P276L	LDLRAD3_uc010rey.1_Missense_Mutation_p.P227L|LDLRAD3_uc010rez.1_Missense_Mutation_p.P155L|LDLRAD3_uc010rfa.1_Non-coding_Transcript	NM_174902	NP_777562	Q86YD5	LRAD3_HUMAN	Homo sapiens low density lipoprotein receptor class A domain containing 3 (LDLRAD3), mRNA.	276	Poly-Pro.					integral to membrane	receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				CTTCCTCCACCGCCCTACTCT	0.617000												
P4HA2	8974	broad.mit.edu	37	5	131534590	131534590	+	Silent	SNP	C	C	T	rs141851075		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:131534590C>T	uc003kwh.3	-	10	1851	c.1287G>A	c.(1285-1287)ccG>ccA	p.P429P	P4HA2_uc003kwg.3_Silent_p.P429P|P4HA2_uc003kwi.3_Silent_p.P429P|P4HA2_uc003kwk.3_Silent_p.P429P|P4HA2_uc003kwl.3_Silent_p.P429P|P4HA2_uc003kwj.3_Silent_p.P429P	NM_004199	NP_004190	O15460	P4HA2_HUMAN	Homo sapiens prolyl 4-hydroxylase, alpha polypeptide II (P4HA2), transcript variant 1, mRNA.	429	Fe2OG dioxygenase.					endoplasmic reticulum lumen	L-ascorbic acid binding|electron carrier activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	AGTCGAAGTGCGGTTCATACT	0.483000												
SLC38A1	81539	broad.mit.edu	37	12	46598370	46598370	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:46598370T>C	uc009zkj.1	-	9	1335	c.650A>G	c.(649-651)tAt>tGt	p.Y217C	SLC38A1_uc001rpb.3_Missense_Mutation_p.Y217C|SLC38A1_uc001rpc.3_Missense_Mutation_p.Y217C|SLC38A1_uc001rpd.3_Missense_Mutation_p.Y217C|SLC38A1_uc001rpe.3_Missense_Mutation_p.Y217C|SLC38A1_uc010slh.2_Missense_Mutation_p.Y190C|SLC38A1_uc001rpa.3_Missense_Mutation_p.Y217C	NM_030674	NP_109599	Q9H2H9	S38A1_HUMAN	Homo sapiens solute carrier family 38, member 1 (SLC38A1), transcript variant 1, mRNA.	217					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			ATAGCCAAGATACCCtttaaa	0.284000												
RGS9	8787	broad.mit.edu	37	17	63221135	63221135	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:63221135G>T	uc002jfe.3	+	17	1626	c.1423G>T	c.(1423-1425)Gct>Tct	p.A475S	RGS9_uc010dem.3_Missense_Mutation_p.A472S|RGS9_uc002jfd.3_Missense_Mutation_p.A472S|RGS9_uc002jfg.3_Missense_Mutation_p.A246S	NM_003835	NP_003826	O75916	RGS9_HUMAN	Homo sapiens regulator of G-protein signaling 9 (RGS9), transcript variant 1, mRNA.	475					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						CCAGCACATGGCTCCCAGCCC	0.642000												
SENP2	59343	broad.mit.edu	37	3	185347619	185347619	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:185347619A>C	uc003fpn.3	+	16	1928	c.1757A>C	c.(1756-1758)cAg>cCg	p.Q586P	SENP2_uc011brv.2_Missense_Mutation_p.Q576P|SENP2_uc011brw.2_Missense_Mutation_p.Q399P	NM_021627	NP_067640	Q9HC62	SENP2_HUMAN	Homo sapiens SUMO1/sentrin/SMT3 specific peptidase 2 (SENP2), mRNA.	586					Wnt receptor signaling pathway|mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	SUMO-specific protease activity|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			ATCCTTCATCAGCAGTTGCTG	0.468000												
NPHP3	27031	broad.mit.edu	37	3	132403466	132403466	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:132403466C>T	uc003epe.2	-	23	3606	c.3502G>A	c.(3502-3504)Gca>Aca	p.A1168T	NPHP3_uc003eoz.1_Missense_Mutation_p.A47T|NPHP3_uc003epd.2_Missense_Mutation_p.A410T	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN	Homo sapiens nephronophthisis 3 (adolescent) (NPHP3), mRNA.	1168					Wnt receptor signaling pathway|maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GGAGCTAATGCACGTCTCCGA	0.368000												
SCRN2	90507	broad.mit.edu	37	17	45915694	45915694	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:45915694C>T	uc002imd.3	-	6	1187	c.1061G>A	c.(1060-1062)cGt>cAt	p.R354H	SCRN2_uc002imf.3_Missense_Mutation_p.R354H	NM_138355	NP_612364	Q96FV2	SCRN2_HUMAN	Homo sapiens secernin 2 (SCRN2), transcript variant 1, mRNA.	354					proteolysis		dipeptidase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						GGTATGCCGACGATCTACCTG	0.622000												
ACTA1	58	broad.mit.edu	37	1	229568586	229568586	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:229568586G>A	uc001htm.3	-	2	276	c.171C>T	c.(169-171)ggC>ggT	p.G57G		NM_001100	NP_001091	P68133	ACTS_HUMAN	Homo sapiens actin, alpha 1, skeletal muscle (ACTA1), mRNA.	57					muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	GAGCCTCGTCGCCCACGTAGG	0.592000												
TARS	6897	broad.mit.edu	37	5	33453456	33453456	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:33453456G>A	uc003jhy.3	+	3	687	c.392G>A	c.(391-393)cGc>cAc	p.R131H	TARS_uc010iup.1_Missense_Mutation_p.R72H|TARS_uc011coc.2_Missense_Mutation_p.R152H|TARS_uc003jhz.3_Missense_Mutation_p.R27H|TARS_uc011cod.2_Intron	NM_152295	NP_689508	P26639	SYTC_HUMAN	Homo sapiens threonyl-tRNA synthetase (TARS), mRNA.	131					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity	p.R131H(4)		NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	GACCTGGACCGCCCTCTGGAA	0.393000												
PRICKLE2	166336	broad.mit.edu	37	3	64084813	64084813	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:64084813C>A	uc003dmf.3	-	7	3035	c.2449G>T	c.(2449-2451)Ggc>Tgc	p.G817C		NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN	Homo sapiens prickle homolog 2 (Drosophila) (PRICKLE2), mRNA.	817						cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		TTGGGGAGGCCGTAGGAGCTG	0.502000												
LHX2	9355	broad.mit.edu	37	9	126777465	126777465	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:126777465C>T	uc010mwi.1	+	2	1151	c.412C>T	c.(412-414)Cgc>Tgc	p.R138C	LHX2_uc004boe.1_Missense_Mutation_p.R130C	NM_004789	NP_004780	P50458	LHX2_HUMAN	Homo sapiens LIM homeobox 2 (LHX2), mRNA.	130	LIM zinc-binding 2.					nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)	10						GATGGTGATGCGCGCTCGGGA	0.622000												
GRM7	2917	broad.mit.edu	37	3	7188283	7188283	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:7188283T>C	uc003bqm.2	+	1	938	c.664T>C	c.(664-666)Tct>Cct	p.S222P	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Missense_Mutation_p.S222P|GRM7_uc003bql.2_Missense_Mutation_p.S222P	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	222					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	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|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)	GAATTATGTGTCTACCCTCGC	0.522000												
CUL5	8065	broad.mit.edu	37	11	107920682	107920682	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:107920682C>A	uc001pjv.3	+	3	967	c.300C>A	c.(298-300)ttC>ttA	p.F100L	CUL5_uc001pju.3_Non-coding_Transcript	NM_003478	NP_003469	Q93034	CUL5_HUMAN	Homo sapiens cullin 5 (CUL5), mRNA.	100					G1/S transition of mitotic cell cycle|cell cycle arrest|cell proliferation|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		GGCGAAAGTTCTTTACACAAT	0.338000												
PCK2	5106	broad.mit.edu	37	14	24572751	24572751	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:24572751C>T	uc001wlt.3	+	9	1633	c.1501C>T	c.(1501-1503)Cgg>Tgg	p.R501W	NRL_uc001wlq.3_Intron|PCK2_uc010tnw.2_Missense_Mutation_p.R367W|PCK2_uc010tnx.2_Missense_Mutation_p.R367W|PCK2_uc001wlu.4_Missense_Mutation_p.R335W	NM_004563	NP_004554	Q16822	PCKGM_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 2 (mitochondrial) (PCK2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	501					gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		ATTTGCCATGCGGCCCTTTTT	0.577000												
ABCA8	10351	broad.mit.edu	37	17	66864467	66864467	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:66864467C>T	uc002jhq.3	-	38	5082	c.4742G>A	c.(4741-4743)aGc>aAc	p.S1581N	ABCA8_uc002jhp.3_Missense_Mutation_p.S1541N|ABCA8_uc010wqq.2_Missense_Mutation_p.S1576N	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	1541						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)					CTGTGAGAGGCTGTACTCCTC	0.418000												
SYNC	81493	broad.mit.edu	37	1	33160998	33160998	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:33160998C>T	uc001bvt.2	-	1	801	c.701G>A	c.(700-702)gGc>gAc	p.G234D	SYNC_uc010ohl.1_Missense_Mutation_p.G234D	NM_030786	NP_110413	Q9H7C4	SYNCI_HUMAN	Homo sapiens syncoilin, intermediate filament protein (SYNC), transcript variant 1, mRNA.	234	Coil 1b.					intermediate filament|perinuclear region of cytoplasm	structural molecule activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						CTCCCTTAGGCCATCTCTCTC	0.562000												
MEGF11	84465	broad.mit.edu	37	15	66416298	66416298	+	Missense_Mutation	SNP	C	C	T	rs142845610	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:66416298C>T	uc002apm.2	-	2	280	c.139G>A	c.(139-141)Gat>Aat	p.D47N	MEGF11_uc002apl.2_Silent_p.S5S|MEGF11_uc002apn.1_Missense_Mutation_p.D47N	NM_032445	NP_115821	A6BM72	MEG11_HUMAN	Homo sapiens multiple EGF-like-domains 11 (MEGF11), mRNA.	47	EMI.					basolateral plasma membrane|integral to membrane				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						TAGATCTGATCGAAGGGGTGT	0.507000												
H6PD	9563	broad.mit.edu	37	1	9324910	9324910	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:9324910C>T	uc001apt.3	+	4	2631	c.2358C>T	c.(2356-2358)taC>taT	p.Y786Y		NM_004285	NP_004276	O95479	G6PE_HUMAN	Homo sapiens hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) (H6PD), mRNA.	786	6-phosphogluconolactonase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|NADP binding|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	ACATGGACTACGACGCCTTCC	0.667000												
FZD10	11211	broad.mit.edu	37	12	130647640	130647640	+	Silent	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:130647640T>C	uc001uii.3	+	0	637	c.153T>C	c.(151-153)cgT>cgC	p.R51R	FLJ31485_uc001uig.2_5'Flank|FLJ31485_uc001uih.2_5'Flank	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN	Homo sapiens frizzled family receptor 10 (FZD10), mRNA.	51	FZ.				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		ACATGACTCGTATGCCCAACC	0.647000												
NADK	65220	broad.mit.edu	37	1	1693452	1693452	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:1693452G>A	uc001aic.3	-	2	424	c.202C>T	c.(202-204)Cca>Tca	p.P68S	NADK_uc001aid.4_Missense_Mutation_p.P68S|NADK_uc001aie.3_Missense_Mutation_p.P68S|NADK_uc009vkx.1_5'UTR	NM_023018	NP_075394	O95544	NADK_HUMAN	Homo sapiens NAD kinase (NADK), transcript variant 1, mRNA.	68					ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|NAD+ kinase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		ACCGGGCATGGCCCATGAAGA	0.602000												
ADCY1	107	broad.mit.edu	37	7	45662269	45662269	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:45662269C>T	uc003tne.4	+	3	965	c.947C>T	c.(946-948)gCa>gTa	p.A316V	ADCY1_uc003tnd.3_Missense_Mutation_p.A91V	NM_021116	NP_066939	Q08828	ADCY1_HUMAN	Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	316					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	ACGGGCTTGGCATCCCAGTGC	0.527000												
PCDHB9	56127	broad.mit.edu	37	5	140568423	140568423	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:140568423G>A	uc003liw.1	+	1	1529	c.1529G>A	c.(1528-1530)gGc>gAc	p.G510D		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	Homo sapiens protocadherin beta 9 (PCDHB9), mRNA.	511	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding							KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGGACAATGGCCACCTGTTT	0.672000												
HIC2	23119	broad.mit.edu	37	22	21800560	21800560	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:21800560C>T	uc002zur.4	+	2	1606	c.1376C>T	c.(1375-1377)gCg>gTg	p.A459V	HIC2_uc002zus.4_Missense_Mutation_p.A459V	NM_015094	NP_055909	Q96JB3	HIC2_HUMAN	Homo sapiens hypermethylated in cancer 2 (HIC2), mRNA.	459					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				CAGCTCAATGCGCACGTGGAG	0.612000												
SLC18A1	6570	broad.mit.edu	37	8	20008198	20008198	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:20008198A>G	uc011kyq.2	-	11	1544	c.1073T>C	c.(1072-1074)gTg>gCg	p.V358A	SLC18A1_uc003wzm.3_Missense_Mutation_p.V358A|SLC18A1_uc011kyr.2_Missense_Mutation_p.V358A|SLC18A1_uc003wzn.3_Missense_Mutation_p.V326A|SLC18A1_uc010ltf.3_Non-coding_Transcript	NM_001135691	NP_003044	P54219	VMAT1_HUMAN	Homo sapiens solute carrier family 18 (vesicular monoamine), member 1 (SLC18A1), transcript variant 1, mRNA.	358					neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)		GTTGGCCAACACACCAAAGAG	0.493000												
OR51A4	401666	broad.mit.edu	37	11	4967774	4967774	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:4967774A>G	uc010qys.2	-	0	557	c.557T>C	c.(556-558)gTc>gCc	p.V186A		NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 4 (OR51A4), mRNA.	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAACTTCATGACATCCTGGTG	0.408000												
RALGAPA2	57186	broad.mit.edu	37	20	20552181	20552181	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:20552181C>T	uc002wrz.3	-	22	3220	c.3077G>A	c.(3076-3078)cGc>cAc	p.R1026H	RALGAPA2_uc002wry.3_Missense_Mutation_p.R641H|RALGAPA2_uc010zsg.2_Missense_Mutation_p.R474H	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA.	1026					activation of Ral GTPase activity	cytosol|nucleus	Ral GTPase activator activity|protein heterodimerization activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						AACGTCCTGGCGTCTGGTCAT	0.483000												
MFAP3L	9848	broad.mit.edu	37	4	170913308	170913308	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:170913308C>T	uc003isp.4	-	2	629	c.451G>A	c.(451-453)Gtc>Atc	p.V151I	MFAP3L_uc003isn.4_Missense_Mutation_p.V48I|MFAP3L_uc021xuj.1_Missense_Mutation_p.V48I	NM_021647	NP_001009554	O75121	MFA3L_HUMAN	Homo sapiens microfibrillar-associated protein 3-like (MFAP3L), transcript variant 1, mRNA.	151						integral to membrane|plasma membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		ATGTAGTAGACACCCATGTCT	0.517000												
FKBP4	2288	broad.mit.edu	37	12	2907922	2907922	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:2907922C>T	uc001qkz.3	+	3	642	c.444C>T	c.(442-444)ggC>ggT	p.G148G		NM_002014	NP_002005	Q02790	FKBP4_HUMAN	Homo sapiens FK506 binding protein 4, 59kDa (FKBP4), mRNA.	148					negative regulation of microtubule polymerization or depolymerization|negative regulation of neuron projection development|protein folding	axonal growth cone|cytosol|membrane|microtubule|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity|protein binding, bridging	p.G148G(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)		Dimethyl sulfoxide(DB01093)	AGGAAGATGGCGGAATCATTC	0.498000												
DPP4	1803	broad.mit.edu	37	2	162891760	162891760	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:162891760C>T	uc002ubz.3	-	8	1249	c.688G>A	c.(688-690)Gac>Aac	p.D230N	DPP4_uc010fpb.3_5'UTR	NM_001935	NP_001926	P27487	DPP4_HUMAN	Homo sapiens dipeptidyl-peptidase 4 (DPP4), mRNA.	230					T cell activation|T cell costimulation|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	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)	ACTTCTGTGTCGTTAAATTGG	0.443000												
BRCA2	675	broad.mit.edu	37	13	32912807	32912807	+	Missense_Mutation	SNP	G	G	A	rs80358666		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:32912807G>A	uc001uub.1	+	10	4542	c.4315G>A	c.(4315-4317)Gcc>Acc	p.A1439T		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	1439					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TATTAGTGTCGCCAAAGAGTC	0.289000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)		
OR2H1	26716	broad.mit.edu	37	6	29430238	29430238	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:29430238C>A	uc003nmi.3	+	2	1135	c.692C>A	c.(691-693)gCa>gAa	p.A231E	OR2H1_uc003nmj.1_Missense_Mutation_p.A231E|OR2H1_uc010jri.2_Missense_Mutation_p.A153E|OR2H1_uc021ytr.1_Missense_Mutation_p.A231E	NM_030883	NP_112145	Q9GZK4	OR2H1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily H, member 1 (OR2H1), mRNA.	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(12)	17						TCTGCCACAGCATGGAGAAAG	0.542000												
VIM	7431	broad.mit.edu	37	10	17277251	17277251	+	Silent	SNP	C	C	T	rs116696668	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:17277251C>T	uc001iou.2	+	6	1505	c.1092C>T	c.(1090-1092)cgC>cgT	p.R364R		NM_003380	NP_003371	P08670	VIME_HUMAN	Homo sapiens vimentin (VIM), mRNA.	364	Coil 2.|Rod.				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTATTGGCCGCCTGCAGGATG	0.483000												
C11orf2	738	broad.mit.edu	37	11	64876893	64876893	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:64876893C>T	uc001ocr.1	+	5	1625	c.1585C>T	c.(1585-1587)Cgc>Tgc	p.R529C	TM7SF2_uc001oct.3_5'Flank|TM7SF2_uc010rny.2_5'Flank|TM7SF2_uc001ocu.3_5'Flank|TM7SF2_uc001ocv.3_5'Flank|C11orf2_uc001ocs.1_Missense_Mutation_p.R405C	NM_013265	NP_037397	Q9UID3	FFR_HUMAN	Homo sapiens chromosome 11 open reading frame 2 (C11orf2), mRNA.	529					lipid transport|protein transport	Golgi apparatus|integral to membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)	15						GCTGCTCTCCCGCCTCTGCCT	0.617000												
SLC22A8	9376	broad.mit.edu	37	11	62766535	62766535	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:62766535G>A	uc009yon.3	-	4	740	c.619C>T	c.(619-621)Cgg>Tgg	p.R207W	SLC22A8_uc001nwn.1_5'UTR|SLC22A8_uc009yom.3_Missense_Mutation_p.R84W|SLC22A8_uc001nwo.3_Missense_Mutation_p.R207W|SLC22A8_uc010rmm.2_Missense_Mutation_p.R116W|SLC22A8_uc001nwp.2_Missense_Mutation_p.R207W	NM_001184732	NP_001171665	Q8TCC7	S22A8_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 8 (SLC22A8), transcript variant 2, mRNA.	207					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						ATGATGGCCCGCATCCGGGTA	0.612000												
PDE4DIP	9659	broad.mit.edu	37	1	144916600	144916600	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:144916600C>T	uc021ouh.1	-	12	2057	c.1755G>A	c.(1753-1755)acG>acA	p.T585T	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Silent_p.T585T|PDE4DIP_uc001elx.4_Silent_p.T651T|PDE4DIP_uc001emd.2_Silent_p.T585T|PDE4DIP_uc001emc.2_Silent_p.T585T|PDE4DIP_uc001emb.1_Silent_p.T748T|PDE4DIP_uc001eme.1_Silent_p.T114T	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	585					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CATGAAGAGACGTCTGTAACT	0.418000			T	PDGFRB	MPD							
PYROXD1	79912	broad.mit.edu	37	12	21614991	21614991	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:21614991C>T	uc001rew.3	+	8	1057	c.930C>T	c.(928-930)tgC>tgT	p.C310C	PYROXD1_uc009ziq.3_Silent_p.C51C	NM_024854	NP_079130	Q8WU10	PYRD1_HUMAN	Homo sapiens pyridine nucleotide-disulphide oxidoreductase domain 1 (PYROXD1), mRNA.	310							oxidoreductase activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|soft_tissue(1)	18						TATATGGCTGCGATTTCATTG	0.343000												
HELB	92797	broad.mit.edu	37	12	66703905	66703905	+	Silent	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:66703905T>C	uc001sti.2	+	3	1225	c.1197T>C	c.(1195-1197)gaT>gaC	p.D399D	HELB_uc010ssz.1_Non-coding_Transcript|HELB_uc009zqt.1_Non-coding_Transcript	NM_033647	NP_387467	Q8NG08	HELB_HUMAN	Homo sapiens helicase (DNA) B (HELB), mRNA.	399					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity	p.D399Y(1)|p.D399N(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		ATTCAAGCGATGATGCATTGA	0.418000												
FAHD2A	51011	broad.mit.edu	37	2	96072853	96072853	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:96072853C>T	uc002sur.3	+	2	589	c.410C>T	c.(409-411)gCc>gTc	p.A137V		NM_016044	NP_057128	Q96GK7	FAH2A_HUMAN	Homo sapiens fumarylacetoacetate hydrolase domain containing 2A (FAHD2A), mRNA.	137							hydrolase activity|metal ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	8						AGCAAGTTTGCCAGCTCCATC	0.577000												
SH3TC1	54436	broad.mit.edu	37	4	8233879	8233879	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:8233879G>A	uc003gkv.4	+	12	3228	c.3127G>A	c.(3127-3129)Gag>Aag	p.E1043K	SH3TC1_uc003gkw.4_Missense_Mutation_p.E967K|SH3TC1_uc003gkx.4_Non-coding_Transcript|SH3TC1_uc003gky.3_Non-coding_Transcript	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 1 (SH3TC1), mRNA.	1043							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CCTGGGCACCGAGCGGTGAGG	0.726000												
OLFML2B	25903	broad.mit.edu	37	1	161967927	161967927	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:161967927G>A	uc010pkq.2	-	5	1589	c.1165C>T	c.(1165-1167)Cat>Tat	p.H389Y	OLFML2B_uc001gbu.3_Missense_Mutation_p.H388Y	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	Homo sapiens olfactomedin-like 2B (OLFML2B), mRNA.	388										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			ACTGAGGCATGGTTGGCGATG	0.607000												
PCM1	5108	broad.mit.edu	37	8	17824576	17824576	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:17824576G>A	uc022asj.1	+	19	3448	c.3426G>A	c.(3424-3426)tcG>tcA	p.S1142S	PCM1_uc003wyi.4_Silent_p.S1103S|PCM1_uc011kyh.2_Silent_p.S1103S|PCM1_uc003wyj.4_Silent_p.S1104S	NM_006197	NP_006188	Q15154	PCM1_HUMAN	Homo sapiens pericentriolar material 1 (PCM1), mRNA.	1103					G2/M transition of mitotic cell cycle|centrosome organization|cilium assembly|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		GTAGTGCATCGCACCCTCCTT	0.403000			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""							
RPTOR	57521	broad.mit.edu	37	17	78923244	78923244	+	Splice_Site	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:78923244C>T	uc002jyt.1	+	28	4071	c.3266_splice	c.e28-1	p.D1089_splice	RPTOR_uc010wug.1_Splice_Site_p.D931_splice|RPTOR_uc002jyu.1_5'UTR	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN	Homo sapiens regulatory associated protein of MTOR, complex 1 (RPTOR), transcript variant 1, mRNA.	1089					TOR signaling cascade|cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of TOR signaling cascade|positive regulation of protein serine/threonine kinase activity	TORC1 complex|cytosol|lysosome	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						CCTCCCCAGACGATGGTGCCA	0.597000												
NIPBL	25836	broad.mit.edu	37	5	37006526	37006526	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:37006526C>T	uc003jkl.4	+	16	4422	c.3923C>T	c.(3922-3924)gCg>gTg	p.A1308V	NIPBL_uc003jkk.4_Missense_Mutation_p.A1308V	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.	1308					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	p.A1308A(1)		autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ACAAAATCAGCGGATGCTTGT	0.338000												
COL24A1	255631	broad.mit.edu	37	1	86590944	86590944	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:86590944C>T	uc001dlj.3	-	2	1150	c.1075G>A	c.(1075-1077)Gca>Aca	p.A359T	COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_5'UTR|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript|COL24A1_uc009wcq.3_Missense_Mutation_p.A359T	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.	359					cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TTCATTTTTGCCTCACTGATG	0.403000												
JAG2	3714	broad.mit.edu	37	14	105618517	105618517	+	Silent	SNP	G	G	A	rs138120492		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:105618517G>A	uc001yqg.3	-	5	1304	c.900C>T	c.(898-900)ggC>ggT	p.G300G	JAG2_uc001yqf.3_5'Flank|JAG2_uc001yqh.3_Silent_p.G300G	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	Homo sapiens jagged 2 (JAG2), transcript variant 1, mRNA.	300	EGF-like 2; atypical.				Notch receptor processing|Notch signaling pathway|auditory receptor cell fate commitment|cell communication|cell cycle|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	Notch binding|calcium ion binding|growth factor activity			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		AGAGCAGGCCGCCCCAGTTGG	0.642000												
ASH1L	55870	broad.mit.edu	37	1	155317653	155317653	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:155317653G>A	uc009wqq.3	-	19	8092	c.7612C>T	c.(7612-7614)Cgt>Tgt	p.R2538C	ASH1L_uc001fkt.3_Missense_Mutation_p.R2533C|ASH1L_uc021pay.1_5'Flank	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	2538					DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|chromosome|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TTTCGTAGACGACAAACATCT	0.453000												
TRPV1	7442	broad.mit.edu	37	17	3489183	3489183	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:3489183C>T	uc010vro.2	-	7	1328	c.1295G>A	c.(1294-1296)cGa>cAa	p.R432Q	TRPV1_uc010vrp.2_Missense_Mutation_p.R361Q|TRPV1_uc010vrq.2_Missense_Mutation_p.R419Q|TRPV1_uc010vrr.2_Missense_Mutation_p.R421Q|TRPV1_uc010vrs.2_Missense_Mutation_p.R421Q|TRPV1_uc010vrt.2_Missense_Mutation_p.R421Q|TRPV1_uc010vru.2_Missense_Mutation_p.R421Q	NM_080706	NP_542437	Q8NER1	TRPV1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 1 (TRPV1), transcript variant 3, mRNA.	421					cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	CTGCAGGAGTCGGTTCAGCGG	0.567000												
ZDHHC8	29801	broad.mit.edu	37	22	20128442	20128442	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:20128442G>A	uc002zrr.2	+	6	908	c.801G>A	c.(799-801)ccG>ccA	p.P267P	ZDHHC8_uc002zrq.3_Silent_p.P267P|ZDHHC8_uc010gsa.3_Silent_p.P73P	NM_001185024	NP_001171953	Q9ULC8	ZDHC8_HUMAN	Homo sapiens zinc finger, DHHC-type containing 8 (ZDHHC8), transcript variant 1, mRNA.	267						cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					GTTTGAAGCCGCCTTTCCTTA	0.637000												
MYO1D	4642	broad.mit.edu	37	17	31087608	31087608	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:31087608C>T	uc002hho.1	-	8	1085	c.1073G>A	c.(1072-1074)cGc>cAc	p.R358H	MYO1D_uc002hhp.1_Missense_Mutation_p.R358H|MYO1D_uc010wcb.2_Missense_Mutation_p.R358H	NM_015194	NP_056009	O94832	MYO1D_HUMAN	Homo sapiens myosin ID (MYO1D), mRNA.	358	Myosin head-like.					myosin complex	ATP binding|actin binding|calmodulin binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			ATCATTGATGCGAGTAACGAT	0.383000												
FBN1	2200	broad.mit.edu	37	15	48791196	48791196	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:48791196G>A	uc001zwx.2	-	17	2548	c.2153C>T	c.(2152-2154)aCg>aTg	p.T718M		NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	718					heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GCCTGCTGACGTCATTCCTGG	0.458000												
VPS13B	157680	broad.mit.edu	37	8	100866085	100866085	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:100866085A>G	uc003yiv.3	+	55	10654	c.10543A>G	c.(10543-10545)Atc>Gtc	p.I3515V	VPS13B_uc003yiw.3_Missense_Mutation_p.I3490V	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	3515					protein transport			p.S3514N(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AGGCAAGAGCATCCTCTGTGA	0.358000												
GABPB2	126626	broad.mit.edu	37	1	151076045	151076045	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:151076045C>T	uc001ewr.2	+	5	961	c.630C>T	c.(628-630)ccC>ccT	p.P210P	GABPB2_uc010pcp.1_Silent_p.P226P|GABPB2_uc001ewt.2_Intron	NM_144618	NP_653219	Q8TAK5	GABP2_HUMAN	Homo sapiens GA binding protein transcription factor, beta subunit 2 (GABPB2), mRNA.	210					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	protein heterodimerization activity|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7)	15				all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662)		TAGGTGACCCCCATGCCTCAA	0.433000												
CSRNP3	80034	broad.mit.edu	37	2	166514297	166514297	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:166514297C>T	uc002udf.3	+	4	551	c.175C>T	c.(175-177)Cga>Tga	p.R59*	CSRNP3_uc002udg.3_Nonsense_Mutation_p.R59*	NM_001172173	NP_079245	Q8WYN3	CSRN3_HUMAN	Homo sapiens cysteine-serine-rich nuclear protein 3 (CSRNP3), transcript variant 1, mRNA.	59					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						AAGGGAGAAACGACTGAGGAC	0.468000												
NBPF1	55672	broad.mit.edu	37	1	16901707	16901707	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:16901707C>T	uc009vos.1	-	19	3025	c.2137G>A	c.(2137-2139)Gat>Aat	p.D713N	NBPF1_uc009vot.1_Missense_Mutation_p.D171N|NBPF1_uc001ayz.1_Missense_Mutation_p.D171N|NBPF1_uc010oce.1_Missense_Mutation_p.D442N	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	713	NBPF 3.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		ACATCTTCATCGTCATCGTTG	0.433000												
PCGF5	84333	broad.mit.edu	37	10	93024260	93024260	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:93024260C>T	uc001khi.3	+	7	1054	c.646C>T	c.(646-648)Cga>Tga	p.R216*	PCGF5_uc001khh.3_Nonsense_Mutation_p.R216*|PCGF5_uc010qnk.2_Nonsense_Mutation_p.R216*	NM_032373	NP_115749	Q86SE9	PCGF5_HUMAN	Homo sapiens polycomb group ring finger 5 (PCGF5), mRNA.	216					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex|centrosome	zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)	12						GACAAGATGGCGACTAAGAGG	0.294000												
SELO	83642	broad.mit.edu	37	22	50647109	50647109	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:50647109C>T	uc021wry.1	+	2	961	c.903C>T	c.(901-903)agC>agT	p.S301S	SELO_uc010hap.3_Silent_p.S112S|SELO_uc003bjy.3_5'UTR	NM_031454		Q9BVL4	SELO_HUMAN	Homo sapiens selenoprotein O (SELO), mRNA.	301													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)		CTCATGCCAGCGACAGCGTGC	0.632000												
C12orf51	283450	broad.mit.edu	37	12	112632704	112632704	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:112632704C>T	uc021reb.1	-	55	8728	c.8332G>A	c.(8332-8334)Gca>Aca	p.A2778T		NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						AGAGGAGGTGCGAGGAGCTGA	0.582000												
PTPRF	5792	broad.mit.edu	37	1	44086246	44086246	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:44086246C>T	uc001cjr.3	+	30	5700	c.5360C>T	c.(5359-5361)gCc>gTc	p.A1787V	PTPRF_uc001cjs.3_Missense_Mutation_p.A1778V|PTPRF_uc001cju.3_Missense_Mutation_p.A1176V|PTPRF_uc009vwt.3_Missense_Mutation_p.A1347V|PTPRF_uc001cjv.3_Missense_Mutation_p.A1258V|PTPRF_uc001cjw.3_Missense_Mutation_p.A1013V	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	1787	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GTCACGGATGCCCGGGTGAGT	0.547000												
MYCBP2	23077	broad.mit.edu	37	13	77642784	77642784	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:77642784G>A	uc021rks.1	-	69	12354	c.12087C>T	c.(12085-12087)ggC>ggT	p.G4029G	MYCBP2_uc010aev.3_Silent_p.G3395G|MYCBP2_uc001vke.3_Silent_p.G608G	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	3991					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GATATTGCCGGCCAACGTTAG	0.493000												
IP6K1	9807	broad.mit.edu	37	3	49785329	49785329	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:49785329T>C	uc021wyl.1	-	1	798	c.145A>G	c.(145-147)Aag>Gag	p.K49E	IP6K1_uc003cxm.1_Missense_Mutation_p.K49E|IP6K1_uc003cxn.1_Intron	NM_001242829	NP_001229758	Q92551	IP6K1_HUMAN	Homo sapiens inositol hexakisphosphate kinase 1 (IP6K1), transcript variant 3, mRNA.	49					phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	15						ATGAGGGGCTTGCACACAGTG	0.562000												
SEMA6A	57556	broad.mit.edu	37	5	115783256	115783256	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:115783256C>A	uc003krx.4	-	19	2906	c.2197G>T	c.(2197-2199)Gac>Tac	p.D733Y	SEMA6A_uc010jck.3_Missense_Mutation_p.D716Y|SEMA6A_uc011cwe.2_Missense_Mutation_p.D95Y|SEMA6A_uc003krv.4_Missense_Mutation_p.D143Y|SEMA6A_uc003krw.4_Missense_Mutation_p.D193Y|SEMA6A_uc010jcj.3_Missense_Mutation_p.D260Y	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A (SEMA6A), mRNA.	716					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		GGCTTTGGGTCTTTGGATTGA	0.612000												
PPP2CB	5516	broad.mit.edu	37	8	30651531	30651531	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:30651531G>A	uc003xik.3	-	4	1055	c.640C>T	c.(640-642)Cgt>Tgt	p.R214C		NM_001009552	NP_001009552	P62714	PP2AB_HUMAN	Homo sapiens protein phosphatase 2, catalytic subunit, beta isozyme (PPP2CB), mRNA.	214					protein dephosphorylation	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex|spindle pole	metal ion binding			breast(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	9				KIRC - Kidney renal clear cell carcinoma(542;0.095)|Kidney(114;0.114)	Vitamin E(DB00163)	CCAGCACCACGTGGTGAAATA	0.448000												
SLC2A12	154091	broad.mit.edu	37	6	134350436	134350436	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:134350436A>G	uc003qem.1	-	1	698	c.527T>C	c.(526-528)gTc>gCc	p.V176A		NM_145176	NP_660159	Q8TD20	GTR12_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 12 (SLC2A12), mRNA.	176						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		AATGCCGATGACAATCATCAG	0.438000												
RET	5979	broad.mit.edu	37	10	43606686	43606686	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:43606686C>T	uc001jal.3	+	6	1485	c.1295C>T	c.(1294-1296)gCa>gTa	p.A432V	RET_uc001jak.1_Missense_Mutation_p.A432V|RET_uc010qez.1_Missense_Mutation_p.A178V	NM_020975	NP_066124	P07949	RET_HUMAN	Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA.	432			A -> E (in CCHS).		homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	AACTGCCAGGCATTCAGTGGC	0.592000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma			
NLRP4	147945	broad.mit.edu	37	19	56369066	56369066	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:56369066G>A	uc002qmd.4	+	2	729	c.307G>A	c.(307-309)Gca>Aca	p.A103T	NLRP4_uc002qmf.3_Missense_Mutation_p.A28T|NLRP4_uc010etf.3_5'UTR	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	103							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TCAAGCTCACGCAAAGCAGAA	0.428000												
DHX33	56919	broad.mit.edu	37	17	5364373	5364373	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:5364373G>A	uc002gca.3	-	3	936	c.735C>T	c.(733-735)ggC>ggT	p.G245G	DHX33_uc002gbz.3_Silent_p.G16G|DHX33_uc002gcb.3_Silent_p.G72G|DHX33_uc010clf.3_Intron	NM_020162	NP_001186628	Q9H6R0	DHX33_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 33 (DHX33), transcript variant 1, mRNA.	245	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GGACGGGGGCGCCATTGAAAT	0.517000												
MAEA	10296	broad.mit.edu	37	4	1326598	1326598	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:1326598G>A	uc003gda.3	+	5	740	c.710G>A	c.(709-711)cGc>cAc	p.R237H	MAEA_uc003gdd.3_Non-coding_Transcript|MAEA_uc003gdb.3_Missense_Mutation_p.R196H|MAEA_uc011bvb.2_Missense_Mutation_p.R169H|MAEA_uc003gdc.3_Silent_p.A170A|MAEA_uc011bvc.2_Missense_Mutation_p.R236H|MAEA_uc011bvd.2_Missense_Mutation_p.R189H|MAEA_uc010ibt.3_Intron	NM_001017405	NP_001017405	Q7L5Y9	MAEA_HUMAN	Homo sapiens macrophage erythroblast attacher (MAEA), transcript variant 1, mRNA.	237					cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle	actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle	actin binding			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)			GACGAGGTGCGCCAGGCCATG	0.547000												
DLGAP2	9228	broad.mit.edu	37	8	1497706	1497706	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:1497706G>A	uc003wpl.3	+	1	944	c.847G>A	c.(847-849)Gcc>Acc	p.A283T	DLGAP2_uc003wpm.3_Missense_Mutation_p.A283T	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.	362					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GACGCCCGACGCCAAGTACCT	0.647000												
KCNA6	3742	broad.mit.edu	37	12	4919925	4919925	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:4919925C>T	uc001qng.3	+	0	1584	c.718C>T	c.(718-720)Cct>Tct	p.P240S	KCNA6_uc021qtr.1_Missense_Mutation_p.P240S	NM_002235	NP_002226	P17658	KCNA6_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 6 (KCNA6), mRNA.	240						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						TGGCATCACCCCTGGGGAAAT	0.547000										HNSCC(72;0.22)		
MYH4	4622	broad.mit.edu	37	17	10353795	10353795	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:10353795G>A	uc002gmn.3	-	29	4267	c.4156C>T	c.(4156-4158)Cgc>Tgc	p.R1386C	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1386					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.R1386C(2)|p.R1386H(1)		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						TCCTCTGTGCGCTGGATGGCG	0.527000												
CTTNBP2	83992	broad.mit.edu	37	7	117501313	117501313	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:117501313C>T	uc003vjf.3	-	1	231	c.139G>A	c.(139-141)Gtg>Atg	p.V47M		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA.	47										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CCTTCCATCACGCTGAGGAGC	0.473000												
INTS2	57508	broad.mit.edu	37	17	59971251	59971251	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:59971251C>T	uc002izn.3	-	12	1673	c.1597G>A	c.(1597-1599)Gct>Act	p.A533T	INTS2_uc002izm.3_Missense_Mutation_p.A525T	NM_020748	NP_065799	Q9H0H0	INT2_HUMAN	Homo sapiens integrator complex subunit 2 (INTS2), transcript variant 1, mRNA.	533					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						ACTGCATGAGCTGTGACAACC	0.373000												
WNK4	65266	broad.mit.edu	37	17	40947525	40947525	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:40947525C>T	uc002ibj.3	+	14	3076	c.3008C>T	c.(3007-3009)gCg>gTg	p.A1003V	WNK4_uc010wgx.2_Missense_Mutation_p.A667V|CCDC56_uc010wgz.1_3'UTR	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	Homo sapiens WNK lysine deficient protein kinase 4 (WNK4), mRNA.	1003					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		GCCAGGCTGGCGCCCATCTCT	0.587000												
ERBB3	2065	broad.mit.edu	37	12	56478854	56478854	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:56478854G>A	uc001sjh.3	+	2	586	c.310G>A	c.(310-312)Gtg>Atg	p.V104M	ERBB3_uc009zoj.3_Non-coding_Transcript|ERBB3_uc010sqb.2_Intron|ERBB3_uc010sqc.2_Missense_Mutation_p.V45M|ERBB3_uc001sjg.3_Missense_Mutation_p.V104M	NM_001982	NP_001973	P21860	ERBB3_HUMAN	Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian) (ERBB3), transcript variant 1, mRNA.	104			V -> M (in an ovarian mucinous carcinoma sample; somatic mutation).		Schwann cell differentiation|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|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	p.V104M(8)|p.V104L(2)		central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CAACCTCCGCGTGGTGCGAGG	0.517000												
ZFYVE20	64145	broad.mit.edu	37	3	15116081	15116081	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:15116081C>A	uc003bzm.1	-	13	2177	c.1563G>T	c.(1561-1563)caG>caT	p.Q521H	ZFYVE20_uc010hek.1_Missense_Mutation_p.Q521H	NM_022340	NP_071735	Q9H1K0	RBNS5_HUMAN	Homo sapiens zinc finger, FYVE domain containing 20 (ZFYVE20), mRNA.	521	Necessary for the interaction with EHD1.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						ACATCTGCAGCTGTTCCCGCT	0.607000												
OR4K1	79544	broad.mit.edu	37	14	20404274	20404274	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:20404274C>T	uc001vwj.2	+	0	508	c.449C>T	c.(448-450)gCg>gTg	p.A150V		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA.	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A150A(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		ATTTCCTGGGCGGTGGGCGTT	0.463000												
CNGA4	1262	broad.mit.edu	37	11	6261854	6261854	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:6261854C>T	uc001mco.3	+	3	945	c.830C>T	c.(829-831)gCg>gTg	p.A277V	CNGA4_uc010raa.2_Intron|CNGA4_uc001mcn.3_Missense_Mutation_p.A237V	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 4 (CNGA4), mRNA.	277					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACTGCAGATGCGGCTTTCTAC	0.542000												
ZNF550	162972	broad.mit.edu	37	19	58059290	58059290	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:58059290G>A	uc002qpe.1	-	1	199	c.199C>T	c.(199-201)Cgg>Tgg	p.R67W	ZNF550_uc002qpc.3_Non-coding_Transcript|ZNF550_uc010eue.2_Non-coding_Transcript|ZNF550_uc002qpd.3_Non-coding_Transcript	NM_001039654	NP_001034743	Q7Z398	ZN550_HUMAN	Homo sapiens zinc finger protein 550 (ZNF550), mRNA.	108	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	7		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGGCTTCCCCGGAGAAAGGCC	0.517000												
RPS6KC1	26750	broad.mit.edu	37	1	213414415	213414415	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:213414415G>T	uc010ptr.2	+	10	1755	c.1596G>T	c.(1594-1596)gaG>gaT	p.E532D	RPS6KC1_uc001hkd.3_Missense_Mutation_p.E520D|RPS6KC1_uc010pts.2_Missense_Mutation_p.E320D|RPS6KC1_uc010ptt.2_Missense_Mutation_p.E320D|RPS6KC1_uc010ptu.2_Missense_Mutation_p.E351D|RPS6KC1_uc010ptv.2_Missense_Mutation_p.E67D|RPS6KC1_uc001hke.3_Missense_Mutation_p.E351D	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN	Homo sapiens ribosomal protein S6 kinase, 52kDa, polypeptide 1 (RPS6KC1), transcript variant 1, mRNA.	532					cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		TGAATGAGGAGCCCTTCATGA	0.418000												
PCDH7	5099	broad.mit.edu	37	4	30725052	30725052	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:30725052C>T	uc003gsk.1	+	0	3016	c.2008C>T	c.(2008-2010)Cgg>Tgg	p.R670W	PCDH7_uc011bxx.2_Missense_Mutation_p.R670W|PCDH7_uc021xnd.1_Missense_Mutation_p.R670W|PCDH7_uc021xnc.1_Missense_Mutation_p.R670W	NM_002589	NP_002580	O60245	PCDH7_HUMAN	Homo sapiens protocadherin 7 (PCDH7), transcript variant a, mRNA.	670	Cadherin 6.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						TGACAAGGGGCGGAATGCAGA	0.463000												
UVRAG	7405	broad.mit.edu	37	11	75851877	75851877	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:75851877C>T	uc001oxc.3	+	14	1761	c.1520C>T	c.(1519-1521)gCc>gTc	p.A507V	UVRAG_uc010rrw.2_Missense_Mutation_p.A406V|UVRAG_uc001oxd.3_Missense_Mutation_p.A135V|UVRAG_uc010rrx.2_Missense_Mutation_p.A135V|UVRAG_uc010rry.2_Missense_Mutation_p.A63V	NM_003369	NP_003360	Q9P2Y5	UVRAG_HUMAN	Homo sapiens UV radiation resistance associated gene (UVRAG), mRNA.	507					DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						CGAAAACGGGCCAGCTCTGAG	0.537000												
WDR90	197335	broad.mit.edu	37	16	716352	716352	+	Splice_Site	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:716352T>C	uc002cii.1	+	37	4794	c.4740_splice	c.e37+2	p.E1580_splice	WDR90_uc002cij.1_Intron|WDR90_uc002cil.1_Splice_Site|WDR90_uc002cin.1_Splice_Site_p.E195_splice|WDR90_uc002cio.1_Splice_Site_p.E179_splice|WDR90_uc010bqx.1_Splice_Site_p.E179_splice|RHOT2_uc010uum.2_5'Flank|RHOT2_uc002cip.3_5'Flank|RHOT2_uc002ciq.3_5'Flank	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	Homo sapiens WD repeat domain 90 (WDR90), mRNA.	1580										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				TGCAAAGAGGTAAAGCAGCCC	0.637000												
DPPA2	151871	broad.mit.edu	37	3	109023460	109023460	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:109023460A>G	uc003dxo.3	-	6	963	c.716T>C	c.(715-717)gTa>gCa	p.V239A		NM_138815	NP_620170	Q7Z7J5	DPPA2_HUMAN	Homo sapiens developmental pluripotency associated 2 (DPPA2), mRNA.	239						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTGCAGGCGTACCCAACCCTT	0.512000												
SCN3A	6328	broad.mit.edu	37	2	165946823	165946823	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:165946823T>C	uc002ucx.3	-	27	6332	c.5840A>G	c.(5839-5841)gAc>gGc	p.D1947G	SCN3A_uc010zcy.2_Missense_Mutation_p.D430G|SCN3A_uc002ucy.3_Missense_Mutation_p.D1898G|SCN3A_uc002ucz.3_Missense_Mutation_p.D1898G	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	1947						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	ATTTAGTTTGTCAATAATCAT	0.348000												
KBTBD12	166348	broad.mit.edu	37	3	127646815	127646815	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:127646815G>A	uc010hsr.3	+	1	1282	c.1279G>A	c.(1279-1281)Gca>Aca	p.A427T	KBTBD12_uc003ejy.4_Missense_Mutation_p.A34T|KBTBD12_uc010hsq.3_Intron|KBTBD12_uc003eka.4_Intron|KBTBD12_uc003ejz.2_Missense_Mutation_p.A427T	NM_207335	NP_997218	Q3ZCT8	KBTBC_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 12 (KBTBD12), mRNA.	427										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						ACTGCAATTGGCATGTCATGC	0.383000												
RGNEF	64283	broad.mit.edu	37	5	73069726	73069726	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:73069726C>T	uc010izf.3	+	4	698	c.522C>T	c.(520-522)ggC>ggT	p.G174G	RGNEF_uc011csq.2_Silent_p.G174G|RGNEF_uc003kcy.1_Silent_p.G174G|RGNEF_uc021yam.1_Silent_p.G174G	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN	Homo sapiens 190 kDa guanine nucleotide exchange factor (RGNEF), transcript variant 1, mRNA.	174					cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	RNA binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding						Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)		TGAGATGGGGCCTGGCTAAAC	0.458000												
SNX33	257364	broad.mit.edu	37	15	75949483	75949483	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:75949483G>A	uc002bau.3	+	1	1748	c.1652G>A	c.(1651-1653)cGc>cAc	p.R551H	SNX33_uc002bav.3_Missense_Mutation_p.R164H	NM_153271	NP_695003	Q8WV41	SNX33_HUMAN	Homo sapiens sorting nexin 33 (SNX33), mRNA.	551	BAR.				cell communication		phosphatidylinositol binding|protein binding	p.R551H(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						AACTACTTGCGCCAGCAGATC	0.627000												
PRPSAP2	5636	broad.mit.edu	37	17	18770597	18770597	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:18770597G>A	uc002gup.2	+	3	444	c.122G>A	c.(121-123)cGg>cAg	p.R41Q	PRPSAP2_uc002guo.2_Intron|PRPSAP2_uc010vyi.2_Intron|PRPSAP2_uc010vyj.2_Intron|PRPSAP2_uc010vyk.2_Missense_Mutation_p.R41Q	NM_002767	NP_002758	O60256	KPRB_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase-associated protein 2 (PRPSAP2), transcript variant 1, mRNA.	41					nucleotide biosynthetic process		enzyme inhibitor activity|magnesium ion binding|ribose phosphate diphosphokinase activity	p.R41W(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						TTCTCTAGGCGGCTAGGGGTG	0.418000												
POMC	5443	broad.mit.edu	37	2	25384011	25384011	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:25384011G>A	uc002rfy.1	-	3	1006	c.743C>T	c.(742-744)aCg>aTg	p.T248M	POMC_uc002rfz.1_Missense_Mutation_p.T248M|POMC_uc002rga.1_Missense_Mutation_p.T248M	NM_001035256	NP_001030333	P01189	COLI_HUMAN	Homo sapiens proopiomelanocortin (POMC), transcript variant 1, mRNA.	248					cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure	extracellular space|stored secretory granule	hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108)	CACCAGGGGCGTCTGGCTCTT	0.637000												
RALY	22913	broad.mit.edu	37	20	32661432	32661432	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:32661432C>T	uc002xab.3	+	3	892	c.320C>T	c.(319-321)gCc>gTc	p.A107V	RALY_uc010zui.2_Missense_Mutation_p.A107V|RALY_uc002xac.3_Missense_Mutation_p.A107V	NM_016732	NP_057951	Q9UKM9	RALY_HUMAN	Homo sapiens RNA binding protein, autoantigenic (hnRNP-associated with lethal yellow homolog (mouse)) (RALY), transcript variant 1, mRNA.	107						catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex	RNA binding|nucleotide binding			kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						GCAGCATCTGCCATATACAGG	0.517000												
EDN1	1906	broad.mit.edu	37	6	12296243	12296243	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:12296243G>T	uc003nae.4	+	4	916	c.582G>T	c.(580-582)aaG>aaT	p.K194N	EDN1_uc003nad.3_3'UTR|EDN1_uc003naf.4_Missense_Mutation_p.K193N	NM_001955	NP_001946	P05305	EDN1_HUMAN	Homo sapiens endothelin 1 (EDN1), transcript variant 1, mRNA.	194					artery smooth muscle contraction|calcium-mediated signaling|leukocyte activation|negative regulation of blood coagulation|negative regulation of cellular protein metabolic process|negative regulation of nitric-oxide synthase biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|nitric oxide transport|peptide hormone secretion|phosphatidylinositol 3-kinase cascade|positive regulation of JUN kinase activity|positive regulation of cardiac muscle hypertrophy|positive regulation of cell size|positive regulation of endothelial cell migration|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of sarcomere organization|positive regulation of smooth muscle cell proliferation|prostaglandin biosynthetic process|protein kinase C deactivation|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	cytoplasm|extracellular space	cytokine activity|endothelin A receptor binding|endothelin B receptor binding|hormone activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	13	all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12)	all_hematologic(90;0.117)				ATGATCCCAAGCTGAAAGGCA	0.458000												
AKAP9	10142	broad.mit.edu	37	7	91718798	91718798	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:91718798A>G	uc003ulg.3	+	37	9538	c.9313A>G	c.(9313-9315)Aaa>Gaa	p.K3105E	AKAP9_uc003ulf.3_Missense_Mutation_p.K3097E|AKAP9_uc003uli.3_Missense_Mutation_p.K2728E|AKAP9_uc003ulj.3_Missense_Mutation_p.K875E|AKAP9_uc003ulk.3_Missense_Mutation_p.K380E|AKAP9_uc003ull.3_5'Flank	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	3109					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GAATGGTAGGAAAATTACTCT	0.393000			T	BRAF	papillary thyroid							
CLASP2	23122	broad.mit.edu	37	3	33729801	33729801	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:33729801G>A	uc021wvc.1	-	3	649	c.438C>T	c.(436-438)ggC>ggT	p.G146G	CLASP2_uc021wvd.1_Silent_p.G146G	NM_015097	NP_055912	B2RTR1	B2RTR1_HUMAN	Homo sapiens cytoplasmic linker associated protein 2 (CLASP2), transcript variant 1, mRNA.	146										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						ACAGACACACGCCTTCTCGAG	0.303000												
ITGA5	3678	broad.mit.edu	37	12	54799107	54799107	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:54799107G>A	uc001sga.3	-	11	1136	c.1068C>T	c.(1066-1068)gaC>gaT	p.D356D	ITGA5_uc010sow.1_Non-coding_Transcript|ITGA5_uc009znp.1_Non-coding_Transcript	NM_002205	NP_002196	P08648	ITA5_HUMAN	Homo sapiens integrin, alpha 5 (fibronectin receptor, alpha polypeptide) (ITGA5), mRNA.	356					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						GAGGCCGCCCGTCAGGGGTCC	0.642000												
SF3A1	10291	broad.mit.edu	37	22	30734847	30734847	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:30734847C>T	uc003ahl.3	-	10	1806	c.1674G>A	c.(1672-1674)ccG>ccA	p.P558P	SF3A1_uc021wnt.1_Silent_p.P493P	NM_005877	NP_005868	Q15459	SF3A1_HUMAN	Homo sapiens splicing factor 3a, subunit 1, 120kDa (SF3A1), transcript variant 1, mRNA.	558	Poly-Pro.				nuclear mRNA 3'-splice site recognition	U2-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm	RNA binding|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						AAGATGGTGGCGGTGGCTGTT	0.557000												
PCDHAC2	56134	broad.mit.edu	37	5	140347212	140347212	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:140347212C>T	uc003lii.3	+	0	1466	c.861C>T	c.(859-861)ggC>ggT	p.G287G	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Intron|PCDHAC2_uc011dag.2_Silent_p.G287G	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	287	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGATGAGGGCTCCAATGGTG	0.582000												
KIAA1958	158405	broad.mit.edu	37	9	115336875	115336875	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:115336875G>A	uc011lwx.1	+	1	690	c.515G>A	c.(514-516)cGc>cAc	p.R172H	KIAA1958_uc004bgf.1_Missense_Mutation_p.R172H	NM_133465	NP_597722	Q8N8K9	K1958_HUMAN	Homo sapiens KIAA1958 (KIAA1958), mRNA.	172										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						AGCATTGCTCGCAAAAGACCT	0.458000												
EIF4B	1975	broad.mit.edu	37	12	53428437	53428437	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:53428437G>A	uc001sbh.4	+	9	1456	c.1250G>A	c.(1249-1251)cGg>cAg	p.R417Q	EIF4B_uc010snu.2_Missense_Mutation_p.R417Q|EIF4B_uc010snv.2_Missense_Mutation_p.R378Q	NM_001417	NP_001408	P23588	IF4B_HUMAN	Homo sapiens eukaryotic translation initiation factor 4B (EIF4B), mRNA.	417					insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						GAACGGGAACGGTCGAGGACA	0.498000												
LPIN1	23175	broad.mit.edu	37	2	11924028	11924028	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:11924028G>A	uc010yjm.2	+	9	1538	c.1485G>A	c.(1483-1485)gcG>gcA	p.A495A	LPIN1_uc010yjn.2_Silent_p.A410A|LPIN1_uc002rbt.3_Silent_p.A410A|LPIN1_uc002rbs.3_Silent_p.A446A	NM_145693	NP_663731	Q14693	LPIN1_HUMAN	Homo sapiens lipin 1 (LPIN1), mRNA.	410					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity	p.D495N(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		CTGAAGTGGCGGCCCTGTATT	0.428000												
SNRPD1	6632	broad.mit.edu	37	18	19209061	19209061	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:19209061C>T	uc002ktj.1	+	3	453	c.322C>T	c.(322-324)Cgt>Tgt	p.R108C		NM_006938	NP_008869	P62314	SMD1_HUMAN	Homo sapiens small nuclear ribonucleoprotein D1 polypeptide 16kDa (SNRPD1), mRNA.	108	Arg/Lys-rich (basic).				ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	U12-type spliceosomal complex|catalytic step 2 spliceosome|cytosol|nucleoplasm|small nuclear ribonucleoprotein complex	RNA binding|protein binding			lung(2)|prostate(1)	3						aggaagaggacgtggccgtgg	0.448000												
SLC39A9	55334	broad.mit.edu	37	14	69908873	69908873	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:69908873G>A	uc001xle.3	+	2	995	c.293G>A	c.(292-294)aGc>aAc	p.S98N	SLC39A9_uc021rvg.1_5'UTR|SLC39A9_uc021rvh.1_5'UTR|SLC39A9_uc001xlf.4_Missense_Mutation_p.S98N|SLC39A9_uc010aqx.3_Missense_Mutation_p.S98N|SLC39A9_uc001xlg.4_Non-coding_Transcript	NM_018375	NP_060845	Q9NUM3	S39A9_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 9 (SLC39A9), transcript variant 1, mRNA.	98					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|skin(1)|stomach(1)	14				all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)		CATGAGCACAGCCACGACCAC	0.458000												
TMEM168	64418	broad.mit.edu	37	7	112424684	112424684	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:112424684A>G	uc003vgn.3	-	1	589	c.197T>C	c.(196-198)gTa>gCa	p.V66A	TMEM168_uc010lju.3_Missense_Mutation_p.V66A|TMEM168_uc011kmr.2_Intron	NM_022484	NP_071929	Q9H0V1	TM168_HUMAN	Homo sapiens transmembrane protein 168 (TMEM168), mRNA.	66						integral to membrane|transport vesicle				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						AATAAAAATTACCAAAATTAA	0.343000												
CLDN25	644672	broad.mit.edu	37	11	113651128	113651128	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:113651128T>C	uc009yyw.1	+	0	611	c.611T>C	c.(610-612)gTc>gCc	p.V204A		NM_001101389	NP_001094859	C9JDP6	CLD25_HUMAN	Homo sapiens claudin 25 (CLDN25), mRNA.	204						integral to membrane|tight junction	structural molecule activity			large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2)	10						GGTCCCACAGTCCCCCTATCC	0.547000												
ARFGEF2	10564	broad.mit.edu	37	20	47639702	47639702	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:47639702A>G	uc002xtx.4	+	34	4891	c.4739A>G	c.(4738-4740)cAc>cGc	p.H1580R	ARFGEF2_uc010zyf.2_Missense_Mutation_p.H873R	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA.	1580					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	Golgi membrane|cytosol	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			GATGCAGAGCACATGGTTGCC	0.527000												
MS4A8B	83661	broad.mit.edu	37	11	60470903	60470903	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:60470903C>T	uc001npv.3	+	2	475	c.272C>T	c.(271-273)gCg>gTg	p.A91V	MS4A8B_uc009yne.1_Missense_Mutation_p.A91V	NM_031457	NP_113645	Q9BY19	M4A8B_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 8B (MS4A8B), mRNA.	91						integral to membrane	receptor activity	p.A91A(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						TCCATCATGGCGACGGTTCTC	0.552000												
BRF1	2972	broad.mit.edu	37	14	105707625	105707625	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:105707625C>T	uc001yqp.2	-	5	1034	c.671G>A	c.(670-672)cGc>cAc	p.R224H	BRF1_uc010tyo.1_Missense_Mutation_p.R109H|BRF1_uc010typ.1_Missense_Mutation_p.R109H|BRF1_uc001yql.2_Missense_Mutation_p.R20H|BRF1_uc001yqo.2_Intron|BRF1_uc010axg.1_Missense_Mutation_p.R197H|BRF1_uc001yqn.2_Non-coding_Transcript|BRF1_uc010axh.1_Non-coding_Transcript|BRF1_uc010axj.1_Intron	NM_001519	NP_663718	Q92994	TF3B_HUMAN	Homo sapiens BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB (S. cerevisiae) (BRF1), transcript variant 1, mRNA.	224				R -> G (in Ref. 1; AAC50170).	positive regulation of transcription, DNA-dependent|rRNA transcription|tRNA transcription|transcription initiation from RNA polymerase III promoter	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		GCCCGAGGGGCGCCGGCCTGT	0.652000												
ARID1B	57492	broad.mit.edu	37	6	157488293	157488293	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:157488293C>T	uc003qqp.3	+	8	2960	c.2960C>T	c.(2959-2961)gCg>gTg	p.A987V	ARID1B_uc003qqo.3_Missense_Mutation_p.A1000V|ARID1B_uc003qqn.3_Missense_Mutation_p.A987V	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	987					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TACAGCATGGCGCCCGCCATG	0.597000												
CDH3	1001	broad.mit.edu	37	16	68725731	68725731	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:68725731C>T	uc002ewf.2	+	12	3036	c.1904C>T	c.(1903-1905)gCc>gTc	p.A635V	CDH3_uc010vli.1_Missense_Mutation_p.A580V	NM_001793	NP_001784	P22223	CADH3_HUMAN	Homo sapiens cadherin 3, type 1, P-cadherin (placental) (CDH3), mRNA.	635	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		GTGATCAGGGCCACTGTGTGC	0.567000												
TTN	7273	broad.mit.edu	37	2	179549074	179549074	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:179549074G>A	uc021vsy.1	-	128	29198	c.28973C>T	c.(28972-28974)gCg>gTg	p.A9658V	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.A6319V|TTN_uc010fre.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	10585							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)			TTTTGGAGGCGCCTCTTTTTT	0.398000												
HADHA	3030	broad.mit.edu	37	2	26437359	26437359	+	Nonsense_Mutation	SNP	G	G	A	rs137852775		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:26437359G>A	uc002rgy.3	-	8	1001	c.871C>T	c.(871-873)Cga>Tga	p.R291*	HADHA_uc010yks.2_Nonsense_Mutation_p.R204*|HADHA_uc010ykt.1_Nonsense_Mutation_p.R204*	NM_000182	NP_000173	P40939	ECHA_HUMAN	Homo sapiens hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit (HADHA), nuclear gene encoding mitochondrial protein, mRNA.	291					fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding	p.R291*(2)|p.R204*(1)		autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				NADH(DB00157)	GTCTGCTTTCGCACTTTTTCT	0.343000												
NUP210	23225	broad.mit.edu	37	3	13415302	13415302	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:13415302G>A	uc003bxv.1	-	11	1586	c.1503C>T	c.(1501-1503)ggC>ggT	p.G501G	NUP210_uc003bxx.3_Silent_p.G173G	NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	Homo sapiens nucleoporin 210kDa (NUP210), mRNA.	501					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TGGTCATCACGCCCTTGACAG	0.567000												
NEB	4703	broad.mit.edu	37	2	152536281	152536281	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:152536281G>A	uc021vrb.1	-	29	3238	c.3209C>T	c.(3208-3210)gCg>gTg	p.A1070V	NEB_uc002txu.3_Missense_Mutation_p.A1070V|NEB_uc021vrc.1_Missense_Mutation_p.A1070V|NEB_uc010fnx.3_Missense_Mutation_p.A1070V|NEB_uc021vrd.1_Missense_Mutation_p.A1070V	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	1070					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle	p.A1070V(3)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GATGGGAATCGCATCAGTTCT	0.468000												
POLR2A	5430	broad.mit.edu	37	17	7406984	7406984	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:7406984G>A	uc002ghf.4	+	18	3500	c.3114G>A	c.(3112-3114)acG>acA	p.T1038T		NM_000937	NP_000928	P24928	RPB1_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide A, 220kDa (POLR2A), mRNA.	1038					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|RNA-directed RNA polymerase activity|metal ion binding|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				AAAATGCCACGCTGCTCTTCA	0.562000												
MTSS1	9788	broad.mit.edu	37	8	125568594	125568594	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:125568594C>T	uc003yrl.2	-	12	1829	c.1295G>A	c.(1294-1296)cGc>cAc	p.R432H	NDUFB9_uc011lim.1_Intron|MTSS1_uc003yrh.2_5'UTR|MTSS1_uc011lin.1_Missense_Mutation_p.R202H|MTSS1_uc011lio.1_Missense_Mutation_p.R318H|MTSS1_uc003yri.2_Splice_Site_p.R146_splice|MTSS1_uc003yrj.2_Missense_Mutation_p.R403H|MTSS1_uc003yrk.2_Missense_Mutation_p.R428H	NM_014751	NP_055566	O43312	MTSS1_HUMAN	Homo sapiens metastasis suppressor 1 (MTSS1), mRNA.	428					actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	SH3 domain binding|actin monomer binding|cytoskeletal adaptor activity|receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CTCTTTGCGGCGCTGCAGGGT	0.647000												
HS6ST3	266722	broad.mit.edu	37	13	97485082	97485082	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:97485082C>T	uc001vmw.3	+	1	1070	c.1046C>T	c.(1045-1047)gCc>gTc	p.A349V		NM_153456	NP_703157	Q8IZP7	H6ST3_HUMAN	Homo sapiens heparan sulfate 6-O-sulfotransferase 3 (HS6ST3), mRNA.	349						integral to membrane	sulfotransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					AAGAACATGGCCTTCTTTGGG	0.468000												
SLC47A2	146802	broad.mit.edu	37	17	19584902	19584902	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:19584902C>T	uc002gwe.4	-	13	1529	c.1354G>A	c.(1354-1356)Ggc>Agc	p.G452S	SLC47A2_uc002gwg.4_Missense_Mutation_p.G416S|SLC47A2_uc002gwf.4_Missense_Mutation_p.G430S|SLC47A2_uc002gwh.4_Non-coding_Transcript|SLC47A2_uc002gwi.3_Non-coding_Transcript|SLC47A2_uc010cqs.1_Non-coding_Transcript	NM_152908	NP_690872	Q86VL8	S47A2_HUMAN	Homo sapiens solute carrier family 47, member 2 (SLC47A2), transcript variant 1, mRNA.	452						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)					AGTGGTAGGCCGATGATGTAA	0.532000												
GPR17	2840	broad.mit.edu	37	2	128408489	128408489	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:128408489C>T	uc010yzn.2	+	3	875	c.264C>T	c.(262-264)caC>caT	p.H88H	LIMS2_uc002tow.3_5'Flank|LIMS2_uc002tox.3_Intron|LIMS2_uc010fmb.3_Intron|LIMS2_uc002toy.3_Intron|LIMS2_uc002tpa.3_Intron|LIMS2_uc002toz.3_Intron|LIMS2_uc010yzm.2_Intron|LIMS2_uc002tpb.3_Intron|GPR17_uc002tpc.3_Silent_p.H88H|GPR17_uc010yzo.2_Silent_p.H60H|GPR17_uc002tpd.3_Silent_p.H60H	NM_001161415	NP_001154889	Q13304	GPR17_HUMAN	Homo sapiens G protein-coupled receptor 17 (GPR17), transcript variant 1, mRNA.	88						integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		TCCGAGACCACAAGTCCGGGA	0.582000												
ITPR1	3708	broad.mit.edu	37	3	4735265	4735265	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:4735265G>A	uc003bqc.3	+	31	4426	c.4076G>A	c.(4075-4077)cGg>cAg	p.R1359Q	ITPR1_uc021wsi.1_Missense_Mutation_p.R1365Q|ITPR1_uc021wsj.1_Missense_Mutation_p.R1350Q|ITPR1_uc011asu.2_Intron	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	1374					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GAACGGGATCGGATGGATGAG	0.512000												
CDC25C	995	broad.mit.edu	37	5	137621809	137621809	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:137621809G>A	uc003lcs.1	-	12	1608	c.1408C>T	c.(1408-1410)Cgt>Tgt	p.R470C	CDC25C_uc003lcp.1_Missense_Mutation_p.R392C|CDC25C_uc003lcq.1_Missense_Mutation_p.R319C|CDC25C_uc003lcr.1_Missense_Mutation_p.R392C|CDC25C_uc011cyp.1_Missense_Mutation_p.R409C	NM_001790	NP_001781	P30307	MPIP3_HUMAN	Homo sapiens cell division cycle 25 homolog C (S. pombe) (CDC25C), transcript variant 1, mRNA.	392					DNA replication|G2/M transition of mitotic cell cycle|cell cycle checkpoint|cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm	WW domain binding|protein tyrosine phosphatase activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TCCTCTTCACGCAGACAGCGG	0.517000												
HAO1	54363	broad.mit.edu	37	20	7886883	7886883	+	Silent	SNP	T	T	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:7886883T>G	uc002wmw.1	-	3	663	c.639A>C	c.(637-639)atA>atC	p.I213I	HAO1_uc010gbu.3_Silent_p.I213I	NM_017545	NP_060015	Q9UJM8	HAOX1_HUMAN	Homo sapiens hydroxyacid oxidase (glycolate oxidase) 1 (HAO1), mRNA.	213	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TAGATGGGTCTATTGCTTTAG	0.383000												
BEND5	79656	broad.mit.edu	37	1	49208298	49208298	+	Silent	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:49208298G>T	uc001crx.4	-	3	935	c.891C>A	c.(889-891)ggC>ggA	p.G297G	AGBL4_uc001cru.2_Intron|AGBL4_uc010omw.1_Intron|AGBL4_uc010omx.1_Intron|AGBL4_uc010omy.1_Intron|AGBL4_uc001crv.1_Intron|BEND5_uc001crw.4_Silent_p.G128G	NM_024603	NP_078879	Q7L4P6	BEND5_HUMAN	Homo sapiens BEN domain containing 5 (BEND5), mRNA.	297										large_intestine(5)|lung(2)|skin(1)	8						ACACTACCTTGCCATTGTCTA	0.483000												
CCDC92	80212	broad.mit.edu	37	12	124422003	124422003	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:124422003C>T	uc001ufw.1	-	4	745	c.598G>A	c.(598-600)Gaa>Aaa	p.E200K	CCDC92_uc001ufv.1_Missense_Mutation_p.E183K|CCDC92_uc001ufx.1_Missense_Mutation_p.E200K	NM_025140	NP_079416	Q53HC0	CCD92_HUMAN	Homo sapiens coiled-coil domain containing 92 (CCDC92), mRNA.	200										large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		CGAGGCGTTTCGGGTAGCTTG	0.602000												
WNT3	7473	broad.mit.edu	37	17	44846086	44846086	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:44846086G>A	uc002ikv.2	-	3	787	c.668C>T	c.(667-669)gCg>gTg	p.A223V		NM_030753	NP_110380	P56703	WNT3_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 3 (WNT3), mRNA.	223					Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation	early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|signal transducer activity			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			GTCAGGCTGCGCCCACCAGCA	0.602000												
WBSCR17	64409	broad.mit.edu	37	7	71142200	71142200	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:71142200G>A	uc003tvy.3	+	8	1409	c.1409G>A	c.(1408-1410)cGc>cAc	p.R470H	WBSCR17_uc003tvz.3_Missense_Mutation_p.R169H	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	470	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.L469F(1)|p.R470C(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TTGCAGCTTCGCAACAACAAG	0.532000												
AICDA	57379	broad.mit.edu	37	12	8759609	8759609	+	Splice_Site	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:8759609C>T	uc001qur.2	-	2	88	c.9_splice	c.e2-1	p.S3_splice	AICDA_uc001qup.1_Splice_Site|AICDA_uc001quq.1_Splice_Site|AICDA_uc009zgd.1_Splice_Site	NM_020661	NP_065712	Q9GZX7	AICDA_HUMAN	Homo sapiens activation-induced cytidine deaminase (AICDA), mRNA.	3					B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					CATCAAGAGGCTGTGGGTGAG	0.463000												
NRP2	8828	broad.mit.edu	37	2	206608199	206608199	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:206608199C>T	uc002vaw.3	+	8	2355	c.1564C>T	c.(1564-1566)Cgc>Tgc	p.R522C	NRP2_uc002vat.3_Missense_Mutation_p.R522C|NRP2_uc002vau.3_Missense_Mutation_p.R522C|NRP2_uc002vav.3_Missense_Mutation_p.R522C|NRP2_uc002vax.3_Missense_Mutation_p.R522C|NRP2_uc002vay.3_Missense_Mutation_p.R522C|NRP2_uc010fud.3_Missense_Mutation_p.R522C	NM_201266	NP_957718	O60462	NRP2_HUMAN	Homo sapiens neuropilin 2 (NRP2), transcript variant 1, mRNA.	522	F5/8 type C 2.				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						AGCATTTGTGCGCAAGTTCAA	0.542000												
SEPP1	6414	broad.mit.edu	37	5	42801362	42801362	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:42801362C>T	uc011cps.2	-	5	794	c.696G>A	c.(694-696)tcG>tcA	p.S232S	CCDC152_uc003jmx.3_3'UTR|CCDC152_uc011cpr.1_3'UTR|SEPP1_uc011cpt.2_Silent_p.S202S|SEPP1_uc011cpu.2_Silent_p.S202S|SEPP1_uc003jna.3_Non-coding_Transcript	NM_001093726		P49908	SEPP1_HUMAN	Homo sapiens selenoprotein P, plasma, 1 (SEPP1), transcript variant 3, mRNA.	202					response to oxidative stress	extracellular region	selenium binding			kidney(10)|large_intestine(1)|lung(4)	15						GGTAATGAGGCGATGGAGTTT	0.403000												
C12orf42	374470	broad.mit.edu	37	12	103872137	103872137	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:103872137T>A	uc001tjt.2	-	1	156	c.68A>T	c.(67-69)aAc>aTc	p.N23I	C12orf42_uc001tjs.3_Non-coding_Transcript|C12orf42_uc009zuf.1_Missense_Mutation_p.N23I|C12orf42_uc001tju.2_5'UTR	NM_198521	NP_940923	Q96LP6	CL042_HUMAN	Homo sapiens chromosome 12 open reading frame 42 (C12orf42), transcript variant 1, mRNA.	23										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						CTGCATCCTGTTTGCAAAAGG	0.333000												
C5orf20	140947	broad.mit.edu	37	5	134782488	134782488	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:134782488G>A	uc003lav.3	-	0	551	c.311C>T	c.(310-312)gCg>gTg	p.A104V		NM_130848	NP_570900	Q8TF63	DCNP1_HUMAN	Homo sapiens chromosome 5 open reading frame 20 (C5orf20), mRNA.	104						nucleus				endometrium(1)|lung(1)|prostate(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGAGGGCCTCGCAGATGCTTC	0.572000												
APBA1	320	broad.mit.edu	37	9	72131639	72131639	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:72131639G>A	uc004ahh.2	-	1	764	c.488C>T	c.(487-489)gCg>gTg	p.A163V		NM_001163	NP_001154	Q02410	APBA1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 1 (APBA1), mRNA.	163					axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						TGAGTAGGCCGCATTCATGGC	0.682000												
CCDC40	55036	broad.mit.edu	37	17	78055728	78055728	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:78055728C>T	uc010dht.3	+	11	1891	c.1860C>T	c.(1858-1860)ggC>ggT	p.G620G	CCDC40_uc021uem.1_Silent_p.G620G|CCDC40_uc002jxm.4_Silent_p.G403G|CCDC40_uc002jxn.4_Silent_p.G16G	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	Homo sapiens coiled-coil domain containing 40 (CCDC40), transcript variant 1, mRNA.	620					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CCATCCAGGGCGAGCTGGAGC	0.582000												
ALDH18A1	5832	broad.mit.edu	37	10	97371048	97371048	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:97371048C>T	uc001kkz.3	-	15	2317	c.2075G>A	c.(2074-2076)gGc>gAc	p.G692D	ALDH18A1_uc001kky.3_Missense_Mutation_p.G690D|ALDH18A1_uc010qog.2_Missense_Mutation_p.G581D|ALDH18A1_uc010qoh.2_Missense_Mutation_p.G480D	NM_002860	NP_002851	P54886	P5CS_HUMAN	Homo sapiens aldehyde dehydrogenase 18 family, member A1 (ALDH18A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	692	Gamma-glutamyl phosphate reductase.				proline biosynthetic process	mitochondrial inner membrane	ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)	L-Glutamic Acid(DB00142)	GTGGGAGCTGCCATACTTGTG	0.512000												
EXTL3	2137	broad.mit.edu	37	8	28575031	28575031	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:28575031G>A	uc003xgz.1	+	2	2048	c.1455G>A	c.(1453-1455)gtG>gtA	p.V485V		NM_001440	NP_001431	O43909	EXTL3_HUMAN	Homo sapiens exostoses (multiple)-like 3 (EXTL3), mRNA.	485						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			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)		CCCTGGTGGTGCCAAAGCCTC	0.617000												
DIP2A	23181	broad.mit.edu	37	21	47976004	47976004	+	Splice_Site	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr21:47976004G>T	uc002zjo.2	+	29	3681	c.3498_splice	c.e29+1	p.K1166_splice	DIP2A_uc011afy.1_Splice_Site_p.K1102_splice|DIP2A_uc011afz.1_Splice_Site_p.K1162_splice|DIP2A_uc002zjr.3_Splice_Site_p.K133_splice	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog A (Drosophila) (DIP2A), transcript variant 1, mRNA.	1166					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		CGGGAGTGAAGGTAGGTCCTC	0.483000												
FZD3	7976	broad.mit.edu	37	8	28385115	28385115	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:28385115G>T	uc003xgx.3	+	4	1367	c.838G>T	c.(838-840)Gga>Tga	p.G280*	FZD3_uc010lvb.3_Nonsense_Mutation_p.G280*	NM_017412	NP_665873	Q9NPG1	FZD3_HUMAN	Homo sapiens frizzled family receptor 3 (FZD3), transcript variant 1, mRNA.	280					G-protein signaling, coupled to cGMP nucleotide second messenger|canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		AGTGACACAAGGATCTCATAA	0.383000												
RAMP3	10268	broad.mit.edu	37	7	45222982	45222982	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:45222982C>T	uc003tnb.3	+	2	479	c.418C>T	c.(418-420)Cgc>Tgc	p.R140C		NM_005856	NP_005847	O60896	RAMP3_HUMAN	Homo sapiens receptor (G protein-coupled) activity modifying protein 3 (RAMP3), mRNA.	140					intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane|lysosome	protein transporter activity	p.R140C(2)		breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	11					Pramlintide(DB01278)	GGTGGTGTGGCGCAGCAAACG	0.627000												
IL20RA	53832	broad.mit.edu	37	6	137322948	137322948	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:137322948C>A	uc003qhj.3	-	6	1842	c.1409G>T	c.(1408-1410)gGg>gTg	p.G470V	IL20RA_uc011edl.2_Missense_Mutation_p.G421V|IL20RA_uc003qhk.3_Missense_Mutation_p.G359V|IL20RA_uc003qhi.3_Missense_Mutation_p.G202V	NM_014432	NP_055247	Q9UHF4	I20RA_HUMAN	Homo sapiens interleukin 20 receptor, alpha (IL20RA), mRNA.	470						integral to membrane	receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		TTCCTCCGGCCCCTCCTCCGA	0.607000												
PDS5A	23244	broad.mit.edu	37	4	39929664	39929664	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:39929664G>A	uc003guv.4	-	2	799	c.259C>T	c.(259-261)Cgt>Tgt	p.R87C	PDS5A_uc003guw.4_Missense_Mutation_p.R87C	NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN	Homo sapiens PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) (PDS5A), transcript variant 1, mRNA.	87					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding	p.R87C(2)		breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						ACAAGGAGACGCACATCTTTA	0.418000												
NCL	4691	broad.mit.edu	37	2	232325210	232325210	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:232325210C>T	uc002vru.3	-	4	1018	c.877G>A	c.(877-879)Gcc>Acc	p.A293T	SNORD82_uc010fxw.1_5'Flank	NM_005381	NP_005372	P19338	NUCL_HUMAN	Homo sapiens nucleolin (NCL), mRNA.	293					angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	RNA binding|nucleotide binding|protein C-terminus binding|telomeric DNA binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		TGTTTCTTGGCTTCAGGAGCT	0.418000												
TMEM86A	144110	broad.mit.edu	37	11	18722705	18722705	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:18722705G>A	uc001moz.1	+	1	330	c.247G>A	c.(247-249)Gcc>Acc	p.A83T		NM_153347	NP_699178	Q8N2M4	TM86A_HUMAN	Homo sapiens transmembrane protein 86A (TMEM86A), mRNA.	83						integral to membrane				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	11						TGTAGGTGACGCCTTCCTCAT	0.617000												
FOXI1	2299	broad.mit.edu	37	5	169535053	169535053	+	Splice_Site	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:169535053G>A	uc003mai.4	+	2	620	c.575_splice	c.e2-1	p.G192_splice	FOXI1_uc003maj.4_Intron	NM_012188	NP_036320	Q12951	FOXI1_HUMAN	Homo sapiens forkhead box I1 (FOXI1), transcript variant 1, mRNA.	192					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	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|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTTGTATCAGGCAAAGGGAAT	0.423000									Pendred syndrome			
F9	2158	broad.mit.edu	37	X	138644001	138644001	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:138644001C>T	uc004fas.1	+	7	1186	c.1157C>T	c.(1156-1158)aCa>aTa	p.T386I	F9_uc004fat.1_Missense_Mutation_p.T348I	NM_000133	NP_000124	P00740	FA9_HUMAN	Homo sapiens coagulation factor IX (F9), mRNA.	386	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|extracellular region|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	CTTCGATCTACAAAGTTCACC	0.463000												
CSTB	1476	broad.mit.edu	37	21	45194175	45194175	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr21:45194175C>T	uc002zdr.3	-	2	314	c.205G>A	c.(205-207)Gtg>Atg	p.V69M		NM_000100	NP_000091	P04080	CYTB_HUMAN	Homo sapiens cystatin B (stefin B) (CSTB), mRNA.	69						cytoplasm|nucleolus	cysteine-type endopeptidase inhibitor activity|protease binding			lung(1)|prostate(1)	2				STAD - Stomach adenocarcinoma(101;0.168)		GATTGGAACACTCGCAGGTGT	0.537000												
NRXN1	9378	broad.mit.edu	37	2	50463984	50463984	+	Silent	SNP	G	G	A	rs147580960		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:50463984G>A	uc021vhh.1	-	16	4410	c.3489C>T	c.(3487-3489)gcC>gcT	p.A1163A	NRXN1_uc010fbp.3_Silent_p.A128A|NRXN1_uc002rxb.4_Silent_p.A835A|NRXN1_uc021vhg.1_Silent_p.A1203A|NRXN1_uc021vhi.1_Silent_p.A1199A|NRXN1_uc021vhj.1_Silent_p.A1159A|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	1163	Laminin G-like 6.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCACCAATACGGCTTCTTTCT	0.443000												
SLC23A2	9962	broad.mit.edu	37	20	4842713	4842713	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:4842713C>T	uc002wlg.1	-	14	1880	c.1505G>A	c.(1504-1506)gGc>gAc	p.G502D	SLC23A2_uc010zqr.1_Missense_Mutation_p.G387D|SLC23A2_uc002wlh.1_Missense_Mutation_p.G502D	NM_005116	NP_976072	Q9UGH3	S23A2_HUMAN	Homo sapiens solute carrier family 23 (nucleobase transporters), member 2 (SLC23A2), transcript variant 1, mRNA.	502					L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GTTAGAGAGGCCAACAGCTGT	0.507000												
SYNE2	23224	broad.mit.edu	37	14	64519034	64519034	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:64519034C>T	uc001xgl.3	+	47	8633	c.8403C>T	c.(8401-8403)ggC>ggT	p.G2801G	SYNE2_uc001xgm.3_Silent_p.G2801G|SYNE2_uc021ruh.1_Silent_p.G2834G	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	2801			G -> S (in dbSNP:rs1890908).		centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CCTATGAGGGCAGTGATTTAA	0.403000												
FAM149A	25854	broad.mit.edu	37	4	187086544	187086544	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:187086544C>T	uc003iyt.4	+	10	1669	c.1090C>T	c.(1090-1092)Cgg>Tgg	p.R364W	FAM149A_uc011cla.1_Missense_Mutation_p.R364W|FAM149A_uc010isl.3_Missense_Mutation_p.R364W|FAM149A_uc011clb.2_Missense_Mutation_p.R364W	NM_015398	NP_056213	A5PLN7	F149A_HUMAN	Homo sapiens family with sequence similarity 149, member A (FAM149A), transcript variant 1, mRNA.	655										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		TCAAACGTCACGGAGCAGGTT	0.537000												
RADIL	55698	broad.mit.edu	37	7	4871777	4871777	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:4871777C>T	uc003snj.1	-	4	1622	c.1449G>A	c.(1447-1449)gcG>gcA	p.A483A	RADIL_uc003sng.1_Non-coding_Transcript|RADIL_uc003sni.1_5'UTR|RADIL_uc011jwc.1_Silent_p.A243A|RADIL_uc011jwd.1_Non-coding_Transcript	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN	Homo sapiens Ras association and DIL domains (RADIL), mRNA.	483					cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CTCACAGTTGCGCCTGCTTCT	0.557000												
PTPRT	11122	broad.mit.edu	37	20	41400120	41400120	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:41400120G>A	uc002xkg.3	-	4	823	c.639C>T	c.(637-639)tgC>tgT	p.C213C	PTPRT_uc010ggj.3_Silent_p.C213C	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	213	Ig-like C2-type.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CACCAGCAATGCACTGAAATG	0.473000												
CAMSAP1	157922	broad.mit.edu	37	9	138714394	138714394	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:138714394C>G	uc004cgr.4	-	10	2113	c.2113G>C	c.(2113-2115)Ggc>Cgc	p.G705R	CAMSAP1_uc004cgq.4_Missense_Mutation_p.G595R|CAMSAP1_uc010nbg.3_Missense_Mutation_p.G427R	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein 1 (CAMSAP1), mRNA.	705						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		TCGGCCCTGCCTACATGAAGG	0.567000												
DNAH1	25981	broad.mit.edu	37	3	52392637	52392637	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:52392637T>A	uc011bef.2	+	24	4411	c.4150T>A	c.(4150-4152)Ttg>Atg	p.L1384M		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	1384	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGAGGTACAGTTGTGCTTCTC	0.597000												
RHCG	51458	broad.mit.edu	37	15	90039664	90039664	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:90039664C>T	uc002bnz.2	-	0	136	c.112G>A	c.(112-114)Gcc>Acc	p.A38T	RHCG_uc002boa.2_Non-coding_Transcript|RHCG_uc010bnq.1_5'UTR	NM_016321	NP_057405	Q9UBD6	RHCG_HUMAN	Homo sapiens Rh family, C glycoprotein (RHCG), mRNA.	38					amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport	apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					CACCAGTGGGCGTCGGCCTCG	0.602000												
PHLPP2	23035	broad.mit.edu	37	16	71689242	71689242	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:71689242C>T	uc002fax.3	-	15	2492	c.2486G>A	c.(2485-2487)cGc>cAc	p.R829H	PHLPP2_uc002fav.3_Non-coding_Transcript|PHLPP2_uc010cgf.3_Missense_Mutation_p.R762H	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	Homo sapiens PH domain and leucine rich repeat protein phosphatase 2 (PHLPP2), mRNA.	829	PP2C-like.					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						CTGCAGCAGGCGCGGGAGCTC	0.498000												
DOCK11	139818	broad.mit.edu	37	X	117773400	117773400	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:117773400T>C	uc004eqp.2	+	37	4067	c.4004T>C	c.(4003-4005)gTg>gCg	p.V1335A	DOCK11_uc004eqq.2_Missense_Mutation_p.V1114A	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	Homo sapiens dedicator of cytokinesis 11 (DOCK11), mRNA.	1335					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TATTTTAGGGTGCATGATGCC	0.388000												
CHD7	55636	broad.mit.edu	37	8	61743054	61743054	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:61743054C>T	uc003xue.3	+	14	4188	c.3696C>T	c.(3694-3696)ggC>ggT	p.G1232G	CHD7_uc022aux.1_Intron	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA.	1232					T cell differentiation|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|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|chromatin 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)			TTTCCAAAGGCGGTGGTCAAG	0.418000												
NCOR1	9611	broad.mit.edu	37	17	15968937	15968937	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:15968937C>T	uc002gpo.3	-	32	5082	c.4813G>A	c.(4813-4815)Gca>Aca	p.A1605T	NCOR1_uc002gpn.3_Missense_Mutation_p.A1621T|NCOR1_uc002gpm.3_Missense_Mutation_p.A125T|NCOR1_uc010vwb.2_Missense_Mutation_p.A189T|NCOR1_uc010coy.3_Missense_Mutation_p.A513T|NCOR1_uc010vwc.2_Missense_Mutation_p.A415T	NM_006311	NP_006302	O75376	NCOR1_HUMAN	Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA.	1605	Interaction with C1D (By similarity).|Interaction with ETO.				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)		TTCTCCATTGCGTAAAGCTGA	0.463000												
CACNA1D	776	broad.mit.edu	37	3	53778828	53778828	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:53778828G>A	uc003dgv.4	+	22	3143	c.2980G>A	c.(2980-2982)Gcc>Acc	p.A994T	CACNA1D_uc003dgu.4_Missense_Mutation_p.A1014T|CACNA1D_uc003dgy.4_Missense_Mutation_p.A994T|CACNA1D_uc003dgw.4_Missense_Mutation_p.A661T|CACNA1D_uc003dgx.1_Missense_Mutation_p.A142T	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	994					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TCCCCTCAGGGCCATCAACAG	0.547000												
PDZRN4	29951	broad.mit.edu	37	12	41966851	41966851	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:41966851A>G	uc010skn.2	+	9	2278	c.2270A>G	c.(2269-2271)gAc>gGc	p.D757G	PDZRN4_uc001rmq.4_Missense_Mutation_p.D499G|PDZRN4_uc009zjz.3_Missense_Mutation_p.D497G|PDZRN4_uc001rmr.3_Missense_Mutation_p.D384G	NM_001164595	NP_001158067	Q6ZMN7	PZRN4_HUMAN	Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA.	757							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				CGTTCCCCTGACAGTTCCCTT	0.502000												
CSF1R	1436	broad.mit.edu	37	5	149441338	149441338	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:149441338C>T	uc003lrl.3	-	10	1896	c.1701G>A	c.(1699-1701)acG>acA	p.T567T	CSF1R_uc011dcd.2_Silent_p.T419T|CSF1R_uc010jhc.3_Non-coding_Transcript|CSF1R_uc003lrm.3_Silent_p.T567T	NM_005211	NP_005202	P07333	CSF1R_HUMAN	Homo sapiens colony stimulating factor 1 receptor (CSF1R), mRNA.	567					cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity	p.P566L(1)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	AAGGCAGCTGCGTGGGGTCGA	0.552000												
ATP8A2	51761	broad.mit.edu	37	13	26144987	26144987	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:26144987T>A	uc001uqk.3	+	16	1698	c.1556T>A	c.(1555-1557)aTc>aAc	p.I519N	ATP8A2_uc010tdi.2_Missense_Mutation_p.I479N|ATP8A2_uc010tdj.2_Non-coding_Transcript|ATP8A2_uc010aaj.1_Missense_Mutation_p.I29N|ATP8A2_uc001uql.1_Missense_Mutation_p.I479N	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8A, member 2 (ATP8A2), mRNA.	479					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		GGAGATAACATCATCTACCAG	0.592000												
MDN1	23195	broad.mit.edu	37	6	90422950	90422950	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:90422950G>A	uc003pnn.1	-	46	7251	c.7135C>T	c.(7135-7137)Cga>Tga	p.R2379*		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	2379					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CTCAGCCCTCGCTGCAGGTAC	0.413000												
PLCG1	5335	broad.mit.edu	37	20	39798904	39798904	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:39798904G>A	uc002xjp.1	+	23	2924	c.2803G>A	c.(2803-2805)Gcc>Acc	p.A935T	PLCG1_uc002xjo.1_Missense_Mutation_p.A935T|PLCG1_uc010zwe.1_Missense_Mutation_p.A561T|PLCG1_uc010ggf.3_Missense_Mutation_p.A259T	NM_182811	NP_877963	P19174	PLCG1_HUMAN	Homo sapiens phospholipase C, gamma 1 (PLCG1), transcript variant 2, mRNA.	935					T cell receptor signaling pathway|activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				GACAGCAGACGCCAGGGTGAG	0.647000												
ZNF274	10782	broad.mit.edu	37	19	58724308	58724308	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:58724308C>T	uc002qrq.1	+	8	2217	c.1758C>T	c.(1756-1758)ggC>ggT	p.G586G	ZNF274_uc002qrr.1_Silent_p.G554G|ZNF274_uc002qrs.1_Silent_p.G481G|ZNF274_uc010eum.1_Silent_p.G346G	NM_133502	NP_598009	Q96GC6	ZN274_HUMAN	Homo sapiens zinc finger protein 274 (ZNF274), transcript variant ZNF274c, mRNA.	587					viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		CTCACACTGGCGCTAAGCCCT	0.547000												
HTATSF1	27336	broad.mit.edu	37	X	135593613	135593613	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:135593613T>C	uc004ezw.3	+	9	2131	c.1709T>C	c.(1708-1710)cTc>cCc	p.L570P	HTATSF1_uc004ezx.3_Missense_Mutation_p.L570P	NM_001163280	NP_055315	O43719	HTSF1_HUMAN	Homo sapiens HIV-1 Tat specific factor 1 (HTATSF1), transcript variant 1, mRNA.	570	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					GAAAATGGTCTCGAGAAAGAT	0.388000												
UHRF1BP1L	23074	broad.mit.edu	37	12	100482858	100482858	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:100482858C>T	uc001tgq.3	-	7	1085	c.856G>A	c.(856-858)Gca>Aca	p.A286T	UHRF1BP1L_uc001tgr.3_Missense_Mutation_p.A286T|UHRF1BP1L_uc001tgp.3_5'UTR	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN	Homo sapiens UHRF1 binding protein 1-like (UHRF1BP1L), transcript variant 1, mRNA.	286										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TGGGCAGATGCGACTACTGTA	0.358000												
DCAF12L2	340578	broad.mit.edu	37	X	125299778	125299778	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:125299778G>A	uc004euk.2	-	0	303	c.130C>T	c.(130-132)Cgg>Tgg	p.R44W		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 2 (DCAF12L2), mRNA.	44										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GTCGCCGGCCGCTTCTGCTTC	0.731000												
LRP12	29967	broad.mit.edu	37	8	105509882	105509882	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:105509882G>A	uc003yma.3	-	4	1025	c.898C>T	c.(898-900)Cgc>Tgc	p.R300C	LRP12_uc003ymb.3_Missense_Mutation_p.R281C|LRP12_uc003ylz.3_5'Flank	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 12 (LRP12), transcript variant 1, mRNA.	300	CUB 2.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TCAGTGAAGCGTAAAATGACT	0.378000												
RAB11FIP1	80223	broad.mit.edu	37	8	37730004	37730004	+	Silent	SNP	C	C	T	rs148197928	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:37730004C>T	uc003xkm.2	-	3	2372	c.2316G>A	c.(2314-2316)gcG>gcA	p.A772A	RAB11FIP1_uc003xkn.2_Intron|RAB11FIP1_uc003xkl.2_Silent_p.A101A|RAB11FIP1_uc003xko.1_Silent_p.A101A|RAB11FIP1_uc003xkp.1_Intron	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	Homo sapiens RAB11 family interacting protein 1 (class I) (RAB11FIP1), transcript variant 3, mRNA.	772					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			GAAGAGGGGGCGCCACTTCTT	0.567000												
APOL6	80830	broad.mit.edu	37	22	36055294	36055294	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:36055294C>T	uc003aoe.3	+	2	977	c.683C>T	c.(682-684)gCg>gTg	p.A228V	APOL6_uc003aod.3_Non-coding_Transcript	NM_030641	NP_085144	Q9BWW8	APOL6_HUMAN	Homo sapiens apolipoprotein L, 6 (APOL6), mRNA.	228					lipoprotein metabolic process	cytoplasm|extracellular region	lipid binding|lipid transporter activity			haematopoietic_and_lymphoid_tissue(1)|lung(4)	5						ACAACACTGGCGATGACCAAA	0.572000												
SLC7A14	57709	broad.mit.edu	37	3	170184883	170184883	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:170184883G>A	uc003fgz.2	-	7	2592	c.2276C>T	c.(2275-2277)gCc>gTc	p.A759V	CLDN11_uc011bpt.1_Intron|CLDN11_uc003fha.1_5'Flank	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	Homo sapiens solute carrier family 7 (orphan transporter), member 14 (SLC7A14), mRNA.	759						integral to membrane	amino acid transmembrane transporter activity	p.E758G(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			TGCAATCAGGGCCTCTGAGTT	0.443000												
ENPP6	133121	broad.mit.edu	37	4	185039015	185039015	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:185039015C>T	uc003iwc.3	-	3	714	c.572G>A	c.(571-573)cGc>cAc	p.R191H		NM_153343	NP_699174	Q6UWR7	ENPP6_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 6 (ENPP6), mRNA.	191					lipid catabolic process	extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		CACGTCAATGCGCTCATGGTA	0.597000												
ZFP161	7541	broad.mit.edu	37	18	5292149	5292149	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:5292149T>C	uc002kmq.3	-	3	220	c.58A>G	c.(58-60)Act>Gct	p.T20A	ZFP161_uc002kmr.3_Missense_Mutation_p.T20A|ZFP161_uc010dkp.3_Missense_Mutation_p.T20A|ZFP161_uc021ugn.1_Missense_Mutation_p.T20A	NM_001243702	NP_001230631	O43829	ZF161_HUMAN	Homo sapiens zinc finger protein 161 homolog (mouse) (ZFP161), transcript variant 3, mRNA.	20					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)	22						AGAAACAGAGTTTTATGATCA	0.308000												
FN1	2335	broad.mit.edu	37	2	216269111	216269111	+	Splice_Site	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:216269111C>T	uc002vfa.3	-	20	3519	c.3253_splice	c.e20+1	p.L1085_splice	FN1_uc002vfc.3_Splice_Site_p.L1085_splice|FN1_uc002vfe.3_Splice_Site_p.L1085_splice|FN1_uc002vff.3_Splice_Site_p.L1085_splice|FN1_uc002vfg.3_Splice_Site_p.L1085_splice|FN1_uc002vfh.3_Splice_Site_p.L1085_splice|FN1_uc002vfi.3_Splice_Site_p.L1085_splice|FN1_uc002vfj.3_Splice_Site_p.L1085_splice|FN1_uc002vfb.3_Splice_Site_p.L1085_splice	NM_212482	NP_997647	P02751	FINC_HUMAN	Homo sapiens fibronectin 1 (FN1), transcript variant 1, mRNA.	1085					acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTTCAGCTTACGTGTGGTAAA	0.383000												
AGBL1	123624	broad.mit.edu	37	15	87099509	87099509	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:87099509G>A	uc002blz.1	+	20	2992	c.2912G>A	c.(2911-2913)gGc>gAc	p.G971D		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	971					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						CCAGTGGATGGCCTTCAGGTA	0.458000												
OR6K2	81448	broad.mit.edu	37	1	158669993	158669993	+	Silent	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:158669993A>G	uc001fsu.1	-	0	450	c.450T>C	c.(448-450)tgT>tgC	p.C150C		NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 2 (OR6K2), mRNA.	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					TGATAAAGCCACAAACACAGC	0.478000												
LMO3	55885	broad.mit.edu	37	12	16704207	16704207	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:16704207C>T	uc010shz.2	-	5	678	c.453G>A	c.(451-453)acG>acA	p.T151T	LMO3_uc001rdj.2_Silent_p.T140T|LMO3_uc010shy.2_Silent_p.T147T|LMO3_uc001rdk.2_Silent_p.T129T|LMO3_uc001rdl.2_Silent_p.T129T|LMO3_uc009zii.2_Non-coding_Transcript|LMO3_uc001rdn.2_Silent_p.T129T|LMO3_uc001rdm.2_Silent_p.T129T|LMO3_uc009zij.2_Non-coding_Transcript|LMO3_uc001rdo.2_Non-coding_Transcript|LMO3_uc001rdp.2_Non-coding_Transcript|LMO3_uc009zik.2_Non-coding_Transcript	NM_001243613	NP_001230542	Q8TAP4	LMO3_HUMAN	Homo sapiens LIM domain only 3 (rhombotin-like 2) (LMO3), transcript variant 7, mRNA.	129					regulation of transcription, DNA-dependent|transcription, DNA-dependent		zinc ion binding			endometrium(2)|large_intestine(2)|skin(1)	5		Hepatocellular(102;0.244)				CCTCGTAGTCCGTCTGGCAAA	0.348000												
LRP2	4036	broad.mit.edu	37	2	170037982	170037982	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:170037982G>A	uc002ues.3	-	51	10358	c.10145C>T	c.(10144-10146)gCa>gTa	p.A3382V		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	3382					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GTGGGCATCTGCCCAGTAGAG	0.408000												
PDLIM5	10611	broad.mit.edu	37	4	95578591	95578591	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:95578591C>T	uc003hti.3	+	10	1629	c.1478C>T	c.(1477-1479)gCg>gTg	p.A493V	PDLIM5_uc011cdx.1_Missense_Mutation_p.A390V|PDLIM5_uc003htj.3_Missense_Mutation_p.A168V|PDLIM5_uc003htk.3_Missense_Mutation_p.A522V|PDLIM5_uc011cdy.2_Missense_Mutation_p.A371V|PDLIM5_uc003hth.3_Missense_Mutation_p.A384V|PDLIM5_uc003htl.3_Missense_Mutation_p.A168V	NM_006457	NP_006448	Q96HC4	PDLI5_HUMAN	Homo sapiens PDZ and LIM domain 5 (PDLIM5), transcript variant 1, mRNA.	493	LIM zinc-binding 2.				regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		GTCATCAGTGCGTTGAAACAA	0.373000												
ABCA5	23461	broad.mit.edu	37	17	67252377	67252377	+	Missense_Mutation	SNP	T	T	G	rs11544716		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:67252377T>G	uc002jif.2	-	27	4997	c.3779A>C	c.(3778-3780)gAc>gCc	p.D1260A	ABCA5_uc002jib.2_Missense_Mutation_p.D226A|ABCA5_uc002jic.2_Missense_Mutation_p.D483A|ABCA5_uc002jid.2_Missense_Mutation_p.D177A|ABCA5_uc002jie.2_Non-coding_Transcript|ABCA5_uc002jig.2_Missense_Mutation_p.D1260A	NM_018672	NP_758424	Q8WWZ7	ABCA5_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 5 (ABCA5), transcript variant 1, mRNA.	1260			D -> G (in dbSNP:rs11544716).		cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					ATCCTCATTGTCTGGTGGTTC	0.333000												
HHIPL2	79802	broad.mit.edu	37	1	222717211	222717211	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:222717211G>A	uc001hnh.1	-	1	700	c.642C>T	c.(640-642)aaC>aaT	p.N214N		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	Homo sapiens HHIP-like 2 (HHIPL2), mRNA.	214					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		TCCTCAGCCCGTTGGCCACCT	0.617000												
FIG4	9896	broad.mit.edu	37	6	110146311	110146311	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:110146311C>T	uc003ptt.2	+	22	2782	c.2567C>T	c.(2566-2568)tCg>tTg	p.S856L	FIG4_uc011eau.1_Missense_Mutation_p.S550L	NM_014845	NP_055660	Q92562	FIG4_HUMAN	Homo sapiens FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae) (FIG4), mRNA.	856					cell death	endosome membrane	protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		TCGGCTTTCTCGCAAGATAAC	0.458000												
PRAMEF14	729528	broad.mit.edu	37	1	13669154	13669154	+	Silent	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:13669154A>G	uc009vnw.1	-	3	1215	c.1032T>C	c.(1030-1032)ggT>ggC	p.G344G		NM_001099854	NP_001093324	Q5SWL7	PRA14_HUMAN	Homo sapiens PRAME family member 14 (PRAMEF14), mRNA.	344										large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCTTCAGGGCACCCATAGACA	0.547000												
ZFHX4	79776	broad.mit.edu	37	8	77763549	77763549	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:77763549C>T	uc003yau.2	+	9	4779	c.4392C>T	c.(4390-4392)ccC>ccT	p.P1464P	ZFHX4_uc003yaw.1_Silent_p.P1419P	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	1419						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P1464P(2)|p.P1464H(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCTCCTTGCCCGTGAATGGAG	0.507000										HNSCC(33;0.089)		
EFTUD1	79631	broad.mit.edu	37	15	82520574	82520574	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:82520574C>T	uc002bgt.1	-	9	1196	c.1027G>A	c.(1027-1029)Gcc>Acc	p.A343T	EFTUD1_uc002bgu.1_Missense_Mutation_p.A292T	NM_024580	NP_078856	Q7Z2Z2	ETUD1_HUMAN	Homo sapiens elongation factor Tu GTP binding domain containing 1 (EFTUD1), transcript variant 1, mRNA.	343					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						CTGCAAATGGCGTTGATCTGA	0.378000												
GTDC1	79712	broad.mit.edu	37	2	144765058	144765058	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:144765058C>T	uc002tvp.3	-	6	845	c.566G>A	c.(565-567)gGc>gAc	p.G189D	GTDC1_uc002tvo.3_Missense_Mutation_p.G189D|GTDC1_uc021vqf.1_Missense_Mutation_p.G189D|GTDC1_uc010fnn.3_Missense_Mutation_p.G189D|GTDC1_uc002tvs.3_Missense_Mutation_p.G157D|GTDC1_uc021vqg.1_Intron|GTDC1_uc002tvr.3_Missense_Mutation_p.G189D|GTDC1_uc010fno.3_Missense_Mutation_p.G60D|GTDC1_uc002tvt.2_Missense_Mutation_p.G189D	NM_001006636	NP_001158101	Q4AE62	GTDC1_HUMAN	Homo sapiens glycosyltransferase-like domain containing 1 (GTDC1), transcript variant 1, mRNA.	189					biosynthetic process		transferase activity, transferring glycosyl groups			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		TCCTTTAAGGCCGAGCATCTT	0.373000												
KCTD16	57528	broad.mit.edu	37	5	143853254	143853254	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:143853254C>T	uc003lnm.1	+	3	1493	c.864C>T	c.(862-864)tgC>tgT	p.C288C	KCTD16_uc003lnn.1_Silent_p.C288C	NM_020768	NP_065819	Q68DU8	KCD16_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 16 (KCTD16), mRNA.	288						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			CCTCACACTGCGATTGCTGCT	0.522000												
MAGEA8	4107	broad.mit.edu	37	X	149013852	149013852	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:149013852C>A	uc022cgq.1	+	0	806	c.806C>A	c.(805-807)cCt>cAt	p.P269H	MAGEA8_uc022cgo.1_Missense_Mutation_p.P269H|MAGEA8_uc004fdw.2_Missense_Mutation_p.P269H|MAGEA8_uc022cgp.1_Missense_Mutation_p.P269H	NM_005364	NP_005355	P43361	MAGA8_HUMAN	Homo sapiens melanoma antigen family A, 8 (MAGEA8), transcript variant 3, mRNA.	269	MAGE.									NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					GGCAGTGATCCTGTGCGCTAC	0.577000												
CHD2	1106	broad.mit.edu	37	15	93527700	93527700	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:93527700G>A	uc002bsp.3	+	24	3782	c.3207G>A	c.(3205-3207)atG>atA	p.M1069I	CHD2_uc002bso.1_Missense_Mutation_p.M1069I	NM_001271	NP_001262	O14647	CHD2_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 2 (CHD2), transcript variant 1, mRNA.	1069					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			AAATTTATATGCTGCCTCGAA	0.398000												
WNK1	65125	broad.mit.edu	37	12	966394	966394	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:966394T>C	uc021qss.1	+	4	2022	c.1379T>C	c.(1378-1380)aTa>aCa	p.I460T	WNK1_uc001qio.4_Missense_Mutation_p.I460T|WNK1_uc021qst.1_Missense_Mutation_p.I460T|WNK1_uc001qip.4_Missense_Mutation_p.I460T	NM_001184985	NP_001171914	Q9H4A3	WNK1_HUMAN	Homo sapiens WNK lysine deficient protein kinase 1 (WNK1), transcript variant 4, mRNA.	460	Protein kinase.				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GAAGGATGCATACGACAAAAC	0.353000												
MACF1	23499	broad.mit.edu	37	1	39926453	39926453	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:39926453C>T	uc021olw.1	+	56	16839	c.16839C>T	c.(16837-16839)ggC>ggT	p.G5613G	MACF1_uc021ols.1_Silent_p.G5108G|MACF1_uc021olt.1_Silent_p.G5111G|MACF1_uc001cde.2_5'Flank	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	7069					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|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)			TTATCGATGGCATTTTAGCAT	0.433000												
DPF3	8110	broad.mit.edu	37	14	73140989	73140989	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:73140989C>T	uc001xnc.2	-	7	843	c.830G>A	c.(829-831)cGg>cAg	p.R277Q	DPF3_uc001xnd.1_Non-coding_Transcript|DPF3_uc001xnf.2_Non-coding_Transcript|DPF3_uc010ari.1_Missense_Mutation_p.R277Q|DPF3_uc010ttq.1_Missense_Mutation_p.R287Q	NM_012074	NP_036206	Q92784	DPF3_HUMAN	Homo sapiens D4, zinc and double PHD fingers, family 3 (DPF3), mRNA.	277					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CTCTTCAGGCCGCCCACTCTT	0.567000												
OCRL	4952	broad.mit.edu	37	X	128696607	128696607	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:128696607T>C	uc004euq.3	+	11	1253	c.1088T>C	c.(1087-1089)gTa>gCa	p.V363A	OCRL_uc004eur.3_Missense_Mutation_p.V363A	NM_000276	NP_000267	Q01968	OCRL_HUMAN	Homo sapiens oculocerebrorenal syndrome of Lowe (OCRL), transcript variant a, mRNA.	363					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi stack|Golgi-associated vesicle|clathrin-coated vesicle|cytosol|early endosome	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						GTGAGATTTGTATTTCACAAC	0.393000												
VPS11	55823	broad.mit.edu	37	11	118949009	118949009	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:118949009C>T	uc010ryx.2	+	11	1924	c.1882C>T	c.(1882-1884)Cga>Tga	p.R628*	VPS11_uc010ryy.2_Nonsense_Mutation_p.R476*	NM_021729	NP_068375	Q9H270	VPS11_HUMAN	Homo sapiens vacuolar protein sorting 11 homolog (S. cerevisiae) (VPS11), mRNA.	630					protein transport	HOPS complex|endocytic vesicle|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding	p.R629*(1)		autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		CCTTGAGCTGCGACTGCAGAA	0.567000												
NTNG1	22854	broad.mit.edu	37	1	107867347	107867347	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:107867347G>A	uc001dvh.4	+	2	1408	c.690G>A	c.(688-690)gcG>gcA	p.A230A	NTNG1_uc001dvc.4_Silent_p.A230A|NTNG1_uc010out.2_Silent_p.A230A|NTNG1_uc001dvf.4_Silent_p.A230A|NTNG1_uc001dvd.1_Silent_p.A230A	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	Homo sapiens netrin G1 (NTNG1), transcript variant 1, mRNA.	230	Laminin N-terminal.				axonogenesis	anchored to plasma membrane	protein binding	p.A230V(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		ACAGGTTCGCGTTTTTTGCTG	0.428000												
DGKH	160851	broad.mit.edu	37	13	42793448	42793448	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:42793448C>T	uc001uyl.2	+	26	3363	c.3296C>T	c.(3295-3297)cCt>cTt	p.P1099L	DGKH_uc010tfh.2_Missense_Mutation_p.P1099L|DGKH_uc001uym.2_Missense_Mutation_p.P1099L|DGKH_uc001uyn.2_Non-coding_Transcript|DGKH_uc010tfi.2_Missense_Mutation_p.P854L|DGKH_uc001uyo.2_Missense_Mutation_p.P963L|DGKH_uc010tfj.2_Missense_Mutation_p.P963L|DGKH_uc001uyp.3_Non-coding_Transcript	NM_178009	NP_821077	Q86XP1	DGKH_HUMAN	Homo sapiens diacylglycerol kinase, eta (DGKH), transcript variant 2, mRNA.	1099					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		ACAGAGATTCCTTGGCTTTAT	0.393000												
SLC9A8	23315	broad.mit.edu	37	20	48503391	48503391	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:48503391G>A	uc002xuv.1	+	14	1804	c.1594G>A	c.(1594-1596)Gcc>Acc	p.A532T	SLC9A8_uc010zym.1_Missense_Mutation_p.A232T|SLC9A8_uc010gid.3_Missense_Mutation_p.A156T	NM_015266	NP_056081	Q9Y2E8	SL9A8_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 8 (SLC9A8), mRNA.	532						Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			GTGGCTGGACGCCAAGTACCT	0.622000												
PRDM2	7799	broad.mit.edu	37	1	14105506	14105506	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:14105506C>T	uc001avi.3	+	7	2072	c.1216C>T	c.(1216-1218)Cgg>Tgg	p.R406W	PRDM2_uc001avg.3_Intron|PRDM2_uc001avh.3_Missense_Mutation_p.R406W|PRDM2_uc021ogk.1_Missense_Mutation_p.R169W|PRDM2_uc001avk.3_Missense_Mutation_p.R205W|PRDM2_uc009voe.3_Intron|PRDM2_uc009vof.3_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	Homo sapiens PR domain containing 2, with ZNF domain (PRDM2), transcript variant 1, mRNA.	406						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GATTAACCGGCGGCGACATGA	0.512000												
NSD1	64324	broad.mit.edu	37	5	176665366	176665366	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:176665366G>A	uc003mfr.4	+	6	4188	c.4050G>A	c.(4048-4050)ccG>ccA	p.P1350P	NSD1_uc003mft.4_Silent_p.P1081P|NSD1_uc003mfs.1_Silent_p.P1247P|NSD1_uc011dfx.2_Silent_p.P998P	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Homo sapiens nuclear receptor binding SET domain protein 1 (NSD1), transcript variant 2, mRNA.	1350					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GGGAGGCTCCGTTTTTGGAGG	0.537000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)		
CTHRC1	115908	broad.mit.edu	37	8	104390323	104390323	+	Silent	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:104390323A>G	uc003ylk.3	+	2	540	c.441A>G	c.(439-441)ctA>ctG	p.L147L		NM_138455	NP_612464	Q96CG8	CTHR1_HUMAN	Homo sapiens collagen triple helix repeat containing 1 (CTHRC1), transcript variant 1, mRNA.	147						collagen				endometrium(1)|large_intestine(5)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)			CACTTCGGCTAAAATGCAGAA	0.383000												
YEATS2	55689	broad.mit.edu	37	3	183490118	183490118	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:183490118C>T	uc003fly.2	+	15	2168	c.1973C>T	c.(1972-1974)gCt>gTt	p.A658V		NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	Homo sapiens YEATS domain containing 2 (YEATS2), mRNA.	658					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GTTGGGTCTGCTTTACCTTCA	0.537000												
ASTN1	460	broad.mit.edu	37	1	176833575	176833575	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:176833575G>A	uc001glc.3	-	22	3942	c.3730C>T	c.(3730-3732)Cgg>Tgg	p.R1244W	ASTN1_uc001glb.1_Intron	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	1252					cell migration|neuron cell-cell adhesion	integral to membrane		p.R1244W(2)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GAGCTGCGCCGCAAGCTTATC	0.567000												
PCSK5	5125	broad.mit.edu	37	9	78686647	78686647	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:78686647C>T	uc004akc.2	+	6	1265	c.727C>T	c.(727-729)Cga>Tga	p.R243*	PCSK5_uc004ajy.2_Nonsense_Mutation_p.R243*|PCSK5_uc004ajz.3_Nonsense_Mutation_p.R243*|PCSK5_uc004aka.3_Non-coding_Transcript	NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	243	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TGAAGGAGTGCGAATGCTGGA	0.512000												
SETD1A	9739	broad.mit.edu	37	16	30976445	30976445	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:30976445G>A	uc002ead.1	+	6	2068	c.1382G>A	c.(1381-1383)cGc>cAc	p.R461H		NM_014712	NP_055527	O15047	SET1A_HUMAN	Homo sapiens SET domain containing 1A (SETD1A), mRNA.	461	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|chromosome|nuclear speck	RNA binding|histone-lysine N-methyltransferase activity|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						ACTTCCCCCCGCCCAGCCTCC	0.687000												
TP73	7161	broad.mit.edu	37	1	3624161	3624161	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:3624161G>A	uc001akp.3	+	3	345	c.235G>A	c.(235-237)Gcg>Acg	p.A79T	TP73_uc021ofb.1_Missense_Mutation_p.A79T|TP73_uc021ofc.1_Missense_Mutation_p.A79T|TP73_uc021ofd.1_Missense_Mutation_p.A79T|TP73_uc021ofe.1_Missense_Mutation_p.A79T|TP73_uc021off.1_Missense_Mutation_p.A79T|TP73_uc010nzj.2_Missense_Mutation_p.A30T|TP73_uc021ofg.1_Missense_Mutation_p.A30T|TP73_uc021ofh.1_Missense_Mutation_p.A30T|TP73_uc021ofi.1_Missense_Mutation_p.A30T|TP73_uc001akr.3_Missense_Mutation_p.A30T|TP73_uc009vlk.2_Missense_Mutation_p.A30T|TP73_uc001aks.3_Missense_Mutation_p.A30T|TP73_uc009vll.3_Missense_Mutation_p.A8T|TP73_uc010nzk.2_Missense_Mutation_p.A8T	NM_005427	NP_001191121	O15350	P73_HUMAN	Homo sapiens tumor protein p73 (TP73), transcript variant 1, mRNA.	79					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|cellular response to UV|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to X-ray|response to gamma radiation	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		GAGCAGCCGCGCGGCCTCGGC	0.677000												
HKDC1	80201	broad.mit.edu	37	10	71017128	71017128	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:71017128A>G	uc001jpf.4	+	13	2111	c.1978A>G	c.(1978-1980)Acc>Gcc	p.T660A	HKDC1_uc010qje.2_Missense_Mutation_p.T523A|HKDC1_uc009xqb.3_Non-coding_Transcript	NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN	Homo sapiens hexokinase domain containing 1 (HKDC1), mRNA.	660					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity	p.T660T(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						TACAGTGGGGACCATGATGAC	0.438000												
OR56A3	390083	broad.mit.edu	37	11	5969245	5969245	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:5969245C>T	uc010qzt.2	+	0	669	c.669C>T	c.(667-669)acC>acT	p.T223T		NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 3 (OR56A3), mRNA.	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y222H(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTCCTACACCTTCATTCTGC	0.522000												
RSPH9	221421	broad.mit.edu	37	6	43638573	43638573	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:43638573C>T	uc003ovx.2	+	5	839	c.770C>T	c.(769-771)gCg>gTg	p.A257V	RSPH9_uc003ovw.2_Missense_Mutation_p.R240C	NM_001193341	NP_001180270	Q9H1X1	RSPH9_HUMAN	Homo sapiens radial spoke head 9 homolog (Chlamydomonas) (RSPH9), transcript variant 2, mRNA.	0					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GGTGGTGCTGCGCAGCCTGCT	0.617000									Kartagener syndrome			
JAKMIP2	9832	broad.mit.edu	37	5	147012252	147012252	+	Silent	SNP	T	T	C	rs75918574		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:147012252T>C	uc010jgo.1	-	11	1915	c.1767A>G	c.(1765-1767)ctA>ctG	p.L589L	JAKMIP2_uc003loq.1_Silent_p.L589L|JAKMIP2_uc011dbx.1_Silent_p.L547L|JAKMIP2_uc003lor.1_Silent_p.L568L|LOC153469_uc003lop.1_Intron	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA.	589						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCTAGCTCTAGGTTTCGAA	0.383000												
PLXNA1	5361	broad.mit.edu	37	3	126733466	126733466	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:126733466C>T	uc003ejg.3	+	11	2750	c.2750C>T	c.(2749-2751)gCg>gTg	p.A917V		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	Homo sapiens plexin A1 (PLXNA1), mRNA.	917	IPT/TIG 1.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		TACATCAGTGCGGAGCAGTGA	0.687000												
ABL1	25	broad.mit.edu	37	9	133759406	133759406	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:133759406C>T	uc004bzw.3	+	10	1732	c.1729C>T	c.(1729-1731)Cga>Tga	p.R577*	ABL1_uc004bzv.3_Nonsense_Mutation_p.R596*	NM_005157	NP_005148	P00519	ABL1_HUMAN	Homo sapiens c-abl oncogene 1, non-receptor tyrosine kinase (ABL1), transcript variant a, mRNA.	577					DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|SH3 domain binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding	p.R577*(2)		breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	TCGAAAAGAGCGAGGTCCCCC	0.537000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""							
NOD2	64127	broad.mit.edu	37	16	50763760	50763760	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:50763760G>T	uc002egm.1	+	10	3103	c.2998G>T	c.(2998-3000)Gca>Tca	p.A1000S	NOD2_uc010vgq.1_Missense_Mutation_p.A45S	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 2 (NOD2), mRNA.	1000					JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of Notch signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of gamma-delta T cell activation|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				CTACCTAGGGGCAGAAGCCCT	0.488000												
GNAS	2778	broad.mit.edu	37	20	57485765	57485765	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:57485765C>T	uc002xzw.3	+	12	3280	c.2995C>T	c.(2995-2997)Cgt>Tgt	p.R999C	GNAS_uc021wfl.1_3'UTR|GNAS_uc002xzt.3_Missense_Mutation_p.R324C|GNAS_uc010gjq.3_Missense_Mutation_p.R297C|GNAS_uc002xzx.3_Missense_Mutation_p.R297C|GNAS_uc021wfn.1_Missense_Mutation_p.R356C|GNAS_uc021wfo.1_Missense_Mutation_p.R357C|GNAS_uc002yaa.3_Missense_Mutation_p.R341C|GNAS_uc021wfp.1_Missense_Mutation_p.R342C|GNAS_uc002yad.3_Missense_Mutation_p.R247C|GNAS_uc002yae.3_Missense_Mutation_p.R281C	NM_080425	NP_001070958	P63092	GNAS2_HUMAN	Homo sapiens GNAS complex locus (GNAS), transcript variant 2, mRNA.	356					G-protein coupled receptor protein signaling pathway|activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	GTP binding|GTPase activity|adenylate cyclase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			TGGAGATGGGCGTCACTACTG	0.577000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)		
TROAP	10024	broad.mit.edu	37	12	49722962	49722962	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:49722962C>T	uc009zlh.3	+	9	1206	c.1039C>T	c.(1039-1041)Cgg>Tgg	p.R347W	TROAP_uc001rtx.4_Missense_Mutation_p.R347W	NM_005480	NP_005471	Q12815	TROAP_HUMAN	Homo sapiens trophinin associated protein (tastin) (TROAP), transcript variant 1, mRNA.	347					cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						TTCAGTGTTGCGGCGTCTCAC	0.567000												
BRPF3	27154	broad.mit.edu	37	6	36168834	36168834	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:36168834C>T	uc003olv.4	+	1	959	c.735C>T	c.(733-735)ggC>ggT	p.G245G	BRPF3_uc010jwb.3_Silent_p.G245G|BRPF3_uc011dtj.2_Non-coding_Transcript|BRPF3_uc010jwc.3_Non-coding_Transcript|BRPF3_uc011dtk.2_Silent_p.G245G	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN	Homo sapiens bromodomain and PHD finger containing, 3 (BRPF3), mRNA.	245					histone H3 acetylation|platelet activation|platelet degranulation	MOZ/MORF histone acetyltransferase complex|cytosol|extracellular region	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						AGTGCTATGGCGTCCCATACA	0.552000												
PCDHB8	56128	broad.mit.edu	37	5	140558562	140558562	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:140558562A>G	uc011dai.2	+	0	1192	c.947A>G	c.(946-948)tAt>tGt	p.Y316C	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	316	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTCAGTCCTATGAAGTCAAT	0.403000												
BOC	91653	broad.mit.edu	37	3	113005615	113005615	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:113005615C>T	uc003dzx.3	+	19	3872	c.3251C>T	c.(3250-3252)cCc>cTc	p.P1084L	BOC_uc003dzy.3_Missense_Mutation_p.P1084L|BOC_uc003dzz.3_Missense_Mutation_p.P1085L|BOC_uc003eab.3_Missense_Mutation_p.P785L|BOC_uc003eac.3_Intron	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	Homo sapiens Boc homolog (mouse) (BOC), mRNA.	1084					cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			CCCCAGCACCCCGTAGGGGCC	0.597000												
GLYR1	84656	broad.mit.edu	37	16	4873830	4873830	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:4873830C>T	uc002cxx.4	-	5	653	c.616G>A	c.(616-618)Gca>Aca	p.A206T	GLYR1_uc002cxy.3_Non-coding_Transcript|GLYR1_uc002cxz.1_Missense_Mutation_p.A137T|GLYR1_uc002cya.2_Missense_Mutation_p.A206T|GLYR1_uc010uxv.1_Missense_Mutation_p.A125T	NM_032569	NP_115958	Q49A26	GLYR1_HUMAN	Homo sapiens glyoxylate reductase 1 homolog (Arabidopsis) (GLYR1), mRNA.	206					pentose-phosphate shunt	nucleus	DNA binding|coenzyme binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						ACCTCGCTTGCGGTTGGCTGC	0.542000												
IL25	64806	broad.mit.edu	37	14	23845030	23845030	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:23845030C>T	uc001wjr.3	+	1	733	c.475C>T	c.(475-477)Cgc>Tgc	p.R159C	IL25_uc001wjq.3_Missense_Mutation_p.R143C|CMTM5_uc010akn.3_5'Flank|CMTM5_uc001wju.3_5'Flank|CMTM5_uc010ako.3_5'Flank|CMTM5_uc001wjs.3_5'Flank|CMTM5_uc001wjt.3_5'Flank|CMTM5_uc010akm.3_5'Flank	NM_022789	NP_073626	Q9H293	IL25_HUMAN	Homo sapiens interleukin 25 (IL25), transcript variant 1, mRNA.	159					inflammatory response	extracellular space|membrane	cytokine activity|interleukin-17E receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)		CTGCCTGGAGCGCAGGCTGTA	0.627000												
ATXN7	6314	broad.mit.edu	37	3	63975975	63975975	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:63975975C>T	uc003dlv.3	+	9	2038	c.1485C>T	c.(1483-1485)ggC>ggT	p.G495G	ATXN7_uc003dlw.4_Silent_p.G495G|ATXN7_uc021wzy.1_Silent_p.G495G|ATXN7_uc011bfn.2_Silent_p.G350G	NM_000333	NP_000324	O15265	ATX7_HUMAN	Homo sapiens ataxin 7 (ATXN7), transcript variant SCA7a, mRNA.	495					cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding	p.G495G(3)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		GTGAGGAGGGCGAAGGCGATG	0.552000												
MAPK7	5598	broad.mit.edu	37	17	19286236	19286236	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:19286236C>T	uc002gvn.3	+	5	2660	c.2274C>T	c.(2272-2274)ggC>ggT	p.G758G	MAPK7_uc002gvo.3_Silent_p.G619G|MAPK7_uc002gvq.3_Silent_p.G758G|MAPK7_uc002gvp.3_Silent_p.G758G|DM110819_uc010vyt.1_5'Flank	NM_139033	NP_620601	Q13164	MK07_HUMAN	Homo sapiens mitogen-activated protein kinase 7 (MAPK7), transcript variant 1, mRNA.	758	May not be required for kinase activity; required to stimulate MEF2C activity (By similarity).				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|cell cycle|cell differentiation|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					TCGACATGGGCGTGGCTGATG	0.592000												
ACSL5	51703	broad.mit.edu	37	10	114173039	114173039	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:114173039C>T	uc001kzu.3	+	11	1337	c.1225C>T	c.(1225-1227)Cga>Tga	p.R409*	ACSL5_uc001kzs.3_Nonsense_Mutation_p.R353*|ACSL5_uc001kzt.3_Nonsense_Mutation_p.R353*|ACSL5_uc009xxz.3_Nonsense_Mutation_p.R353*|ACSL5_uc010qrj.2_Nonsense_Mutation_p.R135*	NM_016234	NP_976314	Q9ULC5	ACSL5_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 5 (ACSL5), transcript variant 1, mRNA.	353					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		CGCGGTGCCTCGACTCCTTAA	0.493000												
SP110	3431	broad.mit.edu	37	2	231033861	231033861	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:231033861G>A	uc002vqg.3	-	18	2361	c.2121C>T	c.(2119-2121)ggC>ggT	p.G707G	SP110_uc002vqh.3_Silent_p.G683G	NM_080424	NP_536349	Q9HB58	SP110_HUMAN	Homo sapiens SP110 nuclear body protein (SP110), transcript variant c, mRNA.	683					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding	p.G707S(1)		breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		TCCAGAAACCGCCGTCATTGG	0.488000												
GTF2H3	2967	broad.mit.edu	37	12	124144112	124144112	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:124144112C>A	uc001ufo.1	+	9	691	c.665C>A	c.(664-666)tCt>tAt	p.S222Y	GTF2H3_uc010tau.1_Missense_Mutation_p.S181Y	NM_001516	NP_001507	Q13889	TF2H3_HUMAN	Homo sapiens general transcription factor IIH, polypeptide 3, 34kDa (GTF2H3), mRNA.	222					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	core TFIIH complex|holo TFIIH complex	damaged DNA binding|metal ion binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.1e-05)|Epithelial(86;0.000388)|all cancers(50;0.00362)		CAGATGCCTTCTCTTCTGCAG	0.552000								Nucleotide excision repair (NER)				
HORMAD1	84072	broad.mit.edu	37	1	150680846	150680846	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:150680846C>T	uc001evk.2	-	8	551	c.433G>A	c.(433-435)Gac>Aac	p.D145N	HORMAD1_uc001evl.2_Missense_Mutation_p.D138N|HORMAD1_uc001evm.2_Missense_Mutation_p.D65N	NM_032132	NP_115508	Q86X24	HORM1_HUMAN	Homo sapiens HORMA domain containing 1 (HORMAD1), transcript variant 1, mRNA.	145	HORMA.				blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			TTCTTGGTGTCAGTAGACAAC	0.328000												
AHNAK2	113146	broad.mit.edu	37	14	105413326	105413326	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:105413326G>A	uc010axc.1	-	6	8582	c.8462C>T	c.(8461-8463)cCg>cTg	p.P2821L	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.P2721L	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	2821						nucleus		p.P2821L(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCCGAATGACGGCATCTTGAA	0.607000												
PTGS1	5742	broad.mit.edu	37	9	125143979	125143979	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:125143979C>T	uc004bmg.1	+	6	850	c.715C>T	c.(715-717)Cgt>Tgt	p.R239C	PTGS1_uc011lys.1_Missense_Mutation_p.R214C|PTGS1_uc010mwb.1_Missense_Mutation_p.R130C|PTGS1_uc004bmf.1_Missense_Mutation_p.R239C|PTGS1_uc004bmh.1_Missense_Mutation_p.R130C|PTGS1_uc011lyt.1_Missense_Mutation_p.R130C	NM_000962	NP_000953	P23219	PGH1_HUMAN	Homo sapiens prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) (PTGS1), transcript variant 1, mRNA.	239					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	Golgi apparatus|endoplasmic reticulum membrane|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)|gamma-Homolinolenic acid(DB00154)	CAATCTGGAGCGTCAGTATCA	0.587000												
ATAD2B	54454	broad.mit.edu	37	2	24033337	24033337	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:24033337C>T	uc002rek.4	-	17	2599	c.2303G>A	c.(2302-2304)cGc>cAc	p.R768H	ATAD2B_uc002rei.4_Missense_Mutation_p.R768H|ATAD2B_uc010yki.2_Non-coding_Transcript|ATAD2B_uc002rej.4_5'UTR	NM_017552	NP_060022	Q9ULI0	ATD2B_HUMAN	Homo sapiens ATPase family, AAA domain containing 2B (ATAD2B), transcript variant 1, mRNA.	768							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGCAATAAGCGTGGCCTGTA	0.413000												
ARSG	22901	broad.mit.edu	37	17	66343311	66343311	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:66343311G>A	uc002jhc.2	+	3	1248	c.452G>A	c.(451-453)cGt>cAt	p.R151H		NM_014960	NP_055775	Q96EG1	ARSG_HUMAN	Homo sapiens arylsulfatase G (ARSG), mRNA.	151					sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding			NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			CCCAACTTCCGTGGTAAGAAT	0.463000												
HAUS4	54930	broad.mit.edu	37	14	23416833	23416833	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:23416833G>A	uc001whw.3	-	7	1065	c.816C>T	c.(814-816)tgC>tgT	p.C272C	HAUS4_uc001who.3_Non-coding_Transcript|HAUS4_uc001wht.3_Silent_p.C272C|HAUS4_uc001whu.3_Silent_p.C227C|HAUS4_uc001whv.3_Silent_p.C148C|HAUS4_uc001whq.3_Silent_p.C146C	NM_001166269	NP_060285	Q9H6D7	HAUS4_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 4 (HAUS4), transcript variant 1, mRNA.	272					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|microtubule|spindle				breast(3)|cervix(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)	14						TCATAGCACCGCACTTGACTT	0.512000												
ELMO1	9844	broad.mit.edu	37	7	37264526	37264526	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:37264526G>A	uc022abv.1	-	8	1369	c.659C>T	c.(658-660)gCg>gTg	p.A220V	ELMO1_uc011kbc.2_Missense_Mutation_p.A124V|ELMO1_uc003tfk.2_Missense_Mutation_p.A220V|ELMO1_uc010kxg.2_Missense_Mutation_p.A220V	NM_001206482	NP_001193411	Q92556	ELMO1_HUMAN	Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA.	220					Rac protein signal transduction|actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	p.A220S(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GATCTCCTGCGCCACTTTCTG	0.527000												
TRAFD1	10906	broad.mit.edu	37	12	112589844	112589844	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:112589844G>A	uc001ttp.3	+	9	1605	c.1519G>A	c.(1519-1521)Gcc>Acc	p.A507T	TRAFD1_uc001tto.3_Missense_Mutation_p.A507T	NM_006700	NP_006691	O14545	TRAD1_HUMAN	Homo sapiens TRAF-type zinc finger domain containing 1 (TRAFD1), transcript variant 2, mRNA.	507					negative regulation of innate immune response	intracellular	protein binding|zinc ion binding			kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						TGGGGCCATAGCCCCTGGGCA	0.582000												
GAB1	2549	broad.mit.edu	37	4	144359168	144359168	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:144359168G>A	uc003ijd.3	+	3	969	c.610G>A	c.(610-612)Gca>Aca	p.A204T	GAB1_uc003ije.3_Missense_Mutation_p.A204T|GAB1_uc011chq.2_Missense_Mutation_p.A101T	NM_207123	NP_997006	Q13480	GAB1_HUMAN	Homo sapiens GRB2-associated binding protein 1 (GAB1), transcript variant 1, mRNA.	204				A -> G (in Ref. 1; AAC50380).	cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity	p.A204T(2)		breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					TGCTGATTCTGCAAAATCCAC	0.353000												
LDLRAD3	143458	broad.mit.edu	37	11	36250849	36250849	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:36250849G>A	uc001mwk.1	+	5	977	c.940G>A	c.(940-942)Gtg>Atg	p.V314M	LDLRAD3_uc010rey.1_Missense_Mutation_p.V265M|LDLRAD3_uc010rez.1_Missense_Mutation_p.V193M|LDLRAD3_uc010rfa.1_Non-coding_Transcript	NM_174902	NP_777562	Q86YD5	LRAD3_HUMAN	Homo sapiens low density lipoprotein receptor class A domain containing 3 (LDLRAD3), mRNA.	314						integral to membrane	receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				CCTCCTGAGCGTGGAAGACAC	0.662000												
DST	667	broad.mit.edu	37	6	56323854	56323854	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:56323854C>T	uc003pcy.4	-	83	15573	c.15465G>A	c.(15463-15465)acG>acA	p.T5155T	DST_uc003pcv.4_Silent_p.T277T|DST_uc003pcw.4_Silent_p.T238T|DST_uc003pcx.4_Silent_p.T201T	NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	7554					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCCTCTGGGGCGTGGGGATTT	0.502000												
RASSF4	83937	broad.mit.edu	37	10	45486467	45486467	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:45486467G>A	uc001jbp.3	+	7	2399	c.850G>A	c.(850-852)Gcc>Acc	p.A284T	RASSF4_uc001jbo.3_Missense_Mutation_p.A253T|RASSF4_uc009xmn.3_Missense_Mutation_p.A183T|RASSF4_uc001jbq.3_Missense_Mutation_p.A150T|RASSF4_uc001jbt.3_Missense_Mutation_p.A210T			Q9H2L5	RASF4_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 4 (RASSF4), mRNA.	253	SARAH.				cell cycle|signal transduction		protein binding	p.A253T(1)		NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						TGAGAAGATCGCCAGGATCTT	0.522000												
FKBP15	23307	broad.mit.edu	37	9	115959248	115959248	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:115959248C>T	uc004bgs.2	-	8	981	c.828G>A	c.(826-828)acG>acA	p.T276T	FKBP15_uc010muu.1_Silent_p.T340T|FKBP15_uc011lxd.1_Silent_p.T208T|FKBP15_uc010mut.1_Silent_p.T144T|FKBP15_uc004bgt.2_Silent_p.T276T	NM_015258	NP_056073	Q5T1M5	FKB15_HUMAN	Homo sapiens FK506 binding protein 15, 133kDa (FKBP15), mRNA.	276	PPIase FKBP-type.				endocytosis|protein folding	axon|early endosome	actin binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						GGATCGAGTCCGTTGCTTGAG	0.498000												
YLPM1	56252	broad.mit.edu	37	14	75265781	75265781	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:75265781C>T	uc001xqj.4	+	4	3905	c.3781C>T	c.(3781-3783)Cga>Tga	p.R1261*	YLPM1_uc001xql.4_Non-coding_Transcript	NM_019589	NP_062535	P49750	YLPM1_HUMAN	Homo sapiens YLP motif containing 1 (YLPM1), mRNA.	1066					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TGGAGATAGGCGAGGCCCTTG	0.488000												
WWC3	55841	broad.mit.edu	37	X	10092342	10092342	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:10092342G>A	uc004csx.4	+	12	1987	c.1789G>A	c.(1789-1791)Gcc>Acc	p.A597T	WWC3_uc010nds.3_Missense_Mutation_p.A261T|WWC3_uc010ndt.3_Non-coding_Transcript	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	Homo sapiens WWC family member 3 (WWC3), mRNA.	597										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						CGGAGACACGGCCAGTAACGG	0.597000												
QSOX2	169714	broad.mit.edu	37	9	139113754	139113754	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:139113754C>T	uc010nbi.2	-	5	747	c.709G>A	c.(709-711)Gtg>Atg	p.V237M		NM_181701	NP_859052	Q6ZRP7	QSOX2_HUMAN	Homo sapiens quiescin Q6 sulfhydryl oxidase 2 (QSOX2), mRNA.	237					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)		CGGGTCACCACGATGCTTTCA	0.517000												
ZFHX3	463	broad.mit.edu	37	16	72991508	72991508	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:72991508C>T	uc002fck.3	-	1	3210	c.2537G>A	c.(2536-2538)cGc>cAc	p.R846H	ZFHX3_uc002fcl.3_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	846				RHLG -> HHRV (in Ref. 1).	muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GCCCAGGTGGCGGTTGTGTTG	0.562000												
GABRA3	2556	broad.mit.edu	37	X	151358341	151358341	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:151358341G>A	uc010ntk.1	-	8	1244	c.1004C>T	c.(1003-1005)gCg>gTg	p.A335V		NM_000808	NP_000799	P34903	GBRA3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 3 (GABRA3), mRNA.	335					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CATGGCCGTCGCATATGCCAC	0.468000												
C8orf86	389649	broad.mit.edu	37	8	38386081	38386081	+	Silent	SNP	A	A	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:38386081A>C	uc003xlx.1	-	0	100	c.75T>G	c.(73-75)ctT>ctG	p.L25L		NM_207412	NP_997295	Q6ZUL3	CH086_HUMAN	Homo sapiens chromosome 8 open reading frame 86 (C8orf86), mRNA.	25										breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	5						GGCAGTCTCTAAGGCTCCTGC	0.557000												
ROR2	4920	broad.mit.edu	37	9	94487389	94487389	+	Splice_Site	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:94487389C>T	uc004arj.2	-	9	1586	c.1387_splice	c.e9-1	p.A463_splice	ROR2_uc004ari.1_Splice_Site_p.A323_splice	NM_004560	NP_004551	Q01974	ROR2_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 2 (ROR2), mRNA.	463					negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity			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						TTGAGTTTGGCCTGTCAAGAA	0.587000												
HHAT	55733	broad.mit.edu	37	1	210591562	210591562	+	Missense_Mutation	SNP	G	G	A	rs148639278	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:210591562G>A	uc010psr.2	+	5	857	c.752G>A	c.(751-753)cGc>cAc	p.R251H	HHAT_uc009xcx.3_Missense_Mutation_p.R250H|HHAT_uc010psq.2_Missense_Mutation_p.R113H|HHAT_uc009xcy.3_Missense_Mutation_p.R185H|HHAT_uc010pss.2_Missense_Mutation_p.R205H|HHAT_uc010pst.2_Missense_Mutation_p.R187H|HHAT_uc001hhz.4_Missense_Mutation_p.R250H|HHAT_uc021pip.1_Missense_Mutation_p.R250H|HHAT_uc010psu.2_Missense_Mutation_p.R185H	NM_001170587	NP_001164058	Q5VTY9	HHAT_HUMAN	Homo sapiens hedgehog acyltransferase (HHAT), transcript variant 5, mRNA.	250					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		GGGCTGGGCCGCCTTCTTTGC	0.582000												
AVIL	10677	broad.mit.edu	37	12	58197057	58197057	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:58197057G>A	uc001sqj.2	-	14	1964	c.1935C>T	c.(1933-1935)gaC>gaT	p.D645D	AVIL_uc009zqe.2_Silent_p.D638D|AVIL_uc001sqk.1_Silent_p.D223D	NM_006576	NP_006567	O75366	AVIL_HUMAN	Homo sapiens advillin (AVIL), mRNA.	645	Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					GGAGCATCACGTCAGTAGGGT	0.478000											OREG0021955	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
BAZ2B	29994	broad.mit.edu	37	2	160304907	160304907	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:160304907C>T	uc002uao.3	-	4	753	c.348G>A	c.(346-348)tgG>tgA	p.W116*	BAZ2B_uc002uap.3_Nonsense_Mutation_p.W114*|BAZ2B_uc002uas.1_Nonsense_Mutation_p.W53*|BAZ2B_uc002uau.1_Nonsense_Mutation_p.W114*|BAZ2B_uc002uaq.1_Nonsense_Mutation_p.W44*|BAZ2B_uc002uat.4_Nonsense_Mutation_p.W53*|BAZ2B_uc010fop.1_Nonsense_Mutation_p.W114*	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2B (BAZ2B), mRNA.	116					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CAGTTGTTCGCCACCATTCTG	0.388000												
FAM129A	116496	broad.mit.edu	37	1	184777283	184777283	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:184777283C>T	uc001gra.3	-	9	1454	c.1260G>A	c.(1258-1260)ctG>ctA	p.L420L	FAM129A_uc001grb.1_Silent_p.L183L|FAM129A_uc009wyh.1_Silent_p.L248L|FAM129A_uc009wyi.1_Silent_p.L218L	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA.	420					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TGAGATCCTGCAGGCGCTCGT	0.522000												
SALL4	57167	broad.mit.edu	37	20	50408447	50408447	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:50408447G>A	uc002xwh.4	-	1	676	c.575C>T	c.(574-576)gCg>gTg	p.A192V	SALL4_uc010gii.3_Missense_Mutation_p.A192V|SALL4_uc002xwi.4_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.	192					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTGATTCACCGCCACCTTGGT	0.612000												
RBMS1	5937	broad.mit.edu	37	2	161349809	161349809	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:161349809C>T	uc002ubo.3	-	0	510	c.66G>A	c.(64-66)ctG>ctA	p.L22L	RBMS1_uc002ubn.3_Silent_p.L22L|RBMS1_uc002ubi.4_Silent_p.L22L|RBMS1_uc002ubm.3_5'UTR|RBMS1_uc002ubp.3_Silent_p.L22L|RBMS1_uc010fox.2_Silent_p.L22L	NM_016836	NP_058520	P29558	RBMS1_HUMAN	Homo sapiens RNA binding motif, single stranded interacting protein 1 (RBMS1), transcript variant 1, mRNA.	22					DNA replication|RNA processing	nucleus	RNA binding|double-stranded DNA binding|nucleotide binding|protein binding|single-stranded DNA binding		PLA2R1/RBMS1(2)								CCTTGGCTTGCAGATACTGGG	0.677000												
COPA	1314	broad.mit.edu	37	1	160261166	160261166	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:160261166G>A	uc001fvv.4	-	30	3800	c.3406C>T	c.(3406-3408)Cgc>Tgc	p.R1136C	COPA_uc009wti.3_Missense_Mutation_p.R1127C	NM_001098398	NP_001091868	P53621	COPA_HUMAN	Homo sapiens coatomer protein complex, subunit alpha (COPA), transcript variant 1, mRNA.	1127					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCTAGTAGGCGCCGAGCAAAG	0.547000											OREG0013929	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
KLHL31	401265	broad.mit.edu	37	6	53516493	53516493	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:53516493G>A	uc003pcb.4	-	2	1949	c.1808C>T	c.(1807-1809)gCc>gTc	p.A603V	AX746830_uc003pcc.1_5'UTR	NM_001003760	NP_001003760	Q9H511	KLH31_HUMAN	Homo sapiens kelch-like 31 (Drosophila) (KLHL31), mRNA.	603					regulation of transcription, DNA-dependent|transcription, DNA-dependent					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					GCCGACAGTGGCCTCGGGTAG	0.612000											OREG0017507	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
HNRNPC	3183	broad.mit.edu	37	14	21702318	21702318	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:21702318C>T	uc001vzy.3	-	2	279	c.35G>A	c.(34-36)cGc>cAc	p.R12H	HNRNPC_uc001vzw.3_Missense_Mutation_p.R12H|HNRNPC_uc001wad.3_Missense_Mutation_p.R12H|HNRNPC_uc001vzx.3_Non-coding_Transcript|HNRNPC_uc001vzz.3_Missense_Mutation_p.R12H|HNRNPC_uc001waa.3_Missense_Mutation_p.R12H|HNRNPC_uc010ail.3_Missense_Mutation_p.R12H|HNRNPC_uc010tlq.2_Non-coding_Transcript|HNRNPC_uc001wac.3_Missense_Mutation_p.R12H|HNRNPC_uc001wae.3_Missense_Mutation_p.R12H	NM_031314	NP_112604	P07910	HNRPC_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C (C1/C2) (HNRNPC), transcript variant 1, mRNA.	12						catalytic step 2 spliceosome|nucleoplasm	RNA binding|identical protein binding|nucleotide binding			breast(1)|liver(1)|lung(6)|skin(1)	9	all_cancers(95;0.00176)		Epithelial(56;1.08e-06)|all cancers(55;8.95e-06)	GBM - Glioblastoma multiforme(265;0.00783)		GTTCATGGAGCGAGGATCTGT	0.428000												
ZBED1	9189	broad.mit.edu	37	X	2408097	2408097	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:2408097C>T	uc022brx.1	-	0	664	c.664G>A	c.(664-666)Gcc>Acc	p.A222T	DHRSX_uc004cqf.4_Intron|ZBED1_uc004cqh.2_Missense_Mutation_p.A222T|ZBED1_uc004cqg.2_Missense_Mutation_p.A222T|ZBED1_uc022brw.1_Missense_Mutation_p.A222T	NM_004729	NP_004720	O96006	ZBED1_HUMAN	Homo sapiens zinc finger, BED-type containing 1 (ZBED1), transcript variant 2, mRNA.	222						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CAGTTGGGGGCGCCCAGGCCC	0.647000												
UTRN	7402	broad.mit.edu	37	6	144613000	144613000	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:144613000C>T	uc003qkt.3	+	0	128	c.36C>T	c.(34-36)gaC>gaT	p.D12D	UTRN_uc010khq.1_Silent_p.D12D	NM_007124	NP_009055	P46939	UTRO_HUMAN	Homo sapiens utrophin (UTRN), mRNA.	12	Actin-binding.				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	p.P11H(1)		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)		CCAGTCCTGACAATGGGCAGA	0.388000												
TRPM2	7226	broad.mit.edu	37	21	45786763	45786763	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr21:45786763C>T	uc010gpt.1	+	3	650	c.550C>T	c.(550-552)Ccg>Tcg	p.P184S	TRPM2_uc002zet.1_Missense_Mutation_p.P184S|TRPM2_uc002zeu.1_Missense_Mutation_p.P184S|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Missense_Mutation_p.P184S|TRPM2_uc002zex.1_5'Flank	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	184						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CAACATGAAGCCGCGGCTGAA	0.632000												
TBC1D8	11138	broad.mit.edu	37	2	101627911	101627911	+	Splice_Site	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:101627911G>A	uc010fiv.3	-	18	3003	c.2872_splice	c.e18+1	p.G958_splice	RPL31_uc010yvu.1_Intron|RPL31_uc010yvv.1_Intron|RPL31_uc010fiu.1_Intron|TBC1D8_uc002tau.4_Splice_Site_p.G715_splice	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN	Homo sapiens TBC1 domain family, member 8 (with GRAM domain) (TBC1D8), mRNA.	958					blood circulation|positive regulation of cell proliferation	intracellular|membrane	Rab GTPase activator activity|calcium ion binding			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						AGAGGTACGTGCCATTGGGTT	0.517000												
GNB2	2783	broad.mit.edu	37	7	100275393	100275393	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:100275393G>A	uc003uwb.3	+	6	722	c.449G>A	c.(448-450)cGc>cAc	p.R150H	GNB2_uc003uwf.3_Missense_Mutation_p.R50H	NM_005273	NP_005264	P62879	GBB2_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 2 (GNB2), mRNA.	150					G-protein coupled receptor protein signaling pathway|cellular response to glucagon stimulus|energy reserve metabolic process|synaptic transmission	perinuclear region of cytoplasm|plasma membrane	GTPase activity|GTPase binding|signal transducer activity			endometrium(1)|lung(3)|ovary(2)|prostate(1)	7	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)				TCGTGTTGCCGCTTCCTGGAT	0.627000												
ZNF614	80110	broad.mit.edu	37	19	52519532	52519532	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:52519532C>T	uc002pyj.3	-	4	1721	c.1319G>A	c.(1318-1320)cGc>cAc	p.R440H	ZNF614_uc002pyi.4_Intron|ZNF614_uc010epj.3_Missense_Mutation_p.R143H	NM_025040	NP_079316	Q8N883	ZN614_HUMAN	Homo sapiens zinc finger protein 614 (ZNF614), mRNA.	440					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R440H(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		AATAAGAGTGCGCTTTGTGGT	0.408000												
MYO5B	4645	broad.mit.edu	37	18	47566549	47566549	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:47566549G>A	uc002leb.2	-	2	562	c.274C>T	c.(274-276)Cgt>Tgt	p.R92C	MYO5B_uc021ukb.1_Missense_Mutation_p.R91C	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	92	Myosin head-like.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TCCAGGAAACGGACCTTCAAA	0.478000												
SLC13A3	64849	broad.mit.edu	37	20	45212284	45212284	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:45212284G>A	uc002xsf.2	-	8	1186	c.1146C>T	c.(1144-1146)ggC>ggT	p.G382G	SLC13A3_uc010ghn.2_Silent_p.G351G|SLC13A3_uc010zxx.2_Silent_p.G284G|SLC13A3_uc010zxw.2_Silent_p.G332G|SLC13A3_uc002xsg.2_Silent_p.G335G|SLC13A3_uc010gho.2_Silent_p.G300G|SLC13A3_uc010zxv.2_Missense_Mutation_p.A5V	NM_022829	NP_073740	Q8WWT9	S13A3_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 (SLC13A3), transcript variant 1, mRNA.	382						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	CAATAGCCACGCCGGTGACAG	0.532000												
FOXF1	2294	broad.mit.edu	37	16	86544554	86544554	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:86544554G>A	uc002fjl.3	+	0	422	c.379G>A	c.(379-381)Gcc>Acc	p.A127T	FOXF1-AS1_uc021tmg.1_5'Flank|FOXF1-AS1_uc002fjk.2_5'Flank	NM_001451	NP_001442	Q12946	FOXF1_HUMAN	Homo sapiens forkhead box F1 (FOXF1), mRNA.	127					branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel 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 factor binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						CATCGACCCGGCCAGCGAGTT	0.637000												
PDZD8	118987	broad.mit.edu	37	10	119043322	119043322	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:119043322C>T	uc001lde.1	-	4	3121	c.2922G>A	c.(2920-2922)acG>acA	p.T974T		NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN	Homo sapiens PDZ domain containing 8 (PDZD8), mRNA.	974					intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		CGTTGTCTGACGTGTTGGGTG	0.463000												
LAMA4	3910	broad.mit.edu	37	6	112508790	112508790	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:112508790G>A	uc003pvu.2	-	7	1137	c.828C>T	c.(826-828)tgC>tgT	p.C276C	LAMA4_uc003pvv.2_Silent_p.C269C|LAMA4_uc003pvt.2_Silent_p.C269C	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	Homo sapiens laminin, alpha 4 (LAMA4), transcript variant 1, mRNA.	276	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GGTCCCAGACGCACTTATCAC	0.517000												
TAAR5	9038	broad.mit.edu	37	6	132910431	132910431	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:132910431C>T	uc003qdk.2	-	0	447	c.395G>A	c.(394-396)cGc>cAc	p.R132H		NM_003967	NP_003958	O14804	TAAR5_HUMAN	Homo sapiens trace amine associated receptor 5 (TAAR5), mRNA.	132					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		GGCACAGTGGCGGTCAATGGA	0.582000												
ATP2C1	27032	broad.mit.edu	37	3	130716497	130716497	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:130716497G>A	uc011bli.2	+	23	2689	c.2393G>A	c.(2392-2394)cGc>cAc	p.R798H	ATP2C1_uc011blg.2_Missense_Mutation_p.R798H|ATP2C1_uc011blh.2_Missense_Mutation_p.R759H|ATP2C1_uc003enk.3_Missense_Mutation_p.R748H|ATP2C1_uc003enl.3_Missense_Mutation_p.R764H|ATP2C1_uc003enm.3_Missense_Mutation_p.R764H|ATP2C1_uc003enn.3_Missense_Mutation_p.R748H|ATP2C1_uc003eno.3_Missense_Mutation_p.R764H|ATP2C1_uc003enp.3_Missense_Mutation_p.R764H|ATP2C1_uc003ent.3_Missense_Mutation_p.R764H|ATP2C1_uc003ens.3_Missense_Mutation_p.R764H|ATP2C1_uc003enu.3_Missense_Mutation_p.R442H	NM_001199180	NP_001186109	P98194	AT2C1_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 1 (ATP2C1), transcript variant 6, mRNA.	764					ATP biosynthetic process|Golgi calcium ion homeostasis|Golgi calcium ion transport|actin cytoskeleton reorganization|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	AAACCTCCTCGCAACTGGAAA	0.343000									Hailey-Hailey disease			
HIPK1	204851	broad.mit.edu	37	1	114499899	114499899	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:114499899G>A	uc001eem.3	+	6	1907	c.1746G>A	c.(1744-1746)gtG>gtA	p.V582V	HIPK1_uc001eel.3_Silent_p.V582V|HIPK1_uc001een.3_Silent_p.V582V|HIPK1_uc001eeo.3_Silent_p.V208V|HIPK1_uc001eep.3_Silent_p.V188V	NM_198268	NP_938010	Q86Z02	HIPK1_HUMAN	Homo sapiens homeodomain interacting protein kinase 1 (HIPK1), transcript variant 1, mRNA.	582					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCAATACAGTGCACAATCAGG	0.373000												
DHX35	60625	broad.mit.edu	37	20	37653971	37653971	+	Silent	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:37653971C>A	uc002xjh.3	+	17	1800	c.1770C>A	c.(1768-1770)gtC>gtA	p.V590V	DHX35_uc010zwa.2_Silent_p.V435V|DHX35_uc010zwc.2_Silent_p.V559V|DHX35_uc010zwb.2_Silent_p.V435V	NM_021931	NP_068750	Q9H5Z1	DHX35_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 35 (DHX35), transcript variant 1, mRNA.	590						catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				AGCTTCTTGTCAAGTTTCAAG	0.438000												
GALC	2581	broad.mit.edu	37	14	88401080	88401080	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:88401080C>T	uc001xvt.3	-	16	2161	c.2054G>A	c.(2053-2055)cGc>cAc	p.R685H	GALC_uc010tvw.1_Intron|GALC_uc010tvy.2_Missense_Mutation_p.R662H|GALC_uc010tvx.2_Missense_Mutation_p.R659H|GALC_uc010tvz.1_Intron	NM_000153	NP_000144	P54803	GALC_HUMAN	Homo sapiens galactosylceramidase (GALC), transcript variant 1, mRNA.	685					carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity	p.R685H(2)		endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TAAGTATTAGCGTGTGGCTTC	0.403000												
LRP2	4036	broad.mit.edu	37	2	170129448	170129448	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:170129448C>T	uc002ues.3	-	14	2318	c.2105G>A	c.(2104-2106)cGc>cAc	p.R702H	LRP2_uc010zdf.1_Missense_Mutation_p.R633H	NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	702	EGF-like 3.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AATGCAGTGGCGCTCATCTGT	0.483000												
DSG3	1830	broad.mit.edu	37	18	29049154	29049154	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:29049154G>A	uc002kws.3	+	11	1848	c.1739G>A	c.(1738-1740)cGc>cAc	p.R580H		NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	580					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GAGATGCCACGCAGCTTGACA	0.552000												
ARFGEF2	10564	broad.mit.edu	37	20	47614883	47614883	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:47614883C>T	uc002xtx.4	+	24	3425	c.3273C>T	c.(3271-3273)gtC>gtT	p.V1091V	ARFGEF2_uc010zyf.2_Silent_p.V384V	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA.	1091					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	Golgi membrane|cytosol	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TTGACTTTGTCCGCTGGCTGT	0.507000												
PCDH20	64881	broad.mit.edu	37	13	61986229	61986229	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:61986229G>T	uc001vid.4	-	1	2367	c.2003C>A	c.(2002-2004)gCt>gAt	p.A668D	PCDH20_uc010thj.2_Missense_Mutation_p.A668D	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	Homo sapiens protocadherin 20 (PCDH20), mRNA.	641	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		ATTTCGTCCAGCGTCAGCATC	0.448000												
NEUROD4	58158	broad.mit.edu	37	12	55420539	55420539	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:55420539G>A	uc001sgp.4	+	1	694	c.316G>A	c.(316-318)Gcc>Acc	p.A106T	NEUROD4_uc021qyr.1_Missense_Mutation_p.A106T	NM_021191	NP_067014	Q9HD90	NDF4_HUMAN	Homo sapiens neurogenic differentiation 4 (NEUROD4), mRNA.	106	Helix-loop-helix motif.				amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.D105D(2)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						CCTGAATGACGCCCTGGATAA	0.483000												
PHF1	5252	broad.mit.edu	37	6	33380151	33380151	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:33380151G>A	uc003oeh.3	+	1	347	c.111G>A	c.(109-111)gtG>gtA	p.V37V	PHF1_uc011drh.2_Non-coding_Transcript|PHF1_uc003oei.3_Silent_p.V37V|PHF1_uc010jux.3_5'UTR	NM_024165	NP_077084	O43189	PHF1_HUMAN	Homo sapiens PHD finger protein 1 (PHF1), transcript variant 2, mRNA.	37					chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				GTCAAGATGTGCTGGCCAGAT	0.567000												
PPP2R2C	5522	broad.mit.edu	37	4	6374363	6374363	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:6374363C>T	uc003gja.3	-	4	536	c.512G>A	c.(511-513)gGc>gAc	p.G171D	PPP2R2C_uc003gjb.3_Missense_Mutation_p.G154D|PPP2R2C_uc003gjc.3_Missense_Mutation_p.G171D|PPP2R2C_uc011bwd.2_Missense_Mutation_p.G164D|PPP2R2C_uc011bwe.2_Missense_Mutation_p.G164D|PPP2R2C_uc003gjd.1_Missense_Mutation_p.G259D	NM_181876	NP_870991	Q9Y2T4	2ABG_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B, gamma (PPP2R2C), transcript variant 2, mRNA.	171					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						GTAGGTGTGGCCATTGGCAAA	0.587000												
SOX30	11063	broad.mit.edu	37	5	157053375	157053375	+	Silent	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:157053375T>C	uc003lxb.1	-	4	2577	c.2235A>G	c.(2233-2235)gaA>gaG	p.E745E	SOX30_uc003lxc.1_3'UTR|SOX30_uc011dds.1_Silent_p.E440E	NM_178424	NP_848511	O94993	SOX30_HUMAN	Homo sapiens SRY (sex determining region Y)-box 30 (SOX30), transcript variant 1, mRNA.	745					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTTTTTCTTCTTCCTCCTCAT	0.383000												
ANP32C	23520	broad.mit.edu	37	4	165118464	165118464	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:165118464G>T	uc011cjk.2	-	0	400	c.400C>A	c.(400-402)Ctt>Att	p.L134I	MARCH1_uc003iqs.2_Intron	NM_012403	NP_036535	O43423	AN32C_HUMAN	Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member C (ANP32C), mRNA.	134										NS(2)|breast(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(3)|skin(4)	35	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)		KIRC - Kidney renal clear cell carcinoma(143;0.242)		TGCAGGAGAAGCTTGAACACG	0.488000												
RTEL1	51750	broad.mit.edu	37	20	62319289	62319289	+	Splice_Site	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:62319289G>A	uc021wge.1	+	17	1652	c.1482_splice	c.e17-1	p.I494_splice	RTEL1_uc011abc.2_Splice_Site|RTEL1_uc002yfu.2_Splice_Site_p.I494_splice|RTEL1_uc011abd.2_Splice_Site_p.I518_splice|RTEL1_uc002yfw.3_Splice_Site|RTEL1_uc011abe.1_Splice_Site_p.I271_splice|RTEL1_uc002yfx.1_5'Flank	NM_016434	NP_057518	Q9NZ71	RTEL1_HUMAN	Homo sapiens regulator of telomere elongation helicase 1 (RTEL1), transcript variant 1, mRNA.	494					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			GCCACGCTCAGCCCTTTCCCA	0.662000												
ZNF618	114991	broad.mit.edu	37	9	116812207	116812207	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:116812207C>T	uc004bid.3	+	14	2724	c.2625C>T	c.(2623-2625)taC>taT	p.Y875Y	ZNF618_uc004bic.3_Silent_p.Y782Y|ZNF618_uc011lxi.2_Silent_p.Y842Y|ZNF618_uc011lxj.2_Silent_p.Y843Y|ZNF618_uc010mvb.3_Silent_p.Y465Y	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	Homo sapiens zinc finger protein 618 (ZNF618), mRNA.	875					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						ATGAAGTGTACGATTACCTGC	0.577000												
IGSF8	93185	broad.mit.edu	37	1	160062178	160062178	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:160062178G>A	uc001fva.3	-	4	1665	c.1620C>T	c.(1618-1620)ggC>ggT	p.G540G	IGSF8_uc001fuz.3_Silent_p.G540G|IGSF8_uc009wtf.3_Silent_p.G540G	NM_052868	NP_443100	Q969P0	IGSF8_HUMAN	Homo sapiens immunoglobulin superfamily, member 8 (IGSF8), transcript variant 1, mRNA.	540	Ig-like C2-type 4.				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding	p.G540S(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			AGTGGTACACGCCTTCATCCT	0.662000												
RORB	6096	broad.mit.edu	37	9	77286710	77286710	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:77286710G>A	uc004aji.3	+	8	1199	c.1150G>A	c.(1150-1152)Gcc>Acc	p.A384T	RORB_uc004ajh.3_Missense_Mutation_p.A373T	NM_006914	NP_008845	Q92753	RORB_HUMAN	Homo sapiens RAR-related orphan receptor B (RORB), mRNA.	384	Ligand-binding (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						ATCAGACCGAGCCTGGCTTAT	0.408000												
NSUN5	55695	broad.mit.edu	37	7	72722781	72722781	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:72722781G>A	uc003txw.3	-	0	84	c.7C>T	c.(7-9)Ctg>Ttg	p.L3L	FKBP6_uc003twz.2_Intron|NSUN5_uc011kev.2_Silent_p.L3L|NSUN5_uc003txv.3_Silent_p.L3L|NSUN5_uc003txx.3_Silent_p.L3L	NM_018044	NP_060514	Q96P11	NSUN5_HUMAN	Homo sapiens NOP2/Sun domain family, member 5 (NSUN5), transcript variant 2, mRNA.	3							methyltransferase activity			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				GCAGCATACAGCCCCATGTTC	0.662000												
ZNF598	90850	broad.mit.edu	37	16	2048277	2048277	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:2048277C>T	uc002cof.1	-	13	2686	c.2671G>A	c.(2671-2673)Gac>Aac	p.D891N	TCRBV20S1_uc021tak.1_Intron|ZNF598_uc002coe.1_Missense_Mutation_p.D255N	NM_178167	NP_835461	Q86UK7	ZN598_HUMAN	Homo sapiens zinc finger protein 598 (ZNF598), mRNA.	891						intracellular	zinc ion binding	p.D890H(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						GGGAAGTCGTCGTCCCGGGCA	0.687000												
RASSF4	83937	broad.mit.edu	37	10	45480314	45480314	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:45480314G>A	uc001jbp.3	+	4	2069	c.520G>A	c.(520-522)Gcc>Acc	p.A174T	RASSF4_uc001jbo.3_Missense_Mutation_p.A143T|RASSF4_uc009xmn.3_Missense_Mutation_p.A73T|RASSF4_uc001jbq.3_Missense_Mutation_p.A40T|RASSF4_uc001jbt.3_Missense_Mutation_p.A100T			Q9H2L5	RASF4_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 4 (RASSF4), mRNA.	143	Ras-associating.				cell cycle|signal transduction		protein binding			NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						CAAGAGCGACGCCAGTTGCAT	0.637000												
MNDA	4332	broad.mit.edu	37	1	158813117	158813117	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:158813117A>G	uc001fsz.1	+	2	514	c.314A>G	c.(313-315)aAc>aGc	p.N105S		NM_002432	NP_002423	P41218	MNDA_HUMAN	Homo sapiens myeloid cell nuclear differentiation antigen (MNDA), mRNA.	105					B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					AAAAAAATAAACCAGGAAGAA	0.428000												
LRRC37B	114659	broad.mit.edu	37	17	30362634	30362634	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:30362634C>T	uc002hgu.3	+	6	2110	c.2099C>T	c.(2098-2100)aCg>aTg	p.T700M	LRRC37B_uc010wbx.2_Missense_Mutation_p.T618M|LRRC37B_uc010csu.3_Missense_Mutation_p.T649M	NM_052888	NP_443120	Q96QE4	LR37B_HUMAN	Homo sapiens leucine rich repeat containing 37B (LRRC37B), mRNA.	700						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				AACATTCTCACGATGACTGTT	0.308000												
EXOC2	55770	broad.mit.edu	37	6	549284	549284	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:549284C>T	uc003mtd.3	-	21	2263	c.2129G>A	c.(2128-2130)cGc>cAc	p.R710H	EXOC2_uc003mte.3_Missense_Mutation_p.R710H|EXOC2_uc011dho.2_Missense_Mutation_p.R305H	NM_018303	NP_060773	Q96KP1	EXOC2_HUMAN	Homo sapiens exocyst complex component 2 (EXOC2), mRNA.	710					exocytosis|protein transport					breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		TATCAAAAGGCGCTGTTCCTA	0.358000												
C5orf42	65250	broad.mit.edu	37	5	37196023	37196023	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:37196023C>T	uc011cpa.1	-	20	3979	c.3748G>A	c.(3748-3750)Gca>Aca	p.A1250T	C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Missense_Mutation_p.A325T|C5orf42_uc011cpb.1_Missense_Mutation_p.A131T	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.	1250								p.A131T(1)|p.A1250T(1)		breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CTAAAAAATGCGATACCTCCT	0.383000												
SLC22A16	85413	broad.mit.edu	37	6	110746270	110746270	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:110746270C>T	uc003puf.3	-	7	1607	c.1540G>A	c.(1540-1542)Gcc>Acc	p.A514T	SLC22A16_uc003pue.3_Missense_Mutation_p.A495T	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN	Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 16 (SLC22A16), mRNA.	514					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		CTCAGGAGGGCCATAGTCCCA	0.423000												
KCNA7	3743	broad.mit.edu	37	19	49575644	49575644	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:49575644C>T	uc002pmg.3	-	0	555	c.199G>A	c.(199-201)Gcc>Acc	p.A67T		NM_031886	NP_114092	Q96RP8	KCNA7_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 7 (KCNA7), mRNA.	67						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)		TAGAGCACGGCGTCGAAGCTG	0.706000												
CHST4	10164	broad.mit.edu	37	16	71570901	71570901	+	Silent	SNP	C	C	T	rs146763647	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:71570901C>T	uc021tkt.1	+	0	321	c.321C>T	c.(319-321)agC>agT	p.S107S	CHST4_uc002fan.3_Silent_p.S107S|CHST4_uc002fao.3_Silent_p.S107S	NM_005769	NP_005760	Q8NCG5	CHST4_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4 (CHST4), transcript variant 1, mRNA.	107					N-acetylglucosamine metabolic process|cell-cell signaling|immune response|inflammatory response|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						GCGACATGAGCGTCTTTGATG	0.597000												
ZNF581	51545	broad.mit.edu	37	19	56156449	56156449	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:56156449G>A	uc002qln.3	+	1	785	c.512G>A	c.(511-513)cGc>cAc	p.R171H	ZNF581_uc002qlq.3_Missense_Mutation_p.R171H|ZNF581_uc021vcb.1_Missense_Mutation_p.R171H|CCDC106_uc002qlr.3_5'Flank|CCDC106_uc021vcc.1_5'Flank|CCDC106_uc021vcd.1_5'Flank	NM_016535	NP_057619	Q9P0T4	ZN581_HUMAN	Homo sapiens zinc finger protein 581 (ZNF581), mRNA.	171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)	3		Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		TCTGGGGAACGCCCGTTTCAG	0.692000												
PCF11	51585	broad.mit.edu	37	11	82868586	82868586	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:82868586G>A	uc001ozx.4	+	0	450	c.105G>A	c.(103-105)ccG>ccA	p.P35P	PCF11_uc010rsu.1_Silent_p.P35P	NM_015885	NP_056969	O94913	PCF11_HUMAN	Homo sapiens PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae) (PCF11), mRNA.	35	CID.				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						ATAGCAAGCCGCACATCAATA	0.592000												
ACAT1	38	broad.mit.edu	37	11	108013239	108013239	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:108013239C>T	uc001pjy.3	+	8	978	c.902C>T	c.(901-903)gCg>gTg	p.A301V	ACAT1_uc001pjx.3_Missense_Mutation_p.A175V	NM_000019	NP_000010	P24752	THIL_HUMAN	Homo sapiens acetyl-CoA acetyltransferase 1 (ACAT1), nuclear gene encoding mitochondrial protein, mRNA.	301			A -> P (in 3KTD; 5% normal activity).		acetoacetic acid biosynthetic process|branched chain family amino acid catabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	acetyl-CoA C-acetyltransferase activity|metal ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|prostate(2)	10		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192)	Sulfasalazine(DB00795)	GCAGATGCAGCGAAGAGGCTC	0.517000												
WDR63	126820	broad.mit.edu	37	1	85559307	85559307	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:85559307G>A	uc001dkt.3	+	8	1215	c.1024G>A	c.(1024-1026)Gtc>Atc	p.V342I	WDR63_uc009wcl.3_Missense_Mutation_p.V303I	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN	Homo sapiens WD repeat domain 63 (WDR63), mRNA.	342										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		GATTACCTGTGTCTCATGGCA	0.423000												
NCBP1	4686	broad.mit.edu	37	9	100420938	100420938	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:100420938C>T	uc004axq.3	+	14	1849	c.1390C>T	c.(1390-1392)Cgt>Tgt	p.R464C		NM_002486	NP_002477	Q09161	NCBP1_HUMAN	Homo sapiens nuclear cap binding protein subunit 1, 80kDa (NCBP1), mRNA.	464					gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	RNA cap binding|protein binding			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				TTACCATCAGCGTATATTAGA	0.393000												
PLXNB1	5364	broad.mit.edu	37	3	48455097	48455097	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:48455097A>G	uc003csw.2	-	22	4787	c.4517T>C	c.(4516-4518)aTc>aCc	p.I1506T	PLXNB1_uc003cst.2_5'UTR|PLXNB1_uc003csu.2_Missense_Mutation_p.I1323T|PLXNB1_uc003csx.2_Missense_Mutation_p.I1506T|PLXNB1_uc010hjx.1_Non-coding_Transcript	NM_002673	NP_002664	O43157	PLXB1_HUMAN	Homo sapiens plexin B1 (PLXNB1), transcript variant 1, mRNA.	1506					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GAGGACAATGATGATGACACC	0.637000												
LPCAT2	54947	broad.mit.edu	37	16	55613142	55613142	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:55613142A>G	uc002eie.4	+	12	1617	c.1436A>G	c.(1435-1437)gAc>gGc	p.D479G	LPCAT2_uc002eic.3_Missense_Mutation_p.D209G	NM_017839	NP_060309	Q7L5N7	PCAT2_HUMAN	Homo sapiens lysophosphatidylcholine acyltransferase 2 (LPCAT2), mRNA.	479					cellular membrane organization|platelet activating factor biosynthetic process	Golgi membrane|Golgi stack|endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						GCCCAAGGGGACTCAATTTCC	0.473000												
SCAMP5	192683	broad.mit.edu	37	15	75311250	75311250	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:75311250G>A	uc002azn.2	+	6	845	c.658G>A	c.(658-660)Gcc>Acc	p.A220T	SCAMP5_uc002azl.2_Missense_Mutation_p.A212T|SCAMP5_uc002azm.2_Missense_Mutation_p.A212T|SCAMP5_uc002azk.2_Missense_Mutation_p.A212T|SCAMP5_uc010uly.2_Missense_Mutation_p.A141T	NM_138967	NP_620417	Q8TAC9	SCAM5_HUMAN	Homo sapiens secretory carrier membrane protein 5 (SCAMP5), transcript variant 3, mRNA.	212					exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding			large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						CATGGGGGCAGCCCAGGGTGC	0.587000												
SESTD1	91404	broad.mit.edu	37	2	180047900	180047900	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:180047900C>T	uc002uni.4	-	2	221	c.71G>A	c.(70-72)cGg>cAg	p.R24Q		NM_178123	NP_835224	Q86VW0	SESD1_HUMAN	Homo sapiens SEC14 and spectrin domains 1 (SESTD1), mRNA.	24	CRAL-TRIO.				regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding	p.R24W(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			GAGGCCACTCCGTCTGTCTTT	0.348000												
EBF2	64641	broad.mit.edu	37	8	25708132	25708132	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:25708132G>A	uc003xes.2	-	14	1939	c.1674C>T	c.(1672-1674)agC>agT	p.S558S	DOCK5_uc003xek.3_Intron|EBF2_uc010lug.2_Non-coding_Transcript	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	Homo sapiens early B-cell factor 2 (EBF2), mRNA.	558					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TTCCATTGCCGCTGGAGCAGG	0.488000												
CYP2C19	1557	broad.mit.edu	37	10	96495057	96495057	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:96495057G>T	uc001kjv.4	+	8	1655	c.1329G>T	c.(1327-1329)atG>atT	p.M443I	CYP2C19_uc001kjw.4_Missense_Mutation_p.M384I|CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_Intron	NM_000772	NP_000763	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA.	443					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity	p.R442H(2)|p.M443I(2)|p.R442L(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	TGGCCCGCATGGAGCTGTTTT	0.443000												
RPF1	80135	broad.mit.edu	37	1	84961086	84961086	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:84961086G>A	uc001djv.4	+	5	692	c.647G>A	c.(646-648)gGc>gAc	p.G216D		NM_025065	NP_079341	Q9H9Y2	RPF1_HUMAN	Homo sapiens ribosome production factor 1 homolog (S. cerevisiae) (RPF1), mRNA.	216	Brix.				rRNA processing|translation	nucleolus	ATP binding|aminoacyl-tRNA ligase activity|rRNA binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(2)|prostate(1)	14						TTGCCAAATGGCCCAACTGCT	0.313000												
DHX36	170506	broad.mit.edu	37	3	154022736	154022736	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:154022736C>T	uc003ezy.4	-	7	1075	c.994G>A	c.(994-996)Gta>Ata	p.V332I	DHX36_uc010hvq.3_Missense_Mutation_p.V332I|DHX36_uc003ezz.4_Missense_Mutation_p.V332I	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 36 (DHX36), transcript variant 1, mRNA.	332	Helicase ATP-binding.					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TCATCAAGTACGATATGACTA	0.294000												
GLI3	2737	broad.mit.edu	37	7	42085021	42085021	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:42085021G>A	uc011kbh.2	-	5	879	c.788C>T	c.(787-789)aCg>aTg	p.T263M	GLI3_uc011kbg.2_Missense_Mutation_p.T204M	NM_000168	NP_000159	P10071	GLI3_HUMAN	Homo sapiens GLI family zinc finger 3 (GLI3), mRNA.	263					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G262D(1)		NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GATGGCCCCCGTGCCGGCGGT	0.527000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly			
PDZRN3	23024	broad.mit.edu	37	3	73453360	73453360	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:73453360C>T	uc003dpl.1	-	3	1201	c.1105G>A	c.(1105-1107)Gcc>Acc	p.A369T	PDZRN3_uc011bgh.1_Missense_Mutation_p.A26T|PDZRN3_uc010hoe.1_Missense_Mutation_p.A67T|PDZRN3_uc011bgf.1_Missense_Mutation_p.A86T|PDZRN3_uc011bgg.1_Missense_Mutation_p.A89T	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	Homo sapiens PDZ domain containing ring finger 3 (PDZRN3), mRNA.	369							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TTAGTGAGGGCCATGATATGT	0.498000												
PIK3C2G	5288	broad.mit.edu	37	12	18491429	18491429	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:18491429C>T	uc001rdt.3	+	8	1458	c.1342C>T	c.(1342-1344)Caa>Taa	p.Q448*	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Nonsense_Mutation_p.Q448*|PIK3C2G_uc010sic.2_Nonsense_Mutation_p.Q226*	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	448					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				GGAAACCAAACAAATTACAGA	0.308000												
POFUT2	23275	broad.mit.edu	37	21	46687543	46687543	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr21:46687543G>A	uc002zhc.3	-	7	1123	c.1098C>T	c.(1096-1098)ggC>ggT	p.G366G	POFUT2_uc002zha.3_Non-coding_Transcript|POFUT2_uc002zhb.3_Non-coding_Transcript|POFUT2_uc002zhd.3_Silent_p.G366G	NM_133635	NP_598368	Q9Y2G5	OFUT2_HUMAN	Homo sapiens protein O-fucosyltransferase 2 (POFUT2), transcript variant 3, mRNA.	366					fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20				Colorectal(79;0.243)		TAATCGCAACGCCTCCGTCCT	0.552000												
WDR81	124997	broad.mit.edu	37	17	1636038	1636038	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:1636038G>A	uc002ftj.2	+	5	4531	c.4402G>A	c.(4402-4404)Gtg>Atg	p.V1468M	WDR81_uc002fth.2_Missense_Mutation_p.V417M|WDR81_uc010vqp.1_Missense_Mutation_p.V265M|WDR81_uc002fti.2_Missense_Mutation_p.V241M|WDR81_uc010vqq.1_Missense_Mutation_p.V99M	NM_001163809	NP_001157281	B3KXU1	B3KXU1_HUMAN	Homo sapiens WD repeat domain 81 (WDR81), transcript variant 1, mRNA.	241										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GCAGCGGCCCGTGGACCCCGC	0.632000												
SLC6A2	6530	broad.mit.edu	37	16	55730216	55730216	+	Silent	SNP	C	C	T	rs149035289		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:55730216C>T	uc021tio.1	+	7	1278	c.1227C>T	c.(1225-1227)ttC>ttT	p.F409F	SLC6A2_uc002eif.3_Silent_p.F409F|SLC6A2_uc002eig.3_Silent_p.F409F|SLC6A2_uc002eii.3_Silent_p.F304F|SLC6A2_uc002eij.3_Silent_p.F123F	NM_001172504	NP_001165975	P23975	SC6A2_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2 (SLC6A2), transcript variant 1, mRNA.	409					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	TTGTGTTTTTCGTCATGCTCC	0.542000												
FOXJ3	22887	broad.mit.edu	37	1	42664858	42664858	+	Missense_Mutation	SNP	C	C	T	rs146466322		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:42664858C>T	uc001che.3	-	8	986	c.674G>A	c.(673-675)cGc>cAc	p.R225H	FOXJ3_uc001chf.3_Missense_Mutation_p.R225H|FOXJ3_uc001chh.2_Missense_Mutation_p.R191H|FOXJ3_uc001chg.3_Missense_Mutation_p.R225H	NM_001198851	NP_001185780	Q9UPW0	FOXJ3_HUMAN	Homo sapiens forkhead box J3 (FOXJ3), transcript variant 3, mRNA.	225					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AAGGCTACTGCGTGGGCTATC	0.373000												
MYT1	4661	broad.mit.edu	37	20	62850293	62850293	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:62850293G>A	uc002yii.3	+	11	2240	c.1876G>A	c.(1876-1878)Gca>Aca	p.A626T	MYT1_uc002yih.3_Missense_Mutation_p.A328T|MYT1_uc002yij.3_Missense_Mutation_p.A285T	NM_004535	NP_004526	Q01538	MYT1_HUMAN	Homo sapiens myelin transcription factor 1 (MYT1), mRNA.	626					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CGCCGAGGCTGCACACATGGC	0.602000												
BAZ1B	9031	broad.mit.edu	37	7	72884801	72884801	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:72884801C>T	uc003tyc.3	-	7	2958	c.2606G>A	c.(2605-2607)cGc>cAc	p.R869H		NM_032408	NP_115784	Q9UIG0	BAZ1B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 1B (BAZ1B), mRNA.	869					ATP-dependent chromatin remodeling|DNA replication-dependent nucleosome disassembly|chromatin-mediated maintenance of transcription|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				TTCAGCTTGGCGTTCCAGTTT	0.398000												
MYO1G	64005	broad.mit.edu	37	7	45010231	45010231	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:45010231C>T	uc003tmh.2	-	8	1321	c.1177G>A	c.(1177-1179)Gtg>Atg	p.V393M	MYO1G_uc003tmg.2_Missense_Mutation_p.V155M|MYO1G_uc010kym.2_Missense_Mutation_p.V278M|MYO1G_uc003tmi.1_Missense_Mutation_p.V305M|MYO1G_uc022acj.1_5'Flank|MYO1G_uc003tmj.2_Missense_Mutation_p.V155M	NM_033054	NP_149043	B0I1T2	MYO1G_HUMAN	Homo sapiens myosin IG (MYO1G), mRNA.	393	Myosin head-like.					myosin complex|plasma membrane	ATP binding|actin binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						ATGTCCAGCACGCCAATGACT	0.587000												
RETSAT	54884	broad.mit.edu	37	2	85578103	85578103	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:85578103G>A	uc002spd.3	-	2	588	c.397C>T	c.(397-399)Cgt>Tgt	p.R133C	RETSAT_uc010fge.3_Non-coding_Transcript|RETSAT_uc010ysm.2_Missense_Mutation_p.R72C	NM_017750	NP_060220	Q6NUM9	RETST_HUMAN	Homo sapiens retinol saturase (all-trans-retinol 13,14-reductase) (RETSAT), mRNA.	133					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	AAGATAAAACGGCCAATGCTG	0.517000												
ITGA3	3675	broad.mit.edu	37	17	48145498	48145498	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:48145498C>T	uc010dbm.3	+	3	957	c.493C>T	c.(493-495)Cga>Tga	p.R165*	ITGA3_uc010dbl.3_Nonsense_Mutation_p.R165*	NM_005501	NP_005492	P26006	ITA3_HUMAN	Homo sapiens integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) (ITGA3), transcript variant b, mRNA.	165					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						GTGCTACGTGCGAGGCAATGA	0.597000												
XPR1	9213	broad.mit.edu	37	1	180849411	180849411	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:180849411C>T	uc001goi.3	+	13	2200	c.2008C>T	c.(2008-2010)Cgc>Tgc	p.R670C	XPR1_uc009wxn.3_Missense_Mutation_p.R605C	NM_004736	NP_004727	Q9UBH6	XPR1_HUMAN	Homo sapiens xenotropic and polytropic retrovirus receptor 1 (XPR1), transcript variant 1, mRNA.	670						integral to plasma membrane	G-protein coupled receptor activity	p.R670H(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						CATATCCCTGCGCCGGCCTCG	0.473000												
MTOR	2475	broad.mit.edu	37	1	11308151	11308151	+	Splice_Site	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:11308151G>A	uc001asd.3	-	7	962	c.841_splice	c.e7-1	p.R281_splice		NM_004958	NP_004949	P42345	MTOR_HUMAN	Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA.	281					T cell costimulation|TOR signaling cascade|cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient	Golgi membrane|PML body|TORC1 complex|TORC2 complex|endoplasmic reticulum membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						TCTCTCAGACGCTATATATAT	0.413000												
RIPK1	8737	broad.mit.edu	37	6	3083441	3083441	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:3083441G>A	uc010jni.3	+	4	814	c.582G>A	c.(580-582)gcG>gcA	p.A194A	RIPK1_uc003muv.4_Silent_p.A31A|RIPK1_uc003mux.3_Silent_p.A194A|RIPK1_uc011dhs.2_Silent_p.A148A	NM_003804	NP_003795	Q13546	RIPK1_HUMAN	Homo sapiens receptor (TNFRSF)-interacting serine-threonine kinase 1 (RIPK1), mRNA.	194	Protein kinase.				MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of JUN kinase activity|activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of anti-apoptosis|positive regulation of interleukin-8 production|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				ACTACATGGCGCCCGAGCACC	0.502000												
NCOA3	8202	broad.mit.edu	37	20	46264165	46264165	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:46264165G>A	uc002xtk.3	+	10	1473	c.1212G>A	c.(1210-1212)tcG>tcA	p.S404S	NCOA3_uc002xtl.3_Silent_p.S404S|NCOA3_uc002xtn.3_Silent_p.S404S|NCOA3_uc010ght.2_Silent_p.S414S|NCOA3_uc002xtm.3_Silent_p.S404S|NCOA3_uc010zyc.2_Silent_p.S199S	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	Homo sapiens nuclear receptor coactivator 3 (NCOA3), transcript variant 1, mRNA.	404					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TGAGTATGTCGCCAAACCAAG	0.532000												
DNAH5	1767	broad.mit.edu	37	5	13891148	13891148	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:13891148C>T	uc003jfd.2	-	16	2556	c.2514G>A	c.(2512-2514)acG>acA	p.T838T		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	838	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GACAAAGAGGCGTGCTGCTCA	0.408000									Kartagener syndrome			
NEO1	4756	broad.mit.edu	37	15	73528822	73528822	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:73528822T>C	uc002avm.4	+	7	1618	c.1426T>C	c.(1426-1428)Ttc>Ctc	p.F476L	NEO1_uc010ukx.2_Missense_Mutation_p.F476L|NEO1_uc010uky.2_Missense_Mutation_p.F476L|NEO1_uc002avn.4_Missense_Mutation_p.F496L|NEO1_uc010ukz.2_5'UTR	NM_002499	NP_002490	Q92859	NEO1_HUMAN	Homo sapiens neogenin 1 (NEO1), transcript variant 1, mRNA.	476	Fibronectin type-III 1.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						CTACTCTGTGTTCTACACCAA	0.557000												
TMC2	117532	broad.mit.edu	37	20	2621828	2621828	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:2621828C>T	uc002wgf.1	+	19	2567	c.2552C>T	c.(2551-2553)gCg>gTg	p.A851V	TMC2_uc002wgg.1_Missense_Mutation_p.A835V	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	Homo sapiens transmembrane channel-like 2 (TMC2), mRNA.	851						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GACAAGAAGGCGCAGGGCCCT	0.567000												
NBAS	51594	broad.mit.edu	37	2	15696925	15696925	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:15696925C>T	uc002rcc.1	-	2	217	c.191G>A	c.(190-192)cGc>cAc	p.R64H	NBAS_uc002rcd.1_Non-coding_Transcript	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA.	64										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GATGTATTGGCGTAAAAATAA	0.279000												
CETN2	1069	broad.mit.edu	37	X	151998218	151998218	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:151998218C>T	uc004fgq.3	-	1	137	c.90G>A	c.(88-90)aaG>aaA	p.K30K	NSDHL_uc004fgt.1_5'Flank|NSDHL_uc004fgs.1_5'Flank	NM_004344	NP_004335	P41208	CETN2_HUMAN	Homo sapiens centrin, EF-hand protein, 2 (CETN2), mRNA.	30	EF-hand 1.				G2/M transition of mitotic cell cycle|cell division|centriole replication|mitosis|nucleotide-excision repair|regulation of cytokinesis	XPC complex|centriole|cytosol	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			breast(1)|lung(4)|prostate(1)|skin(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					GGATCTCCTGCTTTTGCTCTT	0.453000								Direct reversal of damage;Nucleotide excision repair (NER)				
BRAF	673	broad.mit.edu	37	7	140434413	140434413	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:140434413G>A	uc003vwc.4	-	17	2346	c.2285C>T	c.(2284-2286)gCg>gTg	p.A762V		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	762					activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.A762E(2)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	GACAGGAAACGCACCATATCC	0.403000		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome			
ADH1C	126	broad.mit.edu	37	4	100261758	100261758	+	RNA	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:100261758C>T	uc021xqi.1	-	6		c.1023G>A				NM_000669		P00326	ADH1G_HUMAN	Homo sapiens alcohol dehydrogenase 1C (class I), gamma polypeptide (ADH1C), mRNA.						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	TTTCCACGTGCGTCCAGTCAG	0.443000												
CCL28	56477	broad.mit.edu	37	5	43388544	43388544	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:43388544C>T	uc003jnu.3	-	1	169	c.99G>A	c.(97-99)gaG>gaA	p.E33E	CCL28_uc003jns.3_Non-coding_Transcript|CCL28_uc003jnt.3_Non-coding_Transcript|CCL28_uc010ivn.3_5'UTR|CCL28_uc021xyh.1_Silent_p.E33E	NM_148672	NP_683513	Q9NRJ3	CCL28_HUMAN	Homo sapiens chemokine (C-C motif) ligand 28 (CCL28), mRNA.	33					chemotaxis|immune response	extracellular space	chemokine activity			kidney(3)|lung(3)|ovary(1)	7						GATGTGAAACCTCCGTGCAAC	0.433000												
ZNF395	55893	broad.mit.edu	37	8	28214286	28214286	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:28214286C>T	uc003xgq.3	-	3	572	c.484G>A	c.(484-486)Gca>Aca	p.A162T	ZNF395_uc003xgt.3_Missense_Mutation_p.A162T|ZNF395_uc003xgr.3_Missense_Mutation_p.A162T|ZNF395_uc003xgs.3_Missense_Mutation_p.A162T	NM_018660	NP_061130	Q9H8N7	ZN395_HUMAN	Homo sapiens zinc finger protein 395 (ZNF395), mRNA.	162					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.D161D(1)		cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		ATTTCCACTGCGTCCGACTTC	0.572000												
SGK3	23678	broad.mit.edu	37	8	67734620	67734620	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:67734620G>T	uc003xwp.3	+	7	974	c.343G>T	c.(343-345)Gca>Tca	p.A115S	SGK3_uc003xwr.3_Missense_Mutation_p.A115S|SGK3_uc003xwt.3_Missense_Mutation_p.A115S|SGK3_uc003xwu.3_Missense_Mutation_p.A115S	NM_001204173	NP_001191102	Q96BR1	SGK3_HUMAN	Homo sapiens C8orf44-SGK3 readthrough (C8orf44-SGK3), mRNA.	115	PX.				cell communication|response to stress	cytoplasmic membrane-bounded vesicle|early endosome	ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			AGATGTCAGAGCATTCCTTCA	0.328000												
CCPG1	9236	broad.mit.edu	37	15	55724799	55724799	+	Splice_Site	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:55724799G>A	uc002acy.3	-	8	1303	c.-114_splice	c.e8-1		CCPG1_uc010ugh.1_Intron|CCPG1_uc010ugi.2_Splice_Site|DYX1C1_uc002adb.3_Intron|DYX1C1_uc002adc.3_Splice_Site_p.A350_splice|DYX1C1_uc002add.3_Intron	NM_001204450	NP_001191379	Q9ULG6	CCPG1_HUMAN	Homo sapiens cell cycle progression 1 (CCPG1), transcript variant 3, mRNA.						cell cycle	integral to membrane				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		TAATTCCAGTGCCTTACAAAA	0.373000												
RNF111	54778	broad.mit.edu	37	15	59323599	59323599	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:59323599C>T	uc002afv.3	+	1	857	c.578C>T	c.(577-579)tCg>tTg	p.S193L	RNF111_uc002afs.3_Missense_Mutation_p.S193L|RNF111_uc002aft.3_Missense_Mutation_p.S193L|RNF111_uc002afu.3_Missense_Mutation_p.S193L|RNF111_uc002afw.3_Missense_Mutation_p.S193L	NM_017610	NP_060080	Q6ZNA4	RN111_HUMAN	Homo sapiens ring finger protein 111 (RNF111), mRNA.	193					multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		GAATCTGTATCGGGATTGTTA	0.423000												
SIGLEC10	89790	broad.mit.edu	37	19	51920664	51920664	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:51920664C>T	uc002pwo.3	-	1	315	c.93G>A	c.(91-93)gtG>gtA	p.V31V	SIGLEC10_uc002pwp.3_Silent_p.V31V|SIGLEC10_uc021uyl.1_Silent_p.V31V|SIGLEC10_uc002pwq.3_Silent_p.V31V|SIGLEC10_uc010ycz.2_Silent_p.V31V|SIGLEC10_uc002pws.2_Silent_p.V31V|SIGLEC10_uc002pwr.3_Silent_p.V31V|SIGLEC10_uc010ycy.2_Silent_p.V31V|SIGLEC10_uc010eow.3_Intron|LOC100129083_uc021uym.1_Non-coding_Transcript	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 10 (SIGLEC10), transcript variant 1, mRNA.	31	Ig-like V-type.				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)		GGCCCTCCGGCACCATCACTG	0.592000												
C14orf43	91748	broad.mit.edu	37	14	74186094	74186094	+	Silent	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:74186094T>C	uc010tud.1	-	10	3295	c.3048A>G	c.(3046-3048)ctA>ctG	p.L1016L	C14orf43_uc001xos.3_Silent_p.L281L|C14orf43_uc001xot.3_Silent_p.L1016L|C14orf43_uc001xou.3_Silent_p.L1016L|C14orf43_uc010arw.2_Non-coding_Transcript	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	Homo sapiens chromosome 14 open reading frame 43 (C14orf43), transcript variant 1, mRNA.	1016					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(4)	37				BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)		CTGAAAAAGGTAGTGCCCTTC	0.542000												
RAB11A	8766	broad.mit.edu	37	15	66180171	66180171	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:66180171A>G	uc002apk.3	+	4	771	c.644A>G	c.(643-645)aAc>aGc	p.N215S	RAB11A_uc010ujk.2_3'UTR	NM_004663	NP_004654	P62491	RB11A_HUMAN	Homo sapiens RAB11A, member RAS oncogene family (RAB11A), transcript variant 1, mRNA.	215					cell cycle|cytokinesis|neuron projection development|plasma membrane to endosome transport|protein localization in plasma membrane|small GTPase mediated signal transduction|vesicle-mediated transport	cleavage furrow|plasma membrane|recycling endosome membrane|trans-Golgi network	GTP binding|GTPase activity|syntaxin binding			kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5						TGCTGTCAGAACATCTAAGGC	0.413000												
IPO7	10527	broad.mit.edu	37	11	9457899	9457899	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:9457899C>T	uc001mho.3	+	19	2396	c.2254C>T	c.(2254-2256)Cgt>Tgt	p.R752C		NM_006391	NP_006382	O95373	IPO7_HUMAN	Homo sapiens importin 7 (IPO7), mRNA.	752					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	Ran GTPase binding|protein transporter activity|small GTPase regulator activity	p.G751G(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		GTGCAAAGGGCGTGGCATTGA	0.403000												
MBOAT1	154141	broad.mit.edu	37	6	20118754	20118754	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:20118754C>T	uc003ncx.1	-	8	1130	c.925G>A	c.(925-927)Gca>Aca	p.A309T	MBOAT1_uc011dji.1_Missense_Mutation_p.A160T	NM_001080480	NP_001073949	Q6ZNC8	MBOA1_HUMAN	Homo sapiens membrane bound O-acyltransferase domain containing 1 (MBOAT1), mRNA.	309					phospholipid biosynthetic process	integral to membrane	acyltransferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			AAGCCAGCTGCGTTATTCACT	0.393000												
EPB42	2038	broad.mit.edu	37	15	43498659	43498659	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:43498659G>A	uc001zrb.4	-	9	1877	c.1577C>T	c.(1576-1578)aCg>aTg	p.T526M	EPB42_uc001zqz.4_Missense_Mutation_p.T163M|EPB42_uc001zra.4_Missense_Mutation_p.T496M|EPB42_uc010udm.2_Missense_Mutation_p.T418M	NM_000119	NP_000110	P16452	EPB42_HUMAN	Homo sapiens erythrocyte membrane protein band 4.2 (EPB42), transcript variant 1, mRNA.	496					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		ATTAACCAGCGTCACTGAGAT	0.582000												
BMP5	653	broad.mit.edu	37	6	55623844	55623844	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:55623844C>T	uc003pcq.3	-	5	1886	c.1174G>A	c.(1174-1176)Gcc>Acc	p.A392T	BMP5_uc011dxf.2_Intron	NM_021073	NP_066551	P22003	BMP5_HUMAN	Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA.	392					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	p.N391N(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			TTCATATGGGCGTTAAGTGGA	0.393000												
ZNF780B	163131	broad.mit.edu	37	19	40541185	40541185	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:40541185C>T	uc002omu.3	-	4	1646	c.1581G>A	c.(1579-1581)aaG>aaA	p.K527K	ZNF780B_uc002omv.3_Silent_p.K379K	NM_001005851	NP_001005851	Q9Y6R6	Z780B_HUMAN	Homo sapiens zinc finger protein 780B (ZNF780B), mRNA.	527					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)					ATTCATAGGGCTTCTCACCAG	0.423000												
TMEM177	80775	broad.mit.edu	37	2	120438707	120438707	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:120438707C>T	uc021vnk.1	+	0	278	c.278C>T	c.(277-279)gCa>gTa	p.A93V	TMEM177_uc002tme.2_Intron|TMEM177_uc010flg.1_Missense_Mutation_p.A93V|TMEM177_uc002tmc.1_Missense_Mutation_p.A93V|TMEM177_uc002tmd.2_Missense_Mutation_p.A93V|TMEM177_uc010flh.3_Intron	NM_030577	NP_085054	Q53S58	TM177_HUMAN	Homo sapiens transmembrane protein 177 (TMEM177), transcript variant 2, mRNA.	93						integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					CCTGTGAGTGCAGGCTTCCCA	0.557000												
LRRC4B	94030	broad.mit.edu	37	19	51021314	51021314	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:51021314C>T	uc002pss.3	-	2	1793	c.1656G>A	c.(1654-1656)gcG>gcA	p.A552A		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	Homo sapiens leucine rich repeat containing 4B (LRRC4B), mRNA.	552						cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GCACCGTGAACGCCTTCTCCG	0.672000												
ZNF438	220929	broad.mit.edu	37	10	31137485	31137485	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:31137485G>A	uc010qdz.2	-	6	2284	c.1849C>T	c.(1849-1851)Cga>Tga	p.R617*	ZNF438_uc001ivn.3_Nonsense_Mutation_p.R568*|ZNF438_uc010qdy.2_Nonsense_Mutation_p.R607*|ZNF438_uc001ivo.4_Nonsense_Mutation_p.R181*|ZNF438_uc009xlg.3_Nonsense_Mutation_p.R617*|ZNF438_uc001ivp.4_Nonsense_Mutation_p.R607*|ZNF438_uc010qea.2_Nonsense_Mutation_p.R617*|ZNF438_uc010qeb.2_Nonsense_Mutation_p.R617*|ZNF438_uc010qec.1_Nonsense_Mutation_p.R181*	NM_182755	NP_001137241	Q7Z4V0	ZN438_HUMAN	Homo sapiens zinc finger protein 438 (ZNF438), transcript variant 2, mRNA.	617					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				TCCATGCCTCGCACACTCATG	0.498000												
FNBP1L	54874	broad.mit.edu	37	1	94001888	94001888	+	Splice_Site	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:94001888G>A	uc010otk.2	+	10	1142	c.991_splice	c.e10-1	p.P331_splice	FNBP1L_uc001dpv.3_Intron|FNBP1L_uc001dpw.3_Intron	NM_001164473	NP_001157945	Q5T0N5	FBP1L_HUMAN	Homo sapiens formin binding protein 1-like (FNBP1L), transcript variant 3, mRNA.	331	Induction of membrane tubulation (By similarity).|Interaction with CDC42.				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	lipid binding			breast(2)|kidney(2)|large_intestine(4)|lung(2)|urinary_tract(1)	11		all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155)		all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111)		TTCCATATTAGCCACAGTCCC	0.368000												
PROKR1	10887	broad.mit.edu	37	2	68882118	68882118	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:68882118G>A	uc010yqj.2	+	1	752	c.592G>A	c.(592-594)Gcc>Acc	p.A198T	PROKR1_uc002ses.3_Non-coding_Transcript	NM_138964	NP_620414	Q8TCW9	PKR1_HUMAN	Homo sapiens prokineticin receptor 1 (PROKR1), mRNA.	198						integral to membrane|plasma membrane	neuropeptide Y receptor activity	p.A198V(1)		endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CATCCCTTCCGCCTACTTCAC	0.567000												
CSMD2	114784	broad.mit.edu	37	1	33985194	33985194	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:33985194T>C	uc001bxm.1	-	69	10997	c.10820A>G	c.(10819-10821)gAc>gGc	p.D3607G	CSMD2_uc001bxn.1_Missense_Mutation_p.D3463G	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	3463						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)				GATGTTGCGGTCGTACATTGG	0.562000												
PELI3	246330	broad.mit.edu	37	11	66235677	66235677	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:66235677C>T	uc001oic.4	+	1	242	c.78C>T	c.(76-78)tgC>tgT	p.C26C	PELI3_uc021qlx.1_Silent_p.C26C|PELI3_uc001oib.2_Silent_p.C26C|PELI3_uc001oid.4_Silent_p.C26C|PELI3_uc021qly.1_Intron	NM_145065	NP_001230065	Q8N2H9	PELI3_HUMAN	Homo sapiens pellino homolog 3 (Drosophila) (PELI3), transcript variant 1, mRNA.	26						cytosol	protein binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						AGGGCTCTTGCGTTCTCTCCT	0.602000												
DHX38	9785	broad.mit.edu	37	16	72130838	72130838	+	Silent	SNP	G	G	A	rs148616280		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:72130838G>A	uc002fcb.3	+	2	796	c.441G>A	c.(439-441)tcG>tcA	p.S147S	TXNL4B_uc010vmo.2_5'Flank|DHX38_uc010vmp.2_Intron|DHX38_uc010cgn.1_Non-coding_Transcript	NM_014003	NP_054722	Q92620	PRP16_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 38 (DHX38), mRNA.	147					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				TCTATGCCTCGTCCAAAGAAG	0.547000												
PPP1R12A	4659	broad.mit.edu	37	12	80211266	80211266	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:80211266C>T	uc001syz.3	-	8	1414	c.1147G>A	c.(1147-1149)Gcc>Acc	p.A383T	PPP1R12A_uc010suc.2_Missense_Mutation_p.A296T|PPP1R12A_uc001sza.3_Missense_Mutation_p.A383T|PPP1R12A_uc010sud.2_Missense_Mutation_p.A383T|PPP1R12A_uc001szb.3_Missense_Mutation_p.A383T|PPP1R12A_uc001szc.2_Missense_Mutation_p.A383T	NM_002480	NP_001137358	O14974	MYPT1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 12A (PPP1R12A), transcript variant 1, mRNA.	383						contractile fiber	protein binding|signal transducer activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						GAAGTGTTGGCATTAGTTACA	0.388000												
KLC2	64837	broad.mit.edu	37	11	66033585	66033585	+	Missense_Mutation	SNP	C	C	T	rs139049979	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:66033585C>T	uc010rov.1	+	13	1867	c.1624C>T	c.(1624-1626)Cgc>Tgc	p.R542C	KLC2_uc010row.1_Missense_Mutation_p.R542C|KLC2_uc001ohb.2_Missense_Mutation_p.R542C|KLC2_uc010rox.1_Missense_Mutation_p.R465C|KLC2_uc001ohc.2_Missense_Mutation_p.R542C|KLC2_uc001ohd.2_Missense_Mutation_p.R465C|KLC2_uc001ohe.1_Missense_Mutation_p.R403C|RAB1B_uc001ohf.3_5'Flank	NM_001134775	NP_073733	Q9H0B6	KLC2_HUMAN	Homo sapiens kinesin light chain 2 (KLC2), transcript variant 3, mRNA.	542					blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding	p.R541M(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						CTCCTTGAGGCGCAGCGGTTC	0.682000												
DGCR8	54487	broad.mit.edu	37	22	20073913	20073913	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:20073913G>A	uc002zri.3	+	1	856	c.427G>A	c.(427-429)Gac>Aac	p.D143N	DGCR8_uc010grz.3_Missense_Mutation_p.D143N|DGCR8_uc002zrj.3_5'Flank	NM_022720	NP_073557	Q8WYQ5	DGCR8_HUMAN	Homo sapiens DiGeorge syndrome critical region gene 8 (DGCR8), transcript variant 1, mRNA.	143	Necessary for interaction with NCL.|Necessary for nuclear localization and retention.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					AGCAGAGCGCGACGTGCGGGC	0.582000												
DUSP16	80824	broad.mit.edu	37	12	12630760	12630760	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:12630760C>T	uc001rao.2	-	6	1768	c.1005G>A	c.(1003-1005)acG>acA	p.T335T	DUSP16_uc001ran.2_Silent_p.T187T	NM_030640	NP_085143	Q9BY84	DUS16_HUMAN	Homo sapiens dual specificity phosphatase 16 (DUSP16), mRNA.	335					MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive|inactivation of MAPK activity	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		GACTGAGGGGCGTCTCGCTTT	0.622000												
RBM26	64062	broad.mit.edu	37	13	79943029	79943029	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:79943029C>T	uc001vkz.2	-	5	745	c.731G>A	c.(730-732)gGc>gAc	p.G244D	RBM26_uc001vky.2_Missense_Mutation_p.G244D|RBM26_uc001vla.2_Missense_Mutation_p.G244D|RBM26_uc001vkx.2_5'UTR|RBM26_uc001vlb.1_Non-coding_Transcript	NM_022118	NP_071401	Q5T8P6	RBM26_HUMAN	Homo sapiens RNA binding motif protein 26 (RBM26), mRNA.	244					mRNA processing		RNA binding|nucleotide binding|protein binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		AGGGTAGTGGCCAGATGAAAT	0.398000												
MLL2	8085	broad.mit.edu	37	19	36219029	36219029	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:36219029G>A	uc021usv.1	+	18	4528	c.4528G>A	c.(4528-4530)Gcc>Acc	p.A1510T	MLL2_uc021usu.1_Missense_Mutation_p.A324T	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	0	Cys-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						CTGGTTCGACGCCCACGACCC	0.627000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)		
SELPLG	6404	broad.mit.edu	37	12	109017688	109017688	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:109017688C>A	uc010sxe.2	-	1	621	c.444G>T	c.(442-444)caG>caT	p.Q148H	SELPLG_uc001tni.3_Missense_Mutation_p.Q132H|SELPLG_uc021rdm.1_Intron|SELPLG_uc001tnh.3_Intron	NM_001206609	NP_001193538	Q14242	SELPL_HUMAN	Homo sapiens selectin P ligand (SELPLG), transcript variant 1, mRNA.	132	12 X 10 AA tandem repeats.				blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						GTTGAGTGGTCTGTGCCTCCG	0.607000												
TMTC3	160418	broad.mit.edu	37	12	88547228	88547228	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:88547228A>G	uc001tau.3	+	2	570	c.350A>G	c.(349-351)aAc>aGc	p.N117S	TMTC3_uc009zsm.2_Non-coding_Transcript	NM_181783	NP_861448	Q6ZXV5	TMTC3_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 3 (TMTC3), mRNA.	117						integral to membrane	binding			NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						TTTCTGGACAACAAGAGTAGT	0.323000												
TFIP11	24144	broad.mit.edu	37	22	26890122	26890122	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:26890122G>A	uc003acr.2	-	12	2515	c.2141C>T	c.(2140-2142)gCg>gTg	p.A714V	TFIP11_uc003acq.2_Missense_Mutation_p.A73V|TFIP11_uc003acs.2_Missense_Mutation_p.A714V|TFIP11_uc003act.2_Missense_Mutation_p.A714V	NM_012143	NP_036275	Q9UBB9	TFP11_HUMAN	Homo sapiens tuftelin interacting protein 11 (TFIP11), transcript variant 2, mRNA.	714					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						GGAGGACACCGCCCGGTTCAT	0.453000												
MLLT4	4301	broad.mit.edu	37	6	168344088	168344088	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:168344088C>T	uc021zik.1	+	23	3347	c.3028C>T	c.(3028-3030)Cgt>Tgt	p.R1010C	MLLT4_uc003qwb.1_Missense_Mutation_p.R1035C|MLLT4_uc003qwc.2_Missense_Mutation_p.R1051C|MLLT4_uc021zij.1_Missense_Mutation_p.R1034C|MLLT4_uc021zim.1_Missense_Mutation_p.R597C|MLLT4_uc003qwg.1_Missense_Mutation_p.R360C	NM_001040000	NP_001035089	P55196	AFAD_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (MLLT4), transcript variant 2, mRNA.	1051	PDZ.				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	p.R1035C(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CTAGGATGGACGTCTAGCTGC	0.453000			T	MLL	AL							
RALGDS	5900	broad.mit.edu	37	9	135982604	135982604	+	Silent	SNP	C	C	T	rs139454388		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:135982604C>T	uc004cco.3	-	6	1301	c.1281G>A	c.(1279-1281)gcG>gcA	p.A427A	RALGDS_uc004ccp.3_Non-coding_Transcript|RALGDS_uc004ccq.3_Silent_p.A415A|RALGDS_uc004ccr.3_Silent_p.A426A|RALGDS_uc011mcv.2_Silent_p.A398A|RALGDS_uc004ccs.3_Silent_p.A372A|RALGDS_uc011mcw.2_Silent_p.A498A|RALGDS_uc004ccv.1_Silent_p.A196A|RALGDS_uc004ccu.1_Silent_p.A196A	NM_006266	NP_006257	Q12967	GNDS_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator (RALGDS), transcript variant 1, mRNA.	427	Ras-GEF.				Ras protein signal transduction|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		GGATGGTGGGCGCCAGGTGCT	0.617000			T	CIITA	"""PMBL, Hodgkin Lymphona, """							
PKNOX2	63876	broad.mit.edu	37	11	125267792	125267792	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:125267792T>C	uc001qbu.3	+	6	736	c.422T>C	c.(421-423)cTg>cCg	p.L141P	PKNOX2_uc010saz.2_Missense_Mutation_p.L112P|PKNOX2_uc010sba.2_Missense_Mutation_p.L112P|PKNOX2_uc010sbb.2_Missense_Mutation_p.L77P	NM_022062	NP_071345	Q96KN3	PKNX2_HUMAN	Homo sapiens PBX/knotted 1 homeobox 2 (PKNOX2), mRNA.	141						nucleus	sequence-specific DNA binding transcription factor activity	p.V140V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		ATCCAGGTCCTGAGAATCCAC	0.547000												
ATP6V1H	51606	broad.mit.edu	37	8	54628573	54628573	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:54628573C>T	uc003xrl.3	-	13	1555	c.1403G>A	c.(1402-1404)gGc>gAc	p.G468D	ATP6V1H_uc003xrk.3_Missense_Mutation_p.G428D|ATP6V1H_uc003xrm.3_Missense_Mutation_p.G468D|ATP6V1H_uc003xrn.3_Missense_Mutation_p.G450D|ATP6V1H_uc011ldv.2_Missense_Mutation_p.G388D|ATP6V1H_uc010lyd.3_Missense_Mutation_p.G404D	NM_213620	NP_998785	Q9UI12	VATH_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H (ATP6V1H), transcript variant 3, mRNA.	468					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism			endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	18		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)			GAGCTGCTTGCCAAGGTATTC	0.488000												
ZCWPW2	152098	broad.mit.edu	37	3	28476697	28476697	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:28476697C>T	uc003ceh.3	+	3	597	c.429C>T	c.(427-429)ggC>ggT	p.G143G	ZCWPW2_uc003cei.3_Silent_p.G143G|ZCWPW2_uc010hfo.3_5'UTR	NM_001040432	NP_001035522	Q504Y3	ZCPW2_HUMAN	Homo sapiens zinc finger, CW type with PWWP domain 2 (ZCWPW2), mRNA.	143	PWWP.						zinc ion binding	p.G143G(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						AATTCCTGGGCGATCCCCATT	0.378000												
TFPT	29844	broad.mit.edu	37	19	54618073	54618073	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:54618073C>T	uc010yej.1	-	1	437	c.31G>A	c.(31-33)Gca>Aca	p.A11T	TFPT_uc010erd.2_Missense_Mutation_p.A11T|PRPF31_uc002qdh.2_5'Flank|PRPF31_uc010yek.1_5'Flank|PRPF31_uc021vbi.1_5'Flank	NM_013342	NP_037474	P0C1Z6	TFPT_HUMAN	Homo sapiens TCF3 (E2A) fusion partner (in childhood Leukemia) (TFPT), mRNA.	11					DNA recombination|DNA repair|apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|cytoplasm	DNA binding|protein binding			large_intestine(2)|lung(2)	4	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)					CCCACGGCTGCCATGGTCCTG	0.652000			T	TCF3	pre-B ALL							
FABP5	2171	broad.mit.edu	37	8	82195629	82195629	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:82195629C>T	uc003yca.2	+	1	221	c.108C>T	c.(106-108)ggC>ggT	p.G36G		NM_001444	NP_001435	Q01469	FABP5_HUMAN	Homo sapiens fatty acid binding protein 5 (psoriasis-associated) (FABP5), mRNA.	36					epidermis development	cytoplasm	fatty acid binding|protein binding|transporter activity			large_intestine(1)|lung(3)	4	Lung NSC(7;3.57e-05)|all_lung(9;0.00011)		Epithelial(68;0.102)			GAAAAATGGGCGCAATGGCCA	0.373000												
TMEM171	134285	broad.mit.edu	37	5	72427511	72427511	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:72427511C>T	uc003kcm.2	+	3	1133	c.929C>T	c.(928-930)gCt>gTt	p.A310V	TMEM171_uc003kcn.3_Missense_Mutation_p.A309V	NM_173490	NP_775761	Q8WVE6	TM171_HUMAN	Homo sapiens transmembrane protein 171 (TMEM171), transcript variant 1, mRNA.	310						integral to membrane				endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)	15		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)		AAAGAAAATGCTGCAGCTACA	0.383000												
LAMA2	3908	broad.mit.edu	37	6	129775324	129775324	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:129775324C>T	uc021zfb.1	+	46	6703	c.6598C>T	c.(6598-6600)Cgt>Tgt	p.R2200C	LAMA2_uc003qbn.3_Missense_Mutation_p.R2198C|LAMA2_uc003qbo.3_Missense_Mutation_p.R2198C	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	2200	Laminin G-like 1.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TATAGAAATGCGTAAAGGCAA	0.398000												
SLC4A11	83959	broad.mit.edu	37	20	3214613	3214613	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:3214613C>T	uc010zqe.2	-	5	813	c.688G>A	c.(688-690)Gcc>Acc	p.A230T	SLC4A11_uc002wig.3_Missense_Mutation_p.A203T|SLC4A11_uc002wih.3_Non-coding_Transcript|SLC4A11_uc010zqf.2_Missense_Mutation_p.A187T	NM_001174090	NP_001167561	Q8NBS3	S4A11_HUMAN	Homo sapiens solute carrier family 4, sodium borate transporter, member 11 (SLC4A11), transcript variant 1, mRNA.	203					cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						GTCACTGTGGCGGTGACCCCT	0.647000												
GOLGB1	2804	broad.mit.edu	37	3	121414107	121414107	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:121414107C>T	uc010hrc.3	-	12	5389	c.5263G>A	c.(5263-5265)Gac>Aac	p.D1755N	GOLGB1_uc003eei.4_Missense_Mutation_p.D1750N|GOLGB1_uc003eej.4_Missense_Mutation_p.D1716N|GOLGB1_uc021xcy.1_Missense_Mutation_p.D1675N|GOLGB1_uc011bjm.1_Missense_Mutation_p.D1636N|GOLGB1_uc010hrd.1_Missense_Mutation_p.D1714N	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	Homo sapiens golgin B1 (GOLGB1), mRNA.	1750					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	p.E1755Q(1)|p.E1755A(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CTTAGAGAGTCTTTCTCAGAC	0.378000												
PRPF19	27339	broad.mit.edu	37	11	60670217	60670217	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:60670217C>T	uc001nqf.3	-	3	590	c.383G>A	c.(382-384)cGa>cAa	p.R128Q		NM_014502	NP_055317	Q9UMS4	PRP19_HUMAN	Homo sapiens PRP19/PSO4 pre-mRNA processing factor 19 homolog (S. cerevisiae) (PRPF19), mRNA.	128					DNA repair|protein polyubiquitination|spliceosome assembly	catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex	DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	22						TGCACCTTCTCGGGCAGCAGT	0.582000												
HIST1H2AC	8334	broad.mit.edu	37	6	26124765	26124765	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:26124765C>T	uc003ngm.3	+	0	393	c.305C>T	c.(304-306)aCc>aTc	p.T102I	HIST1H2BC_uc003ngk.4_5'Flank|HIST1H2BC_uc003ngl.3_5'Flank|HIST1H2AC_uc003ngo.3_Non-coding_Transcript	NM_003512	NP_003503	Q93077	H2A1C_HUMAN	Homo sapiens histone cluster 1, H2ac (HIST1H2AC), mRNA.	102					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(5)	12						GGCCGGGTGACCATTGCTCAG	0.582000												
SEZ6L2	26470	broad.mit.edu	37	16	29889661	29889661	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:29889661G>A	uc010vec.2	-	9	1904	c.1659C>T	c.(1657-1659)tgC>tgT	p.C553C	BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_Silent_p.C483C|SEZ6L2_uc002dur.4_Silent_p.C483C|SEZ6L2_uc002duq.4_Silent_p.C553C|SEZ6L2_uc010ved.2_Silent_p.C509C|SEZ6L2_uc002dus.4_Silent_p.C439C	NM_001243332	NP_001230261	Q6UXD5	SE6L2_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like 2 (SEZ6L2), transcript variant 5, mRNA.	553	CUB 3.					endoplasmic reticulum membrane|integral to membrane|plasma membrane		p.C553C(2)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CGCCCCACACGCAGTCTTGGC	0.607000												
NCALD	83988	broad.mit.edu	37	8	102731525	102731525	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:102731525G>A	uc003yke.3	-	1	702	c.333C>T	c.(331-333)gaC>gaT	p.D111D	NCALD_uc003ykf.3_Silent_p.D111D|NCALD_uc003ykg.3_Silent_p.D111D|NCALD_uc003ykh.3_Silent_p.D111D|NCALD_uc003yki.3_Silent_p.D111D|NCALD_uc003ykj.3_Silent_p.D111D|NCALD_uc003ykk.3_Silent_p.D111D|NCALD_uc003ykl.3_Silent_p.D111D	NM_032041	NP_114430	P61601	NCALD_HUMAN	Homo sapiens neurocalcin delta (NCALD), transcript variant 8, mRNA.	111	EF-hand 3.				synaptic transmission|vesicle-mediated transport	clathrin coat of trans-Golgi network vesicle|cytosol	actin binding|calcium ion binding|clathrin binding|tubulin binding			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)			AGCCATTTCCGTCCAGGTCGT	0.463000												
GATA4	2626	broad.mit.edu	37	8	11615827	11615827	+	Missense_Mutation	SNP	G	G	A	rs147093296		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:11615827G>A	uc011kxc.1	+	5	1632	c.1175G>A	c.(1174-1176)gGc>gAc	p.G392D	GATA4_uc003wub.1_Missense_Mutation_p.G185D|GATA4_uc003wuc.2_Missense_Mutation_p.G391D|C8orf49_uc003wud.1_5'Flank	NM_002052	NP_002043	P43694	GATA4_HUMAN	Homo sapiens GATA binding protein 4 (GATA4), mRNA.	391					atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development	nucleoplasm	activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		GCGATGTCTGGCCATGGGCCC	0.612000												
SRRM4	84530	broad.mit.edu	37	12	119588980	119588980	+	Missense_Mutation	SNP	C	C	A	rs56390632		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:119588980C>A	uc001txa.2	+	9	1623	c.1235C>A	c.(1234-1236)gCt>gAt	p.A412D		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	Homo sapiens serine/arginine repetitive matrix 4 (SRRM4), mRNA.	412	Ser-rich.				RNA splicing|cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						AATCCCAGGGCTTCCCCCAGG	0.552000												
TCIRG1	10312	broad.mit.edu	37	11	67816417	67816417	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:67816417C>T	uc001one.3	+	13	1755	c.1626C>T	c.(1624-1626)ggC>ggT	p.G542G	TCIRG1_uc001ong.3_Silent_p.G326G|TCIRG1_uc009ysd.3_5'Flank	NM_006019	NP_006044	Q13488	VPP3_HUMAN	Homo sapiens T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 (TCIRG1), transcript variant 1, mRNA.	542					ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						TCATCCTGGGCGTCGTGCACA	0.632000												
WDR81	124997	broad.mit.edu	37	17	1634494	1634494	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:1634494C>T	uc002ftj.2	+	3	4228	c.4099C>T	c.(4099-4101)Cgg>Tgg	p.R1367W	WDR81_uc002fth.2_Missense_Mutation_p.R316W|WDR81_uc010vqp.1_Missense_Mutation_p.R164W|WDR81_uc002fti.2_Missense_Mutation_p.R140W|WDR81_uc010vqq.1_Intron	NM_001163809	NP_001157281	B3KXU1	B3KXU1_HUMAN	Homo sapiens WD repeat domain 81 (WDR81), transcript variant 1, mRNA.	140										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CATCCTGCCCCGGATCAGCCA	0.642000												
HSD3B2	3284	broad.mit.edu	37	1	119965056	119965056	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:119965056A>G	uc001ehs.3	+	2	1705	c.932A>G	c.(931-933)cAa>cGa	p.Q311R	HSD3B2_uc021ost.1_Missense_Mutation_p.Q311R|HSD3B2_uc001eht.3_Missense_Mutation_p.Q311R|HSD3B2_uc001ehu.3_Intron	NM_001166120	NP_001159592	P26439	3BHS2_HUMAN	Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 (HSD3B2), transcript variant 2, mRNA.	311					androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	TACTCCTATCAACCCCCCTTC	0.488000												
CLTC	1213	broad.mit.edu	37	17	57725723	57725723	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:57725723G>A	uc002ixr.1	+	3	1097	c.654G>A	c.(652-654)acG>acA	p.T218T	CLTC_uc002ixp.3_Silent_p.T214T|CLTC_uc002ixq.1_Silent_p.T214T	NM_004859	NP_004850	Q00610	CLH1_HUMAN	Homo sapiens clathrin, heavy chain (Hc) (CLTC), mRNA.	214	Globular terminal domain.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					AAGAATCAACGTTATTTTGTT	0.398000			T	"""ALK, TFE3"""	"""ALCL, renal """							
ZBED4	9889	broad.mit.edu	37	22	50277562	50277562	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:50277562C>T	uc003bix.2	+	1	722	c.252C>T	c.(250-252)ggC>ggT	p.G84G	ZBED4_uc021wrx.1_Silent_p.G84G	NM_014838	NP_055653	O75132	ZBED4_HUMAN	Homo sapiens zinc finger, BED-type containing 4 (ZBED4), mRNA.	84						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity	p.G84V(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		ATGACTATGGCGCGCTGTTCT	0.622000												
NT5C	30833	broad.mit.edu	37	17	73126663	73126663	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:73126663T>C	uc002jmx.3	-	4	614	c.526A>G	c.(526-528)Aca>Gca	p.T176A	NT5C_uc002jmy.3_Non-coding_Transcript|NT5C_uc021ucw.1_Missense_Mutation_p.T136A	NM_014595	NP_055410	Q8TCD5	NT5C_HUMAN	Homo sapiens 5', 3'-nucleotidase, cytosolic (NT5C), transcript variant 1, mRNA.	176					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine deoxyribonucleotide catabolic process|pyrimidine nucleoside catabolic process	cytosol|nucleus	5'-nucleotidase activity|metal ion binding|pyrimidine nucleotide binding					all_lung(278;0.14)|Lung NSC(278;0.168)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)			CGTCTCCTTGTCGGGGGCAGG	0.632000											OREG0024728	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PDE2A	5138	broad.mit.edu	37	11	72295250	72295250	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:72295250C>T	uc010rrc.2	-	18	1891	c.1645G>A	c.(1645-1647)Gcc>Acc	p.A549T	PDE2A_uc001oso.3_Missense_Mutation_p.A528T|PDE2A_uc010rra.2_Missense_Mutation_p.A542T|PDE2A_uc001osn.3_Missense_Mutation_p.A293T|PDE2A_uc010rrb.2_Missense_Mutation_p.A540T|PDE2A_uc010rrd.2_Missense_Mutation_p.A434T	NM_002599	NP_002590	O00408	PDE2A_HUMAN	Homo sapiens phosphodiesterase 2A, cGMP-stimulated (PDE2A), transcript variant 1, mRNA.	549					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	CTCACATGGGCGATGCTGATG	0.632000												
SIPA1L3	23094	broad.mit.edu	37	19	38600928	38600928	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:38600928C>T	uc002ohk.3	+	7	2704	c.2195C>T	c.(2194-2196)gCg>gTg	p.A732V		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	732	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	p.A732A(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GAGCCTGGCGCGCTACCGTTC	0.547000												
IAPP	3375	broad.mit.edu	37	12	21531352	21531352	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:21531352C>A	uc001rev.3	+	2	414	c.262C>A	c.(262-264)Ccc>Acc	p.P88T	SLCO1A2_uc010siq.2_Intron|SLCO1A2_uc001res.3_Intron	NM_000415	NP_000406	P10997	IAPP_HUMAN	Homo sapiens islet amyloid polypeptide (IAPP), mRNA.	88					apoptosis|cell-cell signaling|endocrine pancreas development|signal transduction	extracellular region|soluble fraction	hormone activity			lung(3)	3					Perindopril(DB00790)	GAATTACTTGCCCCTTTAGAG	0.383000												
PLXNA1	5361	broad.mit.edu	37	3	126708525	126708525	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:126708525G>A	uc003ejg.3	+	0	1089	c.1089G>A	c.(1087-1089)agG>agA	p.R363R		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	Homo sapiens plexin A1 (PLXNA1), mRNA.	363	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		TCACGCTCAGGGCCATCAAGG	0.597000												
TKTL2	84076	broad.mit.edu	37	4	164393888	164393888	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:164393888G>A	uc003iqp.4	-	0	1160	c.999C>T	c.(997-999)ggC>ggT	p.G333G		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	Homo sapiens transketolase-like 2 (TKTL2), mRNA.	333						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				catttgcacggcccagtttag	0.423000												
CCND3	896	broad.mit.edu	37	6	41904988	41904988	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:41904988C>T	uc003orn.3	-	2	724	c.559G>A	c.(559-561)Gcc>Acc	p.A187T	CCND3_uc003orp.3_Missense_Mutation_p.A106T|CCND3_uc011duk.2_5'UTR|CCND3_uc011dum.1_Missense_Mutation_p.A106T|CCND3_uc003orm.3_Missense_Mutation_p.A137T|CCND3_uc003oro.3_Missense_Mutation_p.A115T|CCND3_uc011dul.1_Missense_Mutation_p.A115T	NM_001760	NP_001129489	P30281	CCND3_HUMAN	Homo sapiens cyclin D3 (CCND3), transcript variant 2, mRNA.	187					cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(13)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	20	Colorectal(47;0.121)		Epithelial(12;0.000178)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GCACAGAGGGCCAAAAAGGTC	0.473000			T	IGH@	MM							
DHX37	57647	broad.mit.edu	37	12	125448952	125448952	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:125448952C>T	uc001ugy.3	-	14	2132	c.2033G>A	c.(2032-2034)gGc>gAc	p.G678D		NM_032656	NP_116045	Q8IY37	DHX37_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 37 (DHX37), mRNA.	678	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		GTAGCAGTGGCCGGGCTCCGT	0.642000												
SP3	6670	broad.mit.edu	37	2	174774752	174774752	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:174774752C>T	uc002uig.3	-	6	2794	c.2263G>A	c.(2263-2265)Gcc>Acc	p.A755T	SP3_uc002uie.3_Missense_Mutation_p.A687T|SP3_uc002uif.3_Missense_Mutation_p.A702T|SP3_uc010zel.2_Missense_Mutation_p.A752T	NM_003111	NP_003102	Q02447	SP3_HUMAN	Homo sapiens Sp3 transcription factor (SP3), transcript variant 1, mRNA.	755					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			TTGCTGGTGGCGGAAGTATTA	0.388000												
ACADS	35	broad.mit.edu	37	12	121177116	121177116	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:121177116C>T	uc001tza.4	+	9	1222	c.1104C>T	c.(1102-1104)ggC>ggT	p.G368G		NM_000017	NP_000008	P16219	ACADS_HUMAN	Homo sapiens acyl-CoA dehydrogenase, C-2 to C-3 short chain (ACADS), nuclear gene encoding mitochondrial protein, mRNA.	368						mitochondrial matrix	butyryl-CoA dehydrogenase activity			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			NADH(DB00157)	AGATCCTGGGCGGCATGGGCT	0.642000												
CCDC40	55036	broad.mit.edu	37	17	78013765	78013765	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:78013765C>T	uc010dht.3	+	2	279	c.248C>T	c.(247-249)gCt>gTt	p.A83V	CCDC40_uc010wub.2_Missense_Mutation_p.A83V|CCDC40_uc021uem.1_Missense_Mutation_p.A83V	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	Homo sapiens coiled-coil domain containing 40 (CCDC40), transcript variant 1, mRNA.	83					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			gaagaggaggCTGTGTCCTAT	0.512000												
MAPK6	5597	broad.mit.edu	37	15	52356133	52356133	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:52356133C>T	uc002abp.3	+	5	1896	c.1102C>T	c.(1102-1104)Cct>Tct	p.P368S		NM_002748	NP_002739	Q16659	MK06_HUMAN	Homo sapiens mitogen-activated protein kinase 6 (MAPK6), mRNA.	368					cell cycle		ATP binding|MAP kinase activity			breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20				all cancers(107;0.0028)		GCATGATTGGCCTGTACATAA	0.363000												
ZCCHC11	23318	broad.mit.edu	37	1	52954594	52954594	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:52954594C>T	uc001cty.2	-	8	1755	c.1502G>A	c.(1501-1503)cGc>cAc	p.R501H	ZCCHC11_uc001ctx.2_Missense_Mutation_p.R501H|ZCCHC11_uc009vze.1_Missense_Mutation_p.R501H|ZCCHC11_uc009vzf.1_Missense_Mutation_p.R260H|ZCCHC11_uc001cub.3_Missense_Mutation_p.R501H|ZCCHC11_uc001cuc.2_Non-coding_Transcript	NM_001009881	NP_001009881	Q5TAX3	TUT4_HUMAN	Homo sapiens zinc finger, CCHC domain containing 11 (ZCCHC11), transcript variant 1, mRNA.	501					RNA 3'-end processing|miRNA catabolic process|pre-miRNA processing|stem cell maintenance	cytoplasm|nucleolus	RNA uridylyltransferase activity|nucleic acid binding|protein binding|zinc ion binding	p.R501C(1)		NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						AGCCCAGTAGCGAAAGGCTAA	0.373000												
DNMT3B	1789	broad.mit.edu	37	20	31386409	31386409	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:31386409G>A	uc002wyc.3	+	14	1955	c.1634G>A	c.(1633-1635)cGc>cAc	p.R545H	DNMT3B_uc010ztx.1_Non-coding_Transcript|DNMT3B_uc010zty.1_Non-coding_Transcript|DNMT3B_uc002wyd.3_Missense_Mutation_p.R525H|DNMT3B_uc002wye.3_Missense_Mutation_p.R525H|DNMT3B_uc010ztz.2_Missense_Mutation_p.R483H|DNMT3B_uc010zua.2_Missense_Mutation_p.R449H|DNMT3B_uc010gee.3_Non-coding_Transcript|DNMT3B_uc010gef.3_Non-coding_Transcript|DNMT3B_uc002wyf.3_Missense_Mutation_p.R537H|DNMT3B_uc002wyg.3_Missense_Mutation_p.R244H|DNMT3B_uc010geg.3_5'Flank|DNMT3B_uc010geh.3_5'Flank	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3 beta (DNMT3B), transcript variant 1, mRNA.	545	ADD.				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGGAACGTGCGCCTGCAGGCC	0.627000												
TRRAP	8295	broad.mit.edu	37	7	98522829	98522829	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:98522829C>T	uc003upp.3	+	21	3127	c.2918C>T	c.(2917-2919)gCc>gTc	p.A973V	TRRAP_uc011kis.2_Missense_Mutation_p.A973V|TRRAP_uc003upr.3_Missense_Mutation_p.A665V	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	973					histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	p.A973A(1)|p.A973S(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TTCCTGGTGGCCATGATGAGC	0.557000												
SUN2	25777	broad.mit.edu	37	22	39148607	39148607	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:39148607C>T	uc011anz.2	-	2	183	c.132G>A	c.(130-132)acG>acA	p.T44T	SUN2_uc011aoa.2_Silent_p.T44T|SUN2_uc003awh.2_Silent_p.T9T|SUN2_uc010gxq.2_Silent_p.T9T|SUN2_uc003awi.2_Silent_p.T9T|SUN2_uc010gxr.2_Silent_p.T9T	NM_015374	NP_056189	Q9UH99	SUN2_HUMAN	Homo sapiens Sad1 and UNC84 domain containing 2 (SUN2), transcript variant 2, mRNA.	9	LMNA-binding (By similarity).|Ser-rich.				centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|endosome membrane|integral to membrane|nuclear inner membrane	lamin binding|microtubule binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						GGGAGTAGCGCGTGAGGCGCT	0.592000												
HHLA2	11148	broad.mit.edu	37	3	108076864	108076864	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:108076864C>T	uc003dwz.3	+	5	1273	c.859C>T	c.(859-861)Cga>Tga	p.R287*	HHLA2_uc011bhl.2_Nonsense_Mutation_p.R223*|HHLA2_uc010hpu.3_Nonsense_Mutation_p.R287*|HHLA2_uc003dwy.4_Nonsense_Mutation_p.R287*	NM_007072	NP_009003	Q9UM44	HHLA2_HUMAN	Homo sapiens HERV-H LTR-associating 2 (HHLA2), mRNA.	287	Ig-like V-type 2.					integral to membrane		p.R287R(3)		endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						CAATGAATCCCGATTCTCATG	0.378000												
AAK1	22848	broad.mit.edu	37	2	69870045	69870045	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:69870045C>T	uc002sfp.2	-	1	633	c.128G>A	c.(127-129)cGa>cAa	p.R43Q	AAK1_uc010fdk.2_Missense_Mutation_p.R43Q|AAK1_uc010yqm.1_Missense_Mutation_p.R43Q|AAK1_uc010fdm.1_Missense_Mutation_p.R43Q	NM_014911	NP_055726	Q2M2I8	AAK1_HUMAN	Homo sapiens AP2 associated kinase 1 (AAK1), mRNA.	43						coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						GACCTGCTGTCGCCCGATGCC	0.622000												
SFMBT2	57713	broad.mit.edu	37	10	7409677	7409677	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:7409677C>G	uc009xio.2	-	3	461	c.370G>C	c.(370-372)Gtc>Ctc	p.V124L	SFMBT2_uc001ijn.2_Missense_Mutation_p.V124L|SFMBT2_uc010qay.2_Missense_Mutation_p.V124L|SFMBT2_uc001ijo.2_Missense_Mutation_p.V124L	NM_001018039	NP_001018049	Q5VUG0	SMBT2_HUMAN	Homo sapiens Scm-like with four mbt domains 2 (SFMBT2), transcript variant 2, mRNA.	124					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						TCCGCGATGACTACGTCACAC	0.602000												
GLB1L2	89944	broad.mit.edu	37	11	134240273	134240273	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:134240273G>A	uc001qhp.3	+	11	1383	c.1195G>A	c.(1195-1197)Gcc>Acc	p.A399T	GLB1L2_uc009zdg.1_Non-coding_Transcript	NM_138342	NP_612351	Q8IW92	GLBL2_HUMAN	Homo sapiens galactosidase, beta 1-like 2 (GLB1L2), mRNA.	399					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		TCTGTGGGACGCCCTCAAGTA	0.612000												
NPHP3	27031	broad.mit.edu	37	3	132407734	132407734	+	Splice_Site	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:132407734G>A	uc003epe.2	-	21	2988	c.2884_splice	c.e21-1	p.A962_splice	NPHP3_uc003epd.2_Splice_Site_p.A204_splice	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN	Homo sapiens nephronophthisis 3 (adolescent) (NPHP3), mRNA.	962					Wnt receptor signaling pathway|maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGGTACTATGGCCTGGGGGGA	0.433000												
TNXB	7148	broad.mit.edu	37	6	32020573	32020573	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:32020573G>A	uc003nzl.2	-	25	9185	c.8983C>T	c.(8983-8985)Cgt>Tgt	p.R2995C		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	3042					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						CCCCTGACACGCACCACCTGG	0.682000												
DEDD	9191	broad.mit.edu	37	1	161094125	161094125	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:161094125C>T	uc009wty.3	-	1	225	c.128G>A	c.(127-129)cGc>cAc	p.R43H	NIT1_uc001fxw.3_3'UTR|DEDD_uc001fxz.3_Missense_Mutation_p.R43H|DEDD_uc001fya.3_Missense_Mutation_p.R43H|DEDD_uc001fyb.3_Missense_Mutation_p.R43H|DEDD_uc010pkb.2_Intron	NM_001039712	NP_127491	O75618	DEDD_HUMAN	Homo sapiens death effector domain containing (DEDD), transcript variant 4, mRNA.	43	DED.				apoptosis|induction of apoptosis via death domain receptors|negative regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			cervix(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|skin(1)	10	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			AGAAAGCACGCGCACATCTCT	0.547000												
HLA-F	3134	broad.mit.edu	37	6	29692164	29692164	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:29692164C>T	uc003nno.4	+	2	673	c.549C>T	c.(547-549)ggC>ggT	p.G183G	HLA-F_uc010jrl.3_Silent_p.G183G|HLA-F_uc003nnm.4_Silent_p.G183G|HLA-F_uc011dlx.1_Silent_p.G183G|HLA-F_uc011dly.1_Non-coding_Transcript	NM_001098479	NP_001091949	P30511	HLAF_HUMAN	Homo sapiens major histocompatibility complex, class I, F (HLA-F), transcript variant 1, mRNA.	183	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to membrane	MHC class I receptor activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						ACCTGGAGGGCGAGTGCCTGG	0.612000												
FAT3	120114	broad.mit.edu	37	11	92507336	92507336	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:92507336C>T	uc001pdj.4	+	5	4342	c.4325C>T	c.(4324-4326)gCt>gTt	p.A1442V		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	1442	Cadherin 13.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACAAATGTTGCTGTTACTCAG	0.423000										TCGA Ovarian(4;0.039)		
MTRF1	9617	broad.mit.edu	37	13	41834827	41834827	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:41834827T>C	uc010tff.2	-	2	475	c.256A>G	c.(256-258)Aaa>Gaa	p.K86E	MTRF1_uc001uxx.3_Missense_Mutation_p.K73E|MTRF1_uc001uxy.3_Missense_Mutation_p.K73E|MTRF1_uc001uxz.3_5'UTR|MTRF1_uc001uyc.1_Missense_Mutation_p.K73E			O75570	RF1M_HUMAN	Homo sapiens mitochondrial translational release factor 1 (MTRF1), nuclear gene encoding mitochondrial protein, mRNA.	73					regulation of translational termination	mitochondrion	translation release factor activity, codon specific			breast(1)|endometrium(4)|large_intestine(3)|lung(6)	14		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125)		OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248)		TGTAGTGCTTTATGCTTCCAG	0.408000												
ZNF585A	199704	broad.mit.edu	37	19	37643373	37643373	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:37643373G>A	uc002ofo.1	-	4	1659	c.1428C>T	c.(1426-1428)acC>acT	p.T476T	ZNF585A_uc002ofm.1_Silent_p.T421T|ZNF585A_uc002ofn.1_Silent_p.T421T	NM_199126	NP_954577	Q6P3V2	Z585A_HUMAN	Homo sapiens zinc finger protein 585A (ZNF585A), transcript variant 2, mRNA.	476					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTGACCGGTTGGTGAATGCCT	0.413000												
PLXNA1	5361	broad.mit.edu	37	3	126733356	126733356	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:126733356G>A	uc003ejg.3	+	11	2640	c.2640G>A	c.(2638-2640)acG>acA	p.T880T		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	Homo sapiens plexin A1 (PLXNA1), mRNA.	880	IPT/TIG 1.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		AGGGCGGCACGCGGCTCACTA	0.692000												
FZR1	51343	broad.mit.edu	37	19	3523019	3523019	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:3523019G>A	uc010dtk.2	+	0	66	c.32G>A	c.(31-33)cGc>cAc	p.R11H	FZR1_uc002lxt.2_Missense_Mutation_p.R11H|FZR1_uc002lxv.2_Missense_Mutation_p.R11H	NM_001136198	NP_001129670	Q9UM11	FZR_HUMAN	Homo sapiens fizzy/cell division cycle 20 related 1 (Drosophila) (FZR1), transcript variant 1, mRNA.	11					DNA repair|G2/M transition DNA damage checkpoint|S phase of mitotic cell cycle|activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm	protein binding			endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCCTGCTTCGCCAGATCGTC	0.687000												
SECISBP2L	9728	broad.mit.edu	37	15	49304895	49304895	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:49304895C>T	uc001zxe.2	-	11	1945	c.1681G>A	c.(1681-1683)Gga>Aga	p.G561R	SECISBP2L_uc001zxd.2_Missense_Mutation_p.G516R|SECISBP2L_uc010bep.2_Missense_Mutation_p.G323R	NM_001193489	NP_001180418	Q93073	SBP2L_HUMAN	Homo sapiens SECIS binding protein 2-like (SECISBP2L), transcript variant 1, mRNA.	561										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						TTCTCTTTTCCTTTTTTTGCT	0.333000												
XIRP2	129446	broad.mit.edu	37	2	168099163	168099163	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:168099163A>G	uc002udx.3	+	8	1350	c.1261A>G	c.(1261-1263)Aag>Gag	p.K421E	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.K246E|XIRP2_uc010fpq.3_Missense_Mutation_p.K199E|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	246					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CAGCCAGAGGAAGGAAACATC	0.413000												
GRM8	2918	broad.mit.edu	37	7	126883250	126883250	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:126883250G>A	uc003vlr.2	-	0	320	c.9C>T	c.(7-9)tgC>tgT	p.C3C	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Silent_p.C3C|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	3					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GCTTTCCCTCGCATACCATTT	0.498000										HNSCC(24;0.065)	OREG0003802	type=REGULATORY REGION|Gene=GRM8|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay
PDS5B	23047	broad.mit.edu	37	13	33344393	33344393	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:33344393C>T	uc010abf.3	+	31	3945	c.3759C>T	c.(3757-3759)ggC>ggT	p.G1253G	PDS5B_uc010abg.3_Non-coding_Transcript	NM_015032	NP_055847	Q9NTI5	PDS5B_HUMAN	Homo sapiens PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae) (PDS5B), mRNA.	1253					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		GGAAAAGAGGCCATACGGCTT	0.443000												
ZNF366	167465	broad.mit.edu	37	5	71743088	71743088	+	Missense_Mutation	SNP	G	G	A	rs144490986		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:71743088G>A	uc003kce.1	-	3	1867	c.1681C>T	c.(1681-1683)Cgg>Tgg	p.R561W		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	Homo sapiens zinc finger protein 366 (ZNF366), mRNA.	561					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E560E(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		TGAAGGCCCCGCTCCATGACT	0.507000												
ASTN2	23245	broad.mit.edu	37	9	119488134	119488134	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:119488134C>T	uc004bjt.2	-	14	2670	c.2569G>A	c.(2569-2571)Gcc>Acc	p.A857T	ASTN2_uc022bml.1_Missense_Mutation_p.A553T|ASTN2_uc022bmm.1_Missense_Mutation_p.A557T	NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	908						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						CCATAGAGGGCCTCTGCGATG	0.557000												
PARG	8505	broad.mit.edu	37	10	51087787	51087787	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:51087787G>A	uc001jih.3	-	9	2061	c.1920C>T	c.(1918-1920)tgC>tgT	p.C640C	PARG_uc009xoj.3_Silent_p.C191C|PARG_uc001jif.3_Silent_p.C640C|PARG_uc001jig.3_Silent_p.C226C|PARG_uc010qgv.2_Intron|PARG_uc009xoi.3_Intron|PARG_uc010qgw.2_Silent_p.C531C|PARG_uc010qgx.2_Silent_p.C558C	NM_003631	NP_003622	Q86W56	PARG_HUMAN	Homo sapiens poly (ADP-ribose) glycohydrolase (PARG), mRNA.	640					carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity			endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		GTGGAAATGTGCAGAAGAAAG	0.383000												
SRPK2	6733	broad.mit.edu	37	7	104783607	104783607	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:104783607G>A	uc003vct.3	-	8	1138	c.951C>T	c.(949-951)ggC>ggT	p.G317G	SRPK2_uc003vcu.3_Silent_p.G317G|SRPK2_uc003vcv.3_Silent_p.G328G|SRPK2_uc003vcw.1_Silent_p.G317G	NM_182691	NP_872633	P78362	SRPK2_HUMAN	Homo sapiens SRSF protein kinase 2 (SRPK2), transcript variant 2, mRNA.	317	Protein kinase.				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.G317D(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						GGCAGTATTCGCCATCCTGGT	0.502000												
CCDC150	284992	broad.mit.edu	37	2	197521851	197521851	+	Silent	SNP	G	G	A	rs146046280	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:197521851G>A	uc002utp.1	+	3	702	c.567G>A	c.(565-567)tcG>tcA	p.S189S	CCDC150_uc002uto.1_Silent_p.S189S|CCDC150_uc010zgq.1_Non-coding_Transcript|CCDC150_uc010zgr.1_Intron|CCDC150_uc010zgs.1_Intron	NM_001080539	NP_001074008	Q8NCX0	CC150_HUMAN	Homo sapiens coiled-coil domain containing 150 (CCDC150), mRNA.	189										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						AGATTGCCTCGCAGACAAAGG	0.428000												
ABCC3	8714	broad.mit.edu	37	17	48755223	48755223	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:48755223G>A	uc002isl.3	+	23	3577	c.3497G>A	c.(3496-3498)cGc>cAc	p.R1166H	ABCC3_uc002isn.3_5'Flank	NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	1166	ABC transmembrane type-1 2.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	GCCTACAACCGCAGCCGGGAT	0.557000												
LAPTM4B	55353	broad.mit.edu	37	8	98827574	98827574	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:98827574C>T	uc003yia.3	+	2	659	c.503C>T	c.(502-504)gCg>gTg	p.A168V	LAPTM4B_uc010mbg.3_Intron	NM_018407	NP_060877	Q86VI4	LAP4B_HUMAN	Homo sapiens lysosomal protein transmembrane 4 beta (LAPTM4B), mRNA.	221					transport	endomembrane system|integral to membrane	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	10	Breast(36;1.59e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.149)			ATTGCCATTGCGATTTCTCTT	0.413000												
NRXN2	9379	broad.mit.edu	37	11	64434955	64434955	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:64434955C>T	uc021qkw.1	-	8	2027	c.1565G>A	c.(1564-1566)cGc>cAc	p.R522H	NRXN2_uc021qkx.1_Missense_Mutation_p.R491H|NRXN2_uc001oas.3_Missense_Mutation_p.R491H|NRXN2_uc001oaq.3_Missense_Mutation_p.R189H	NM_015080	NP_055895	Q9P2S2	NRX2A_HUMAN	Homo sapiens neurexin 2 (NRXN2), transcript variant alpha-1, mRNA.	522	Laminin G-like 3.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CTCGGTGGTGCGGAAGTCTAG	0.677000												
FAM120A	23196	broad.mit.edu	37	9	96324555	96324555	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:96324555G>A	uc004atw.3	+	16	3039	c.3014G>A	c.(3013-3015)gGc>gAc	p.G1005D	FAM120A_uc004aty.3_Missense_Mutation_p.G786D|FAM120A_uc004atz.3_Missense_Mutation_p.G653D|FAM120A_uc010mrg.3_Missense_Mutation_p.G272D|FAM120A_uc004aua.1_5'Flank	NM_014612	NP_055427	Q9NZB2	F120A_HUMAN	Homo sapiens family with sequence similarity 120A (FAM120A), mRNA.	1005	RNA binding.					cytoplasm|plasma membrane	RNA binding			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AGGTACTATGGCAGAGGTTAC	0.438000												
CCR5	1234	broad.mit.edu	37	3	46414590	46414590	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:46414590A>G	uc003cpo.4	+	2	319	c.197A>G	c.(196-198)gAc>gGc	p.D66G	CCR5_uc010hjd.3_Missense_Mutation_p.D66G|CCR5_uc021wxb.1_Missense_Mutation_p.D66G	NM_001100168	NP_001093638	P51681	CCR5_HUMAN	Homo sapiens chemokine (C-C motif) receptor 5 (gene/pseudogene) (CCR5), transcript variant B, mRNA.	66					cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	C-C chemokine receptor activity|actin binding|coreceptor activity|phosphatidylinositol phospholipase C activity			central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	AGCATGACTGACATCTACCTG	0.502000												
HFM1	164045	broad.mit.edu	37	1	91844024	91844024	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:91844024C>T	uc001doa.4	-	9	1271	c.1172G>A	c.(1171-1173)aGc>aAc	p.S391N	HFM1_uc010osu.2_Missense_Mutation_p.S70N|HFM1_uc010osv.1_Missense_Mutation_p.S75N|HFM1_uc001doc.1_Missense_Mutation_p.S391N	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	Homo sapiens HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) (HFM1), mRNA.	391	Helicase ATP-binding.						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)		CCTAGTCATGCTATCCCATTT	0.313000												
SETD3	84193	broad.mit.edu	37	14	99932082	99932082	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:99932082A>G	uc001ygc.3	-	1	231	c.61T>C	c.(61-63)Tca>Cca	p.S21P	SETD3_uc001ygd.3_Missense_Mutation_p.S21P|SETD3_uc021sbn.1_Missense_Mutation_p.S21P|SETD3_uc001ygf.3_Missense_Mutation_p.S21P	NM_032233	NP_115609	Q86TU7	SETD3_HUMAN	Homo sapiens SET domain containing 3 (SETD3), transcript variant 1, mRNA.	21					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				TCCTTTGGTGACACAGTTGCT	0.448000												
PDGFRB	5159	broad.mit.edu	37	5	149501454	149501454	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:149501454T>C	uc003lro.3	-	15	2802	c.2333A>G	c.(2332-2334)tAc>tGc	p.Y778C	PDGFRB_uc010jhd.3_Missense_Mutation_p.Y617C	NM_002609	NP_002600	P09619	PGFRB_HUMAN	Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA.	778	Protein kinase.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGAGGGAACGTAGTTATCGTA	0.512000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""							
ZFHX4	79776	broad.mit.edu	37	8	77766752	77766752	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:77766752C>T	uc003yau.2	+	9	7982	c.7595C>T	c.(7594-7596)cCc>cTc	p.P2532L	ZFHX4_uc003yaw.1_Missense_Mutation_p.P2487L	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2487						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TTGGAAAGGCCCATGGACATG	0.527000										HNSCC(33;0.089)		
ADAMTS5	11096	broad.mit.edu	37	21	28296541	28296541	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr21:28296541G>A	uc002ymg.3	-	7	3353	c.2624C>T	c.(2623-2625)tCg>tTg	p.S875L		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 5 (ADAMTS5), mRNA.	875	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	p.S875L(4)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						CTGCGGCTGCGAAGTGTGTGA	0.527000												
DPP8	54878	broad.mit.edu	37	15	65790263	65790263	+	Silent	SNP	G	G	A	rs147893429		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:65790263G>A	uc002aov.3	-	4	2280	c.702C>T	c.(700-702)aaC>aaT	p.N234N	DPP8_uc002aow.3_Silent_p.N234N|DPP8_uc010uiv.2_Non-coding_Transcript|DPP8_uc021soz.1_Silent_p.N218N|DPP8_uc002aox.3_Silent_p.N218N|DPP8_uc002aoy.3_Silent_p.N234N|DPP8_uc002aoz.3_Silent_p.N218N|DPP8_uc010bhj.3_Silent_p.N234N	NM_130434	NP_569118	Q6V1X1	DPP8_HUMAN	Homo sapiens dipeptidyl-peptidase 8 (DPP8), transcript variant 1, mRNA.	234					immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TCCAAATATCGTTGCTATGTA	0.398000												
ATP7A	538	broad.mit.edu	37	X	77243895	77243895	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:77243895C>T	uc004ecx.4	+	2	438	c.278C>T	c.(277-279)aCg>aTg	p.T93M	ATP7A_uc004ecw.2_Missense_Mutation_p.T93M	NM_000052	NP_000043	Q04656	ATP7A_HUMAN	Homo sapiens ATPase, Cu++ transporting, alpha polypeptide (ATP7A), mRNA.	93					ATP biosynthetic process|T-helper cell differentiation|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|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						CTGACTGTTACGGCGTCACTG	0.443000												
ZNF470	388566	broad.mit.edu	37	19	57081729	57081729	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:57081729G>A	uc002qnl.4	+	2	725	c.49G>A	c.(49-51)Gcc>Acc	p.A17T	BX647249_uc002qnk.1_5'Flank|ZNF470_uc010etn.3_Non-coding_Transcript	NM_001001668	NP_001001668	Q6ECI4	ZN470_HUMAN	Homo sapiens zinc finger protein 470 (ZNF470), mRNA.	17					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		ACTTTGTAAAGCCATGTCCCT	0.408000												
FAM98C	147965	broad.mit.edu	37	19	38895587	38895587	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:38895587G>A	uc002oin.1	+	3	408	c.389G>A	c.(388-390)tGc>tAc	p.C130Y	FAM98C_uc002oio.1_Missense_Mutation_p.C130Y|FAM98C_uc010xtz.1_Intron	NM_174905	NP_777565	Q17RN3	FA98C_HUMAN	Homo sapiens family with sequence similarity 98, member C (FAM98C), mRNA.	130										endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CGCCTCCTGTGCCTCCGCTCT	0.592000												
FAT1	2195	broad.mit.edu	37	4	187540638	187540638	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:187540638G>A	uc003izf.3	-	9	7290	c.7102C>T	c.(7102-7104)Ccc>Tcc	p.P2368S		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	2368	Cadherin 21.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CTCAGCGTGGGCATACCACCA	0.498000										HNSCC(5;0.00058)		
FNDC3A	22862	broad.mit.edu	37	13	49688825	49688825	+	Silent	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:49688825T>C	uc001vcm.3	+	3	515	c.210T>C	c.(208-210)ggT>ggC	p.G70G	FNDC3A_uc001vcl.1_Silent_p.G70G|FNDC3A_uc001vcn.3_Silent_p.G70G|FNDC3A_uc001vco.3_Non-coding_Transcript|FNDC3A_uc001vcp.1_Silent_p.G14G|FNDC3A_uc001vcq.3_Silent_p.G14G	NM_001079673	NP_001073141	Q9Y2H6	FND3A_HUMAN	Homo sapiens fibronectin type III domain containing 3A (FNDC3A), transcript variant 1, mRNA.	70	Pro-rich.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		CCCCAAATGGTTCTGTGCCTC	0.373000												
OR8B8	26493	broad.mit.edu	37	11	124310510	124310510	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:124310510C>T	uc010sal.2	-	0	472	c.472G>A	c.(472-474)Gcc>Acc	p.A158T		NM_012378	NP_036510	Q15620	OR8B8_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 8 (OR8B8), mRNA.	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		GCTGTGTGGGCCATGGCCCCA	0.527000												
TAPBP	6892	broad.mit.edu	37	6	33273060	33273060	+	Missense_Mutation	SNP	C	C	T	rs146216992		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:33273060C>T	uc003odx.2	-	3	920	c.574G>A	c.(574-576)Gcc>Acc	p.A192T	TAPBP_uc010jut.2_Missense_Mutation_p.A105T|TAPBP_uc003odz.3_Missense_Mutation_p.A192T|TAPBP_uc003ody.3_Missense_Mutation_p.A192T|TAPBP_uc011drc.2_Missense_Mutation_p.A192T	NM_003190	NP_003181	O15533	TPSN_HUMAN	Homo sapiens TAP binding protein (tapasin) (TAPBP), transcript variant 1, mRNA.	192					antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|MHC class I peptide loading complex|microsome	MHC class I protein binding|TAP1 binding|TAP2 binding|peptide antigen binding|peptide antigen-transporting ATPase activity|unfolded protein binding	p.A192V(1)		endometrium(2)|large_intestine(5)|lung(8)|ovary(3)	18						AGAGATGAGGCGGCCTCGGAG	0.632000												
TRPA1	8989	broad.mit.edu	37	8	72968043	72968043	+	Silent	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:72968043A>G	uc003xza.3	-	10	1417	c.1242T>C	c.(1240-1242)tgT>tgC	p.C414C	LOC100132891_uc011lff.2_Non-coding_Transcript|LOC100132891_uc022avt.1_Non-coding_Transcript|LOC100132891_uc003xyy.3_Non-coding_Transcript	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily A, member 1 (TRPA1), mRNA.	414						integral to plasma membrane		p.C414S(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	GTAGAGGAGTACACCCATCGT	0.363000												
MUC17	140453	broad.mit.edu	37	7	100684849	100684849	+	Silent	SNP	T	T	C	rs35584551		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:100684849T>C	uc003uxp.1	+	2	10205	c.10152T>C	c.(10150-10152)gcT>gcC	p.A3384A	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3384	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTACAACTGCTGAAGGTACCA	0.507000												
RBM6	10180	broad.mit.edu	37	3	50005976	50005976	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:50005976C>T	uc003cyc.3	+	2	1366	c.1118C>T	c.(1117-1119)tCt>tTt	p.S373F	RBM6_uc011bdh.2_Non-coding_Transcript|RBM6_uc010hlc.2_Intron|RBM6_uc003cyd.3_Intron|RBM6_uc011bdi.2_Intron|RBM6_uc003cye.3_Intron|RBM6_uc010hlf.2_Intron|RBM6_uc010hld.2_Intron|RBM6_uc010hle.2_Intron	NM_005777	NP_001161054	P78332	RBM6_HUMAN	Homo sapiens RNA binding motif protein 6 (RBM6), transcript variant 1, mRNA.	373					RNA processing	nucleus	DNA binding|RNA binding|nucleotide binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		TCACAGCTTTCTGGACGTGAA	0.473000												
ATG7	10533	broad.mit.edu	37	3	11372822	11372822	+	Silent	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:11372822T>C	uc003bwc.3	+	7	804	c.687T>C	c.(685-687)atT>atC	p.I229I	ATG7_uc003bwd.3_Silent_p.I229I|ATG7_uc011aum.2_Silent_p.I190I	NM_006395	NP_006386	O95352	ATG7_HUMAN	Homo sapiens ATG7 autophagy related 7 homolog (S. cerevisiae) (ATG7), transcript variant 1, mRNA.	229					autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						AGATAACAATTGGTGTATATG	0.403000												
AGTR1	185	broad.mit.edu	37	3	148458931	148458931	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:148458931A>G	uc003ewg.3	+	3	555	c.109A>G	c.(109-111)Atc>Gtc	p.I37V	AGTR1_uc003ewh.3_Missense_Mutation_p.I37V|AGTR1_uc003ewi.3_Missense_Mutation_p.I37V|AGTR1_uc003ewj.3_Missense_Mutation_p.I37V|AGTR1_uc003ewk.3_Missense_Mutation_p.I37V|AGTR1_uc021xfj.1_Missense_Mutation_p.I37V	NM_031850	NP_114438	P30556	AGTR1_HUMAN	Homo sapiens angiotensin II receptor, type 1 (AGTR1), transcript variant 4, mRNA.	37					Rho protein signal transduction|calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of NAD(P)H oxidase activity|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity	p.I37I(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	TTTATACAGTATCATCTTTGT	0.348000												
CES1	1066	broad.mit.edu	37	16	55855375	55855375	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:55855375G>A	uc002eim.3	-	4	703	c.595C>T	c.(595-597)Cgc>Tgc	p.R199C	CES1_uc002eil.3_Missense_Mutation_p.R200C|CES1_uc002ein.3_Missense_Mutation_p.R199C	NM_001025194	NP_001020365	P23141	EST1_HUMAN	Homo sapiens carboxylesterase 1 (CES1), transcript variant 2, mRNA.	199			R -> H (in dbSNP:rs2307243).		response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	TGGACCCAGCGCAGGGCAGCC	0.587000												
UBE4B	10277	broad.mit.edu	37	1	10155571	10155571	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:10155571G>A	uc021ogc.1	+	2	952	c.264G>A	c.(262-264)tcG>tcA	p.S88S	UBE4B_uc001aqs.4_Silent_p.S88S|UBE4B_uc001aqr.4_Silent_p.S88S|UBE4B_uc010oai.2_Non-coding_Transcript|UBE4B_uc010oaj.2_5'UTR	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	Homo sapiens ubiquitination factor E4B (UBE4B), transcript variant 1, mRNA.	88					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		TCAGCAGCTCGCCCTCTAATA	0.468000												
HMCN1	83872	broad.mit.edu	37	1	185985117	185985117	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:185985117C>T	uc001grq.1	+	31	5166	c.4937C>T	c.(4936-4938)gCc>gTc	p.A1646V		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	1646	Ig-like C2-type 14.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GGCAACTTGGCCACGCCTTTG	0.403000												
METTL4	64863	broad.mit.edu	37	18	2544238	2544238	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:2544238A>G	uc002klh.4	-	7	2009	c.1229T>C	c.(1228-1230)gTc>gCc	p.V410A	METTL4_uc010dkj.3_Intron	NM_022840	NP_073751	Q8N3J2	METL4_HUMAN	Homo sapiens methyltransferase like 4 (METTL4), mRNA.	410					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		methyltransferase activity|nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						GGGCACGCTGACAATTAATTT	0.323000												
GTF2IRD1	9569	broad.mit.edu	37	7	73944220	73944220	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:73944220G>A	uc003uaq.3	+	8	1640	c.1247G>A	c.(1246-1248)cGc>cAc	p.R416H	GTF2IRD1_uc010lbq.3_Missense_Mutation_p.R448H|GTF2IRD1_uc003uap.3_Missense_Mutation_p.R416H|GTF2IRD1_uc003uar.1_Missense_Mutation_p.R416H	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN	Homo sapiens GTF2I repeat domain containing 1 (GTF2IRD1), transcript variant 1, mRNA.	416						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	p.R416H(2)		NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CTGGAGGAGCGCCATAGTATC	0.607000												
ASCC3	10973	broad.mit.edu	37	6	101165958	101165958	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:101165958G>A	uc003pqk.3	-	11	2401	c.2072C>T	c.(2071-2073)gCa>gTa	p.A691V	ASCC3_uc011eai.1_Missense_Mutation_p.A593V|ASCC3_uc003pql.3_Missense_Mutation_p.A691V	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	Homo sapiens activating signal cointegrator 1 complex subunit 3 (ASCC3), transcript variant 1, mRNA.	691					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TACCTTATTTGCACATTTAAT	0.318000												
CNN1	1264	broad.mit.edu	37	19	11658702	11658702	+	Missense_Mutation	SNP	C	C	T	rs148076740		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:11658702C>T	uc002msc.1	+	4	645	c.481C>T	c.(481-483)Cgg>Tgg	p.R161W	CNN1_uc010xmb.1_Missense_Mutation_p.R111W|CNN1_uc010xmc.1_Missense_Mutation_p.R111W	NM_001299	NP_001290	P51911	CNN1_HUMAN	Homo sapiens calponin 1, basic, smooth muscle (CNN1), mRNA.	161					actomyosin structure organization|regulation of smooth muscle contraction	cytoskeleton	actin binding|calmodulin binding			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9						AAGAGAAGGGCGGAACATCAT	0.577000												
WRAP53	55135	broad.mit.edu	37	17	7604990	7604990	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:7604990G>A	uc010vuh.2	+	6	993	c.838G>A	c.(838-840)Gcc>Acc	p.A280T	WRAP53_uc010vui.2_Missense_Mutation_p.A280T|WRAP53_uc002gip.3_Missense_Mutation_p.A280T|WRAP53_uc002gir.3_Missense_Mutation_p.A280T|WRAP53_uc002giq.3_Non-coding_Transcript|WRAP53_uc010cnl.3_Missense_Mutation_p.A247T|WRAP53_uc010vuj.2_Missense_Mutation_p.A61T	NM_001143990	NP_060551	Q9BUR4	WAP53_HUMAN	Homo sapiens WD repeat containing, antisense to TP53 (WRAP53), transcript variant 2, mRNA.	280					positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	RNA binding|protein binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						GCTGACGGCAGCCCATTCGCT	0.617000												
LRRC15	131578	broad.mit.edu	37	3	194080553	194080553	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:194080553C>T	uc003ftt.3	-	2	1363	c.1238G>A	c.(1237-1239)gGc>gAc	p.G413D	LRRC15_uc003ftu.3_Missense_Mutation_p.G407D|LRRC15_uc021xiy.1_Missense_Mutation_p.G407D	NM_001135057	NP_570843	Q8TF66	LRC15_HUMAN	Homo sapiens leucine rich repeat containing 15 (LRRC15), transcript variant 1, mRNA.	407						integral to membrane				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		ATCGAAGATGCCGAGGGGCAA	0.572000												
SIK2	23235	broad.mit.edu	37	11	111582989	111582989	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:111582989C>T	uc001plt.3	+	8	1274	c.1156C>T	c.(1156-1158)Cga>Tga	p.R386*		NM_015191	NP_056006	Q9H0K1	SIK2_HUMAN	Homo sapiens salt-inducible kinase 2 (SIK2), mRNA.	386					intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						GAGGCTGCTGCGATCTGCCCT	0.532000												
FECH	2235	broad.mit.edu	37	18	55218072	55218072	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:55218072C>T	uc002lgq.4	-	10	1261	c.1144G>A	c.(1144-1146)Gcc>Acc	p.A382T	FECH_uc002lgp.4_Missense_Mutation_p.A388T|FECH_uc002lgr.4_Missense_Mutation_p.A240T	NM_000140	NP_000131	P22830	HEMH_HUMAN	Homo sapiens ferrochelatase (FECH), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	382					generation of precursor metabolites and energy|heme biosynthetic process|protoporphyrinogen IX metabolic process|response to light stimulus	mitochondrial inner membrane|mitochondrial matrix	2 iron, 2 sulfur cluster binding|ferrochelatase activity|ferrous iron binding|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	15		Colorectal(73;0.227)				ACCAAGTCGGCCAGGGCCTGG	0.582000												
MRPS30	10884	broad.mit.edu	37	5	44811197	44811197	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:44811197C>T	uc003joh.3	+	1	726	c.688C>T	c.(688-690)Cga>Tga	p.R230*	MRPS30_uc003joi.1_Non-coding_Transcript	NM_016640	NP_057724	Q9NP92	RT30_HUMAN	Homo sapiens mitochondrial ribosomal protein S30 (MRPS30), nuclear gene encoding mitochondrial protein, mRNA.	230					apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					TGATGACTTGCGATACCAGAT	0.383000												
IQGAP2	10788	broad.mit.edu	37	5	75967720	75967720	+	Missense_Mutation	SNP	G	G	A	rs138211969	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:75967720G>A	uc003kek.3	+	23	3202	c.2980G>A	c.(2980-2982)Gac>Aac	p.D994N	IQGAP2_uc010izv.2_Missense_Mutation_p.D547N|IQGAP2_uc011csv.2_Missense_Mutation_p.D490N|IQGAP2_uc003kel.3_Missense_Mutation_p.D490N|IQGAP2_uc010izw.1_5'Flank	NM_006633	NP_006624	Q13576	IQGA2_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 2 (IQGAP2), mRNA.	994	Ras-GAP.				small GTPase mediated signal transduction	actin cytoskeleton	GTPase inhibitor activity|Ras GTPase activator activity|actin binding|calmodulin binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		AGAGATCATCGACGACAAGTC	0.498000												
BCL2L10	10017	broad.mit.edu	37	15	52402115	52402115	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:52402115T>C	uc002abq.3	-	1	594	c.545A>G	c.(544-546)cAg>cGg	p.Q182R		NM_020396	NP_065129	Q9HD36	B2L10_HUMAN	Homo sapiens BCL2-like 10 (apoptosis facilitator) (BCL2L10), mRNA.	172					activation of caspase activity|anti-apoptosis|female gamete generation|spermatogenesis	cytosol|integral to membrane|membrane fraction|mitochondrion|nuclear membrane	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2				all cancers(107;0.0148)		CTGGACCAGCTGTTTTCTCCA	0.438000												
HECA	51696	broad.mit.edu	37	6	139495646	139495646	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:139495646C>T	uc003qin.3	+	2	1722	c.1437C>T	c.(1435-1437)taC>taT	p.Y479Y		NM_016217	NP_057301	Q9UBI9	HDC_HUMAN	Homo sapiens headcase homolog (Drosophila) (HECA), mRNA.	479					respiratory tube development					endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		TGTACACCTACGACATCCTGG	0.537000												
PHF2	5253	broad.mit.edu	37	9	96415473	96415473	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:96415473C>T	uc004aub.3	+	5	762	c.615C>T	c.(613-615)ttC>ttT	p.F205F	PHF2_uc011lug.1_Silent_p.F88F	NM_005392	NP_005383	O75151	PHF2_HUMAN	Homo sapiens PHD finger protein 2 (PHF2), mRNA.	205	JmjC.				liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 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	p.F205F(2)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		TGTCCAGCTTCGTGGAGCCAC	0.502000												
RFC1	5981	broad.mit.edu	37	4	39290444	39290444	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:39290444C>T	uc003gty.2	-	24	3524	c.3384G>A	c.(3382-3384)aaG>aaA	p.K1128K	RFC1_uc003gtx.2_Silent_p.K1127K	NM_001204747	NP_001191676	P35251	RFC1_HUMAN	Homo sapiens replication factor C (activator 1) 1, 145kDa (RFC1), transcript variant 2, mRNA.	1128					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						GTTTTGAAGGCTTTGAAGATT	0.328000												
SDCCAG3	10807	broad.mit.edu	37	9	139302298	139302298	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:139302298C>T	uc004chi.3	-	3	587	c.382G>A	c.(382-384)Gcc>Acc	p.A128T	SDCCAG3_uc004chj.3_Missense_Mutation_p.A105T|SDCCAG3_uc004chk.3_Missense_Mutation_p.A55T|PMPCA_uc011mdy.1_5'Flank|PMPCA_uc010nbk.2_5'Flank|PMPCA_uc011mdz.2_5'Flank|PMPCA_uc004chl.3_5'Flank|PMPCA_uc010nbl.3_5'Flank	NM_001039707	NP_001034796	Q96C92	SDCG3_HUMAN	Homo sapiens serologically defined colon cancer antigen 3 (SDCCAG3), transcript variant 1, mRNA.	128						cytoplasm				NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	16		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)		ATTCTGCTGGCCGGATCCTCT	0.493000												
RNMTL1	55178	broad.mit.edu	37	17	694821	694821	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:694821G>A	uc002frw.3	+	3	881	c.775G>A	c.(775-777)Gca>Aca	p.A259T		NM_018146	NP_060616	Q9HC36	RMTL1_HUMAN	Homo sapiens RNA methyltransferase like 1 (RNMTL1), mRNA.	259					RNA processing		RNA binding|RNA methyltransferase activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0219)		GGGTATGGGCGCACATTTCCG	0.522000												
CACNA2D3	55799	broad.mit.edu	37	3	55038847	55038847	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:55038847C>T	uc003dhf.3	+	31	2796	c.2748C>T	c.(2746-2748)ggC>ggT	p.G916G	CACNA2D3_uc003dhg.1_Silent_p.G822G|CACNA2D3_uc003dhh.1_Non-coding_Transcript	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	916						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		GCAGCGATGGCGCCCATGGCC	0.453000												
UNC5CL	222643	broad.mit.edu	37	6	41002811	41002811	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:41002811C>T	uc003opi.3	-	1	102	c.3G>A	c.(1-3)atG>atA	p.M1I	UNC5CL_uc010jxe.1_Missense_Mutation_p.M1I	NM_173561	NP_775832	Q8IV45	UN5CL_HUMAN	Homo sapiens unc-5 homolog C (C. elegans)-like (UNC5CL), mRNA.	1					signal transduction	cytoplasm|integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCTGGGGGCACATTCGCCTGG	0.602000												
ATP13A4	84239	broad.mit.edu	37	3	193171906	193171906	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:193171906C>T	uc003ftd.3	-	16	2119	c.2011G>A	c.(2011-2013)Gct>Act	p.A671T	ATP13A4_uc003fte.1_Missense_Mutation_p.A671T|ATP13A4_uc011bsr.1_Missense_Mutation_p.A142T|ATP13A4_uc010hzi.3_Non-coding_Transcript	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.	671					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.A671T(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		AAGGTAGTAGCGTGATGGTCA	0.438000												
ITIH3	3699	broad.mit.edu	37	3	52840399	52840399	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:52840399G>A	uc003dfv.2	+	17	2069	c.2033G>A	c.(2032-2034)cGc>cAc	p.R678H	ITIH3_uc011bek.1_Intron	NM_002217	NP_002208	Q06033	ITIH3_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 3 (ITIH3), mRNA.	678					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.R678H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		ACAGTGCTGCGCCTTATTCAG	0.612000												
GPR158	57512	broad.mit.edu	37	10	25888009	25888009	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:25888009C>T	uc001isj.3	+	10	3514	c.3454C>T	c.(3454-3456)Cgt>Tgt	p.R1152C	GPR158_uc001isk.3_Missense_Mutation_p.R527C	NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	1152						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R1152C(2)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GGAGAATGTGCGTGGCTCCTA	0.443000												
USP4	7375	broad.mit.edu	37	3	49322015	49322015	+	Silent	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:49322015G>T	uc003cwq.2	-	17	2353	c.2274C>A	c.(2272-2274)gcC>gcA	p.A758A	USP4_uc003cwp.2_Silent_p.A488A|USP4_uc003cwr.2_Silent_p.A711A	NM_003363	NP_003354	Q13107	UBP4_HUMAN	Homo sapiens ubiquitin specific peptidase 4 (proto-oncogene) (USP4), transcript variant 1, mRNA.	758					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		GCTTCTCGTAGGCCTATGGGA	0.502000												
RABEP1	9135	broad.mit.edu	37	17	5280477	5280477	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:5280477G>A	uc002gbm.4	+	13	2316	c.2092G>A	c.(2092-2094)Gta>Ata	p.V698I	RABEP1_uc010clc.1_Missense_Mutation_p.V691I|RABEP1_uc010cld.1_Missense_Mutation_p.V655I|RABEP1_uc010vsw.1_Missense_Mutation_p.V655I|RABEP1_uc002gbl.4_Missense_Mutation_p.V698I|NUP88_uc002gbn.3_Intron	NM_004703	NP_004694	Q15276	RABE1_HUMAN	Homo sapiens rabaptin, RAB GTPase binding effector protein 1 (RABEP1), transcript variant 1, mRNA.	698					apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	GTPase activator activity|growth factor activity|protein homodimerization activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						AGCAGACCACGTAGAAGAAAA	0.398000												
ZMYM2	7750	broad.mit.edu	37	13	20641083	20641083	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:20641083C>T	uc001umr.3	+	20	3523	c.3225C>T	c.(3223-3225)ggC>ggT	p.G1075G	ZMYM2_uc001ums.3_Silent_p.G1075G|ZMYM2_uc021rgy.1_Silent_p.G1075G|ZMYM2_uc001umt.3_Silent_p.G1075G|ZMYM2_uc001umv.3_Silent_p.G455G|ZMYM2_uc001umw.3_Silent_p.G528G	NM_003453	NP_932072	Q9UBW7	ZMYM2_HUMAN	Homo sapiens zinc finger, MYM-type 2 (ZMYM2), transcript variant 1, mRNA.	1075					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding	p.G1075G(1)|p.G1073G(1)		large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		ATACGTATGGCGTAAATGCAT	0.368000												
CMTM8	152189	broad.mit.edu	37	3	32409470	32409470	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:32409470C>T	uc003cex.3	+	2	722	c.428C>T	c.(427-429)gCg>gTg	p.A143V	CMTM8_uc010hfu.3_Missense_Mutation_p.A85V	NM_178868	NP_849199	Q8IZV2	CKLF8_HUMAN	Homo sapiens CKLF-like MARVEL transmembrane domain containing 8 (CMTM8), mRNA.	143	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			breast(1)|endometrium(1)|kidney(1)|lung(1)	4						AACAGCTGGGCGGCCTCATCG	0.547000												
PTCHD2	57540	broad.mit.edu	37	1	11562098	11562098	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:11562098G>A	uc001ash.4	+	1	1187	c.1049G>A	c.(1048-1050)gGc>gAc	p.G350D	PTCHD2_uc001asi.1_Missense_Mutation_p.G350D	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	350					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GAGAGGGGCGGCAAGATCTAC	0.632000												
WDR66	144406	broad.mit.edu	37	12	122396992	122396992	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:122396992G>A	uc009zxk.3	+	12	2284	c.2125G>A	c.(2125-2127)Gca>Aca	p.A709T	WDR66_uc021rfh.1_Missense_Mutation_p.A709T	NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN	Homo sapiens WD repeat domain 66 (WDR66), transcript variant 1, mRNA.	709							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		CCAGTATATGGCAACTGCTGT	0.403000												
AMZ1	155185	broad.mit.edu	37	7	2740354	2740354	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:2740354G>A	uc003smr.1	+	1	630	c.269G>A	c.(268-270)cGc>cAc	p.R90H	AMZ1_uc003sms.1_Missense_Mutation_p.R90H|AMZ1_uc011jwa.1_5'Flank	NM_133463	NP_597720	Q400G9	AMZ1_HUMAN	Homo sapiens archaelysin family metallopeptidase 1 (AMZ1), mRNA.	90							metallopeptidase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		CGGAAGCCCCGCCTGGCTCGG	0.647000												
ACTB	60	broad.mit.edu	37	7	5568123	5568123	+	Silent	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:5568123G>T	uc003sot.4	-	3	675	c.591C>A	c.(589-591)ggC>ggA	p.G197G	ACTB_uc003sor.4_Silent_p.G75G|ACTB_uc003soq.4_Silent_p.G75G	NM_001101	NP_001092	P60709	ACTB_HUMAN	Homo sapiens actin, beta (ACTB), mRNA.	197					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	MLL5-L complex|NuA4 histone acetyltransferase complex|cytoskeleton|cytosol|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		TGAAGCTGTAGCCGCGCTCGG	0.617000												
CNTNAP1	8506	broad.mit.edu	37	17	40845456	40845456	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:40845456G>A	uc002iay.3	+	17	3110	c.2894G>A	c.(2893-2895)cGg>cAg	p.R965Q	CNTNAP1_uc010wgs.2_Non-coding_Transcript	NM_003632	NP_003623	P78357	CNTP1_HUMAN	Homo sapiens contactin associated protein 1 (CNTNAP1), mRNA.	965	EGF-like 2.				axon guidance|cell adhesion	paranode region of axon	SH3 domain binding|SH3/SH2 adaptor activity|receptor activity|receptor binding			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		GCCCACCCTCGGCTCCCCTGT	0.607000												
TMPRSS6	164656	broad.mit.edu	37	22	37471264	37471264	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:37471264G>T	uc003aqt.1	-	10	1315	c.1253C>A	c.(1252-1254)aCg>aAg	p.T418K	TMPRSS6_uc003aqs.1_Missense_Mutation_p.T427K	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	Homo sapiens transmembrane protease, serine 6 (TMPRSS6), mRNA.	427	CUB 2.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						GATCCCGGCCGTGGCCACCAC	0.647000												
NELL2	4753	broad.mit.edu	37	12	44926433	44926433	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:44926433A>G	uc010skz.1	-	16	2010	c.1885T>C	c.(1885-1887)Tac>Cac	p.Y629H	NELL2_uc001rof.3_Missense_Mutation_p.Y578H|NELL2_uc001rog.2_Missense_Mutation_p.Y579H|NELL2_uc001roh.2_Missense_Mutation_p.Y579H|NELL2_uc009zkd.2_Intron|NELL2_uc010sla.1_Missense_Mutation_p.Y602H|NELL2_uc001roi.1_Missense_Mutation_p.Y579H|NELL2_uc010slb.1_Missense_Mutation_p.Y578H	NM_001145107	NP_006150	Q99435	NELL2_HUMAN	Homo sapiens NEL-like 2 (chicken) (NELL2), transcript variant 1, mRNA.	579	EGF-like 6; calcium-binding (Potential).				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		TCACAGTGGTACCATCCAGGC	0.413000												
POU3F2	5454	broad.mit.edu	37	6	99283841	99283841	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:99283841C>T	uc003ppe.3	+	0	1262	c.1092C>T	c.(1090-1092)agC>agT	p.S364S		NM_005604	NP_005595	P20265	PO3F2_HUMAN	Homo sapiens POU class 3 homeobox 2 (POU3F2), mRNA.	364					positive regulation of cell proliferation		identical protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(5)	10		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		TCGAGGTGAGCGTCAAGGGGG	0.632000												
SLC4A8	9498	broad.mit.edu	37	12	51856118	51856118	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:51856118G>A	uc001rys.1	+	9	1304	c.1126G>A	c.(1126-1128)Gca>Aca	p.A376T	SLC4A8_uc010sni.2_Missense_Mutation_p.A323T|SLC4A8_uc001rym.3_Missense_Mutation_p.A323T|SLC4A8_uc001ryn.3_Missense_Mutation_p.A323T|SLC4A8_uc001ryo.2_Missense_Mutation_p.A323T|SLC4A8_uc001ryp.1_3'UTR|SLC4A8_uc010snj.2_Missense_Mutation_p.A403T|SLC4A8_uc001ryq.4_Missense_Mutation_p.A376T|SLC4A8_uc001ryr.3_Missense_Mutation_p.A376T|SLC4A8_uc010snk.2_Missense_Mutation_p.A323T	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 8 (SLC4A8), transcript variant 1, mRNA.	376					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		AGCATATAAGGCAAAAGAGCG	0.443000												
CHD1	1105	broad.mit.edu	37	5	98240797	98240797	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:98240797G>A	uc003knf.3	-	1	207	c.59C>T	c.(58-60)tCg>tTg	p.S20L		NM_001270	NP_001261	O14646	CHD1_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 1 (CHD1), mRNA.	20	Ser-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	ATCATCATCCGACTGGCTATA	0.393000												
LAMA1	284217	broad.mit.edu	37	18	7046313	7046313	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:7046313G>A	uc002knm.3	-	5	916	c.822C>T	c.(820-822)ggC>ggT	p.G274G	LAMA1_uc010wzj.2_5'UTR	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	274	Laminin EGF-like 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TACTAGCATGGCCATAGCAGA	0.323000												
TMEM38A	79041	broad.mit.edu	37	19	16790841	16790841	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:16790841C>T	uc002nes.3	+	1	262	c.171C>T	c.(169-171)tgC>tgT	p.C57C		NM_024074	NP_076979	Q9H6F2	TM38A_HUMAN	Homo sapiens transmembrane protein 38A (TMEM38A), mRNA.	57						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						CCTGGCTGTGCGCCATGCTGC	0.612000												
ABCC5	10057	broad.mit.edu	37	3	183689508	183689508	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:183689508C>T	uc003fmg.3	-	10	1769	c.1604G>A	c.(1603-1605)cGc>cAc	p.R535H	ABCC5_uc011bqt.2_Missense_Mutation_p.R63H|ABCC5_uc010hxl.3_Missense_Mutation_p.R535H	NM_005688	NP_005679	O15440	MRP5_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 5 (ABCC5), transcript variant 1, mRNA.	535						integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	p.R535L(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			ATGCTCAGTGCGCTGCAGCTG	0.582000												
EPB41	2035	broad.mit.edu	37	1	29365769	29365769	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:29365769G>C	uc001brm.2	+	10	1594	c.1467G>C	c.(1465-1467)ttG>ttC	p.L489F	EPB41_uc001brg.2_Missense_Mutation_p.L280F|EPB41_uc001brh.2_Missense_Mutation_p.L280F|EPB41_uc001brj.2_Missense_Mutation_p.L280F|EPB41_uc001bri.2_Missense_Mutation_p.L454F|EPB41_uc009vtk.2_Missense_Mutation_p.L454F|EPB41_uc001brk.3_Missense_Mutation_p.L489F|EPB41_uc001brl.2_Missense_Mutation_p.L489F|EPB41_uc021okg.1_Missense_Mutation_p.L489F|EPB41_uc009vtm.2_Missense_Mutation_p.L122F|EPB41_uc009vtl.2_Missense_Mutation_p.L280F	NM_001166005	NP_001159477	P11171	41_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked) (EPB41), transcript variant 1, mRNA.	489	FERM.				blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	Golgi apparatus|extrinsic to membrane|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		CCCCCAGATTGACATCTACAG	0.353000												
TXLNB	167838	broad.mit.edu	37	6	139564112	139564112	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:139564112C>T	uc021zfy.1	-	9	1771	c.1606G>A	c.(1606-1608)Gcc>Acc	p.A536T		NM_153235	NP_694967	Q8N3L3	TXLNB_HUMAN	Homo sapiens taxilin beta (TXLNB), mRNA.	536						cytoplasm		p.A536T(2)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		TTGAGAGCGGCGTCAGCACTC	0.567000												
RBAK	57786	broad.mit.edu	37	7	5097398	5097398	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:5097398C>T	uc021zzc.1	+	3	408	c.226C>T	c.(226-228)Caa>Taa	p.Q76*	RBAK_uc003snr.3_Nonsense_Mutation_p.Q76*|RBAK_uc010kss.1_Nonsense_Mutation_p.Q76*|RBAK_uc003sns.1_Nonsense_Mutation_p.Q76*	NM_001204513	NP_001191442	Q9NYW8	RBAK_HUMAN	Homo sapiens RBAK-LOC389458 readthrough (RBAK-LOC389458), mRNA.	76	KRAB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		ATTTCCATGTCAACATAGTCC	0.418000												
ZNF236	7776	broad.mit.edu	37	18	74593430	74593430	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:74593430A>G	uc002lmi.3	+	8	1571	c.1373A>G	c.(1372-1374)gAa>gGa	p.E458G	ZNF236_uc002lmj.3_Non-coding_Transcript|ZNF236_uc002lmk.1_Missense_Mutation_p.E458G	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	Homo sapiens zinc finger protein 236 (ZNF236), mRNA.	458					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GATAAAAAAGAAAAAAAAATG	0.383000												
LCT	3938	broad.mit.edu	37	2	136567187	136567187	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:136567187G>A	uc002tuu.1	-	7	2741	c.2730C>T	c.(2728-2730)ggC>ggT	p.G910G		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	910	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	p.G910V(1)|p.W909L(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		AAGAGGACACGCCCCACAGAA	0.527000												
MPP3	4356	broad.mit.edu	37	17	41891392	41891392	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:41891392G>A	uc002ieh.3	-	13	1578	c.1317C>T	c.(1315-1317)ggC>ggT	p.G439G	MPP3_uc002iei.4_Silent_p.G414G|MPP3_uc002iej.3_Non-coding_Transcript	NM_001932	NP_001923	Q13368	MPP3_HUMAN	Homo sapiens membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3) (MPP3), transcript variant 1, mRNA.	414	Guanylate kinase-like.				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		GAACAGCGACGCCAAAGTGCT	0.547000												
LRRC27	80313	broad.mit.edu	37	10	134165170	134165170	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:134165170C>T	uc010quw.1	+	6	1181	c.986C>T	c.(985-987)gCg>gTg	p.A329V	LRRC27_uc001llf.2_Nonsense_Mutation_p.R361*|LRRC27_uc010quv.1_Missense_Mutation_p.A329V|LRRC27_uc001llg.2_Non-coding_Transcript|LRRC27_uc001lli.2_Missense_Mutation_p.A329V|LRRC27_uc001llj.2_Missense_Mutation_p.A267V|LRRC27_uc001llk.4_Missense_Mutation_p.A202V	NM_030626	NP_085129	Q9C0I9	LRC27_HUMAN	Homo sapiens leucine rich repeat containing 27 (LRRC27), transcript variant 1, mRNA.	329										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		TACCAAATGGCGATCCGAGCA	0.522000												
IRS1	3667	broad.mit.edu	37	2	227662528	227662528	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:227662528G>A	uc021vxn.1	-	0	927	c.927C>T	c.(925-927)acC>acT	p.T309T	IRS1_uc002voh.4_Silent_p.T309T	NM_005544	NP_005535	P35568	IRS1_HUMAN	Homo sapiens insulin receptor substrate 1 (IRS1), mRNA.	309	Ser-rich.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	SH2 domain binding|insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GGGAGGTGGCGGTGATGCTCT	0.701000											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CCDC76	54482	broad.mit.edu	37	1	100606013	100606013	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:100606013C>T	uc001dsv.3	+	5	463	c.444C>T	c.(442-444)caC>caT	p.H148H	CCDC76_uc010ouf.2_Non-coding_Transcript|CCDC76_uc009wea.3_Silent_p.H148H	NM_019083	NP_061956	Q9NUP7	TRM13_HUMAN	Homo sapiens coiled-coil domain containing 76 (CCDC76), mRNA.	148					tRNA processing		metal ion binding|methyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)	21		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0814)|all cancers(265;0.133)|COAD - Colon adenocarcinoma(174;0.146)|Lung(183;0.194)		CAGCATTACACGATGCACTTA	0.393000												
MLL	4297	broad.mit.edu	37	11	118369241	118369241	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:118369241G>A	uc001pta.3	+	21	5973	c.5950G>A	c.(5950-5952)Gaa>Aaa	p.E1984K	MLL_uc001ptb.3_Missense_Mutation_p.E1987K	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	1984					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		GATCAAAGGCGAAGTGAGAGA	0.383000			"""T, O"""	"""MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"""	"""AML, ALL"""							
SIGLEC1	6614	broad.mit.edu	37	20	3683963	3683963	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:3683963G>A	uc002wja.3	-	4	1109	c.1109C>T	c.(1108-1110)gCc>gTc	p.A370V	SIGLEC1_uc002wiz.4_Missense_Mutation_p.A370V|SIGLEC1_uc002wjc.3_Missense_Mutation_p.A281V	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	370	Ig-like C2-type 3.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						ATGGGAGTGGGCATCCTCCAG	0.582000												
LIPJ	142910	broad.mit.edu	37	10	90354523	90354523	+	Silent	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:90354523T>C	uc001kff.3	+	5	743	c.429T>C	c.(427-429)ggT>ggC	p.G143G		NM_001010939	NP_001010939	Q5W064	LIPJ_HUMAN	Homo sapiens lipase, family member J (LIPJ), mRNA.	143					lipid catabolic process		hydrolase activity			large_intestine(4)|lung(4)|ovary(1)	9		all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222)		Colorectal(12;1.02e-05)|COAD - Colon adenocarcinoma(12;1.54e-05)		ATTCACAGGGTACTACTATTG	0.348000												
SEP15	9403	broad.mit.edu	37	1	87333766	87333766	+	Silent	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:87333766T>C	uc021oph.1	-	3	649	c.336A>G	c.(334-336)aaA>aaG	p.K112K	SEP15_uc021opi.1_Intron	NM_004261		O60613	SEP15_HUMAN	Homo sapiens 15 kDa selenoprotein (SEP15), transcript variant 1, mRNA.	109					'de novo' posttranslational protein folding	endoplasmic reticulum lumen	selenium binding						Lung NSC(277;0.153)		all cancers(265;0.00744)|Epithelial(280;0.0333)		ACAGTTTGGGTTTATCACTCC	0.289000												
OR10J1	26476	broad.mit.edu	37	1	159409955	159409955	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:159409955C>T	uc010piv.2	+	0	444	c.407C>T	c.(406-408)gCc>gTc	p.A136V	BC038194_uc001fts.4_Intron	NM_012351	NP_036483	P30954	O10J1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 1 (OR10J1), mRNA.	136					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					CGCTATGTGGCCATCTGCAAC	0.483000												
ZNF555	148254	broad.mit.edu	37	19	2852711	2852711	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:2852711T>A	uc002lwo.3	+	3	786	c.648T>A	c.(646-648)aaT>aaA	p.N216K	ZNF555_uc002lwn.4_Missense_Mutation_p.N215K	NM_152791	NP_690004	Q8NEP9	ZN555_HUMAN	Homo sapiens zinc finger protein 555 (ZNF555), transcript variant 1, mRNA.	216					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				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)		CCTCCCTCAATCGGCATGTAA	0.433000												
KIAA1217	56243	broad.mit.edu	37	10	24669946	24669946	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:24669946C>T	uc001iru.4	+	2	906	c.503C>T	c.(502-504)gCg>gTg	p.A168V	KIAA1217_uc001irs.3_Missense_Mutation_p.A88V|KIAA1217_uc001irt.4_Missense_Mutation_p.A168V|KIAA1217_uc010qcy.2_Missense_Mutation_p.A168V|KIAA1217_uc010qcz.2_Missense_Mutation_p.A168V|KIAA1217_uc001irv.1_Missense_Mutation_p.A18V|KIAA1217_uc010qda.1_Non-coding_Transcript	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	168					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CGGACTCGTGCGAGCCTTCCT	0.522000												
VPS52	6293	broad.mit.edu	37	6	33236902	33236902	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:33236902G>A	uc003odm.1	-	5	647	c.437C>T	c.(436-438)aCa>aTa	p.T146I	VPS52_uc003odn.1_Missense_Mutation_p.T21I|VPS52_uc003odo.1_Missense_Mutation_p.T71I|VPS52_uc011dqy.1_Missense_Mutation_p.T21I|VPS52_uc011dqz.1_Missense_Mutation_p.T21I|RPS18_uc003odp.1_5'Flank|RPS18_uc010jum.1_5'Flank	NM_022553	NP_072047	Q8N1B4	VPS52_HUMAN	Homo sapiens vacuolar protein sorting 52 homolog (S. cerevisiae) (VPS52), mRNA.	146					protein transport	Golgi apparatus|endosome membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						TTCCTGCAGTGTCCGGATCTC	0.542000												
NLRC5	84166	broad.mit.edu	37	16	57060066	57060066	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:57060066C>T	uc021tiu.1	+	4	1338	c.1211C>T	c.(1210-1212)gCg>gTg	p.A404V	NLRC5_uc021tit.1_Missense_Mutation_p.A404V|NLRC5_uc010ccq.1_Non-coding_Transcript|NLRC5_uc021tiv.1_Missense_Mutation_p.A209V|NLRC5_uc021tiw.1_Missense_Mutation_p.A209V|NLRC5_uc010ccr.1_Non-coding_Transcript	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA.	404	NACHT.				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|RNA polymerase II core promoter sequence-specific DNA binding|protein binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				AGCCTGTGTGCGGTGCCCGCA	0.617000												
PARN	5073	broad.mit.edu	37	16	14687198	14687198	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:14687198A>G	uc010uzd.2	-	12	1024	c.878T>C	c.(877-879)gTc>gCc	p.V293A	PARN_uc010uzc.2_Missense_Mutation_p.V232A|PARN_uc010uze.2_Missense_Mutation_p.V247A|PARN_uc010uzf.2_Missense_Mutation_p.V118A	NM_002582	NP_001127949	O95453	PARN_HUMAN	Homo sapiens poly(A)-specific ribonuclease (PARN), transcript variant 1, mRNA.	293					RNA modification|female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleolus	mRNA 3'-UTR binding|metal ion binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						TGTGTGCATGACGTCCAAGAG	0.373000												
ADRA1A	148	broad.mit.edu	37	8	26722276	26722276	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:26722276C>T	uc003xfc.1	-	0	647	c.211G>A	c.(211-213)Gcc>Acc	p.A71T	ADRA1A_uc010lul.1_Missense_Mutation_p.A71T|ADRA1A_uc003xfd.1_Non-coding_Transcript|ADRA1A_uc003xfe.1_Missense_Mutation_p.A71T|ADRA1A_uc010lum.1_Missense_Mutation_p.A71T|ADRA1A_uc003xff.1_Non-coding_Transcript|ADRA1A_uc003xfg.1_Missense_Mutation_p.A71T|ADRA1A_uc003xfh.1_Missense_Mutation_p.A71T|ADRA1A_uc022atd.1_Missense_Mutation_p.A71T	NM_033303	NP_150646	P35348	ADA1A_HUMAN	Homo sapiens adrenergic, alpha-1A-, receptor (ADRA1A), transcript variant 2, mRNA.	71					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of Rho protein signal transduction|negative regulation of cell proliferation|negative regulation of synaptic transmission, GABAergic|positive regulation of ERK1 and ERK2 cascade|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	AGGAGGTCGGCCACCGCCAGG	0.607000												
TRPM8	79054	broad.mit.edu	37	2	234851360	234851360	+	Silent	SNP	C	C	A	rs35201441		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:234851360C>A	uc002vvh.3	+	5	707	c.667C>A	c.(667-669)Cgg>Agg	p.R223R	TRPM8_uc010fyj.3_5'UTR|TRPM8_uc002vvi.3_Silent_p.R173R|TRPM8_uc002vvj.3_Silent_p.R146R	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	223						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	GGTCTCCAACCGGGACACCCT	0.557000												
TNXB	7148	broad.mit.edu	37	6	32052264	32052264	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:32052264C>T	uc003nzl.2	-	7	3573	c.3371G>A	c.(3370-3372)cGc>cAc	p.R1124H		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1211	Fibronectin type-III 3.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TTTGTACTTGCGGCCAGGATC	0.587000												
EME1	146956	broad.mit.edu	37	17	48452901	48452901	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:48452901G>A	uc002iqs.2	+	1	414	c.332G>A	c.(331-333)aGc>aAc	p.S111N	MRPL27_uc002iqq.3_5'Flank|MRPL27_uc002iqr.2_5'Flank|EME1_uc010dbp.2_Missense_Mutation_p.S111N	NM_152463	NP_689676	Q96AY2	EME1_HUMAN	Homo sapiens essential meiotic endonuclease 1 homolog 1 (S. pombe) (EME1), transcript variant 2, mRNA.	111					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)			AAGCAACTGAGCCCTGAGGAC	0.433000								Direct reversal of damage;Homologous recombination				
MYO15A	51168	broad.mit.edu	37	17	18054496	18054496	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:18054496G>T	uc021trm.1	+	37	7765	c.7546G>T	c.(7546-7548)Gcc>Tcc	p.A2516S	MYO15A_uc021trl.1_Missense_Mutation_p.A2514S|MYO15A_uc010vxi.2_5'Flank|MYO15A_uc010vxj.1_5'Flank|MYO15A_uc010vxk.1_5'Flank	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	2516	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin 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)					GCTCCTGCGTGCCACTCCAAA	0.652000												
FAM129A	116496	broad.mit.edu	37	1	184764913	184764913	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:184764913T>C	uc001gra.3	-	13	2179	c.1985A>G	c.(1984-1986)gAc>gGc	p.D662G	FAM129A_uc001grb.1_Intron	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA.	662					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						CACCACGGGGTCATCCACTCT	0.572000												
RCOR3	55758	broad.mit.edu	37	1	211451507	211451507	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:211451507A>G	uc010psw.2	+	5	760	c.565A>G	c.(565-567)Aaa>Gaa	p.K189E	RCOR3_uc010psv.1_Non-coding_Transcript|RCOR3_uc001hie.3_Missense_Mutation_p.K189E|RCOR3_uc001hif.3_Missense_Mutation_p.K189E|RCOR3_uc001hig.3_Missense_Mutation_p.K131E	NM_001136223	NP_060724	Q9P2K3	RCOR3_HUMAN	Homo sapiens REST corepressor 3 (RCOR3), transcript variant 1, mRNA.	131					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.T133fs*4(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		CTATTCTTGGAAAAAAACTCG	0.338000												
HNRPDL	9987	broad.mit.edu	37	4	83350541	83350541	+	Silent	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:83350541A>G	uc003hmr.3	-	0	838	c.303T>C	c.(301-303)gcT>gcC	p.A101A	ENOPH1_uc003hmv.3_5'Flank|ENOPH1_uc003hmx.3_5'Flank|HNRPDL_uc003hmq.3_Non-coding_Transcript|HNRPDL_uc003hmt.3_Silent_p.A101A	NM_031372	NP_112740	O14979	HNRDL_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein D-like (HNRPDL), transcript variant 2, mRNA.	101					RNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|heterogeneous nuclear ribonucleoprotein complex	double-stranded DNA binding|nucleotide binding|poly(A) RNA binding|protein binding|single-stranded DNA binding			breast(2)|endometrium(2)|kidney(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Hepatocellular(203;0.114)				TCGCGGCAGCAGCGGCGGCGG	0.637000												
NFS1	9054	broad.mit.edu	37	20	34262504	34262504	+	Silent	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:34262504C>A	uc002xdw.2	-	8	1061	c.984G>T	c.(982-984)cgG>cgT	p.R328R	CPNE1_uc002xdn.1_5'Flank|CPNE1_uc002xdo.1_5'Flank|CPNE1_uc002xdp.1_Non-coding_Transcript|NFS1_uc002xdt.2_Silent_p.R268R|NFS1_uc010zvl.2_Silent_p.R277R|NFS1_uc010zvk.2_Silent_p.R126R	NM_021100	NP_066923	Q9Y697	NFS1_HUMAN	Homo sapiens NFS1 nitrogen fixation 1 homolog (S. cerevisiae) (NFS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	328					Mo-molybdopterin cofactor biosynthetic process|cysteine metabolic process|iron incorporation into metallo-sulfur cluster|protein complex assembly|water-soluble vitamin metabolic process	cytosol|mitochondrial matrix|nucleus	cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	18	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.0886)		L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	TCTGTATCAGCCGCTCTGACA	0.448000												
HERC1	8925	broad.mit.edu	37	15	63943555	63943555	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:63943555C>T	uc002amp.3	-	52	10591	c.10443G>A	c.(10441-10443)ctG>ctA	p.L3481L		NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	3481					protein modification process|transport	Golgi apparatus|cytosol|membrane	ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TGGGTGATCCCAGGCTTTCCT	0.408000												
NKRF	55922	broad.mit.edu	37	X	118723342	118723342	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:118723342G>A	uc022cdk.1	-	3	2313	c.2091C>T	c.(2089-2091)taC>taT	p.Y697Y	NKRF_uc004erq.3_Silent_p.Y682Y|NKRF_uc004err.3_Silent_p.Y682Y	NM_001173487	NP_060014	O15226	NKRF_HUMAN	Homo sapiens NFKB repressing factor (NKRF), transcript variant 1, mRNA.	682					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						TAACAAGCTCGTAATGGCCCA	0.418000												
TRPC7	57113	broad.mit.edu	37	5	135551934	135551934	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:135551934G>A	uc003lbn.2	-	10	2595	c.2373C>T	c.(2371-2373)taC>taT	p.Y791Y	TRPC7_uc010jef.2_Silent_p.Y727Y|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_Silent_p.Y342Y|TRPC7_uc010jeh.2_Silent_p.Y730Y|TRPC7_uc010jei.2_Silent_p.Y675Y	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	791					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTTTCAGGACGTATCTTTTTA	0.473000												
SNX18	112574	broad.mit.edu	37	5	53815142	53815142	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:53815142C>T	uc003jpj.4	+	0	1550	c.1360C>T	c.(1360-1362)Cgc>Tgc	p.R454C	SNX18_uc011cqg.2_Missense_Mutation_p.R454C|SNX18_uc003jpi.4_Missense_Mutation_p.R454C	NM_052870	NP_443102	Q96RF0	SNX18_HUMAN	Homo sapiens sorting nexin 18 (SNX18), transcript variant 2, mRNA.	454	BAR.				cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding			endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				CGAGTTCGCGCGCAAGCAGGT	0.607000												
TRA2B	6434	broad.mit.edu	37	3	185643269	185643269	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:185643269G>A	uc003fpv.3	-	2	592	c.316C>T	c.(316-318)Cgt>Tgt	p.R106C	TRA2B_uc003fpt.3_5'Flank|TRA2B_uc003fpu.3_Non-coding_Transcript|TRA2B_uc010hym.3_Missense_Mutation_p.R6C	NM_004593	NP_001230808	P62995	TRA2B_HUMAN	Homo sapiens transformer 2 beta homolog (Drosophila) (TRA2B), transcript variant 1, mRNA.	106	Arg/Ser-rich (RS1 domain).				nuclear mRNA splicing, via spliceosome	nucleus	RNA binding|nucleotide binding|protein binding			breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						CCAACATGACGCCTGCGAGTA	0.463000												
KLHL17	339451	broad.mit.edu	37	1	897043	897043	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:897043G>A	uc001aca.2	+	2	509	c.402G>A	c.(400-402)acG>acA	p.T134T	NOC2L_uc001abz.4_5'Flank|NOC2L_uc009vjq.3_5'Flank|NOC2L_uc009vjr.2_5'Flank|KLHL17_uc001acb.1_Silent_p.T10T|KLHL17_uc010nya.1_Silent_p.T10T|KLHL17_uc001acc.2_5'Flank|KLHL17_uc010nyb.1_5'Flank	NM_198317	NP_938073	Q6TDP4	KLH17_HUMAN	Homo sapiens kelch-like 17 (Drosophila) (KLHL17), mRNA.	134	BTB.				actin cytoskeleton organization	actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane	protein complex scaffold			central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CCCACGTGACGCTGCACGACA	0.667000												
TERF2	7014	broad.mit.edu	37	16	69390889	69390889	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:69390889G>A	uc002exd.3	-	9	1541	c.1415C>T	c.(1414-1416)gCc>gTc	p.A472V		NM_005652	NP_005643	Q15554	TERF2_HUMAN	Homo sapiens telomeric repeat binding factor 2 (TERF2), mRNA.	472	HTH myb-type.				age-dependent telomere shortening|cell cycle|cellular senescence|negative regulation of telomere maintenance via semi-conservative replication|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of transcription, DNA-dependent|telomeric loop formation	Golgi apparatus|nuclear telomere cap complex|nucleoplasm	double-stranded telomeric DNA binding|protein C-terminus binding|protein homodimerization activity			NS(2)|breast(1)|large_intestine(3)|lung(1)	7		Ovarian(137;0.101)				TTTAGAAATGGCAGCCCAGTT	0.433000												
DOCK2	1794	broad.mit.edu	37	5	169230209	169230209	+	Splice_Site	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:169230209C>T	uc003maf.3	+	26	2783	c.2703_splice	c.e26+1	p.A901_splice	DOCK2_uc011der.2_Splice_Site|DOCK2_uc010jjm.3_Splice_Site_p.A393_splice	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	901					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	GTP binding|GTPase binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding|electron carrier activity|heme 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)			TACCAGGATGCGGTGAGTCCT	0.468000												
TNC	3371	broad.mit.edu	37	9	117804613	117804613	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:117804613G>A	uc004bjj.4	-	17	5545	c.5133C>T	c.(5131-5133)ggC>ggT	p.G1711G	TNC_uc010mvf.3_Silent_p.G1438G|TNC_uc022bmj.1_Silent_p.G1348G	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	1711	Fibronectin type-III 13.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CCTTTGGGGAGCCCATGGCTG	0.463000												
SNX15	29907	broad.mit.edu	37	11	64802341	64802341	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:64802341C>T	uc001oci.4	+	6	933	c.279C>T	c.(277-279)atC>atT	p.I93I	SNX15_uc001ock.3_Silent_p.I93I	NM_013306	NP_037438	Q9NRS6	SNX15_HUMAN	Homo sapiens sorting nexin 15 (SNX15), transcript variant A, mRNA.	93	PX.				cell communication|intracellular protein transport	cytoplasmic vesicle membrane|cytosol	phosphatidylinositol binding|protein transporter activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						CCTCAGTGATCGAGGAGCGGC	0.617000												
EPHB2	2048	broad.mit.edu	37	1	23191488	23191488	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:23191488C>T	uc009vqj.1	+	4	1231	c.1086C>T	c.(1084-1086)tgC>tgT	p.C362C	EPHB2_uc001bge.3_Silent_p.C362C|EPHB2_uc001bgf.3_Silent_p.C362C|EPHB2_uc010odu.2_Silent_p.C362C|MIR4253_uc021oic.1_5'Flank	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	362	Fibronectin type-III 1.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		ACATCATCTGCAAGAGCTGTG	0.617000												
C12orf51	283450	broad.mit.edu	37	12	112721041	112721041	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:112721041G>A	uc021reb.1	-	7	1365	c.969C>T	c.(967-969)ggC>ggT	p.G323G		NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						TGGCAGATTCGCCCTCTTTTC	0.428000												
XAB2	56949	broad.mit.edu	37	19	7687312	7687312	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:7687312C>T	uc002mgx.3	-	11	1548	c.1522G>A	c.(1522-1524)Gac>Aac	p.D508N		NM_020196	NP_064581	Q9HCS7	SYF1_HUMAN	Homo sapiens XPA binding protein 2 (XAB2), mRNA.	508					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						AGGATGCGGTCGTACACGGCC	0.607000								Direct reversal of damage;Nucleotide excision repair (NER)				
TBC1D13	54662	broad.mit.edu	37	9	131568288	131568288	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:131568288G>A	uc010myj.3	+	9	1192	c.1069G>A	c.(1069-1071)Gcc>Acc	p.A357T	TBC1D13_uc010myk.3_Missense_Mutation_p.A232T|TBC1D13_uc010myl.3_Missense_Mutation_p.A176T	NM_018201	NP_060671	Q9NVG8	TBC13_HUMAN	Homo sapiens TBC1 domain family, member 13 (TBC1D13), mRNA.	357						intracellular	Rab GTPase activator activity	p.C356C(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	6						CGTCTGCTGCGCCATGCTCAT	0.622000												
EXOSC1	51013	broad.mit.edu	37	10	99200984	99200984	+	Silent	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:99200984T>C	uc001kni.3	-	3	281	c.255A>G	c.(253-255)gtA>gtG	p.V85V	EXOSC1_uc009xvp.1_Non-coding_Transcript	NM_016046	NP_057130	Q9Y3B2	EXOS1_HUMAN	Homo sapiens exosome component 1 (EXOSC1), mRNA.	85	S1 motif.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	RNA binding|protein binding			breast(1)|endometrium(1)|lung(5)	7		Renal(717;0.000147)|Colorectal(252;0.00205)|Ovarian(717;0.00965)		all cancers(201;8.29e-42)|Epithelial(162;5.7e-33)|BRCA - Breast invasive adenocarcinoma(275;0.000315)|Kidney(138;0.000832)|KIRC - Kidney renal clear cell carcinoma(50;0.00269)|STAD - Stomach adenocarcinoma(243;0.202)		ACAGGATGTGTACTTTGGCAA	0.428000												
ANKRD17	26057	broad.mit.edu	37	4	73963907	73963907	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:73963907C>A	uc003hgp.3	-	25	5021	c.4904G>T	c.(4903-4905)aGt>aTt	p.S1635I	ANKRD17_uc003hgo.3_Missense_Mutation_p.S1522I|ANKRD17_uc003hgq.3_Missense_Mutation_p.S1384I|ANKRD17_uc003hgr.3_Missense_Mutation_p.S1634I	NM_032217	NP_115593	O75179	ANR17_HUMAN	Homo sapiens ankyrin repeat domain 17 (ANKRD17), transcript variant 1, mRNA.	1635	Ser-rich.				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATGATTGTCACTCTTACGACT	0.463000												
KDELR1	10945	broad.mit.edu	37	19	48887702	48887702	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:48887702G>A	uc002pjb.1	-	3	584	c.389C>T	c.(388-390)gCc>gTc	p.A130V	KDELR1_uc002pja.1_Missense_Mutation_p.A68V	NM_006801	NP_006792	P24390	ERD21_HUMAN	Homo sapiens KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1 (KDELR1), mRNA.	130					intracellular protein transport|protein retention in ER lumen|vesicle-mediated transport	ER-Golgi intermediate compartment|endoplasmic reticulum membrane|integral to membrane|membrane fraction	KDEL sequence binding|protein binding|receptor activity			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|pancreas(1)|urinary_tract(1)	11		all_epithelial(76;2.48e-06)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Prostate(7;0.122)|Breast(70;0.203)		all cancers(93;0.000114)|OV - Ovarian serous cystadenocarcinoma(262;0.000136)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.0145)		CGGCAAGATGGCCACTGACTC	0.597000												
RASD2	23551	broad.mit.edu	37	22	35947713	35947713	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:35947713C>T	uc003anx.3	+	2	640	c.435C>T	c.(433-435)ggC>ggT	p.G145G	RASD2_uc003any.3_Silent_p.G145G	NM_014310	NP_055125	Q96D21	RHES_HUMAN	Homo sapiens RASD family, member 2 (RASD2), mRNA.	145					locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity			endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						ACGACCACGGCGAGCTGTGCC	0.617000												
NCOR2	9612	broad.mit.edu	37	12	124824566	124824566	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:124824566C>T	uc021rga.1	-	36	5811	c.5694G>A	c.(5692-5694)acG>acA	p.T1898T	NCOR2_uc021rgb.1_Silent_p.T1882T|NCOR2_uc010tbb.2_Silent_p.T1891T|NCOR2_uc010tbc.2_Silent_p.T1881T|NCOR2_uc021rgc.1_Silent_p.T1881T|NCOR2_uc010tba.2_Silent_p.T1899T|NCOR2_uc010tax.2_Silent_p.T12T	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	1902					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGACCGTGGGCGTGCTGGGCT	0.637000												
TPO	7173	broad.mit.edu	37	2	1497645	1497645	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:1497645G>A	uc002qwr.3	+	10	1926	c.1840G>A	c.(1840-1842)Gcc>Acc	p.A614T	TPO_uc010ewj.3_Non-coding_Transcript|TPO_uc002qww.3_Missense_Mutation_p.A614T|TPO_uc002qwx.3_Missense_Mutation_p.A557T|TPO_uc002qwu.3_Missense_Mutation_p.A557T|TPO_uc010yio.2_Missense_Mutation_p.A441T|TPO_uc010yip.2_Missense_Mutation_p.A614T|TPO_uc002qwy.1_5'UTR|TPO_uc002qwz.3_Non-coding_Transcript	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	614					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CACAGCCATCGCCAGCAGGAG	0.602000												
PUS7L	83448	broad.mit.edu	37	12	44130389	44130389	+	Missense_Mutation	SNP	C	C	T	rs143825055		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:44130389C>T	uc001rns.4	-	6	1600	c.1520G>A	c.(1519-1521)cGc>cAc	p.R507H	PUS7L_uc001rnq.4_Missense_Mutation_p.R507H|PUS7L_uc001rnr.4_Missense_Mutation_p.R507H|PUS7L_uc009zkb.3_Missense_Mutation_p.R194H	NM_031292	NP_112582	Q9H0K6	PUS7L_HUMAN	Homo sapiens pseudouridylate synthase 7 homolog (S. cerevisiae)-like (PUS7L), transcript variant 3, mRNA.	507	TRUD.				pseudouridine synthesis|tRNA processing		RNA binding|pseudouridine synthase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		CATGCCAAAGCGGTGCAATGC	0.443000												
MC4R	4160	broad.mit.edu	37	18	58038852	58038852	+	Missense_Mutation	SNP	G	G	A	rs13447335		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:58038852G>A	uc002lie.1	-	0	1150	c.731C>T	c.(730-732)gCg>gTg	p.A244V		NM_005912	NP_005903	P32245	MC4R_HUMAN	Homo sapiens melanocortin 4 receptor (MC4R), mRNA.	244					G-protein signaling, coupled to cAMP nucleotide second messenger|feeding behavior|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				CAAGGTAATCGCTCCCTTCAT	0.498000												
DST	667	broad.mit.edu	37	6	56464943	56464943	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:56464943C>T	uc003pcy.4	-	25	3857	c.3749G>A	c.(3748-3750)cGc>cAc	p.R1250H	DST_uc010kaa.1_5'Flank	NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	3662					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ACCAATTAGGCGGTTTTCAGT	0.403000												
ELOVL4	6785	broad.mit.edu	37	6	80635973	80635973	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:80635973G>A	uc003pja.4	-	1	545	c.226C>T	c.(226-228)Cgt>Tgt	p.R76C	ELOVL4_uc011dyt.2_Intron	NM_022726	NP_073563	Q9GZR5	ELOV4_HUMAN	Homo sapiens ELOVL fatty acid elongase 4 (ELOVL4), mRNA.	76					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	p.M75L(1)		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)	AGCACTAGACGCATCTGAAAA	0.388000												
FGF9	2254	broad.mit.edu	37	13	22246290	22246290	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:22246290G>A	uc001uog.2	+	0	1076	c.239G>A	c.(238-240)gGt>gAt	p.G80D		NM_002010	NP_002001	P31371	FGF9_HUMAN	Homo sapiens fibroblast growth factor 9 (glia-activating factor) (FGF9), mRNA.	80					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|male gonad development|positive regulation of cell division	extracellular space	growth factor activity|heparin binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(2)	9		all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106)		all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163)		TTCCCCAATGGTACTATCCAG	0.463000												
RXFP3	51289	broad.mit.edu	37	5	33938061	33938061	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:33938061C>T	uc003jic.2	+	0	1571	c.1216C>T	c.(1216-1218)Cgc>Tgc	p.R406C		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 3 (RXFP3), mRNA.	406						integral to plasma membrane	N-formyl peptide receptor activity			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						CCTGCTGTGGCGCATCGCGTC	0.682000												
B4GALT4	8702	broad.mit.edu	37	3	118937520	118937520	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:118937520G>A	uc003ecg.3	-	5	1415	c.774C>T	c.(772-774)ggC>ggT	p.G258G	B4GALT4_uc003ece.1_Silent_p.G258G|B4GALT4_uc003ech.3_Silent_p.G258G|B4GALT4_uc003eci.3_Silent_p.G258G|B4GALT4_uc011biy.1_Intron	NM_212543	NP_997708	O60513	B4GT4_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4 (B4GALT4), transcript variant 1, mRNA.	258					membrane lipid metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	N-acetyllactosamine synthase activity|metal ion binding	p.G258G(2)		breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14				GBM - Glioblastoma multiforme(114;0.222)	N-Acetyl-D-glucosamine(DB00141)	CATCGTCTTCGCCTCCCCATC	0.488000												
HERC6	55008	broad.mit.edu	37	4	89358921	89358921	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:89358921A>G	uc011cdi.2	+	19	2726	c.2543A>G	c.(2542-2544)gAc>gGc	p.D848G	HERC6_uc011cdj.2_Missense_Mutation_p.D812G|HERC6_uc011cdk.2_Non-coding_Transcript|HERC6_uc011cdl.2_Non-coding_Transcript	NM_017912	NP_060382	Q8IVU3	HERC6_HUMAN	Homo sapiens hect domain and RLD 6 (HERC6), transcript variant 1, mRNA.	848	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		ATACCTGTGGACCAAACCAAC	0.303000												
TBL1X	6907	broad.mit.edu	37	X	9656277	9656277	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:9656277C>T	uc004csr.3	+	6	1065	c.578C>T	c.(577-579)gCc>gTc	p.A193V	TBL1X_uc004csq.4_Missense_Mutation_p.A142V|TBL1X_uc010ndr.3_Missense_Mutation_p.A142V|TBL1X_uc010ndq.3_Missense_Mutation_p.A193V|TBL1X_uc004css.3_Missense_Mutation_p.A144V	NM_005647	NP_001132940	O60907	TBL1X_HUMAN	Homo sapiens transducin (beta)-like 1X-linked (TBL1X), transcript variant 1, mRNA.	193					canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2)	20		Hepatocellular(5;0.000888)				AACAGAGAGGCCACGGTGAAT	0.617000												
C6orf162	57150	broad.mit.edu	37	6	88049953	88049953	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:88049953G>A	uc003plp.1	+	3	344	c.255G>A	c.(253-255)ggG>ggA	p.G85G	C6orf162_uc021zck.1_Intron|C6orf162_uc003plq.1_Silent_p.G85G	NM_001042493	NP_065158	Q96KF7	CF162_HUMAN	Homo sapiens chromosome 6 open reading frame 162 (C6orf162), transcript variant 1, mRNA.	85						integral to membrane				kidney(1)|large_intestine(1)|lung(1)	3		all_cancers(76;3.81e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.15e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.3e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0164)		ATAGTGAGGGGCACAGTTATA	0.388000												
NDUFS2	4720	broad.mit.edu	37	1	161180180	161180180	+	Splice_Site	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:161180180G>T	uc001fyv.3	+	9	1314	c.866_splice	c.e9+1	p.S289_splice	NDUFS2_uc010pki.2_Splice_Site_p.S191_splice|NDUFS2_uc001fyw.3_Splice_Site_p.S289_splice|NDUFS2_uc010pkj.2_Splice_Site_p.S238_splice	NM_004550	NP_004541	O75306	NDUS2_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase) (NDUFS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	289					mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|electron carrier activity|metal ion binding|protein binding|quinone binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	18	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		NADH(DB00157)	ATGGTTTTAGGTGAGGGGAAT	0.458000											OREG0013941	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
FZD6	8323	broad.mit.edu	37	8	104340603	104340603	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:104340603C>T	uc003ylh.3	+	4	1790	c.1500C>T	c.(1498-1500)tgC>tgT	p.C500C	FZD6_uc011lhn.2_Silent_p.C468C|FZD6_uc003ylj.3_Silent_p.C500C|FZD6_uc011lho.2_Silent_p.C195C|FZD6_uc011lhp.2_Silent_p.C445C	NM_001164615	NP_001158088	O60353	FZD6_HUMAN	Homo sapiens frizzled family receptor 6 (FZD6), transcript variant 2, mRNA.	500					G-protein signaling, coupled to cGMP nucleotide second messenger|angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			AAAAGACATGCACAGAATGGG	0.353000												
PPP1R3A	5506	broad.mit.edu	37	7	113558291	113558291	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:113558291C>T	uc010ljy.1	-	0	792	c.761G>A	c.(760-762)gGc>gAc	p.G254D		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	254					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						CTTTAAGCAGCCTTTTATTTG	0.294000												
VCAM1	7412	broad.mit.edu	37	1	101197021	101197021	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:101197021A>G	uc001dti.3	+	5	1693	c.1472A>G	c.(1471-1473)gAc>gGc	p.D491G	VCAM1_uc010ouj.2_Missense_Mutation_p.D429G|VCAM1_uc001dtj.3_Missense_Mutation_p.D399G	NM_001078	NP_001069	P19320	VCAM1_HUMAN	Homo sapiens vascular cell adhesion molecule 1 (VCAM1), transcript variant 1, mRNA.	491	Ig-like C2-type 5.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	CATATTGATGACATGGAATTC	0.363000												
DNAJB2	3300	broad.mit.edu	37	2	220145307	220145307	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:220145307C>T	uc002vkx.1	+	2	310	c.73C>T	c.(73-75)Cgc>Tgc	p.R25C	DNAJB2_uc010zla.1_Missense_Mutation_p.R25C|DNAJB2_uc002vkw.1_Missense_Mutation_p.R25C|DNAJB2_uc010zlb.1_5'Flank	NM_006736	NP_006727	P25686	DNJB2_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 2 (DNAJB2), transcript variant 2, mRNA.	25	J.				ER-associated protein catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|negative regulation of protein deubiquitination|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding|response to unfolded protein	inclusion body	Hsp70 protein binding|heat shock protein binding|polyubiquitin binding|proteasome binding|protein binding|unfolded protein binding	p.R25H(1)|p.R24W(1)		endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14		Renal(207;0.0474)		Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGGTATCGGCGCAAGGCTCT	0.517000												
NRG3	10718	broad.mit.edu	37	10	84745044	84745044	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:84745044A>G	uc021pvc.1	+	9	1873	c.1846A>G	c.(1846-1848)Att>Gtt	p.I616V	NRG3_uc010qlz.1_Missense_Mutation_p.I591V|NRG3_uc021pvb.1_Non-coding_Transcript|NRG3_uc001kco.2_Missense_Mutation_p.I592V|NRG3_uc001kcp.2_Missense_Mutation_p.I395V|NRG3_uc001kcq.2_Missense_Mutation_p.I242V|NRG3_uc021pvd.1_Missense_Mutation_p.I371V|NRG3_uc021pve.1_Missense_Mutation_p.I396V|NRG3_uc021pvf.1_Missense_Mutation_p.I242V|NRG3_uc021pvg.1_Missense_Mutation_p.I420V|NRG3_uc021pvh.1_Missense_Mutation_p.I204V|NRG3_uc021pvi.1_Missense_Mutation_p.I422V|NRG3_uc021pvk.1_Missense_Mutation_p.I132V|NRG3_uc001kcr.2_Missense_Mutation_p.I266V|NRG3_uc021pvl.1_Missense_Mutation_p.I242V	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	Homo sapiens neuregulin 3 (NRG3), transcript variant 1, mRNA.	616					regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		AATGCCAGGGATTTCTGAAGT	0.468000												
RBM27	54439	broad.mit.edu	37	5	145631338	145631338	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:145631338G>A	uc003lnz.4	+	8	1510	c.1344G>A	c.(1342-1344)ccG>ccA	p.P448P	RBM27_uc003lny.2_Intron	NM_018989	NP_061862	Q9P2N5	RBM27_HUMAN	Homo sapiens RNA binding motif protein 27 (RBM27), mRNA.	448					mRNA processing	cytoplasm|nuclear speck	RNA binding|nucleotide binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGGGACACCGCCTCCTCTGT	0.552000												
ABTB2	25841	broad.mit.edu	37	11	34218942	34218942	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:34218942G>A	uc001mvl.2	-	2	1599	c.1174C>T	c.(1174-1176)Cgg>Tgg	p.R392W		NM_145804	NP_665803	A8K6S9	A8K6S9_HUMAN	Homo sapiens ankyrin repeat and BTB (POZ) domain containing 2 (ABTB2), mRNA.	206							DNA binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				TGTGGACACCGCAGAAAGTAG	0.647000												
ABCA13	154664	broad.mit.edu	37	7	48314637	48314637	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:48314637G>A	uc003toq.2	+	16	5398	c.5374G>A	c.(5374-5376)Gca>Aca	p.A1792T	ABCA13_uc010kyr.2_Missense_Mutation_p.A1295T|ABCA13_uc022acp.1_Missense_Mutation_p.A291T	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	1792					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GGAAGACTTCGCAATTGTGAT	0.388000												
AKAP12	9590	broad.mit.edu	37	6	151671215	151671215	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:151671215C>T	uc011eep.2	+	3	1929	c.1689C>T	c.(1687-1689)ggC>ggT	p.G563G	AKAP12_uc003qoe.3_Silent_p.G563G|AKAP12_uc003qof.3_Silent_p.G465G|AKAP12_uc010kim.3_Intron|AKAP12_uc003qog.3_Silent_p.G458G	NM_005100	NP_005091	Q02952	AKA12_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 12 (AKAP12), transcript variant 1, mRNA.	563					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		AGCAAAAGGGCGAGAGCTCTG	0.572000												
HK2	3099	broad.mit.edu	37	2	75116443	75116443	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:75116443G>A	uc002snd.3	+	16	4373	c.2447G>A	c.(2446-2448)aGc>aAc	p.S816N		NM_000189	NP_000180	P52789	HXK2_HUMAN	Homo sapiens hexokinase 2 (HK2), mRNA.	816	Catalytic.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						TGTGACGACAGCATCATTGTT	0.612000												
MED1	5469	broad.mit.edu	37	17	37565282	37565282	+	Silent	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:37565282A>G	uc002hrv.4	-	16	3404	c.3192T>C	c.(3190-3192)acT>acC	p.T1064T	MED1_uc010wee.2_Silent_p.T892T|MED1_uc002hru.2_Intron	NM_004774	NP_004765	Q15648	MED1_HUMAN	Homo sapiens mediator complex subunit 1 (MED1), mRNA.	1064	Interaction with ESR1.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		GAATCTGAATAGTGATTTTGG	0.522000										HNSCC(31;0.082)		
LRP4	4038	broad.mit.edu	37	11	46880599	46880599	+	Nonsense_Mutation	SNP	G	G	A	rs147138337		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:46880599G>A	uc001ndn.4	-	37	5896	c.5653C>T	c.(5653-5655)Cga>Tga	p.R1885*	LOC100507401_uc001ndl.3_Intron|LRP4_uc001ndm.4_Nonsense_Mutation_p.R127*	NM_002334	NP_002325	O75096	LRP4_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.	1885					Wnt receptor signaling pathway|endocytosis|negative regulation of canonical Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	p.R1884R(1)		breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		AGAGAGCCTCGTCTTTCTGGA	0.567000												
MAS1L	116511	broad.mit.edu	37	6	29455184	29455184	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:29455184C>T	uc011dlq.2	-	0	496	c.496G>A	c.(496-498)Gcc>Acc	p.A166T		NM_052967	NP_443199	P35410	MAS1L_HUMAN	Homo sapiens MAS1 oncogene-like (MAS1L), mRNA.	166						cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						GTGCTGATGGCCACCAGGAGA	0.507000												
PARP4	143	broad.mit.edu	37	13	25075838	25075838	+	Silent	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:25075838T>C	uc001upl.3	-	2	373	c.267A>G	c.(265-267)gtA>gtG	p.V89V	PARP4_uc010tdc.2_Silent_p.V89V	NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 4 (PARP4), mRNA.	89	BRCT.				DNA repair|cell death|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|NAD+ ADP-ribosyltransferase activity|enzyme binding			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)		CATAATTCTTTACATCCAAGA	0.398000												
ROBO2	6092	broad.mit.edu	37	3	77666778	77666778	+	Silent	SNP	C	C	T	rs143561771	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:77666778C>T	uc011bgk.2	+	22	4063	c.3420C>T	c.(3418-3420)ggC>ggT	p.G1140G	ROBO2_uc021xat.1_Silent_p.G1152G|ROBO2_uc003dpy.4_Silent_p.G1136G|ROBO2_uc003dpz.3_Silent_p.G1140G|ROBO2_uc011bgj.2_Non-coding_Transcript|ROBO2_uc003dqa.3_Silent_p.G263G	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	1136					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CTGTTCGAGGCGTGGCTTCTT	0.532000												
FBXO25	26260	broad.mit.edu	37	8	401417	401417	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:401417C>T	uc003wox.3	+	6	890	c.624C>T	c.(622-624)gcC>gcT	p.A208A	FBXO25_uc003woy.3_Silent_p.A208A|FBXO25_uc003woz.3_Silent_p.A141A|FBXO25_uc003wpa.3_5'UTR	NM_183421	NP_904357	Q8TCJ0	FBX25_HUMAN	Homo sapiens F-box protein 25 (FBXO25), transcript variant 1, mRNA.	208						SCF ubiquitin ligase complex|nucleus	actin binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10		Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)		Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06)		CTATTCTCGCCTGGCAACAAC	0.368000												
CHST15	51363	broad.mit.edu	37	10	125780848	125780848	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:125780848T>C	uc001lhn.3	-	5	2005	c.1271A>G	c.(1270-1272)cAg>cGg	p.Q424R	CHST15_uc001lhm.3_Missense_Mutation_p.Q424R|CHST15_uc010que.2_Missense_Mutation_p.Q424R|CHST15_uc001lho.3_Missense_Mutation_p.Q424R	NM_015892	NP_056976	Q7LFX5	CHSTF_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15 (CHST15), transcript variant 1, mRNA.	424					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						TTCAAACAGCTGCAGTGCTTC	0.478000												
DNAH2	146754	broad.mit.edu	37	17	7661926	7661926	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:7661926C>T	uc002giu.1	+	12	2179	c.2165C>T	c.(2164-2166)gCc>gTc	p.A722V		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	722	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)				TTGAAGGGGGCCAGTGCCTTC	0.542000												
LONP2	83752	broad.mit.edu	37	16	48381516	48381516	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:48381516C>T	uc002efi.1	+	12	2126	c.2037C>T	c.(2035-2037)ggC>ggT	p.G679G	MIR548AE2_uc021thr.1_Intron|LONP2_uc010vgm.1_Non-coding_Transcript|LONP2_uc002efj.1_Silent_p.G635G	NM_031490	NP_113678	Q86WA8	LONP2_HUMAN	Homo sapiens lon peptidase 2, peroxisomal (LONP2), mRNA.	679					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GAATGGATGGCGAGGGCCAGT	0.567000												
BID	637	broad.mit.edu	37	22	18220811	18220811	+	Missense_Mutation	SNP	C	C	T	rs139212717		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:18220811C>T	uc002znd.2	-	4	721	c.548G>A	c.(547-549)cGc>cAc	p.R183H	BID_uc002znc.2_Missense_Mutation_p.R229H|BID_uc021wko.1_Missense_Mutation_p.R87H|BID_uc002zne.2_Missense_Mutation_p.R87H|BID_uc021wkp.1_Missense_Mutation_p.R87H|BID_uc002znf.2_Missense_Mutation_p.R87H|BID_uc010gra.2_Non-coding_Transcript|BID_uc010grc.1_Missense_Mutation_p.R87H|BID_uc010grb.1_Missense_Mutation_p.R183H	NM_001196	NP_001187	P55957	BID_HUMAN	Homo sapiens BH3 interacting domain death agonist (BID), transcript variant 2, mRNA.	183					activation of pro-apoptotic gene products|establishment of protein localization in membrane|induction of apoptosis by intracellular signals|induction of apoptosis via death domain receptors|neuron apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria|release of cytochrome c from mitochondria	cytosol|membrane fraction|mitochondrial outer membrane	death receptor binding			large_intestine(2)|ovary(1)	3		all_epithelial(15;0.198)		Lung(27;0.0419)		CACGTAGGTGCGTAGGTTCTG	0.547000												
XKR4	114786	broad.mit.edu	37	8	56436092	56436092	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:56436092A>G	uc003xsf.3	+	2	1291	c.1259A>G	c.(1258-1260)gAg>gGg	p.E420G		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 4 (XKR4), mRNA.	420						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)			GTCCACTGTGAGACAGAATTC	0.468000												
GAS7	8522	broad.mit.edu	37	17	9828828	9828828	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:9828828T>C	uc002gmg.1	-	10	1264	c.1103A>G	c.(1102-1104)gAc>gGc	p.D368G	GAS7_uc010vvc.1_Missense_Mutation_p.D182G|GAS7_uc002gmh.1_Missense_Mutation_p.D228G|GAS7_uc010vvd.1_Missense_Mutation_p.D320G|GAS7_uc002gmi.2_Missense_Mutation_p.D304G|GAS7_uc002gmj.1_Missense_Mutation_p.D308G|GAS7_uc010coh.1_Missense_Mutation_p.D308G	NM_201433	NP_001124303	O60861	GAS7_HUMAN	Homo sapiens growth arrest-specific 7 (GAS7), transcript variant c, mRNA.	368					cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						CTTCTTGATGTCCTCCTCTGT	0.612000			T	MLL	AML*						OREG0024170	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
MINA	84864	broad.mit.edu	37	3	97666220	97666220	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:97666220C>T	uc003drz.1	-	7	1640	c.1134G>A	c.(1132-1134)ccG>ccA	p.P378P	MINA_uc003dsa.1_Silent_p.P377P|MINA_uc003dsb.1_Silent_p.P378P|MINA_uc003dsc.1_Silent_p.P377P|MINA_uc010hpa.1_Non-coding_Transcript	NM_001042533	NP_694822	Q8IUF8	MINA_HUMAN	Homo sapiens MYC induced nuclear antigen (MINA), transcript variant 1, mRNA.	378					ribosome biogenesis	cytoplasm|nucleolus				breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)	13						GATCTTGATCCGGCAGTACTG	0.463000												
MYO7B	4648	broad.mit.edu	37	2	128339927	128339927	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:128339927G>A	uc002top.3	+	11	1302	c.1249G>A	c.(1249-1251)Gcc>Acc	p.A417T		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	417	Myosin head-like.					apical plasma membrane|myosin complex	ATP binding|actin 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)		GATCAATGCCGCCATCTTCAC	0.547000												
DNAJA3	9093	broad.mit.edu	37	16	4491417	4491417	+	Silent	SNP	C	C	T	rs139524293		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:4491417C>T	uc002cwk.3	+	3	548	c.471C>T	c.(469-471)taC>taT	p.Y157Y	DNAJA3_uc002cwl.3_Silent_p.Y157Y|DNAJA3_uc010uxk.2_Intron	NM_005147	NP_005138	Q96EY1	DNJA3_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily A, member 3 (DNAJA3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	157	J.				activation of caspase activity|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of cell proliferation|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of protein kinase activity|neuromuscular junction development|positive regulation of apoptosis|positive regulation of protein ubiquitination|protein folding|protein stabilization|response to heat|response to interferon-gamma	cytosol|mitochondrial matrix|mitochondrial nucleoid|nucleus	ATP binding|NF-kappaB binding|heat shock protein binding|interferon-gamma receptor binding|metal ion binding|protein kinase binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|upper_aerodigestive_tract(2)	15						ACGATGCCTACGGCTCTGCAG	0.577000												
TMPRSS6	164656	broad.mit.edu	37	22	37462911	37462911	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:37462911G>A	uc003aqt.1	-	17	2333	c.2271C>T	c.(2269-2271)cgC>cgT	p.R757R	TMPRSS6_uc003aqs.1_Silent_p.R744R	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	Homo sapiens transmembrane protease, serine 6 (TMPRSS6), mRNA.	744	Peptidase S1.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						CACACAGCATGCGTGGCGTCA	0.612000												
CDC5L	988	broad.mit.edu	37	6	44364110	44364110	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:44364110C>T	uc003oxl.3	+	4	782	c.472C>T	c.(472-474)Cgc>Tgc	p.R158C		NM_001253	NP_001244	Q99459	CDC5L_HUMAN	Homo sapiens CDC5 cell division cycle 5-like (S. pombe) (CDC5L), mRNA.	158					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AGCCAGAGCCCGCTTGGCTAA	0.378000												
ESR1	2099	broad.mit.edu	37	6	152201884	152201884	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:152201884C>T	uc010kio.3	+	3	962	c.744C>T	c.(742-744)taC>taT	p.Y248Y	ESR1_uc003qom.4_Silent_p.Y246Y|ESR1_uc010kin.3_Silent_p.Y246Y|ESR1_uc010kip.3_Silent_p.Y246Y|ESR1_uc003qon.4_Silent_p.Y246Y|ESR1_uc010kir.3_Intron|ESR1_uc003qoo.4_Silent_p.Y246Y|ESR1_uc010kiq.3_Nonsense_Mutation_p.R3*|ESR1_uc021zgz.1_Intron|ESR1_uc011eeu.2_Non-coding_Transcript|ESR1_uc011eev.2_Intron|ESR1_uc011eew.2_Intron|ESR1_uc011eet.2_Intron|ESR1_uc010kis.3_Silent_p.Y73Y|ESR1_uc021zha.1_Intron|ESR1_uc011eex.2_Silent_p.Y27Y	NM_001122742	NP_001116214	P03372	ESR1_HUMAN	Homo sapiens estrogen receptor 1 (ESR1), transcript variant 4, mRNA.	246	Mediates interaction with DNTTIP2.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding	p.E247K(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	GTAAATGCTACGAAGTGGGAA	0.537000												
GRAMD4	23151	broad.mit.edu	37	22	47070595	47070595	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:47070595C>T	uc003bhx.3	+	14	1475	c.1426C>T	c.(1426-1428)Cgg>Tgg	p.R476W	GRAMD4_uc010had.3_Missense_Mutation_p.R415W|GRAMD4_uc003bhy.3_5'UTR	NM_015124	NP_055939	Q6IC98	GRAM4_HUMAN	Homo sapiens GRAM domain containing 4 (GRAMD4), mRNA.	476	GRAM.				apoptosis	integral to membrane|mitochondrial membrane		p.D475D(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		CAACAGGGACCGGAAGATGCC	0.627000												
SIPA1L3	23094	broad.mit.edu	37	19	38590640	38590640	+	Silent	SNP	G	G	A	rs142598144		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:38590640G>A	uc002ohk.3	+	4	2213	c.1704G>A	c.(1702-1704)acG>acA	p.T568T		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	568					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			AAGATGCTACGCCCACAGCCA	0.607000												
COL19A1	1310	broad.mit.edu	37	6	70639518	70639518	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:70639518G>A	uc003pfc.1	+	5	709	c.592G>A	c.(592-594)Gat>Aat	p.D198N	COL19A1_uc010kam.2_Missense_Mutation_p.D94N	NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	198	TSP N-terminal.				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	p.T197P(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GAGGCAGACTGATGAAAAGGA	0.423000												
BCAR3	8412	broad.mit.edu	37	1	94140374	94140374	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:94140374C>T	uc001dpz.3	-	1	388	c.113G>A	c.(112-114)cGc>cAc	p.R38H	BCAR3_uc001dqa.3_Missense_Mutation_p.R38H|BCAR3_uc001dqb.3_Missense_Mutation_p.R38H	NM_003567	NP_003558	O75815	BCAR3_HUMAN	Homo sapiens breast cancer anti-estrogen resistance 3 (BCAR3), mRNA.	38					response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		GGCATCTGGGCGATGCTCAGC	0.532000												
SEMA6D	80031	broad.mit.edu	37	15	48052028	48052028	+	Silent	SNP	G	G	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:48052028G>C	uc010bek.3	+	1	393	c.33G>C	c.(31-33)ctG>ctC	p.L11L	SEMA6D_uc001zvw.3_Silent_p.L11L|SEMA6D_uc001zvx.1_Silent_p.L11L|SEMA6D_uc001zvy.3_Silent_p.L11L|SEMA6D_uc001zvz.3_Silent_p.L11L|SEMA6D_uc001zwa.3_Silent_p.L11L|SEMA6D_uc001zwb.3_Silent_p.L11L|SEMA6D_uc001zwc.3_Silent_p.L11L	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D (SEMA6D), transcript variant 4, mRNA.	11					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		CCTACATACTGCTGCTGATGG	0.502000												
RHOBTB3	22836	broad.mit.edu	37	5	95072640	95072640	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:95072640C>T	uc003klm.3	+	2	813	c.276C>T	c.(274-276)ggC>ggT	p.G92G	RHOBTB3_uc003klk.1_5'UTR	NM_014899	NP_055714	O94955	RHBT3_HUMAN	Homo sapiens Rho-related BTB domain containing 3 (RHOBTB3), mRNA.	92	Rho-like.				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		TAATTGGGGGCGCTGACATCA	0.338000												
TCF20	6942	broad.mit.edu	37	22	42609903	42609903	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:42609903A>G	uc003bcj.1	-	0	1543	c.1409T>C	c.(1408-1410)gTc>gCc	p.V470A	TCF20_uc003bck.1_Missense_Mutation_p.V470A	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA.	470					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CATGTGCTGGACAGTGTTAGG	0.488000												
CD6	923	broad.mit.edu	37	11	60785861	60785861	+	Silent	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:60785861T>C	uc001nqq.3	+	11	2163	c.1938T>C	c.(1936-1938)tgT>tgC	p.C646C	CD6_uc001nqs.3_Intron|CD6_uc001nqr.3_Intron|CD6_uc001nqt.3_Intron	NM_006725	NP_006716	P30203	CD6_HUMAN	Homo sapiens CD6 molecule (CD6), transcript variant 1, mRNA.	646					cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						AGTTTGGCTGTCCAGGTGCCA	0.602000												
LAMC3	10319	broad.mit.edu	37	9	133946996	133946996	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:133946996C>T	uc004caa.1	+	17	3293	c.3195C>T	c.(3193-3195)ggC>ggT	p.G1065G		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	Homo sapiens laminin, gamma 3 (LAMC3), mRNA.	1065	Domain II and I.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		TCTACCAGGGCCATCACCTGC	0.657000												
XDH	7498	broad.mit.edu	37	2	31567583	31567583	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:31567583T>C	uc002rnv.1	-	30	3450	c.3371A>G	c.(3370-3372)gAc>gGc	p.D1124G		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	1124					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	p.M1123I(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GCTCACTGTGTCCATGTAGGC	0.522000												
TLR7	51284	broad.mit.edu	37	X	12905875	12905875	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:12905875C>T	uc004cvc.3	+	2	2387	c.2248C>T	c.(2248-2250)Cga>Tga	p.R750*		NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	Homo sapiens toll-like receptor 7 (TLR7), mRNA.	750					I-kappaB phosphorylation|cellular response to mechanical stimulus|defense response to virus|inflammatory response|innate immune response|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|siRNA binding|single-stranded RNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	CTTCCAGTTGCGATATCTGGA	0.383000												
SP7	121340	broad.mit.edu	37	12	53723085	53723085	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:53723085C>T	uc001sct.3	-	1	248	c.141G>A	c.(139-141)ccG>ccA	p.P47P	SP7_uc001scv.3_Silent_p.P47P|SP7_uc001scu.3_Silent_p.P29P	NM_152860	NP_690599	Q8TDD2	SP7_HUMAN	Homo sapiens Sp7 transcription factor (SP7), transcript variant 2, mRNA.	47					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						CCACAGAGTACGGCTTCTTTG	0.572000												
CCDC129	223075	broad.mit.edu	37	7	31592727	31592727	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:31592727C>T	uc011kae.2	+	1	179	c.167C>T	c.(166-168)gCg>gTg	p.A56V	CCDC129_uc011kad.1_Missense_Mutation_p.A40V|CCDC129_uc003tcj.1_Missense_Mutation_p.A30V|CCDC129_uc003tci.1_Missense_Mutation_p.A29V|CCDC129_uc003tck.1_5'Flank	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	Homo sapiens coiled-coil domain containing 129 (CCDC129), mRNA.	30										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						ACCAAAAGCGCGTGGGCTCCG	0.537000												
SETBP1	26040	broad.mit.edu	37	18	42281686	42281686	+	Silent	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:42281686T>C	uc010dni.3	+	1	671	c.375T>C	c.(373-375)tgT>tgC	p.C125C	SETBP1_uc002lay.3_Silent_p.C125C	NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	125						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		ACTATATATGTCCACCTGAGA	0.468000									Schinzel-Giedion syndrome			
EXTL3	2137	broad.mit.edu	37	8	28600685	28600685	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:28600685C>T	uc003xgz.1	+	5	3097	c.2504C>T	c.(2503-2505)gCc>gTc	p.A835V		NM_001440	NP_001431	O43909	EXTL3_HUMAN	Homo sapiens exostoses (multiple)-like 3 (EXTL3), mRNA.	835						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			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)		GAGGACATTGCCATGAACTTC	0.507000												
PDE11A	50940	broad.mit.edu	37	2	178936644	178936644	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:178936644G>A	uc002ulq.3	-	0	839	c.521C>T	c.(520-522)gCg>gTg	p.A174V	PDE11A_uc002ulr.3_Intron|PDE11A_uc002ult.1_Intron	NM_016953	NP_001070664	Q9HCR9	PDE11_HUMAN	Homo sapiens phosphodiesterase 11A (PDE11A), transcript variant 4, mRNA.	174					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			TTCCAGCAGCGCACTGAGAAT	0.562000									Primary Pigmented Nodular Adrenocortical Disease, Familial			
EIF4E2	9470	broad.mit.edu	37	2	233431863	233431863	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:233431863C>T	uc002vta.3	+	5	682	c.604C>T	c.(604-606)Cga>Tga	p.R202*	EIF4E2_uc002vtb.1_Nonsense_Mutation_p.R202*|EIF4E2_uc010zmi.1_Nonsense_Mutation_p.R157*	NM_004846	NP_004837	O60573	IF4E2_HUMAN	Homo sapiens eukaryotic translation initiation factor 4E family member 2 (EIF4E2), mRNA.	202					regulation of translation	cytoplasm|mRNA cap binding complex	RNA cap binding|translation initiation factor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;2.3e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000912)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CACACTTCGGCGAGTGCTTAA	0.488000												
EHF	26298	broad.mit.edu	37	11	34680177	34680177	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:34680177C>T	uc021qfu.1	+	7	897	c.771C>T	c.(769-771)ggC>ggT	p.G257G	EHF_uc001mvr.2_Silent_p.G235G|EHF_uc009yke.2_Silent_p.G212G|EHF_uc009ykf.2_Silent_p.G238G	NM_001206616	NP_001193545	Q9NZC4	EHF_HUMAN	Homo sapiens ets homologous factor (EHF), transcript variant 1, mRNA.	235					cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		NFIA/EHF(2)	autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1)	17		all_hematologic(20;0.117)	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)			GATCTGAGGGCGTCTTCAGGT	0.488000												
RNF31	55072	broad.mit.edu	37	14	24620776	24620776	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:24620776G>A	uc001wmn.1	+	9	2069	c.1820G>A	c.(1819-1821)cGg>cAg	p.R607Q	RNF31_uc001wml.1_Missense_Mutation_p.R456Q|RNF31_uc001wmm.1_Intron|RNF31_uc010alg.1_Missense_Mutation_p.R366Q|RNF31_uc001wmo.1_Missense_Mutation_p.R74Q|RNF31_uc001wmp.3_Non-coding_Transcript	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN	Homo sapiens ring finger protein 31 (RNF31), mRNA.	607	Interaction with RBCK1.|UBA.				CD40 signaling pathway|T cell receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination	CD40 receptor complex|LUBAC complex|internal side of plasma membrane	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		GATGTGTCACGGGCCCTGACT	0.642000												
ELN	2006	broad.mit.edu	37	7	73474271	73474271	+	Silent	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:73474271T>C	uc003tzw.3	+	22	1579	c.1488T>C	c.(1486-1488)ggT>ggC	p.G496G	ELN_uc003tzn.3_Silent_p.G490G|ELN_uc003tzy.3_Silent_p.G466G|ELN_uc003tzz.3_Silent_p.G409G|ELN_uc003tzo.3_Silent_p.G457G|ELN_uc003tzp.3_Silent_p.G401G|ELN_uc003tzq.3_Silent_p.G354G|ELN_uc003tzr.3_Intron|ELN_uc003tzs.3_Silent_p.G471G|ELN_uc003tzt.3_Silent_p.G495G|ELN_uc003tzu.3_Silent_p.G476G|ELN_uc003tzv.3_Silent_p.G461G|ELN_uc011kfe.2_Intron|ELN_uc003tzx.3_Silent_p.G480G|ELN_uc011kff.2_Silent_p.G490G	NM_000501	NP_001075224	P15502	ELN_HUMAN	Homo sapiens elastin (ELN), transcript variant 1, mRNA.	519	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	CTGGTGTCGGTGTGGCTCCTG	0.602000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""					
TOX	9760	broad.mit.edu	37	8	59728227	59728227	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:59728227C>T	uc003xtw.1	-	6	1283	c.1062G>A	c.(1060-1062)tcG>tcA	p.S354S		NM_014729	NP_055544	O94900	TOX_HUMAN	Homo sapiens thymocyte selection-associated high mobility group box (TOX), mRNA.	354						nucleus	DNA binding	p.S354L(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				CCGACGGCTTCGAATTGATCA	0.517000												
NAGK	55577	broad.mit.edu	37	2	71298926	71298926	+	Silent	SNP	C	C	T	rs11539622	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:71298926C>T	uc002shr.3	+	2	2147	c.171C>T	c.(169-171)gcC>gcT	p.A57A	NAGK_uc002shp.4_Silent_p.A154A|NAGK_uc002shq.4_5'UTR			Q9UJ70	NAGK_HUMAN	Homo sapiens N-acetylglucosamine kinase (NAGK), mRNA.	108					N-acetylglucosamine metabolic process|N-acetylmannosamine metabolic process		ATP binding|N-acetylglucosamine kinase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|urinary_tract(1)	18					N-Acetyl-D-glucosamine(DB00141)	CCACCGATGCCGCCGGCTCCA	0.572000												
NAV1	89796	broad.mit.edu	37	1	201751650	201751650	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:201751650C>T	uc021phi.1	+	5	2357	c.2010C>T	c.(2008-2010)taC>taT	p.Y670Y	NAV1_uc001gwu.3_Silent_p.Y670Y|NAV1_uc001gwv.1_Silent_p.Y178Y|NAV1_uc001gww.2_Silent_p.Y279Y|NAV1_uc001gwx.3_Silent_p.Y279Y|NAV1_uc001gwy.1_Silent_p.Y51Y	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	Homo sapiens neuron navigator 1 (NAV1), transcript variant 1, mRNA.	670					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						ACATCCAGTACCGCAGCCTGC	0.597000												
HDAC7	51564	broad.mit.edu	37	12	48188645	48188645	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:48188645G>A	uc010slo.2	-	11	1551	c.1356C>T	c.(1354-1356)ggC>ggT	p.G452G	HDAC7_uc001rqe.3_5'Flank|HDAC7_uc001rqj.4_Silent_p.G415G|HDAC7_uc001rqk.4_Silent_p.G435G	NM_015401	NP_056216	Q8WUI4	HDAC7_HUMAN	Homo sapiens histone deacetylase 7 (HDAC7), transcript variant 1, mRNA.	413	Transcription repression 2 (By similarity).				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|protein kinase C binding|repressing transcription factor binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		CCGGTCCCCCGCCATCTGTCT	0.687000												
RAPGEF2	9693	broad.mit.edu	37	4	160265202	160265202	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:160265202G>A	uc003iqg.4	+	16	3096	c.2786G>A	c.(2785-2787)cGg>cAg	p.R929Q		NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 2 (RAPGEF2), mRNA.	929	Ras-GEF.				MAPKKK cascade|cAMP-mediated signaling|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|calcium ion binding|diacylglycerol binding|signal transducer activity	p.R917P(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		AAGAAATGGCGGAGTTTGGGG	0.433000												
MMP1	4312	broad.mit.edu	37	11	102665947	102665947	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:102665947G>A	uc001phi.2	-	5	1000	c.857C>T	c.(856-858)gCt>gTt	p.A286V	LOC100288077_uc001phh.1_Non-coding_Transcript|MMP1_uc010ruv.1_Missense_Mutation_p.A220V	NM_002421	NP_001139410	P03956	MMP1_HUMAN	Homo sapiens matrix metallopeptidase 1 (interstitial collagenase) (MMP1), transcript variant 1, mRNA.	286	Hemopexin-like 1.				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.A286D(2)		breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		CGTAGTTATAGCATCAAAGGT	0.408000												
KCND2	3751	broad.mit.edu	37	7	119915461	119915461	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:119915461C>T	uc003vjj.1	+	0	1740	c.775C>T	c.(775-777)Cgt>Tgt	p.R259C		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA.	259					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					CCGTTTTGTGCGTAGTGTCAT	0.527000												
REEP2	51308	broad.mit.edu	37	5	137776765	137776765	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:137776765C>T	uc003lda.3	+	1	215	c.93C>T	c.(91-93)aaC>aaT	p.N31N	REEP2_uc003lcz.3_Silent_p.N31N|REEP2_uc011cyt.2_5'UTR	NM_016606	NP_057690	Q9BRK0	REEP2_HUMAN	Homo sapiens receptor accessory protein 2 (REEP2), mRNA.	31						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			AGACAAAAAACGTGAAGGAAT	0.547000												
C11orf73	51501	broad.mit.edu	37	11	86048431	86048431	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:86048431C>T	uc001pbu.3	+	2	517	c.279C>T	c.(277-279)agC>agT	p.S93S	C11orf73_uc010rto.2_Non-coding_Transcript|C11orf73_uc010rtp.2_5'UTR|C11orf73_uc001pbv.3_Non-coding_Transcript	NM_016401	NP_057485	Q53FT3	CK073_HUMAN	Homo sapiens chromosome 11 open reading frame 73 (C11orf73), transcript variant 1, mRNA.	93						cytoplasm				kidney(1)|large_intestine(1)|urinary_tract(1)	3		Acute lymphoblastic leukemia(157;1.17e-07)|all_hematologic(158;0.000556)				GAGAAGGAAGCCAACATCCTT	0.358000												
NRXN1	9378	broad.mit.edu	37	2	50724782	50724782	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:50724782C>T	uc021vhh.1	-	12	3489	c.2568G>A	c.(2566-2568)cgG>cgA	p.R856R	NRXN1_uc002rxb.4_Silent_p.R528R|NRXN1_uc021vhg.1_Silent_p.R896R|NRXN1_uc021vhi.1_Silent_p.R892R|NRXN1_uc021vhj.1_Silent_p.R852R|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	856	Laminin G-like 4.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			AAGAAAGATACCGTCGTTCTG	0.398000												
EFHA2	286097	broad.mit.edu	37	8	16956025	16956025	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:16956025G>A	uc003wxd.2	+	8	989	c.947G>A	c.(946-948)cGt>cAt	p.R316H		NM_181723	NP_859074	Q86XE3	EFHA2_HUMAN	Homo sapiens EF-hand domain family, member A2 (EFHA2), mRNA.	316						integral to membrane	calcium ion binding	p.R316H(2)|p.R316G(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(1)|skin(4)	23				Colorectal(111;0.0686)|COAD - Colon adenocarcinoma(73;0.239)		ACACTGAGACGTAACACAAGC	0.388000												
CCDC71	64925	broad.mit.edu	37	3	49200838	49200838	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:49200838C>T	uc003cwg.4	-	1	942	c.804G>A	c.(802-804)cgG>cgA	p.R268R	CCDC71_uc021wxs.1_Silent_p.R268R	NM_022903	NP_075054	Q8IV32	CCD71_HUMAN	Homo sapiens coiled-coil domain containing 71 (CCDC71), mRNA.	268										endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CTTTCATTCGCCGGACACTGG	0.637000												
AUTS2	26053	broad.mit.edu	37	7	70255333	70255333	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:70255333G>A	uc003tvw.4	+	18	3866	c.3131G>A	c.(3130-3132)cGc>cAc	p.R1044H	AUTS2_uc003tvx.4_Missense_Mutation_p.R1020H|AUTS2_uc011keg.2_Missense_Mutation_p.R496H	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	Homo sapiens autism susceptibility candidate 2 (AUTS2), transcript variant 1, mRNA.	1044								p.R1044H(2)		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)		GACAGGACTCGCATGATGACC	0.662000												
TIMM22	29928	broad.mit.edu	37	17	902137	902137	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:902137G>A	uc002fsc.3	+	1	383	c.357G>A	c.(355-357)ggG>ggA	p.G119G		NM_013337	NP_037469	Q9Y584	TIM22_HUMAN	Homo sapiens translocase of inner mitochondrial membrane 22 homolog (yeast) (TIMM22), nuclear gene encoding mitochondrial protein, mRNA.	119					transmembrane transport	integral to membrane|mitochondrial inner membrane	protein transporter activity			breast(2)|endometrium(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		AAGACATGGGGCAGAGAGGAA	0.468000												
PASK	23178	broad.mit.edu	37	2	242075305	242075305	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:242075305G>A	uc002wao.2	-	7	1420	c.1287C>T	c.(1285-1287)gaC>gaT	p.D429D	PASK_uc010zol.2_Silent_p.D243D|PASK_uc010zom.2_Silent_p.D394D|PASK_uc010fzl.2_Silent_p.D429D|PASK_uc010zon.2_Silent_p.D210D|PASK_uc021vzf.1_Silent_p.D429D|PASK_uc002wap.3_5'Flank|PASK_uc002waq.3_Silent_p.D429D	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	Homo sapiens PAS domain containing serine/threonine kinase (PASK), transcript variant 2, mRNA.	429					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CCTCAGCTGGGTCCTGGCCCT	0.637000												
CDH4	1002	broad.mit.edu	37	20	60504690	60504690	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:60504690C>T	uc002ybn.2	+	12	2117	c.2029C>T	c.(2029-2031)Cgc>Tgc	p.R677C	CDH4_uc002ybr.2_Missense_Mutation_p.R640C|CDH4_uc002ybp.2_Missense_Mutation_p.R603C	NM_001794	NP_001785	P55283	CADH4_HUMAN	Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.	677	Cadherin 5.				adherens junction organization|cell junction assembly		calcium ion binding	p.R677H(1)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			ACTCAGCTTGCGCATCCTGTA	0.532000												
FRMD6	122786	broad.mit.edu	37	14	52169261	52169261	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:52169261T>A	uc001wzd.3	+	4	611	c.326T>A	c.(325-327)aTc>aAc	p.I109N	FRMD6_uc001wzb.3_Missense_Mutation_p.I101N|FRMD6_uc001wzc.3_Missense_Mutation_p.I101N|FRMD6_uc001wze.3_Missense_Mutation_p.I32N	NM_152330	NP_689543	Q96NE9	FRMD6_HUMAN	Homo sapiens FERM domain containing 6 (FRMD6), transcript variant 2, mRNA.	109	FERM.					cytoskeleton|mitochondrion|plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					CCTATGATCATCCACTTCCGT	0.408000												
EFR3A	23167	broad.mit.edu	37	8	133014887	133014887	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:133014887G>A	uc003yte.3	+	20	2448	c.2244G>A	c.(2242-2244)agG>agA	p.R748R		NM_015137	NP_055952	Q14156	EFR3A_HUMAN	Homo sapiens EFR3 homolog A (S. cerevisiae) (EFR3A), mRNA.	748						plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			AGGAAAAGAGGCGTCTTGTGA	0.378000												
CBLB	868	broad.mit.edu	37	3	105400357	105400357	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:105400357C>T	uc003dwc.3	-	15	2716	c.2394G>A	c.(2392-2394)acG>acA	p.T798T	CBLB_uc003dwa.3_Intron|CBLB_uc011bhi.2_Intron|CBLB_uc003dwd.2_Silent_p.T798T|CBLB_uc003dwe.2_3'UTR	NM_170662	NP_733762	Q13191	CBLB_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence b (CBLB), mRNA.	798	Pro-rich.				NLS-bearing substrate import into nucleus|cell surface receptor linked signaling pathway	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						AATCAGAGGGCGTCCTGTTGA	0.438000			Mis S		AML							
CARS2	79587	broad.mit.edu	37	13	111319736	111319736	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:111319736G>A	uc001vrd.2	-	7	910	c.870C>T	c.(868-870)tgC>tgT	p.C290C	CARS2_uc010tjm.1_Non-coding_Transcript	NM_024537	NP_078813	Q9HA77	SYCM_HUMAN	Homo sapiens cysteinyl-tRNA synthetase 2, mitochondrial (putative) (CARS2), nuclear gene encoding mitochondrial protein, mRNA.	290					cysteinyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|cysteine-tRNA ligase activity|metal ion binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	GAAAGACTTCGCACTGTGCAA	0.388000												
GPR155	151556	broad.mit.edu	37	2	175346233	175346233	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:175346233T>C	uc002uit.3	-	2	843	c.452A>G	c.(451-453)tAc>tGc	p.Y151C	GPR155_uc002uiu.3_Missense_Mutation_p.Y151C|GPR155_uc002uiv.3_Missense_Mutation_p.Y151C|GPR155_uc010fqs.3_Missense_Mutation_p.Y151C	NM_001033045	NP_689742	Q7Z3F1	GP155_HUMAN	Homo sapiens G protein-coupled receptor 155 (GPR155), transcript variant 9, mRNA.	151					intracellular signal transduction|transmembrane transport	integral to membrane				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						ACCTATAGGGTATCCCAATGC	0.299000												
FERD3L	222894	broad.mit.edu	37	7	19184742	19184742	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:19184742G>A	uc003suo.1	-	0	303	c.244C>T	c.(244-246)Cgc>Tgc	p.R82C	BC043576_uc003sun.1_Non-coding_Transcript	NM_152898	NP_690862	Q96RJ6	FER3L_HUMAN	Homo sapiens Fer3-like (Drosophila) (FERD3L), mRNA.	82					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.E81*(1)|p.E81_R82insE(1)		breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						cctcttccgcgctcctcttcc	0.617000												
PCCA	5095	broad.mit.edu	37	13	100909900	100909900	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:100909900G>A	uc001voo.3	+	8	795	c.689G>A	c.(688-690)cGc>cAc	p.R230H	PCCA_uc010aga.3_Missense_Mutation_p.R204H|PCCA_uc010tiz.2_Missense_Mutation_p.R230H	NM_000282	NP_000273	P05165	PCCA_HUMAN	Homo sapiens propionyl CoA carboxylase, alpha polypeptide (PCCA), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	230	ATP-grasp.|Biotin carboxylation.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity	p.R230H(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	AAAGGCATGCGCATTGCTTGG	0.443000												
COL24A1	255631	broad.mit.edu	37	1	86591810	86591810	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:86591810G>A	uc001dlj.3	-	2	284	c.209C>T	c.(208-210)cCg>cTg	p.P70L	COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_5'UTR|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript|COL24A1_uc009wcq.3_Missense_Mutation_p.P70L	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.	70	TSP N-terminal.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CTGAGGTAACGGTGTAGATGC	0.418000												
IL23R	149233	broad.mit.edu	37	1	67724598	67724598	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:67724598T>G	uc001ddo.3	+	10	1762	c.1677T>G	c.(1675-1677)agT>agG	p.S559R	IL23R_uc009waz.3_Missense_Mutation_p.S356R|IL23R_uc010opi.2_Non-coding_Transcript|IL23R_uc010opj.2_Missense_Mutation_p.S157R|IL23R_uc010opk.2_3'UTR|IL23R_uc010opl.2_Missense_Mutation_p.S141R|IL23R_uc010opm.2_Non-coding_Transcript|IL23R_uc001ddq.3_Missense_Mutation_p.S305R|IL23R_uc010opn.2_Missense_Mutation_p.S404R|IL23R_uc001ddr.3_Non-coding_Transcript|IL23R_uc010oqh.2_Missense_Mutation_p.S200R|IL23R_uc010oqf.2_Missense_Mutation_p.S157R|IL23R_uc010ops.2_Missense_Mutation_p.S356R|IL23R_uc010opt.2_Missense_Mutation_p.S200R|IL23R_uc010opu.2_Missense_Mutation_p.S255R|IL23R_uc010opv.2_Missense_Mutation_p.S317R|IL23R_uc010opw.2_Missense_Mutation_p.S194R|IL23R_uc010opx.2_Missense_Mutation_p.S200R|IL23R_uc010opy.2_Missense_Mutation_p.S326R|IL23R_uc010opz.2_Missense_Mutation_p.S200R|IL23R_uc010oqa.2_Missense_Mutation_p.S200R|IL23R_uc010oqb.2_Missense_Mutation_p.S388R|IL23R_uc010oqc.2_Missense_Mutation_p.S275R|IL23R_uc010oqd.2_Missense_Mutation_p.S194R|IL23R_uc010oqe.2_Missense_Mutation_p.S157R|IL23R_uc010oqg.2_Missense_Mutation_p.S157R|IL23R_uc001dds.3_Missense_Mutation_p.S304R|IL23R_uc001ddt.3_Missense_Mutation_p.S157R	NM_144701	NP_653302	Q5VWK5	IL23R_HUMAN	Homo sapiens interleukin 23 receptor (IL23R), mRNA.	559					inflammatory response|negative regulation of interleukin-10 production|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						GAGAATGCAGTTCTCCTGACA	0.383000												
MLL3	58508	broad.mit.edu	37	7	151878749	151878749	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:151878749G>A	uc003wla.3	-	35	6415	c.6196C>T	c.(6196-6198)Cga>Tga	p.R2066*	MLL3_uc003wkz.3_Nonsense_Mutation_p.R1127*	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	2066	Pro-rich.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		ACAGACAATCGCCTTGATGCC	0.453000			N		medulloblastoma							
SMARCA2	6595	broad.mit.edu	37	9	2115922	2115922	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:2115922C>T	uc003zhc.3	+	24	3656	c.3557C>T	c.(3556-3558)gCg>gTg	p.A1186V	SMARCA2_uc003zhd.3_Missense_Mutation_p.A1186V|SMARCA2_uc010mha.3_Missense_Mutation_p.A1119V	NM_003070	NP_003061	P51531	SMCA2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 (SMARCA2), transcript variant 1, mRNA.	1186	Helicase C-terminal.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	SWI/SNF complex|WINAC complex|intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm	ATP binding|DNA-dependent ATPase activity|RNA polymerase II transcription coactivator activity|helicase activity|protein binding|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		AAGATCCTCGCGGCCGCAAAA	0.582000												
IQSEC3	440073	broad.mit.edu	37	12	266244	266244	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:266244G>A	uc001qhw.2	+	5	2207	c.2207G>A	c.(2206-2208)cGc>cAc	p.R736H	IQSEC3_uc001qhu.1_Missense_Mutation_p.R433H	NM_001170738	NP_001164209	Q9UPP2	IQEC3_HUMAN	Homo sapiens IQ motif and Sec7 domain 3 (IQSEC3), transcript variant 1, mRNA.	736	SEC7.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		GAGGCCCTGCGCAAGTTCCAG	0.637000												
MLLT4	4301	broad.mit.edu	37	6	168312071	168312071	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:168312071T>C	uc021zik.1	+	14	2135	c.1816T>C	c.(1816-1818)Tcc>Ccc	p.S606P	MLLT4_uc003qwb.1_Missense_Mutation_p.S631P|MLLT4_uc003qwc.2_Missense_Mutation_p.S647P|MLLT4_uc021zij.1_Missense_Mutation_p.S631P|MLLT4_uc003qwf.3_Missense_Mutation_p.S332P|MLLT4_uc021zim.1_Missense_Mutation_p.S193P|MLLT4_uc003qwg.1_5'Flank	NM_001040000	NP_001035089	P55196	AFAD_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (MLLT4), transcript variant 2, mRNA.	647					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		GTATGTATTGTCCAACCAGTA	0.418000			T	MLL	AL							
NLRP1	22861	broad.mit.edu	37	17	5436264	5436264	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:5436264G>A	uc002gci.3	-	10	3729	c.3174C>T	c.(3172-3174)tgC>tgT	p.C1058C	NLRP1_uc002gcg.1_Silent_p.C1062C|NLRP1_uc002gch.4_Silent_p.C1058C|NLRP1_uc002gck.3_Silent_p.C1058C|NLRP1_uc002gcj.3_Silent_p.C1028C|NLRP1_uc002gcl.3_Silent_p.C1028C|NLRP1_uc010clh.3_Silent_p.C1058C	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	1058					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	NALP1 inflammasome complex|cytoplasm|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GAGAAGGCACGCACAAGAGTT	0.607000												
DDHD1	80821	broad.mit.edu	37	14	53525293	53525293	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:53525293G>A	uc001xai.3	-	8	2124	c.1894C>T	c.(1894-1896)Cgt>Tgt	p.R632C	DDHD1_uc001xaj.3_Missense_Mutation_p.R639C|DDHD1_uc001xah.3_Missense_Mutation_p.R632C|DDHD1_uc001xag.3_Missense_Mutation_p.R214C|DDHD1_uc001xak.1_Missense_Mutation_p.R28C	NM_001160148	NP_001153620	Q8NEL9	DDHD1_HUMAN	Homo sapiens DDHD domain containing 1 (DDHD1), transcript variant 3, mRNA.	632	DDHD.				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					CGGATGCCACGCAACGCCAAG	0.383000												
MYH4	4622	broad.mit.edu	37	17	10364241	10364241	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:10364241C>T	uc002gmn.3	-	11	1250	c.1139G>A	c.(1138-1140)gGc>gAc	p.G380D	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	380	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin 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						ACCTTCCGTGCCATCTGGCTC	0.478000												
SNRPB	6628	broad.mit.edu	37	20	2442418	2442418	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:2442418C>T	uc002wfz.1	-	6	870	c.707G>A	c.(706-708)cGc>cAc	p.R236H	SNRPB_uc002wga.1_3'UTR|SNRPB_uc010zpv.2_3'UTR|SNRPB_uc002wgb.3_3'UTR	NM_198216	NP_937859	P14678	RSMB_HUMAN	Homo sapiens small nuclear ribonucleoprotein polypeptides B and B1 (SNRPB), transcript variant 1, mRNA.	236	Repeat-rich region.				histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	U12-type spliceosomal complex|U7 snRNP|catalytic step 2 spliceosome|cytosol|nucleoplasm	RNA binding|protein binding	p.R236H(2)		kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	10						CCTTGGTGGGCGCATTCCCGG	0.542000												
ATCAY	85300	broad.mit.edu	37	19	3907775	3907775	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:3907775C>T	uc010xhz.2	+	5	903	c.420C>T	c.(418-420)agC>agT	p.S140S	ATCAY_uc002lyy.4_Silent_p.S134S|ATCAY_uc010dts.3_5'Flank			Q86WG3	ATCAY_HUMAN	Homo sapiens ataxia, cerebellar, Cayman type (ATCAY), mRNA.	134					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)		CCGGGGACAGCGCGGATCTAT	0.657000												
KNDC1	85442	broad.mit.edu	37	10	135010567	135010567	+	Silent	SNP	C	C	T	rs142706564	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:135010567C>T	uc001llz.1	+	10	1741	c.1740C>T	c.(1738-1740)tgC>tgT	p.C580C	KNDC1_uc001lma.1_Silent_p.C515C|KNDC1_uc001lmb.1_5'UTR	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA.	580	KIND 2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		TCCAGGTGTGCGGCAGCTACC	0.642000												
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139908009	139908009	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:139908009G>A	uc003lfs.2	+	28	5632	c.5478G>A	c.(5476-5478)caG>caA	p.Q1826Q	ANKHD1-EIF4EBP3_uc003lfr.3_Silent_p.Q1826Q|ANKHD1-EIF4EBP3_uc011czh.1_Silent_p.Q565Q|ANKHD1-EIF4EBP3_uc003lfw.3_Silent_p.Q464Q|ANKHD1-EIF4EBP3_uc010jfl.3_Silent_p.Q261Q|ANKHD1-EIF4EBP3_uc003lfx.1_5'UTR	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	Homo sapiens ANKHD1-EIF4EBP3 readthrough (ANKHD1-EIF4EBP3), mRNA.	1826						cytoplasm|nucleus	RNA binding			breast(1)|endometrium(8)|kidney(6)|large_intestine(14)|lung(17)|ovary(6)|prostate(2)|skin(1)|urinary_tract(2)	57			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTACGTTCCAGCCCGCTAATA	0.438000												
MICAL3	57553	broad.mit.edu	37	22	18368675	18368675	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:18368675G>A	uc002zng.4	-	15	2563	c.2210C>T	c.(2209-2211)gCg>gTg	p.A737V	MICAL3_uc011agl.2_Missense_Mutation_p.A737V|MICAL3_uc002znh.2_Missense_Mutation_p.A737V|MICAL3_uc002znj.1_Missense_Mutation_p.A437V|MICAL3_uc002znk.1_Missense_Mutation_p.A737V|MICAL3_uc002znl.1_Missense_Mutation_p.A370V|MICAL3_uc002znm.3_Missense_Mutation_p.A238V|MICAL3_uc010grf.3_Missense_Mutation_p.A737V	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 3 (MICAL3), transcript variant 1, mRNA.	737						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CTGTGCGGGCGCATTCTCTTC	0.547000												
TDRD7	23424	broad.mit.edu	37	9	100245401	100245401	+	Missense_Mutation	SNP	G	G	A	rs142868591		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:100245401G>A	uc004axj.3	+	14	2908	c.2683G>A	c.(2683-2685)Gct>Act	p.A895T	TDRD7_uc011lux.2_Missense_Mutation_p.A821T|TDRD7_uc010msp.1_Missense_Mutation_p.A147T|TDRD7_uc011luy.2_Missense_Mutation_p.A215T	NM_014290	NP_055105	Q8NHU6	TDRD7_HUMAN	Homo sapiens tudor domain containing 7 (TDRD7), mRNA.	895	Interacts with CABLES1 (By similarity).|Interacts with CDK17 (By similarity).				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				CCATACGAGCGCTTTCTCCAC	0.507000												
CHAF1A	10036	broad.mit.edu	37	19	4409428	4409428	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:4409428C>T	uc002mal.3	+	2	732	c.632C>T	c.(631-633)aCg>aTg	p.T211M		NM_005483	NP_005474	Q13111	CAF1A_HUMAN	Homo sapiens chromatin assembly factor 1, subunit A (p150) (CHAF1A), mRNA.	211	Binds to CBX1 chromo shadow domain.				DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|cell cycle|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGGAGCTGACGAGTGGCCCG	0.597000								Chromatin Structure				
C9orf131	138724	broad.mit.edu	37	9	35045333	35045333	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:35045333C>A	uc003zvw.3	+	1	2736	c.2707C>A	c.(2707-2709)Cca>Aca	p.P903T	C9orf131_uc003zvu.3_Missense_Mutation_p.P855T|C9orf131_uc003zvv.3_Missense_Mutation_p.P830T|C9orf131_uc003zvx.3_Missense_Mutation_p.P868T	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	Homo sapiens chromosome 9 open reading frame 131 (C9orf131), transcript variant 1, mRNA.	903								p.P903S(2)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			ATCCCAAGGGCCATGTGTACA	0.557000												
OR2D3	120775	broad.mit.edu	37	11	6942872	6942872	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:6942872G>A	uc010rav.2	+	0	640	c.640G>A	c.(640-642)Gcc>Acc	p.A214T		NM_001004684	NP_001004684	Q8NGH3	OR2D3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily D, member 3 (OR2D3), mRNA.	214					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CACAGAAATGGCCATCTTTTC	0.468000												
ZFHX4	79776	broad.mit.edu	37	8	77763597	77763597	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:77763597C>A	uc003yau.2	+	9	4827	c.4440C>A	c.(4438-4440)gaC>gaA	p.D1480E	ZFHX4_uc003yaw.1_Missense_Mutation_p.D1435E	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	1435						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCCAGGATGACCATGGCCTAG	0.507000										HNSCC(33;0.089)		
FADS2	9415	broad.mit.edu	37	11	61615676	61615676	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:61615676G>A	uc001nsl.1	+	4	814	c.664G>A	c.(664-666)Gcc>Acc	p.A222T	FADS2_uc001nsj.2_Missense_Mutation_p.A200T|FADS2_uc010rlo.1_Missense_Mutation_p.A191T|FADS2_uc001nsk.3_Missense_Mutation_p.A222T	NM_004265	NP_004256	O95864	FADS2_HUMAN	Homo sapiens fatty acid desaturase 2 (FADS2), mRNA.	222					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding			breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	CCAGCACCACGCCAAGCCTAA	0.582000												
SIRPG	55423	broad.mit.edu	37	20	1616842	1616842	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:1616842G>A	uc002wfm.1	-	2	805	c.740C>T	c.(739-741)gCc>gTc	p.A247V	SIRPG_uc002wfn.1_Missense_Mutation_p.A247V|SIRPG_uc002wfo.1_Intron|AK093519_uc002wfp.1_Intron	NM_018556	NP_061026	Q9P1W8	SIRPG_HUMAN	Homo sapiens signal-regulatory protein gamma (SIRPG), transcript variant 1, mRNA.	247					blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of T cell activation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						ACCTCGGATGGCCTCAGACAA	0.627000												
ABTB1	80325	broad.mit.edu	37	3	127396374	127396374	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:127396374C>T	uc003ejt.3	+	8	917	c.829C>T	c.(829-831)Cga>Tga	p.R277*	ABTB1_uc003ejr.3_Nonsense_Mutation_p.R135*|ABTB1_uc003ejs.3_Nonsense_Mutation_p.R252*|ABTB1_uc003eju.3_Nonsense_Mutation_p.R135*|ABTB1_uc010hsm.3_Intron	NM_172027	NP_742024	Q969K4	ABTB1_HUMAN	Homo sapiens ankyrin repeat and BTB (POZ) domain containing 1 (ABTB1), transcript variant 2, mRNA.	277	BTB 2.					cytoplasm|nucleolus|plasma membrane	translation elongation factor activity	p.F276F(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						CATCTGCTTCCGAGTGGCTGG	0.632000												
EXOC3	11336	broad.mit.edu	37	5	453727	453727	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:453727C>T	uc003jba.3	+	3	735	c.607C>T	c.(607-609)Cgc>Tgc	p.R203C		NM_007277	NP_009208	O60645	EXOC3_HUMAN	Homo sapiens exocyst complex component 3 (EXOC3), mRNA.	214					exocytosis|protein transport					breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GGTCACTGTCCGCCGTGACCC	0.537000												
VPS13D	55187	broad.mit.edu	37	1	12422824	12422824	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:12422824T>C	uc001atv.3	+	50	10331	c.10190T>C	c.(10189-10191)gTc>gCc	p.V3397A	VPS13D_uc001atw.3_Missense_Mutation_p.V3372A|VPS13D_uc001atx.3_Missense_Mutation_p.V2584A	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	3396					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ACCTGCATGGTCATCTTTGCC	0.423000												
HSD11B2	3291	broad.mit.edu	37	16	67470767	67470767	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:67470767G>A	uc002etd.3	+	4	1195	c.1079G>A	c.(1078-1080)cGc>cAc	p.R360H		NM_000196	NP_000187	P80365	DHI2_HUMAN	Homo sapiens hydroxysteroid (11-beta) dehydrogenase 2 (HSD11B2), mRNA.	360					glucocorticoid biosynthetic process	endoplasmic reticulum|microsome				breast(1)|endometrium(1)|liver(2)|lung(3)|upper_aerodigestive_tract(1)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0401)|Epithelial(162;0.0891)	NADH(DB00157)	GGCCTGCGGCGCCGCTTCCTG	0.667000												
BAZ1A	11177	broad.mit.edu	37	14	35240741	35240741	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:35240741G>A	uc001wsk.3	-	20	3845	c.3277C>T	c.(3277-3279)Cgg>Tgg	p.R1093W	BAZ1A_uc001wsl.3_Missense_Mutation_p.R1061W	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 1A (BAZ1A), transcript variant 1, mRNA.	1093					chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		AGAAAACGCCGCTCAATGCCC	0.368000												
HOXB1	3211	broad.mit.edu	37	17	46607897	46607897	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:46607897A>G	uc002ink.1	-	0	376	c.370T>C	c.(370-372)Tcc>Ccc	p.S124P	HOXB1_uc021tzf.1_Missense_Mutation_p.S124P	NM_002144	NP_002135	P14653	HXB1_HUMAN	Homo sapiens homeobox B1 (HOXB1), mRNA.	124						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TAGCCATCGGACAAGCCCCCT	0.627000												
PPP1CB	5500	broad.mit.edu	37	2	29016803	29016803	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:29016803C>T	uc002rmg.3	+	7	979	c.819C>T	c.(817-819)ggC>ggT	p.G273G	PPP1CB_uc010ymj.2_Silent_p.G245G|PPP1CB_uc010yml.2_Silent_p.G245G|PPP1CB_uc002rmh.3_Silent_p.G273G|SPDYA_uc002rmi.3_5'UTR	NM_206876	NP_996759	P62140	PP1B_HUMAN	Homo sapiens protein phosphatase 1, catalytic subunit, beta isozyme (PPP1CB), transcript variant 3, mRNA.	273					cell cycle|cell division|glycogen metabolic process|triglyceride catabolic process	MLL5-L complex|PTW/PP1 phosphatase complex|nucleolus	metal ion binding|myosin phosphatase activity|myosin-light-chain-phosphatase activity|protein binding			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					ATTACTGTGGCGAGTTTGATA	0.348000												
CBLN1	869	broad.mit.edu	37	16	49315138	49315138	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:49315138C>T	uc002efq.3	-	0	605	c.239G>A	c.(238-240)cGc>cAc	p.R80H		NM_004352	NP_004343	P23435	CBLN1_HUMAN	Homo sapiens cerebellin 1 precursor (CBLN1), mRNA.	80	C1q.|Necessary for interaction with CBLN3, and homotrimerization (By similarity).				nervous system development|synaptic transmission	cell junction|extracellular region|synapse		p.R80H(2)		breast(1)|kidney(3)|large_intestine(2)|lung(3)	9		all_cancers(37;0.0766)|all_lung(18;0.24)				GATCATGGTGCGATTACTCAT	0.607000												
UBE4B	10277	broad.mit.edu	37	1	10197233	10197233	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:10197233G>A	uc021ogc.1	+	17	3174	c.2486G>A	c.(2485-2487)cGc>cAc	p.R829H	UBE4B_uc001aqs.4_Missense_Mutation_p.R778H|UBE4B_uc001aqr.4_Missense_Mutation_p.R649H|UBE4B_uc010oai.2_Non-coding_Transcript|UBE4B_uc010oaj.2_Missense_Mutation_p.R233H	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	Homo sapiens ubiquitination factor E4B (UBE4B), transcript variant 1, mRNA.	778					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		CGCTATATCCGCAGACTCCGG	0.527000												
OGDH	4967	broad.mit.edu	37	7	44714124	44714124	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:44714124C>T	uc003tln.3	+	6	1062	c.903C>T	c.(901-903)ggC>ggT	p.G301G	OGDH_uc003tlm.3_Silent_p.G301G|OGDH_uc011kbx.2_Silent_p.G297G|OGDH_uc011kby.2_Silent_p.G151G|OGDH_uc003tlp.3_Silent_p.G312G|OGDH_uc011kbz.2_Silent_p.G96G|OGDH_uc003tlo.1_Silent_p.G134G	NM_002541	NP_002532	Q02218	ODO1_HUMAN	Homo sapiens oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) (OGDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	301					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	GTGAGAATGGCGTGGACTACG	0.562000												
CHD6	84181	broad.mit.edu	37	20	40120415	40120415	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:40120415G>A	uc002xka.1	-	10	1537	c.1359C>T	c.(1357-1359)cgC>cgT	p.R453R	CHD6_uc002xkd.2_Silent_p.R431R	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	453					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TCTTATACTCGCGAGACTTCT	0.468000												
NLN	57486	broad.mit.edu	37	5	65118709	65118709	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:65118709C>T	uc003juf.3	+	12	2259	c.2081C>T	c.(2080-2082)gCg>gTg	p.A694V	NLN_uc010iww.3_Missense_Mutation_p.A371V	NM_020726	NP_065777	Q9BYT8	NEUL_HUMAN	Homo sapiens neurolysin (metallopeptidase M3 family) (NLN), nuclear gene encoding mitochondrial protein, mRNA.	694					proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity	p.K693fs*6(1)		central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		AACCAAAAAGCGTTCCTAATG	0.493000												
KLHL9	55958	broad.mit.edu	37	9	21333437	21333437	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:21333437C>T	uc003zoy.3	-	0	1993	c.1422G>A	c.(1420-1422)atG>atA	p.M474I	KLHL9_uc003zow.3_Intron|KLHL9_uc003zox.3_Non-coding_Transcript	NM_018847	NP_061335	Q9P2J3	KLHL9_HUMAN	Homo sapiens kelch-like 9 (Drosophila) (KLHL9), mRNA.	474					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody				endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		GAGCCTTTTGCATCCATTTAT	0.413000												
PARVB	29780	broad.mit.edu	37	22	44543773	44543773	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:44543773G>A	uc003bem.3	+	9	974	c.844G>A	c.(844-846)Gcc>Acc	p.A282T	PARVB_uc003ben.3_Missense_Mutation_p.A249T|PARVB_uc010gzn.3_Missense_Mutation_p.A197T|PARVB_uc003beo.3_Missense_Mutation_p.A212T|TRNA_SeC_uc021wqz.1_5'Flank	NM_001003828	NP_001003828	Q9HBI1	PARVB_HUMAN	Homo sapiens parvin, beta (PARVB), transcript variant 1, mRNA.	249	CH 2.				cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding			NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				GTTCGACCACGCCCCGGATAA	0.582000												
HEATR2	54919	broad.mit.edu	37	7	796464	796464	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:796464G>A	uc010krz.1	+	5	1323	c.1303G>A	c.(1303-1305)Gtg>Atg	p.V435M	HEATR2_uc003siz.2_Missense_Mutation_p.V303M	NM_017802	NP_060272	Q86Y56	HEAT2_HUMAN	Homo sapiens HEAT repeat containing 2 (HEATR2), mRNA.	435							protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		CAGCCCTGAGGTGTTTCTGAA	0.602000												
LHX9	56956	broad.mit.edu	37	1	197889133	197889133	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:197889133C>T	uc001guk.1	+	1	643	c.206C>T	c.(205-207)gCc>gTc	p.A69V	LHX9_uc001gui.1_Missense_Mutation_p.A60V	NM_020204	NP_064589	Q9NQ69	LHX9_HUMAN	Homo sapiens LIM homeobox 9 (LHX9), transcript variant 1, mRNA.	69	LIM zinc-binding 1.				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						GAGAAGCCCGCCCTGTGCGCC	0.642000												
KCNN3	3782	broad.mit.edu	37	1	154698441	154698441	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:154698441G>A	uc021pah.1	-	5	2011	c.1697C>T	c.(1696-1698)gCg>gTg	p.A566V	KCNN3_uc001ffo.3_Missense_Mutation_p.A246V|KCNN3_uc001ffp.3_Missense_Mutation_p.A551V	NM_001204087	NP_001191016	Q9UGI6	KCNN3_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 (KCNN3), transcript variant 3, mRNA.	556	Calmodulin-binding (By similarity).					integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			GTGCTTCTCCGCTTTGGTGAG	0.567000												
FAM47C	442444	broad.mit.edu	37	X	37028757	37028757	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:37028757C>T	uc004ddl.2	+	0	2326	c.2274C>T	c.(2272-2274)cgC>cgT	p.R758R		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	758								p.R758R(3)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TTGAGACTCGCGTATCTCATC	0.632000												
DHX38	9785	broad.mit.edu	37	16	72138392	72138392	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:72138392C>T	uc002fcb.3	+	14	2373	c.2018C>T	c.(2017-2019)gCt>gTt	p.A673V	DHX38_uc010vmp.2_Intron	NM_014003	NP_054722	Q92620	PRP16_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 38 (DHX38), mRNA.	673	Helicase ATP-binding.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				CAGGTAGTGGCTCGGCGCTCA	0.607000												
MFI2	4241	broad.mit.edu	37	3	196736624	196736624	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:196736624C>T	uc003fxk.4	-	10	1504	c.1390G>A	c.(1390-1392)Gcc>Acc	p.A464T		NM_005929	NP_005920	P08582	TRFM_HUMAN	Homo sapiens antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5 (MFI2), transcript variant 1, mRNA.	464	Transferrin-like 2.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		AAGGTGAAGGCGTGGGAGCTG	0.647000												
KIF16B	55614	broad.mit.edu	37	20	16360543	16360543	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:16360543A>G	uc002wpg.2	-	18	2263	c.2104T>C	c.(2104-2106)Ttt>Ctt	p.F702L	KIF16B_uc002wpe.1_Missense_Mutation_p.F84L|KIF16B_uc002wpf.1_Missense_Mutation_p.F84L|KIF16B_uc010gch.2_Missense_Mutation_p.F702L|KIF16B_uc010gci.2_Missense_Mutation_p.F702L|KIF16B_uc010gcj.2_Missense_Mutation_p.F713L	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	Homo sapiens kinesin family member 16B (KIF16B), transcript variant 2, mRNA.	702	Glu-rich.				Golgi to endosome transport|cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						ACGCGGAGAAAGGTCTCTTCT	0.448000												
IBTK	25998	broad.mit.edu	37	6	82933304	82933304	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:82933304A>G	uc003pjl.1	-	7	1504	c.977T>C	c.(976-978)gTa>gCa	p.V326A	IBTK_uc011dyv.1_Missense_Mutation_p.V326A|IBTK_uc011dyw.1_Missense_Mutation_p.V326A|IBTK_uc010kbi.1_Missense_Mutation_p.V20A|IBTK_uc003pjm.2_Missense_Mutation_p.V326A	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN	Homo sapiens inhibitor of Bruton agammaglobulinemia tyrosine kinase (IBTK), mRNA.	326					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)		AGGAGCAGTTACACACTTTTC	0.418000												
ZNF333	84449	broad.mit.edu	37	19	14815942	14815942	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:14815942G>A	uc002mzn.3	+	5	517	c.383G>A	c.(382-384)cGg>cAg	p.R128Q	ZNF333_uc010dzq.2_Missense_Mutation_p.R128Q|ZNF333_uc002mzk.4_Missense_Mutation_p.R19Q|ZNF333_uc002mzl.3_Missense_Mutation_p.R128Q|ZNF333_uc010dzr.1_Non-coding_Transcript	NM_032433	NP_115809	Q96JL9	ZN333_HUMAN	Homo sapiens zinc finger protein 333 (ZNF333), mRNA.	128					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						CGAGAGGACCGGCCAGCTCTC	0.617000												
OR10C1	442194	broad.mit.edu	37	6	29408113	29408113	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:29408113C>T	uc011dlp.2	+	0	398	c.321C>T	c.(319-321)ggC>ggT	p.G107G	OR11A1_uc010jrh.1_Intron	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily C, member 1 (OR10C1), mRNA.	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TCTTCTTTGGCGCCACGGAGT	0.612000												
ADAM21	8747	broad.mit.edu	37	14	70925992	70925992	+	Silent	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:70925992T>C	uc021rvq.1	+	0	1776	c.1776T>C	c.(1774-1776)ggT>ggC	p.G592G	ADAM21_uc001xmd.3_Silent_p.G592G	NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	Homo sapiens ADAM metallopeptidase domain 21 (ADAM21), mRNA.	592	Cys-rich.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CCTGCTGGGGTATTGACTATC	0.418000												
SEC23B	10483	broad.mit.edu	37	20	18535003	18535003	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:18535003G>A	uc002wra.2	+	17	2578	c.2117G>A	c.(2116-2118)cGt>cAt	p.R706H	SEC23B_uc010zsb.2_Missense_Mutation_p.R688H|SEC23B_uc002wrb.2_Missense_Mutation_p.R706H|SEC23B_uc002wqz.2_Missense_Mutation_p.R706H|SEC23B_uc002wrc.2_Missense_Mutation_p.R706H	NM_032985	NP_116781	Q15437	SC23B_HUMAN	Homo sapiens Sec23 homolog B (S. cerevisiae) (SEC23B), transcript variant 2, mRNA.	706					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						CCGATGCCACGTTACATCAAC	0.473000												
C7orf29	113763	broad.mit.edu	37	7	150027622	150027622	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:150027622C>T	uc003wgy.3	+	0	685	c.129C>T	c.(127-129)ggC>ggT	p.G43G	LRRC61_uc003wgv.3_Intron|LRRC61_uc003wgx.3_Intron|LRRC61_uc003wgw.3_Intron	NM_138434	NP_612443	Q96FA7	CG029_HUMAN	Homo sapiens chromosome 7 open reading frame 29 (C7orf29), mRNA.	43										endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9			OV - Ovarian serous cystadenocarcinoma(82;0.011)			GGGAGAGGGGCGCAGCCATCC	0.627000												
KIAA0020	9933	broad.mit.edu	37	9	2829854	2829854	+	Missense_Mutation	SNP	C	C	T	rs62534389		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:2829854C>T	uc003zhp.1	-	7	868	c.772G>A	c.(772-774)Gca>Aca	p.A258T	KIAA0020_uc003zhq.1_Missense_Mutation_p.A257T	NM_014878	NP_055693	Q15397	K0020_HUMAN	Homo sapiens KIAA0020 (KIAA0020), mRNA.	258	PUM-HD.					endoplasmic reticulum|nucleolus	RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		TCATTGTATGCGTACTCCACG	0.458000												
HS2ST1	9653	broad.mit.edu	37	1	87538675	87538675	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:87538675C>T	uc010osk.2	+	1	568	c.183C>T	c.(181-183)ggC>ggT	p.G61G	HS2ST1_uc001dmc.4_Silent_p.G61G|HS2ST1_uc001dme.2_Silent_p.G22G	NM_012262	NP_036394	Q7LGA3	HS2ST_HUMAN	Homo sapiens heparan sulfate 2-O-sulfotransferase 1 (HS2ST1), transcript variant 1, mRNA.	61						Golgi membrane|integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)	9		Lung NSC(277;0.153)		all cancers(265;0.00699)|Epithelial(280;0.0261)		CAATGGATGGCCCTCGGCAAG	0.428000												
CRB2	286204	broad.mit.edu	37	9	126133829	126133829	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:126133829C>T	uc004bnx.1	+	7	2500	c.2408C>T	c.(2407-2409)gCg>gTg	p.A803V	CRB2_uc004bnw.1_Missense_Mutation_p.A803V	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	Homo sapiens crumbs homolog 2 (Drosophila) (CRB2), mRNA.	803	Laminin G-like 2.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						AACCTCACTGCGGGCTGCGTC	0.632000												
THAP9	79725	broad.mit.edu	37	4	83838899	83838899	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:83838899C>T	uc003hnt.2	+	4	1653	c.1534C>T	c.(1534-1536)Cgt>Tgt	p.R512C	THAP9_uc003hns.1_Missense_Mutation_p.R368C|THAP9_uc003hnu.1_Non-coding_Transcript|THAP9_uc003hnv.2_Missense_Mutation_p.R229C	NM_024672	NP_078948	Q9H5L6	THAP9_HUMAN	Homo sapiens THAP domain containing 9 (THAP9), mRNA.	512							DNA binding|metal ion binding	p.L511fs*5(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				CCATTTTTTACGTTTAATTAA	0.363000												
CABIN1	23523	broad.mit.edu	37	22	24567727	24567727	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:24567727G>A	uc002zzi.1	+	33	5931	c.5804G>A	c.(5803-5805)cGa>cAa	p.R1935Q	CABIN1_uc021wnc.1_Missense_Mutation_p.R1885Q|CABIN1_uc002zzj.1_Missense_Mutation_p.R1856Q|CABIN1_uc002zzl.2_Missense_Mutation_p.R1935Q|CABIN1_uc010gul.1_5'UTR	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA.	1935					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AAAGACAGCCGAGAGAACTTC	0.622000												
KIF21A	55605	broad.mit.edu	37	12	39716590	39716590	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:39716590C>T	uc001rly.3	-	26	3971	c.3551G>A	c.(3550-3552)gGc>gAc	p.G1184D	KIF21A_uc001rlv.3_Missense_Mutation_p.G189D|KIF21A_uc001rlw.3_Missense_Mutation_p.G501D|KIF21A_uc001rlx.3_Missense_Mutation_p.G1171D|KIF21A_uc001rlz.3_Missense_Mutation_p.G1148D|KIF21A_uc010skl.2_Missense_Mutation_p.G1164D	NM_001173464	NP_001166935	Q7Z4S6	KI21A_HUMAN	Homo sapiens kinesin family member 21A (KIF21A), transcript variant 1, mRNA.	1184					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TGTGAGAGGGCCAGGCAAGGA	0.507000												
JAKMIP3	282973	broad.mit.edu	37	10	133954021	133954021	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:133954021G>A	uc001lkx.4	+	8	1411	c.1411G>A	c.(1411-1413)Gtc>Atc	p.V471I		NM_001105521	NP_001098991			Homo sapiens Janus kinase and microtubule interacting protein 3 (JAKMIP3), mRNA.											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CGGCTCCTCCGTCTCTTACCA	0.587000												
EXTL1	2134	broad.mit.edu	37	1	26361326	26361326	+	Splice_Site	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:26361326G>T	uc001blf.3	+	10	2547	c.1680_splice	c.e10-1	p.R560_splice		NM_004455	NP_004446	Q92935	EXTL1_HUMAN	Homo sapiens exostoses (multiple)-like 1 (EXTL1), mRNA.	560					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		CTCTTGCCCAGGTATTACCAC	0.577000												
WRNIP1	56897	broad.mit.edu	37	6	2785298	2785298	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:2785298T>C	uc003mtz.3	+	6	1971	c.1780T>C	c.(1780-1782)Tac>Cac	p.Y594H	WRNIP1_uc003mua.3_Missense_Mutation_p.Y569H	NM_020135	NP_064520	Q96S55	WRIP1_HUMAN	Homo sapiens Werner helicase interacting protein 1 (WRNIP1), transcript variant 1, mRNA.	594					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding	p.V593M(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				CATTGAGGTGTACAGCGCCTA	0.567000												
GCA	25801	broad.mit.edu	37	2	163204223	163204223	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:163204223T>A	uc002ucg.3	+	1	339	c.163T>A	c.(163-165)Tat>Aat	p.Y55N		NM_012198	NP_036330	P28676	GRAN_HUMAN	Homo sapiens grancalcin, EF-hand calcium binding protein (GCA), mRNA.	55	EF-hand 1.				cellular membrane fusion	cytoplasm|plasma membrane	calcium ion binding|protein homodimerization activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	9						TGACTCCGTGTATACTTACTT	0.418000												
ZHX3	23051	broad.mit.edu	37	20	39831218	39831218	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:39831218C>T	uc010ggg.1	-	0	2489	c.2339G>A	c.(2338-2340)cGg>cAg	p.R780Q	ZHX3_uc002xjr.1_Missense_Mutation_p.R780Q|ZHX3_uc002xjs.1_Missense_Mutation_p.R780Q|ZHX3_uc002xjt.1_Missense_Mutation_p.R780Q|ZHX3_uc002xju.1_Missense_Mutation_p.R780Q|ZHX3_uc002xjv.1_Missense_Mutation_p.R780Q|ZHX3_uc002xjw.1_Missense_Mutation_p.R780Q	NM_015035	NP_055850	Q9H4I2	ZHX3_HUMAN	Homo sapiens zinc fingers and homeoboxes 3 (ZHX3), mRNA.	780					negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				AAAGAGCTGCCGCAGCAAGTG	0.587000												
ATP9B	374868	broad.mit.edu	37	18	77037168	77037168	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:77037168C>T	uc002lmx.3	+	12	1397	c.1383C>T	c.(1381-1383)cgC>cgT	p.R461R	ATP9B_uc002lmv.1_Non-coding_Transcript|ATP9B_uc002lmw.1_Silent_p.R461R|ATP9B_uc002lmy.1_Non-coding_Transcript|ATP9B_uc002lmz.1_Silent_p.R155R	NM_198531	NP_940933	O43861	ATP9B_HUMAN	Homo sapiens ATPase, class II, type 9B (ATP9B), mRNA.	461					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		AACTTGGGCGCCTGGTGTATT	0.448000												
KCTD3	51133	broad.mit.edu	37	1	215793881	215793881	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:215793881C>T	uc001hks.3	+	17	2663	c.2369C>T	c.(2368-2370)gCg>gTg	p.A790V	KCTD3_uc001hkt.3_Missense_Mutation_p.A788V|KCTD3_uc010pub.2_Missense_Mutation_p.A688V|KCTD3_uc009xdn.3_Missense_Mutation_p.A514V	NM_016121	NP_057205	Q9Y597	KCTD3_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 3 (KCTD3), mRNA.	790						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		CCTGGTACTGCGTCCCCATCT	0.463000												
PCDHGC5	56097	broad.mit.edu	37	5	140784685	140784685	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:140784685G>A	uc003lkh.2	+	0	2166	c.2166G>A	c.(2164-2166)tcG>tcA	p.S722S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc011dax.2_Silent_p.S722S	NM_018921	NP_061744	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 9 (PCDHGA9), transcript variant 1, mRNA.	714					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCACTCCTCGCATCTGCTGC	0.577000												
PLCL1	5334	broad.mit.edu	37	2	198950276	198950276	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:198950276G>A	uc010fsp.3	+	1	2433	c.2035G>A	c.(2035-2037)Gac>Aac	p.D679N	PLCL1_uc002uuv.4_Missense_Mutation_p.D600N	NM_006226	NP_006217	Q15111	PLCL1_HUMAN	Homo sapiens phospholipase C-like 1 (PLCL1), mRNA.	679	PI-PLC Y-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	TCCAATGATGGACCTTCACAC	0.443000												
XIRP2	129446	broad.mit.edu	37	2	168107993	168107993	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:168107993T>C	uc002udx.3	+	8	10180	c.10091T>C	c.(10090-10092)aTa>aCa	p.I3364T	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.I3189T|XIRP2_uc010fpq.3_Missense_Mutation_p.I3142T|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	3189					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AACCATAACATACAACAAGAA	0.358000												
PLEKHG1	57480	broad.mit.edu	37	6	151130348	151130348	+	Silent	SNP	G	G	A	rs147935723	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:151130348G>A	uc011eem.1	+	7	1285	c.1197G>A	c.(1195-1197)acG>acA	p.T399T	PLEKHG1_uc011eel.1_Silent_p.T380T|PLEKHG1_uc003qny.1_Silent_p.T340T|PLEKHG1_uc003qnz.2_Silent_p.T340T	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 1 (PLEKHG1), mRNA.	340	PH.				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)		ATGAGCGGACGCTCTTCCTCT	0.552000												
SMURF1	57154	broad.mit.edu	37	7	98655043	98655043	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:98655043C>T	uc003upu.2	-	3	675	c.335G>A	c.(334-336)gGa>gAa	p.G112E	SMURF1_uc003upv.2_Missense_Mutation_p.G112E|SMURF1_uc003upt.3_Missense_Mutation_p.G112E	NM_020429	NP_065162	Q9HCE7	SMUF1_HUMAN	Homo sapiens SMAD specific E3 ubiquitin protein ligase 1 (SMURF1), transcript variant 1, mRNA.	112					BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	I-SMAD binding|R-SMAD binding|activin binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			GTTCTTACATCCGGTATCTTT	0.453000												
CNTNAP2	26047	broad.mit.edu	37	7	147336252	147336252	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:147336252T>C	uc003weu.2	+	12	2468	c.1952T>C	c.(1951-1953)gTc>gCc	p.V651A		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	651	Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.V651V(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ACGCCTGTGGTCGGCTACAAC	0.507000										HNSCC(39;0.1)		
APC2	10297	broad.mit.edu	37	19	1460307	1460307	+	Silent	SNP	C	C	T	rs150932990		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:1460307C>T	uc002lsr.1	+	10	1639	c.1431C>T	c.(1429-1431)gaC>gaT	p.D477D	APC2_uc002lss.1_Silent_p.D59D|APC2_uc002lst.1_Silent_p.D477D|APC2_uc002lsu.1_Silent_p.D476D	NM_005883	NP_005874	O95996	APC2_HUMAN	Homo sapiens adenomatosis polyposis coli 2 (APC2), mRNA.	477					Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus	Golgi membrane|actin filament|catenin complex|cytoplasmic microtubule|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTTTGGGGACGTTGCCAACA	0.617000												
NCOA5	57727	broad.mit.edu	37	20	44695817	44695817	+	Missense_Mutation	SNP	C	C	T	rs138863222	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:44695817C>T	uc002xrd.3	-	3	1034	c.506G>A	c.(505-507)cGt>cAt	p.R169H	NCOA5_uc002xrc.3_Missense_Mutation_p.R57H|NCOA5_uc002xre.3_Missense_Mutation_p.R169H	NM_020967	NP_066018	Q9HCD5	NCOA5_HUMAN	Homo sapiens nuclear receptor coactivator 5 (NCOA5), mRNA.	169					regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	ATP binding|aminoacyl-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				ACGTTTCAAACGCTCTGCAAA	0.433000												
SQSTM1	8878	broad.mit.edu	37	5	179250014	179250014	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:179250014T>C	uc003mkw.4	+	1	357	c.262T>C	c.(262-264)Tcc>Ccc	p.S88P	SQSTM1_uc011dgr.2_Missense_Mutation_p.S4P|SQSTM1_uc011dgs.2_Missense_Mutation_p.S4P|SQSTM1_uc003mkx.3_Missense_Mutation_p.S4P	NM_003900	NP_003891	Q13501	SQSTM_HUMAN	Homo sapiens sequestosome 1 (SQSTM1), transcript variant 1, mRNA.	88	Interaction with PRKCZ and dimerization (By similarity).|OPR.				anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	SH2 domain binding|protein kinase C binding|receptor tyrosine kinase binding|ubiquitin binding|zinc ion binding		SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AATGGCCATGTCCTACGTGAA	0.512000												
BIN2	51411	broad.mit.edu	37	12	51693445	51693445	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:51693445G>A	uc001ryg.3	-	5	514	c.462C>T	c.(460-462)caC>caT	p.H154H	BIN2_uc009zlz.3_Silent_p.H122H|BIN2_uc001ryh.3_Silent_p.H30H|BIN2_uc010sng.2_Silent_p.H128H	NM_016293	NP_057377	Q9UBW5	BIN2_HUMAN	Homo sapiens bridging integrator 2 (BIN2), mRNA.	154	BAR.					cytoplasm	protein binding	p.R153R(1)		NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						CCTCCAGGTGGTGTCGGGCAC	0.488000												
MC5R	4161	broad.mit.edu	37	18	13826231	13826231	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:13826231C>T	uc010xaf.2	+	0	689	c.467C>T	c.(466-468)gCg>gTg	p.A156V		NM_005913	NP_005904	P33032	MC5R_HUMAN	Homo sapiens melanocortin 5 receptor (MC5R), mRNA.	156					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						ATCATGACGGCGAGGCGCTCA	0.577000												
CAP2	10486	broad.mit.edu	37	6	17421836	17421836	+	Missense_Mutation	SNP	G	G	A	rs141863829		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:17421836G>A	uc003ncb.3	+	1	293	c.50G>A	c.(49-51)cGc>cAc	p.R17H	CAP2_uc010jpk.1_Non-coding_Transcript|CAP2_uc011dja.2_Missense_Mutation_p.R17H|CAP2_uc011djb.2_Missense_Mutation_p.R17H|CAP2_uc011djc.2_Missense_Mutation_p.R17H|CAP2_uc011djd.2_Missense_Mutation_p.R17H	NM_006366	NP_006357	P40123	CAP2_HUMAN	Homo sapiens CAP, adenylate cyclase-associated protein, 2 (yeast) (CAP2), mRNA.	17					activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding	p.S16G(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			GCTGTCAGCCGCCTGGAGTCG	0.567000												
STXBP5L	9515	broad.mit.edu	37	3	120957879	120957879	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:120957879G>A	uc003eec.4	+	12	1386	c.1246G>A	c.(1246-1248)Gca>Aca	p.A416T	STXBP5L_uc011bji.2_Missense_Mutation_p.A416T	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	416					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TACATGCACAGCATACTTTGC	0.318000												
RCN3	57333	broad.mit.edu	37	19	50040306	50040306	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:50040306C>T	uc002poj.3	+	3	909	c.462C>T	c.(460-462)gaC>gaT	p.D154D	TRNA_Lys_uc021uxn.1_5'Flank	NM_020650	NP_065701	Q96D15	RCN3_HUMAN	Homo sapiens reticulocalbin 3, EF-hand calcium binding domain (RCN3), mRNA.	154						endoplasmic reticulum lumen	calcium ion binding|protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)		AATTTCATGACGTGGAGGATG	0.527000												
WDR41	55255	broad.mit.edu	37	5	76729078	76729078	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:76729078G>A	uc003kff.1	-	12	1549	c.1262C>T	c.(1261-1263)aCg>aTg	p.T421M	WDR41_uc011csy.1_Missense_Mutation_p.T363M|WDR41_uc011csz.1_Missense_Mutation_p.T366M	NM_018268	NP_060738	Q9HAD4	WDR41_HUMAN	Homo sapiens WD repeat domain 41 (WDR41), mRNA.	421								p.T421T(1)		NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)	14		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)		AGCGGAGCACGTCACTAGTCC	0.368000												
TMEM132B	114795	broad.mit.edu	37	12	126138478	126138478	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:126138478G>A	uc001uhe.1	+	8	2467	c.2459G>A	c.(2458-2460)cGc>cAc	p.R820H	TMEM132B_uc001uhf.1_Missense_Mutation_p.R332H	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	820						integral to membrane		p.R820C(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TCCATAGAGCGCGAAGGAAAC	0.498000												
DHX34	9704	broad.mit.edu	37	19	47884536	47884536	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:47884536G>A	uc010xyn.2	+	15	3602	c.3253G>A	c.(3253-3255)Gcc>Acc	p.A1085T	DHX34_uc010xyo.1_Missense_Mutation_p.A214T	NM_014681	NP_055496	Q14147	DHX34_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 34 (DHX34), mRNA.	1085						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		GGAGCGCATCGCCCATGAGAA	0.672000												
MN1	4330	broad.mit.edu	37	22	28194145	28194145	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:28194145C>T	uc003adj.3	-	0	3342	c.2387G>A	c.(2386-2388)cGc>cAc	p.R796H		NM_002430	NP_002421	Q10571	MN1_HUMAN	Homo sapiens meningioma (disrupted in balanced translocation) 1 (MN1), mRNA.	796							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						GGCCGAGGTGCGCTGGCTGGG	0.701000			T	ETV6	"""AML, meningioma"""							
KSR2	283455	broad.mit.edu	37	12	118105353	118105353	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:118105353C>T	uc001two.2	-	4	1065	c.1010G>A	c.(1009-1011)cGc>cAc	p.R337H		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	366					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AAAGAAGGAGCGGAGGGAGCG	0.602000												
FEM1A	55527	broad.mit.edu	37	19	4792951	4792951	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:4792951C>T	uc002mbf.3	+	0	1224	c.1085C>T	c.(1084-1086)gCg>gTg	p.A362V	AK126532_uc002mbg.1_Non-coding_Transcript	NM_018708	NP_061178	Q9BSK4	FEM1A_HUMAN	Homo sapiens fem-1 homolog a (C. elegans) (FEM1A), mRNA.	362					regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GAGCTGGAGGCGCTGATCACC	0.632000												
NUP210L	91181	broad.mit.edu	37	1	154125256	154125256	+	Missense_Mutation	SNP	G	G	A	rs150389273	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:154125256G>A	uc001fdw.3	-	1	368	c.296C>T	c.(295-297)aCg>aTg	p.T99M	NUP210L_uc010peh.2_Missense_Mutation_p.T99M	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	99						integral to membrane		p.T99T(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TATCGGTTGCGTAGATTCAGC	0.423000												
PDE11A	50940	broad.mit.edu	37	2	178879125	178879125	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:178879125G>A	uc002ulq.3	-	1	1293	c.975C>T	c.(973-975)tgC>tgT	p.C325C	PDE11A_uc002ulr.3_Silent_p.C75C|PDE11A_uc002ult.1_Silent_p.C75C	NM_016953	NP_001070664	Q9HCR9	PDE11_HUMAN	Homo sapiens phosphodiesterase 11A (PDE11A), transcript variant 4, mRNA.	325	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			GGATAGGCATGCACAATAATG	0.378000									Primary Pigmented Nodular Adrenocortical Disease, Familial			
PKD2L1	9033	broad.mit.edu	37	10	102054822	102054822	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:102054822C>T	uc001kqx.1	-	7	1798	c.1415G>A	c.(1414-1416)cGc>cAc	p.R472H	PKD2L1_uc009xwm.1_Missense_Mutation_p.R425H	NM_016112	NP_057196	Q9P0L9	PK2L1_HUMAN	Homo sapiens polycystic kidney disease 2-like 1 (PKD2L1), transcript variant 1, mRNA.	472					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		CTTGGCACAGCGGGCCAGCGT	0.512000												
ACVR1	90	broad.mit.edu	37	2	158626897	158626897	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:158626897C>A	uc002tzn.3	-	6	1203	c.773G>T	c.(772-774)aGg>aTg	p.R258M	ACVR1_uc002tzm.3_Missense_Mutation_p.R258M|ACVR1_uc010fog.2_Missense_Mutation_p.R258M	NM_001105	NP_001104537	Q04771	ACVR1_HUMAN	Homo sapiens activin A receptor, type I (ACVR1), transcript variant 1, mRNA.	258	Protein kinase.				BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	ATP binding|SMAD binding|activin binding|follistatin binding|metal ion binding|protein homodimerization activity|transforming growth factor beta binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	ATTTTCATGCCTCAGCATCAC	0.453000												
ERBB2IP	55914	broad.mit.edu	37	5	65340041	65340041	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:65340041T>C	uc003juk.2	+	16	1815	c.1505T>C	c.(1504-1506)gTa>gCa	p.V502A	ERBB2IP_uc011cqx.2_Missense_Mutation_p.V502A|ERBB2IP_uc003jui.2_Missense_Mutation_p.V502A|ERBB2IP_uc003jul.2_Missense_Mutation_p.V502A|ERBB2IP_uc011cqy.2_Missense_Mutation_p.V502A|ERBB2IP_uc003juj.2_Missense_Mutation_p.V502A|ERBB2IP_uc011cqz.2_Intron|ERBB2IP_uc010iwx.2_Missense_Mutation_p.V502A	NM_001253697	NP_001240626	Q96RT1	LAP2_HUMAN	Homo sapiens erbb2 interacting protein (ERBB2IP), transcript variant 1, mRNA.	502					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		CAAACCATTGTACATAGATTA	0.323000												
BIRC6	57448	broad.mit.edu	37	2	32756560	32756560	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:32756560G>A	uc010ezu.3	+	60	12367	c.12233G>A	c.(12232-12234)gGt>gAt	p.G4078D	MIR558_uc021vfr.1_5'Flank	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	4078					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GCAGGAATGGGTGGACTGGCT	0.408000												
INSR	3643	broad.mit.edu	37	19	7170578	7170578	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:7170578C>T	uc002mgd.1	-	5	1562	c.1453G>A	c.(1453-1455)Gcc>Acc	p.A485T	INSR_uc002mge.1_Missense_Mutation_p.A485T|INSR_uc002mgf.3_Missense_Mutation_p.A485T	NM_000208	NP_000199	P06213	INSR_HUMAN	Homo sapiens insulin receptor (INSR), transcript variant 1, mRNA.	485					G-protein coupled receptor protein signaling pathway|activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of MAPKKK cascade|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|PTB domain binding|SH2 domain binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|receptor signaling protein tyrosine kinase activity			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GTCTTCAGGGCAATGTCGTTT	0.498000												
GOLGB1	2804	broad.mit.edu	37	3	121417211	121417211	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:121417211G>A	uc010hrc.3	-	12	2285	c.2159C>T	c.(2158-2160)gCt>gTt	p.A720V	GOLGB1_uc003eei.4_Missense_Mutation_p.A715V|GOLGB1_uc003eej.4_Missense_Mutation_p.A681V|GOLGB1_uc021xcy.1_Missense_Mutation_p.A640V|GOLGB1_uc011bjm.1_Missense_Mutation_p.A601V|GOLGB1_uc010hrd.1_Missense_Mutation_p.A679V	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	Homo sapiens golgin B1 (GOLGB1), mRNA.	715					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		AATTTCCTTAGCTTTCTCATC	0.363000												
MDN1	23195	broad.mit.edu	37	6	90433295	90433295	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:90433295G>A	uc003pnn.1	-	38	5830	c.5714C>T	c.(5713-5715)gCc>gTc	p.A1905V		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	1905					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CAAAGTACTGGCAATGAACTC	0.333000												
EEF1B2	1933	broad.mit.edu	37	2	207026140	207026140	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:207026140G>A	uc002vbg.1	+	3	386	c.274G>A	c.(274-276)Gct>Act	p.A92T	NDUFS1_uc010ziq.2_5'Flank|NDUFS1_uc002vbe.3_5'Flank|NDUFS1_uc010zir.2_5'Flank|NDUFS1_uc010zis.2_5'Flank|NDUFS1_uc010zit.2_5'Flank|NDUFS1_uc010ziu.2_5'Flank|EEF1B2_uc002vbf.1_Missense_Mutation_p.A92T|EEF1B2_uc002vbh.1_Missense_Mutation_p.A92T|SNORD51_uc002vbi.1_5'Flank|SNORA41_uc002vbj.3_5'Flank	NM_021121	NP_066944	P24534	EF1B_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 beta 2 (EEF1B2), transcript variant 2, mRNA.	92						cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						AGGAAGTGGAGCTACAGATAG	0.443000												
DACH1	1602	broad.mit.edu	37	13	72049901	72049901	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:72049901G>A	uc021rkj.1	-	8	2380	c.1957C>T	c.(1957-1959)Cgt>Tgt	p.R653C	DACH1_uc021rkk.1_Missense_Mutation_p.R505C|DACH1_uc021rkl.1_Missense_Mutation_p.R451C	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	Homo sapiens dachshund homolog 1 (Drosophila) (DACH1), transcript variant 1, mRNA.	703	DACHbox-C.|Interaction with SIN3A (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	p.R652Q(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		GCTTGTTCACGCCGTTTCGTC	0.403000												
SLC37A2	219855	broad.mit.edu	37	11	124955002	124955002	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:124955002C>T	uc010sau.2	+	13	1466	c.1215C>T	c.(1213-1215)taC>taT	p.Y405Y	SLC37A2_uc001qbn.3_Silent_p.Y405Y|SLC37A2_uc010sav.1_Silent_p.Y30Y|SLC37A2_uc001qbp.3_Silent_p.Y30Y	NM_198277	NP_938018	Q8TED4	SPX2_HUMAN	Homo sapiens solute carrier family 37 (glycerol-3-phosphate transporter), member 2 (SLC37A2), transcript variant 1, mRNA.	405					carbohydrate transport|transmembrane transport	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	27	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)		ATGGCCCATACGCGCTCATCA	0.627000												
RBPJ	3516	broad.mit.edu	37	4	26431567	26431567	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:26431567C>T	uc003grx.2	+	9	1211	c.975C>T	c.(973-975)ggC>ggT	p.G325G	RBPJ_uc003gry.2_Silent_p.G310G|RBPJ_uc003grz.2_Silent_p.G325G|RBPJ_uc011bxt.2_Silent_p.G325G|RBPJ_uc003gsa.2_Silent_p.G311G|RBPJ_uc003gsb.2_Silent_p.G312G	NM_005349	NP_005340	Q06330	SUH_HUMAN	Homo sapiens recombination signal binding protein for immunoglobulin kappa J region (RBPJ), transcript variant 1, mRNA.	325					DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				TAAATGATGGCGCTTCCTGGA	0.403000												
STOX1	219736	broad.mit.edu	37	10	70644170	70644170	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:70644170G>A	uc001jos.2	+	2	705	c.618G>A	c.(616-618)ctG>ctA	p.L206L	STOX1_uc001joq.3_Silent_p.L96L|STOX1_uc001jor.3_Silent_p.L206L|STOX1_uc009xpy.3_Intron|STOX1_uc021prw.1_Silent_p.L96L	NM_001130161	NP_689922	Q6ZVD7	STOX1_HUMAN	Homo sapiens storkhead box 1 (STOX1), transcript variant 2, mRNA.	206						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						AGAGAATGCTGCCATCAGATG	0.453000												
GPR153	387509	broad.mit.edu	37	1	6311422	6311422	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:6311422C>A	uc001amp.2	-	3	1215	c.955G>T	c.(955-957)Gcc>Tcc	p.A319S		NM_207370	NP_997253	Q6NV75	GP153_HUMAN	Homo sapiens G protein-coupled receptor 153 (GPR153), mRNA.	319						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		TCGTCGTTGGCCATGAGGGCC	0.637000												
JMJD7-PLA2G4B	8681	broad.mit.edu	37	15	42139574	42139574	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:42139574A>G	uc001zoo.4	+	23	2720	c.2680A>G	c.(2680-2682)Atc>Gtc	p.I894V	JMJD7-PLA2G4B_uc010bcn.3_Intron|JMJD7-PLA2G4B_uc001zoq.4_Missense_Mutation_p.I364V|JMJD7-PLA2G4B_uc010bco.3_Missense_Mutation_p.I663V	NM_005090	NP_005081	P0C869	PA24B_HUMAN	Homo sapiens JMJD7-PLA2G4B readthrough (JMJD7-PLA2G4B), transcript variant 1, mRNA.	663					arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						GGAGCAGGGGATCCCGTTCCC	0.692000												
PNKP	11284	broad.mit.edu	37	19	50367620	50367620	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:50367620C>T	uc002pqj.3	-	4	649	c.539G>A	c.(538-540)cGc>cAc	p.R180H	PNKP_uc002pqg.3_5'UTR|PNKP_uc002pqi.3_Missense_Mutation_p.R141H|PNKP_uc021uxx.1_Missense_Mutation_p.R180H	NM_007254	NP_009185	Q96T60	PNKP_HUMAN	Homo sapiens polynucleotide kinase 3'-phosphatase (PNKP), mRNA.	180			R -> S (in dbSNP:rs3739185).		DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		CTTCCCAGAGCGTGTGGTGAT	0.577000								Other BER factors				
MEST	4232	broad.mit.edu	37	7	130138010	130138010	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:130138010G>A	uc003vqg.3	+	4	626	c.370G>A	c.(370-372)Gcc>Acc	p.A124T	MEST_uc003vqc.3_Missense_Mutation_p.A115T|MEST_uc003vqd.3_Missense_Mutation_p.A115T|MEST_uc022alp.1_Missense_Mutation_p.A115T|MEST_uc003vqf.3_Missense_Mutation_p.A115T|MEST_uc011kph.2_Missense_Mutation_p.A110T	NM_002402	NP_002393	Q5EB52	MEST_HUMAN	Homo sapiens mesoderm specific transcript homolog (mouse) (MEST), transcript variant 1, mRNA.	124					mesoderm development	endoplasmic reticulum membrane|integral to membrane	hydrolase activity|protein binding	p.Q123*(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2)	12	Melanoma(18;0.0435)					ATTTGAGCAGGCCAGCATCGT	0.512000												
ODZ1	10178	broad.mit.edu	37	X	123514894	123514894	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:123514894G>A	uc010nqy.3	-	31	7755	c.7691C>T	c.(7690-7692)gCc>gTc	p.A2564V	ODZ1_uc011muj.2_Missense_Mutation_p.A2563V|ODZ1_uc004euj.3_Missense_Mutation_p.A2557V	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	2557					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						CAGGTAATGGGCATTATTGAG	0.443000												
TMLHE	55217	broad.mit.edu	37	X	154754277	154754277	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:154754277A>T	uc004fnn.3	-	2	369	c.198T>A	c.(196-198)aaT>aaA	p.N66K	TMLHE_uc004fnp.4_Missense_Mutation_p.N66K	NM_018196	NP_060666	Q9NVH6	TMLH_HUMAN	Homo sapiens trimethyllysine hydroxylase, epsilon (TMLHE), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	66				N -> D (in Ref. 3; CAG33546).	carnitine biosynthetic process	mitochondrial matrix	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|trimethyllysine dioxygenase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	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)				Succinic acid(DB00139)|Vitamin C(DB00126)	GCATCACGGTATTAGCATATT	0.428000												
MYH2	4620	broad.mit.edu	37	17	10438444	10438444	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:10438444C>T	uc010coi.3	-	18	2254	c.2126G>A	c.(2125-2127)cGc>cAc	p.R709H	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.R709H|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	709	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.R709C(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CCTACAGATGCGGATGCCTTC	0.433000												
LAMA1	284217	broad.mit.edu	37	18	6964747	6964747	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:6964747G>A	uc002knm.3	-	50	7345	c.7251C>T	c.(7249-7251)ggC>ggT	p.G2417G	LAMA1_uc002knl.3_5'UTR|LAMA1_uc010wzj.2_Silent_p.G1893G	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	2417	Laminin G-like 2.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCGGAGTCTCGCCCTGCTTGG	0.453000												
ZNF835	90485	broad.mit.edu	37	19	57176545	57176545	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:57176545C>T	uc010ygn.2	-	1	249	c.22G>A	c.(22-24)Gcc>Acc	p.A8T		NM_001005850	NP_001005850			Homo sapiens zinc finger protein 835 (ZNF835), mRNA.											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CCCTGGAGGGCGACGCTCAAG	0.517000												
PCDH15	65217	broad.mit.edu	37	10	55582282	55582282	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:55582282G>A	uc010qhy.1	-	34	5620	c.5225C>T	c.(5224-5226)gCc>gTc	p.A1742V	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_Intron|PCDH15_uc021pqw.1_Intron|PCDH15_uc010qht.2_Intron|PCDH15_uc021pqx.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.A1737V|PCDH15_uc021pqz.1_Missense_Mutation_p.A1712V|PCDH15_uc010qhv.1_Missense_Mutation_p.A1732V|PCDH15_uc010qhw.1_Missense_Mutation_p.A1695V|PCDH15_uc010qhx.1_Missense_Mutation_p.A1666V|PCDH15_uc010qhz.1_Missense_Mutation_p.A1737V|PCDH15_uc010qia.1_Missense_Mutation_p.A1715V|PCDH15_uc001jju.1_Missense_Mutation_p.A1735V|PCDH15_uc010qib.1_Missense_Mutation_p.A1712V	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1735					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.P1742L(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGGTGGATGGGCAAAATTTTC	0.463000										HNSCC(58;0.16)		
PCDHAC2	56134	broad.mit.edu	37	5	140237425	140237425	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:140237425G>A	uc003lhx.2	+	0	1792	c.1792G>A	c.(1792-1794)Gct>Act	p.A598T	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc011dad.2_Missense_Mutation_p.A598T	NM_018901	NP_061724	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.	612	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCAGTGGACGCTGACTCTGG	0.662000												
GDF6	392255	broad.mit.edu	37	8	97157065	97157065	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:97157065T>C	uc003yhp.3	-	1	1194	c.1094A>G	c.(1093-1095)gAg>gGg	p.E365G		NM_001001557	NP_001001557	Q6KF10	GDF6_HUMAN	Homo sapiens growth differentiation factor 6 (GDF6), mRNA.	365					BMP signaling pathway|activin receptor signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					CCAGCCCAGCTCCTTGAAGTT	0.662000												
RNF25	64320	broad.mit.edu	37	2	219528910	219528910	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:219528910C>T	uc002vit.3	-	9	1238	c.1150G>A	c.(1150-1152)Gac>Aac	p.D384N	RNF25_uc010fvw.3_Missense_Mutation_p.D272N	NM_022453	NP_071898	Q96BH1	RNF25_HUMAN	Homo sapiens ring finger protein 25 (RNF25), mRNA.	384					positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCTTTAGGTCCATGGGCTCC	0.652000												
TM9SF2	9375	broad.mit.edu	37	13	100172322	100172322	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:100172322G>A	uc001voj.1	+	2	405	c.272G>A	c.(271-273)cGc>cAc	p.R91H	TM9SF2_uc010afz.1_Missense_Mutation_p.R91H	NM_004800	NP_004791	Q99805	TM9S2_HUMAN	Homo sapiens transmembrane 9 superfamily member 2 (TM9SF2), mRNA.	91					transport	endosome membrane|integral to plasma membrane		p.R91H(4)		endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					GAAGGAAAGCGCCCATCTGAA	0.343000												
ASS1	445	broad.mit.edu	37	9	133339508	133339508	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:133339508A>G	uc010mza.3	+	5	1110	c.602A>G	c.(601-603)cAg>cGg	p.Q201R	ASS1_uc004bzm.3_Missense_Mutation_p.Q125R|ASS1_uc004bzn.3_Missense_Mutation_p.Q125R	NM_054012	NP_446464	P00966	ASSY_HUMAN	Homo sapiens argininosuccinate synthase 1 (ASS1), transcript variant 2, mRNA.	125					arginine biosynthetic process|urea cycle	cytosol	ATP binding|argininosuccinate synthase activity|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	GGGAACGATCAGGTCCGGTTT	0.602000												
GPR149	344758	broad.mit.edu	37	3	154055676	154055676	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:154055676C>T	uc003faa.3	-	3	2108	c.2008G>A	c.(2008-2010)Gcc>Acc	p.A670T		NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	Homo sapiens G protein-coupled receptor 149 (GPR149), mRNA.	670						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GAGTATGAGGCTGTTTCCCCT	0.438000												
LRRC8D	55144	broad.mit.edu	37	1	90400837	90400837	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:90400837G>A	uc021opq.1	+	0	2210	c.2210G>A	c.(2209-2211)aGc>aAc	p.S737N	LRRC8D_uc001dnm.3_Missense_Mutation_p.S737N|LRRC8D_uc001dnn.3_Missense_Mutation_p.S737N	NM_018103	NP_060573	Q7L1W4	LRC8D_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member D (LRRC8D), transcript variant 2, mRNA.	737						integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		TTAGATGTGAGCTACAACAAC	0.378000												
PSORS1C1	170679	broad.mit.edu	37	6	31106442	31106442	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:31106442C>T	uc003nsl.2	+	4	342	c.53C>T	c.(52-54)aCc>aTc	p.T18I	PSORS1C1_uc010jsj.2_Intron|PSORS1C1_uc003nsn.2_Intron|PSORS1C2_uc003nso.4_Intron	NM_014068	NP_054787	Q9UIG5	PS1C1_HUMAN	Homo sapiens psoriasis susceptibility 1 candidate 1 (PSORS1C1), mRNA.	18										kidney(1)|ovary(2)|prostate(1)|skin(1)	5						GGCACACAGACCCCAGCTTTA	0.577000												
DLEC1	9940	broad.mit.edu	37	3	38136483	38136483	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:38136483C>T	uc003chp.1	+	12	2054	c.2033C>T	c.(2032-2034)gCc>gTc	p.A678V	DLEC1_uc003cho.1_Missense_Mutation_p.A678V|DLEC1_uc010hgv.1_Missense_Mutation_p.A678V|DLEC1_uc003chr.1_5'UTR|DLEC1_uc010hgx.1_5'Flank|DLEC1_uc003chq.1_Intron	NM_007337	NP_031363	Q9Y238	DLEC1_HUMAN	Homo sapiens deleted in lung and esophageal cancer 1 (DLEC1), transcript variant DLEC1-S3, mRNA.	678					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		AAGGAGACTGCCTTCTCCATC	0.542000												
EEA1	8411	broad.mit.edu	37	12	93236266	93236266	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:93236266A>C	uc001tck.3	-	9	1155	c.890T>G	c.(889-891)gTt>gGt	p.V297G		NM_003566	NP_003557	Q15075	EEA1_HUMAN	Homo sapiens early endosome antigen 1 (EEA1), mRNA.	297					early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|GTP-dependent protein binding|calmodulin binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						TAATTCATTAACTGAACTTTT	0.299000												
KIAA1024	23251	broad.mit.edu	37	15	79749839	79749839	+	Silent	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:79749839A>G	uc002bew.1	+	1	1425	c.1350A>G	c.(1348-1350)gaA>gaG	p.E450E	KIAA1024_uc010unk.1_Silent_p.E450E	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	Homo sapiens KIAA1024 (KIAA1024), mRNA.	450						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						AGAAGCATGAACCAGTCAAAA	0.493000												
DLL1	28514	broad.mit.edu	37	6	170592454	170592454	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:170592454G>A	uc003qxm.3	-	8	2383	c.1913C>T	c.(1912-1914)gCg>gTg	p.A638V		NM_005618	NP_005609	O00548	DLL1_HUMAN	Homo sapiens delta-like 1 (Drosophila) (DLL1), mRNA.	638					Notch receptor processing|Notch signaling pathway|cell communication|cell fate determination|hemopoiesis|regulation of cell adhesion	extracellular region|integral to plasma membrane	Notch binding|calcium ion binding			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		ATAGTCCACCGCTGGGTAGCG	0.622000												
FAT4	79633	broad.mit.edu	37	4	126240523	126240523	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:126240523T>C	uc003ifj.4	+	0	2957	c.2957T>C	c.(2956-2958)gTc>gCc	p.V986A		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	986	Cadherin 9.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V986A(3)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACAGTTTATGTCCATGATGTA	0.438000												
PREX2	80243	broad.mit.edu	37	8	69021701	69021701	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:69021701G>A	uc003xxv.1	+	24	3016	c.2989G>A	c.(2989-2991)Gcc>Acc	p.A997T	PREX2_uc011lez.1_Missense_Mutation_p.A932T	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	997					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AACCATGGCGGCCCCTTCAGG	0.458000												
ZAN	7455	broad.mit.edu	37	7	100352914	100352914	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:100352914C>T	uc003uwj.3	+	14	3355	c.3190C>T	c.(3190-3192)Cct>Tct	p.P1064S	ZAN_uc003uwk.3_Missense_Mutation_p.P1064S|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	1064	TIL 1.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GAGCCCCAGGCCTAGCTGTGG	0.557000												
KBTBD6	89890	broad.mit.edu	37	13	41705357	41705357	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:41705357C>T	uc001uxu.1	-	0	1580	c.1291G>A	c.(1291-1293)Gca>Aca	p.A431T	AK056182_uc001uxv.1_5'Flank	NM_152903	NP_690867	Q86V97	KBTB6_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 6 (KBTBD6), mRNA.	431							protein binding			NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		TTGAGATATGCCACATCCATG	0.483000												
ZNF208	7757	broad.mit.edu	37	19	22156328	22156328	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:22156328C>T	uc021urr.1	-	3	1657	c.1508G>A	c.(1507-1509)gGc>gAc	p.G503D	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GAAAGCTTTGCCACATTCTTC	0.383000												
CNTN3	5067	broad.mit.edu	37	3	74334502	74334502	+	Silent	SNP	G	G	A	rs142860919		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:74334502G>A	uc003dpm.1	-	18	2738	c.2658C>T	c.(2656-2658)ggC>ggT	p.G886G		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	Homo sapiens contactin 3 (plasmacytoma associated) (CNTN3), mRNA.	886	Fibronectin type-III 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		AAGGCCCAGCGCCGGCACTGT	0.468000												
COL25A1	84570	broad.mit.edu	37	4	109858963	109858963	+	Splice_Site	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:109858963C>T	uc021xqo.1	-	10	764	c.708_splice	c.e10+1	p.M236_splice	COL25A1_uc003hze.1_Splice_Site_p.M236_splice|COL25A1_uc021xqp.1_Splice_Site_p.M236_splice|COL25A1_uc003hzg.3_Splice_Site_p.M236_splice|COL25A1_uc003hzd.3_Intron|COL25A1_uc003hzf.3_Splice_Site_p.M17_splice	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN	Homo sapiens collagen, type XXV, alpha 1 (COL25A1), transcript variant 1, mRNA.	236	Collagen-like 2.					collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		GAGATACTTGCCATCAAGCCT	0.333000												
CLIC5	53405	broad.mit.edu	37	6	45922936	45922936	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:45922936G>A	uc003oxv.3	-	1	692	c.586C>T	c.(586-588)Cgc>Tgc	p.R196C	CLIC5_uc003oxu.3_Missense_Mutation_p.R37C|CLIC5_uc003oxx.3_Missense_Mutation_p.R37C	NM_001114086	NP_001107558	Q9NZA1	CLIC5_HUMAN	Homo sapiens chloride intracellular channel 5 (CLIC5), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	196					female pregnancy	Golgi apparatus|actin cytoskeleton|cell cortex|chloride channel complex|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						ATGAAGAGGCGCTGAGAGAAA	0.488000												
ANKRD30A	91074	broad.mit.edu	37	10	37442528	37442528	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:37442528A>G	uc021ppc.1	+	12	1667	c.1568A>G	c.(1567-1569)gAt>gGt	p.D523G	ANKRD30A_uc001iza.1_Missense_Mutation_p.D523G	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	579						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TCACAGAAGGATGTGTGTTTA	0.294000												
CCDC147	159686	broad.mit.edu	37	10	106130764	106130764	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:106130764G>A	uc001kyh.3	+	6	1176	c.1042G>A	c.(1042-1044)Gaa>Aaa	p.E348K		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	Homo sapiens coiled-coil domain containing 147 (CCDC147), mRNA.	348										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		GGCAGAAGTCGAACAGCACAA	0.378000												
EIF2C1	26523	broad.mit.edu	37	1	36367904	36367904	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:36367904G>A	uc001bzl.3	+	10	1576	c.1363G>A	c.(1363-1365)Gca>Aca	p.A455T	EIF2C1_uc001bzk.3_Missense_Mutation_p.A380T|EIF2C1_uc009vuy.3_Intron	NM_012199	NP_036331	Q9UL18	AGO1_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 1 (EIF2C1), mRNA.	455					negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome	RNA binding|protein binding			biliary_tract(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|prostate(1)|skin(6)|urinary_tract(1)	36		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CGCCTGCTTCGCACCCCAAAA	0.572000												
RREB1	6239	broad.mit.edu	37	6	7229303	7229303	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:7229303C>T	uc003mxb.3	+	9	1463	c.971C>T	c.(970-972)gCg>gTg	p.A324V	RREB1_uc021yky.1_Missense_Mutation_p.A324V|RREB1_uc003mxc.3_Missense_Mutation_p.A324V|RREB1_uc010jnx.3_Missense_Mutation_p.A324V|RREB1_uc021ykz.1_Missense_Mutation_p.A324V|RREB1_uc021yla.1_Intron	NM_001003699	NP_001003699	Q92766	RREB1_HUMAN	Homo sapiens ras responsive element binding protein 1 (RREB1), transcript variant 1, mRNA.	324					Ras protein signal transduction|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				TGTGACAAGGCGTTCCCCATG	0.592000												
LHFP	10186	broad.mit.edu	37	13	40175124	40175124	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:40175124A>G	uc001uxf.3	-	1	741	c.230T>C	c.(229-231)aTc>aCc	p.I77T		NM_005780	NP_005771	Q9Y693	LHFP_HUMAN	Homo sapiens lipoma HMGIC fusion partner (LHFP), mRNA.	77						integral to membrane	DNA binding		HMGA2/LHFP(2)	breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(6)|prostate(2)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)		TGCGCTGGGGATGCCCTGGAA	0.592000			T	HMGA2	lipoma							
CDC40	51362	broad.mit.edu	37	6	110547422	110547422	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:110547422C>T	uc003pua.3	+	12	1454	c.1393C>T	c.(1393-1395)Cct>Tct	p.P465S		NM_015891	NP_056975	O60508	PRP17_HUMAN	Homo sapiens cell division cycle 40 homolog (S. cerevisiae) (CDC40), mRNA.	465					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		GCACTCAATGCCTGCAGTGAC	0.328000												
ERC2	26059	broad.mit.edu	37	3	55922476	55922476	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:55922476C>T	uc021wzo.1	-	12	2645	c.2505G>A	c.(2503-2505)gcG>gcA	p.A835A	ERC2_uc003dhq.1_Non-coding_Transcript|ERC2_uc003dhr.1_Silent_p.A831A|ERC2_uc003dht.1_Silent_p.A314A	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	835						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	p.A835A(3)|p.E834D(1)		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)		TGGCCAAGTGCGCTTCTTTTT	0.537000												
MLL3	58508	broad.mit.edu	37	7	151836322	151836322	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:151836322C>T	uc003wla.3	-	56	14702	c.14483G>A	c.(14482-14484)cGc>cAc	p.R4828H	MLL3_uc003wkz.3_Missense_Mutation_p.R3942H|MLL3_uc003wkx.3_Missense_Mutation_p.R986H|MLL3_uc003wky.3_Missense_Mutation_p.R2388H	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	4828	SET.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GTTATCCATGCGGAACATGTA	0.552000			N		medulloblastoma							
GCOM1	145781	broad.mit.edu	37	15	57913876	57913876	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:57913876G>A	uc002aei.3	+	3	520	c.389G>A	c.(388-390)cGa>cAa	p.R130Q	GCOM1_uc002aej.3_Missense_Mutation_p.R130Q|GCOM1_uc002aek.3_Intron|GCOM1_uc002ael.3_Intron|GCOM1_uc002aem.3_Missense_Mutation_p.R130Q|GCOM1_uc002aep.3_Non-coding_Transcript|GCOM1_uc010bfx.3_Non-coding_Transcript|GCOM1_uc002aeq.3_Non-coding_Transcript|GCOM1_uc002aen.3_Non-coding_Transcript|GCOM1_uc010bfy.3_Non-coding_Transcript|GCOM1_uc002aeo.3_Missense_Mutation_p.R130Q	NM_001018100	NP_001018110	P0CAP1	GCOM1_HUMAN	Homo sapiens myocardial zonula adherens protein (MYZAP), transcript variant 1, mRNA.	130					intracellular signal transduction	I band|extrinsic to internal side of plasma membrane				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						CAGAAGATTCGACAGCTCACC	0.468000												
RDH13	112724	broad.mit.edu	37	19	55568079	55568079	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:55568079C>T	uc002qio.3	-	2	467	c.282G>A	c.(280-282)cgG>cgA	p.R94R	RDH13_uc002qip.2_Silent_p.R23R|RDH13_uc010yfq.1_Non-coding_Transcript|RDH13_uc010esr.1_5'Flank	NM_001145971	NP_612421	Q8NBN7	RDH13_HUMAN	Homo sapiens retinol dehydrogenase 13 (all-trans/9-cis) (RDH13), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	94							binding|oxidoreductase activity	p.R94R(1)|p.R23R(1)		endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.199)	GBM - Glioblastoma multiforme(193;0.0504)	Vitamin A(DB00162)	AGTCCAGGTGCCGGGCGTTGA	0.572000												
GPRC5B	51704	broad.mit.edu	37	16	19884011	19884011	+	Missense_Mutation	SNP	C	C	T	rs137970804	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:19884011C>T	uc010vav.2	-	1	466	c.235G>A	c.(235-237)Gcc>Acc	p.A79T	GPRC5B_uc021tef.1_Missense_Mutation_p.A45T|GPRC5B_uc002dgt.3_Missense_Mutation_p.A53T	NM_016235	NP_057319	Q9NZH0	GPC5B_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 5, member B (GPRC5B), mRNA.	53										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						CCCCAGATGGCGTCCAGGTCG	0.647000												
MAP3K4	4216	broad.mit.edu	37	6	161533750	161533750	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:161533750C>T	uc003qtn.3	+	24	4712	c.4570C>T	c.(4570-4572)Cgt>Tgt	p.R1524C	MAP3K4_uc003qto.3_Missense_Mutation_p.R1474C|MAP3K4_uc011efz.2_Non-coding_Transcript|MAP3K4_uc011ega.2_Missense_Mutation_p.R977C|MAP3K4_uc003qtp.3_Missense_Mutation_p.R460C|MAP3K4_uc003qtq.3_Missense_Mutation_p.R213C	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 4 (MAP3K4), transcript variant 1, mRNA.	1524	Protein kinase.				JNK cascade|activation of MAPKK activity|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		GGGCCATGGGCGTGCGGCCGA	0.522000												
HHIPL2	79802	broad.mit.edu	37	1	222696094	222696094	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:222696094C>T	uc001hnh.1	-	8	2082	c.2024G>A	c.(2023-2025)aGc>aAc	p.S675N		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	Homo sapiens HHIP-like 2 (HHIPL2), mRNA.	675					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		TGTATTCTTGCTGCTTGTAGG	0.547000												
PPM1E	22843	broad.mit.edu	37	17	57058136	57058136	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:57058136G>A	uc002iwx.3	+	6	2139	c.2012G>A	c.(2011-2013)cGc>cAc	p.R671H	PPM1E_uc010ddd.3_Missense_Mutation_p.R434H	NM_014906	NP_055721	Q8WY54	PPM1E_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1E (PPM1E), mRNA.	680					protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			TCTCATTTACGCCACCACTAC	0.428000												
SPRED2	200734	broad.mit.edu	37	2	65540766	65540766	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:65540766G>T	uc002sdr.4	-	5	1661	c.1126C>A	c.(1126-1128)Ctc>Atc	p.L376I	SPRED2_uc010fcw.3_Missense_Mutation_p.L373I	NM_181784	NP_861449	Q7Z698	SPRE2_HUMAN	Homo sapiens sprouty-related, EVH1 domain containing 2 (SPRED2), transcript variant 1, mRNA.	376	SPR.				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						ATCCACCGGAGGCAAAACTTC	0.572000												
PMFBP1	83449	broad.mit.edu	37	16	72162994	72162994	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:72162994G>A	uc002fcc.4	-	12	2108	c.1936C>T	c.(1936-1938)Cgg>Tgg	p.R646W	PMFBP1_uc002fcd.3_Missense_Mutation_p.R641W|PMFBP1_uc002fce.3_Intron|PMFBP1_uc002fcf.3_Missense_Mutation_p.R496W|PMFBP1_uc010cgo.1_5'Flank	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA.	646										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				AATTCCTGCCGCAAAGCTTCA	0.527000												
PARD3	56288	broad.mit.edu	37	10	34671594	34671594	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:34671594C>T	uc010qej.2	-	8	1603	c.1273G>A	c.(1273-1275)Gca>Aca	p.A425T	PARD3_uc010qep.2_Missense_Mutation_p.A381T|PARD3_uc010qeq.2_Missense_Mutation_p.A381T|PARD3_uc010qek.2_Missense_Mutation_p.A425T|PARD3_uc010qel.2_Missense_Mutation_p.A425T|PARD3_uc010qem.2_Missense_Mutation_p.A425T|PARD3_uc010qen.2_Missense_Mutation_p.A425T|PARD3_uc010qeo.2_Missense_Mutation_p.A425T|PARD3_uc001ixo.2_Missense_Mutation_p.A155T|PARD3_uc001ixr.2_Missense_Mutation_p.A425T|PARD3_uc001ixq.2_Missense_Mutation_p.A425T|PARD3_uc001ixp.2_Missense_Mutation_p.A425T|PARD3_uc001ixt.1_Missense_Mutation_p.A246T|PARD3_uc001ixu.2_Missense_Mutation_p.A381T|PARD3_uc001ixs.1_Missense_Mutation_p.A78T	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog (C. elegans) (PARD3), transcript variant 1, mRNA.	425					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				GAGGGGTGTGCGCTATGAGGT	0.527000												
TCHP	84260	broad.mit.edu	37	12	110350854	110350854	+	Missense_Mutation	SNP	G	G	A	rs147052884	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:110350854G>A	uc001tpn.3	+	9	1264	c.1111G>A	c.(1111-1113)Gca>Aca	p.A371T	TCHP_uc001tpo.1_Non-coding_Transcript|TCHP_uc001tpp.3_Missense_Mutation_p.A371T	NM_001143852	NP_115676	Q9BT92	TCHP_HUMAN	Homo sapiens trichoplein, keratin filament binding (TCHP), transcript variant 2, mRNA.	371	Glu-rich.|Interaction with keratin proteins.|Trichohyalin/plectin homology domain.				apoptosis|negative regulation of cell growth	apical cortex|centrosome|keratin filament|mitochondrion|plasma membrane	protein binding	p.A371T(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(2)	22						AGAGCGCAGCGCACGGGACAG	0.622000												
CDHR2	54825	broad.mit.edu	37	5	176011688	176011688	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:176011688C>T	uc021yie.1	+	18	2680	c.2406C>T	c.(2404-2406)aaC>aaT	p.N802N	CDHR2_uc003mem.2_Silent_p.N802N|CDHR2_uc003men.1_Silent_p.N802N	NM_001171976	NP_060145	Q9BYE9	CDHR2_HUMAN	Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA.	802	Cadherin 7.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						AAGACGTGAACGACAATCCCC	0.592000												
TCHH	7062	broad.mit.edu	37	1	152085491	152085491	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:152085491G>A	uc009wne.1	-	2	474	c.202C>T	c.(202-204)Cgt>Tgt	p.R68C	TCHH_uc001ezp.2_Missense_Mutation_p.R68C	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	68	EF-hand 2.|S-100-like.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AAATCGACACGCCCATTACTG	0.443000												
EYA2	2139	broad.mit.edu	37	20	45702898	45702898	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:45702898G>A	uc002xsm.3	+	6	959	c.585G>A	c.(583-585)tcG>tcA	p.S195S	EYA2_uc010ghp.3_Silent_p.S195S|EYA2_uc002xsq.3_Silent_p.S195S	NM_005244	NP_005235	O00167	EYA2_HUMAN	Homo sapiens eyes absent homolog 2 (Drosophila) (EYA2), transcript variant 1, mRNA.	195					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity	p.P194T(1)|p.S195L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				TCTGCCCTTCGCCCCTCTCCA	0.617000												
PABPC1L	80336	broad.mit.edu	37	20	43559194	43559194	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:43559194C>T	uc010ggv.1	+	7	1148	c.1066C>T	c.(1066-1068)Cgc>Tgc	p.R356C	PABPC1L_uc010zwq.1_Non-coding_Transcript|PABPC1L_uc002xmv.2_Non-coding_Transcript|PABPC1L_uc002xmw.2_5'Flank|PABPC1L_uc002xmx.3_5'Flank	NM_001124756	NP_001118228	Q4VXU2	PAP1L_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 1-like (PABPC1L), mRNA.	356	RRM 4.						RNA binding|nucleotide binding	p.R356C(2)		breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						GATGAACGGGCGCATCGTGGG	0.577000												
TSNARE1	203062	broad.mit.edu	37	8	143396392	143396392	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:143396392G>A	uc003ywj.3	-	6	1085	c.1046C>T	c.(1045-1047)gCc>gTc	p.A349V	TSNARE1_uc011lju.2_Missense_Mutation_p.A348V|TSNARE1_uc003ywk.3_Missense_Mutation_p.A349V|TSNARE1_uc003ywl.4_Missense_Mutation_p.A129V	NM_145003	NP_659440	Q96NA8	TSNA1_HUMAN	Homo sapiens t-SNARE domain containing 1 (TSNARE1), mRNA.	349					vesicle-mediated transport	integral to membrane				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GCACTGAATGGCATCTGAGAG	0.637000												
ITGB3BP	23421	broad.mit.edu	37	1	63912521	63912521	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:63912521C>T	uc001dbb.2	-	8	748	c.608G>A	c.(607-609)cGt>cAt	p.R203H	ITGB3BP_uc001dbc.2_Non-coding_Transcript|ITGB3BP_uc001dba.2_Missense_Mutation_p.R164H	NM_001206739	NP_001193668	Q13352	CENPR_HUMAN	Homo sapiens integrin beta 3 binding protein (beta3-endonexin) (ITGB3BP), transcript variant 1, mRNA.	164					CenH3-containing nucleosome assembly at centromere|apoptosis|cell adhesion|induction of apoptosis by extracellular signals|mitotic prometaphase|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome, centromeric region|cytosol|membrane fraction|nucleoplasm	protein C-terminus binding|signal transducer activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9						GTCAAGATGACGTGATGCTAT	0.313000												
RLF	6018	broad.mit.edu	37	1	40702413	40702413	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:40702413G>A	uc001cfc.4	+	7	2070	c.2039G>A	c.(2038-2040)cGt>cAt	p.R680H	RLF_uc001cfd.4_Missense_Mutation_p.R371H	NM_012421	NP_036553	Q13129	RLF_HUMAN	Homo sapiens rearranged L-myc fusion (RLF), mRNA.	680					DNA integration|DNA mediated transformation|chromosome organization|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	p.R680S(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			GACTGTTCCCGTGTGTTTAAG	0.378000												
SERPIND1	3053	broad.mit.edu	37	22	21134082	21134082	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:21134082C>T	uc002ztc.2	+	0	569	c.566C>T	c.(565-567)gCg>gTg	p.A189V	PI4KA_uc002zsz.4_Intron|SERPIND1_uc002ztb.1_Missense_Mutation_p.A161V	NM_000185	NP_000176	P05546	HEP2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade D (heparin cofactor), member 1 (SERPIND1), mRNA.	161					blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)	ATTTCTACTGCGATGGGTATG	0.443000												
SLC35F1	222553	broad.mit.edu	37	6	118606424	118606424	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:118606424G>A	uc003pxx.4	+	6	1126	c.925G>A	c.(925-927)Gcc>Acc	p.A309T		NM_001029858	NP_001025029	Q5T1Q4	S35F1_HUMAN	Homo sapiens solute carrier family 35, member F1 (SLC35F1), mRNA.	309					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		GAAAACCAGTGCCACTTCAGT	0.473000											OREG0017635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
NCAPH	23397	broad.mit.edu	37	2	97024926	97024926	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:97024926G>A	uc002svz.1	+	9	1436	c.1352G>A	c.(1351-1353)cGc>cAc	p.R451H	NCAPH_uc010fhu.1_Missense_Mutation_p.R427H|NCAPH_uc010fhv.1_Missense_Mutation_p.R440H|NCAPH_uc010yum.1_Missense_Mutation_p.R427H|NCAPH_uc010yun.1_Missense_Mutation_p.R315H	NM_015341	NP_056156	Q15003	CND2_HUMAN	Homo sapiens non-SMC condensin I complex, subunit H (NCAPH), mRNA.	451					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				AGGCCTCGACGCAAACGTATG	0.483000												
NDN	4692	broad.mit.edu	37	15	23931741	23931741	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:23931741G>A	uc001ywk.3	-	0	710	c.624C>T	c.(622-624)agC>agT	p.S208S		NM_002487	NP_002478	Q99608	NECD_HUMAN	Homo sapiens necdin homolog (mouse) (NDN), mRNA.	208	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		TCCAGACGGCGCTCTCTCTGG	0.637000									Prader-Willi syndrome			
SOX18	54345	broad.mit.edu	37	20	62680254	62680254	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:62680254C>T	uc002yhs.3	-	1	530	c.420G>A	c.(418-420)cgG>cgA	p.R140R		NM_018419	NP_060889	P35713	SOX18_HUMAN	Homo sapiens SRY (sex determining region Y)-box 18 (SOX18), mRNA.	140					angiogenesis|blood vessel endothelial cell migration|endocardial cell differentiation|endocardium formation|establishment of endothelial barrier|heart looping|lymphangiogenesis|lymphatic endothelial cell differentiation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|positive regulation of transcription from RNA polymerase II promoter|vasculogenesis	nucleus	transcription regulatory region DNA binding			lung(3)	3	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					GCACGCGCAGCCGTTCGGCTT	0.716000												
NAA15	80155	broad.mit.edu	37	4	140262203	140262203	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:140262203C>T	uc003ihu.1	+	3	638	c.382C>T	c.(382-384)Cga>Tga	p.R128*		NM_057175	NP_476516	Q9BXJ9	NAA15_HUMAN	Homo sapiens N(alpha)-acetyltransferase 15, NatA auxiliary subunit (NAA15), mRNA.	128					N-terminal protein amino acid acetylation|angiogenesis|cell differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						GATTCAAATGCGAGATCTTGA	0.318000												
ERG	2078	broad.mit.edu	37	21	39755694	39755694	+	Silent	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr21:39755694T>C	uc010gnw.3	-	11	1387	c.1092A>G	c.(1090-1092)aaA>aaG	p.K364K	ERG_uc021wjd.1_Intron|ERG_uc002yxa.3_Silent_p.K357K|ERG_uc011aek.2_Silent_p.K265K|ERG_uc010gnv.3_Silent_p.K241K|ERG_uc010gnx.3_Silent_p.K340K|ERG_uc011ael.2_Silent_p.K364K|ERG_uc002yxb.3_Silent_p.K340K	NM_001243428	NP_001230357	P11308	ERG_HUMAN	Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog (avian) (ERG), transcript variant 5, mRNA.	364					cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				TCATGTTGGGTTTGCTCTTCC	0.577000			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""							
UBE3B	89910	broad.mit.edu	37	12	109962256	109962256	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:109962256A>G	uc001top.3	+	22	3119	c.2516A>G	c.(2515-2517)gAc>gGc	p.D839G	UBE3B_uc001toq.3_Missense_Mutation_p.D839G|UBE3B_uc001tos.3_Missense_Mutation_p.D266G|UBE3B_uc001too.1_Non-coding_Transcript|UBE3B_uc009zvj.1_Missense_Mutation_p.D839G	NM_130466	NP_904324	Q7Z3V4	UBE3B_HUMAN	Homo sapiens ubiquitin protein ligase E3B (UBE3B), transcript variant 1, mRNA.	839	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						TATGATGGGGACATCACTGAC	0.562000												
ZNF202	7753	broad.mit.edu	37	11	123596942	123596942	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:123596942G>A	uc001pzd.1	-	8	2110	c.1710C>T	c.(1708-1710)tgC>tgT	p.C570C	ZNF202_uc001pzc.1_Silent_p.C346C|ZNF202_uc001pze.1_Silent_p.C570C|ZNF202_uc001pzf.1_Silent_p.C570C	NM_003455	NP_003446	O95125	ZN202_HUMAN	Homo sapiens zinc finger protein 202 (ZNF202), mRNA.	570					lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.C570C(2)		endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		AGCAGCGCCCGCACTCGCTGC	0.607000												
CCNA1	8900	broad.mit.edu	37	13	37014191	37014191	+	Silent	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:37014191A>G	uc001uvr.4	+	5	1319	c.969A>G	c.(967-969)caA>caG	p.Q323Q	CCNA1_uc010teo.2_Silent_p.Q279Q|CCNA1_uc010abq.3_Silent_p.Q279Q|CCNA1_uc010abp.3_Silent_p.Q279Q|CCNA1_uc001uvs.4_Silent_p.Q322Q|CCNA1_uc010abr.3_Non-coding_Transcript	NM_003914	NP_001104517	P78396	CCNA1_HUMAN	Homo sapiens cyclin A1 (CCNA1), transcript variant 1, mRNA.	323					G2/M transition of mitotic cell cycle|cell division|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		CAAAACGACAACTGTTAAAAA	0.403000												
SCN1A	6323	broad.mit.edu	37	2	166900484	166900484	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:166900484G>A	uc002udo.4	-	12	1965	c.1738C>T	c.(1738-1740)Cga>Tga	p.R580*	SCN1A_uc010fpk.3_Nonsense_Mutation_p.R580*|SCN1A_uc021vsb.1_Nonsense_Mutation_p.R580*	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	580						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TCCTTTGCTCGCCCTCTAAAG	0.478000												
LRRC8D	55144	broad.mit.edu	37	1	90398905	90398905	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:90398905G>A	uc021opq.1	+	0	278	c.278G>A	c.(277-279)cGg>cAg	p.R93Q	LRRC8D_uc001dnm.3_Missense_Mutation_p.R93Q|LRRC8D_uc001dnn.3_Missense_Mutation_p.R93Q	NM_018103	NP_060573	Q7L1W4	LRC8D_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member D (LRRC8D), transcript variant 2, mRNA.	93						integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		CAAGATGGGCGGACAACAAAC	0.498000												
SEC24B	10427	broad.mit.edu	37	4	110442692	110442692	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:110442692C>T	uc003hzk.3	+	13	2473	c.2418C>T	c.(2416-2418)ggC>ggT	p.G806G	SEC24B_uc003hzl.3_Silent_p.G771G|SEC24B_uc011cfp.2_Silent_p.G836G|SEC24B_uc011cfq.2_Silent_p.G805G|SEC24B_uc011cfr.2_Silent_p.G770G	NM_006323	NP_006314	O95487	SC24B_HUMAN	Homo sapiens SEC24 family, member B (S. cerevisiae) (SEC24B), transcript variant 1, mRNA.	806					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		CAACAGGTGGCCGTGTGTCTG	0.433000												
IL17RD	54756	broad.mit.edu	37	3	57136541	57136541	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:57136541C>T	uc003dil.3	-	9	1034	c.945G>A	c.(943-945)acG>acA	p.T315T	IL17RD_uc003dik.3_Silent_p.T291T|IL17RD_uc010hna.3_Silent_p.T171T|IL17RD_uc011bex.1_Silent_p.T171T	NM_017563	NP_060033	Q8NFM7	I17RD_HUMAN	Homo sapiens interleukin 17 receptor D (IL17RD), mRNA.	315						Golgi membrane|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		CAGTGAAGAGCGTCGCGAATG	0.567000												
RANGAP1	5905	broad.mit.edu	37	22	41648913	41648913	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:41648913C>T	uc003azs.3	-	10	2813	c.1343G>A	c.(1342-1344)cGc>cAc	p.R448H	RANGAP1_uc003azt.3_Missense_Mutation_p.R448H|RANGAP1_uc003azu.3_Missense_Mutation_p.R448H|RANGAP1_uc011aoz.2_Missense_Mutation_p.R393H	NM_002883	NP_002874	P46060	RAGP1_HUMAN	Homo sapiens Ran GTPase activating protein 1 (RANGAP1), mRNA.	448					mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	Ran GTPase activator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGGCCCTAGGCGCAGCAGCTT	0.607000												
PRKCD	5580	broad.mit.edu	37	3	53222784	53222784	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:53222784G>T	uc003dgl.3	+	15	1817	c.1464G>T	c.(1462-1464)aaG>aaT	p.K488N	PRKCD_uc003dgm.3_Missense_Mutation_p.K488N	NM_006254	NP_997704	Q05655	KPCD_HUMAN	Homo sapiens protein kinase C, delta (PRKCD), transcript variant 1, mRNA.	488	Protein kinase.				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of MAP kinase activity|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		GCCACATCAAGATTGCCGACT	0.562000												
CNGA4	1262	broad.mit.edu	37	11	6262731	6262731	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:6262731C>T	uc001mco.3	+	4	1103	c.988C>T	c.(988-990)Ctg>Ttg	p.L330L	CNGA4_uc010raa.2_Silent_p.L99L|CNGA4_uc001mcn.3_Silent_p.L290L	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 4 (CNGA4), mRNA.	330					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCTGAGCGGCTGCGGGCAGA	0.552000												
PNPLA6	10908	broad.mit.edu	37	19	7614956	7614956	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:7614956G>A	uc010xjq.2	+	15	2039	c.1799G>A	c.(1798-1800)cGc>cAc	p.R600H	PNPLA6_uc002mgq.2_Missense_Mutation_p.R552H|PNPLA6_uc010xjp.2_Missense_Mutation_p.R526H|PNPLA6_uc002mgr.2_Missense_Mutation_p.R552H|PNPLA6_uc002mgs.3_Missense_Mutation_p.R591H	NM_001166111	NP_001159583	Q8IY17	PLPL6_HUMAN	Homo sapiens patatin-like phospholipase domain containing 6 (PNPLA6), transcript variant 1, mRNA.	591					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						CGAGCCCAACGCGACTGCACC	0.632000												
USP48	84196	broad.mit.edu	37	1	22030030	22030030	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:22030030A>G	uc010odq.2	-	20	2871	c.2633T>C	c.(2632-2634)gTc>gCc	p.V878A	USP48_uc001bfa.3_Missense_Mutation_p.V404A|USP48_uc001bfb.3_Missense_Mutation_p.V866A|USP48_uc009vqc.3_Missense_Mutation_p.V800A|USP48_uc001bfc.3_Missense_Mutation_p.V866A|USP48_uc001bfd.1_Intron	NM_032236	NP_115612	Q86UV5	UBP48_HUMAN	Homo sapiens ubiquitin specific peptidase 48 (USP48), transcript variant 1, mRNA.	866					ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		AACTTTATGGACATAGATGGT	0.428000												
HR	55806	broad.mit.edu	37	8	21986447	21986447	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:21986447C>A	uc003xas.3	-	1	902	c.237G>T	c.(235-237)gaG>gaT	p.E79D	HR_uc003xat.3_Missense_Mutation_p.E79D|HR_uc010lts.2_Missense_Mutation_p.E79D	NM_005144	NP_005135	O43593	HAIR_HUMAN	Homo sapiens hairless homolog (mouse) (HR), transcript variant 1, mRNA.	79							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		TCTGGGGGCCCTCGCCCTCCA	0.657000												
VCAM1	7412	broad.mit.edu	37	1	101194751	101194751	+	Silent	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:101194751C>A	uc001dti.3	+	4	1238	c.1017C>A	c.(1015-1017)ggC>ggA	p.G339G	VCAM1_uc010ouj.2_Silent_p.G277G|VCAM1_uc001dtj.3_Intron	NM_001078	NP_001069	P19320	VCAM1_HUMAN	Homo sapiens vascular cell adhesion molecule 1 (VCAM1), transcript variant 1, mRNA.	339	Ig-like C2-type 4.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	GTGTCATGGGCTGTGAATCCC	0.547000												
ZNF560	147741	broad.mit.edu	37	19	9577561	9577561	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:9577561C>T	uc002mlp.1	-	9	2272	c.2062G>A	c.(2062-2064)Gca>Aca	p.A688T	ZNF560_uc010dwr.1_Missense_Mutation_p.A582T	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	Homo sapiens zinc finger protein 560 (ZNF560), mRNA.	688					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						TTTCCACATGCGTTACATTCA	0.373000												
PKD2	5311	broad.mit.edu	37	4	88986920	88986920	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:88986920C>T	uc003hre.3	+	11	2334	c.2247C>T	c.(2245-2247)ggC>ggT	p.G749G	PKD2_uc011cdf.2_Silent_p.G167G|PKD2_uc011cdg.2_Silent_p.G75G|PKD2_uc011cdh.2_5'UTR	NM_000297	NP_000288	Q13563	PKD2_HUMAN	Homo sapiens polycystic kidney disease 2 (autosomal dominant) (PKD2), mRNA.	749	EF-hand domain.					basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		TCAGGAAGGGCCATACTGATG	0.433000												
CCDC50	152137	broad.mit.edu	37	3	191097951	191097951	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:191097951T>C	uc003fsv.3	+	6	1570	c.980T>C	c.(979-981)aTg>aCg	p.M327T	CCDC50_uc003fsw.3_Missense_Mutation_p.M151T	NM_178335	NP_848018	Q8IVM0	CCD50_HUMAN	Homo sapiens coiled-coil domain containing 50 (CCDC50), transcript variant 2, mRNA.	151						cytoplasm	protein binding			endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		TTTAAAGGAATGAAGCCAAGA	0.343000												
GYG1	2992	broad.mit.edu	37	3	148741973	148741973	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:148741973C>A	uc003ewn.3	+	5	975	c.742C>A	c.(742-744)Ctg>Atg	p.L248M	GYG1_uc011bnp.2_3'UTR|GYG1_uc003ewo.3_Missense_Mutation_p.L248M|GYG1_uc003ewp.3_Intron	NM_004130	NP_004121	P46976	GLYG_HUMAN	Homo sapiens glycogenin 1 (GYG1), transcript variant 1, mRNA.	248					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	glycogenin glucosyltransferase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|lung(3)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GTTTCTCATCCTGTGGTGGAA	0.423000												
FAT4	79633	broad.mit.edu	37	4	126369981	126369981	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:126369981G>A	uc003ifj.4	+	8	7810	c.7810G>A	c.(7810-7812)Gca>Aca	p.A2604T	FAT4_uc011cgp.2_Missense_Mutation_p.A902T|FAT4_uc003ifi.1_Missense_Mutation_p.A82T	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	2604	Cadherin 25.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATATTATATCGCAAGTGGGAa	0.393000												
ANGPT2	285	broad.mit.edu	37	8	6371295	6371295	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:6371295C>T	uc003wqj.4	-	6	1432	c.1103G>A	c.(1102-1104)cGc>cAc	p.R368H	MCPH1_uc003wqi.3_Intron|ANGPT2_uc003wqk.4_Missense_Mutation_p.R367H|ANGPT2_uc010lri.3_Missense_Mutation_p.R316H|ANGPT2_uc003wql.4_Missense_Mutation_p.R367H	NM_001147	NP_001138	O15123	ANGP2_HUMAN	Homo sapiens angiopoietin 2 (ANGPT2), transcript variant 1, mRNA.	368	Fibrinogen C-terminal.				Tie receptor signaling pathway|angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis	extracellular space	metal ion binding|receptor tyrosine kinase binding	p.R368C(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		AAGCACATAGCGTTGCTGATT	0.363000												
XRCC1	7515	broad.mit.edu	37	19	44056177	44056177	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:44056177C>T	uc002owt.2	-	8	1194	c.1074G>A	c.(1072-1074)acG>acA	p.T358T	XRCC1_uc010xwp.1_Silent_p.T327T	NM_006297	NP_006288	P18887	XRCC1_HUMAN	Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 1 (XRCC1), mRNA.	358	BRCT 1.				base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				ACATGAGGTGCGTGCTGTCCC	0.627000								Other BER factors				
GLB1L2	89944	broad.mit.edu	37	11	134244570	134244570	+	Silent	SNP	G	G	A	rs145307661		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:134244570G>A	uc001qhp.3	+	17	1970	c.1782G>A	c.(1780-1782)acG>acA	p.T594T	GLB1L2_uc009zdg.1_Non-coding_Transcript	NM_138342	NP_612351	Q8IW92	GLBL2_HUMAN	Homo sapiens galactosidase, beta 1-like 2 (GLB1L2), mRNA.	594					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		CCCAGAAGACGCTTTACCTCC	0.582000												
CKMT2	1160	broad.mit.edu	37	5	80548572	80548572	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:80548572G>A	uc003khc.4	+	3	453	c.211G>A	c.(211-213)Gcc>Acc	p.A71T	RNU5E-1_uc011cto.1_Intron|CKMT2_uc010jaq.3_Missense_Mutation_p.A71T|CKMT2_uc003khd.4_Missense_Mutation_p.A71T|LOC100131067_uc003khe.2_Intron|LOC100131067_uc003khf.2_Intron|LOC100131067_uc003khg.2_Intron	NM_001825	NP_001816	P17540	KCRS_HUMAN	Homo sapiens creatine kinase, mitochondrial 2 (sarcomeric) (CKMT2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	71	Phosphagen kinase N-terminal.				creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity	p.A71T(4)|p.A71A(1)		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)	CCTCACCCCCGCCATTTATGC	0.612000												
ZNF133	7692	broad.mit.edu	37	20	18296956	18296956	+	Silent	SNP	G	G	A	rs139392054	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:18296956G>A	uc010zrv.1	+	4	1673	c.1470G>A	c.(1468-1470)acG>acA	p.T490T	ZNF133_uc010gcq.2_Silent_p.T487T|ZNF133_uc010zrw.1_Silent_p.T424T|ZNF133_uc010gcr.2_Silent_p.T487T|ZNF133_uc010zrx.1_Silent_p.T392T|ZNF133_uc002wql.4_Silent_p.T486T|ZNF133_uc010gcs.3_Silent_p.T486T|ZNF133_uc010zry.2_Silent_p.T392T|ZNF133_uc002wqm.2_Silent_p.T487T	NM_003434	NP_003425	P52736	ZN133_HUMAN	Homo sapiens zinc finger protein 133 (ZNF133), transcript variant 1, mRNA.	487						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						ACCAGAGGACGCACTCAGGCG	0.587000												
CEP250	11190	broad.mit.edu	37	20	34091280	34091280	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:34091280C>T	uc021wco.1	+	29	5730	c.5083C>T	c.(5083-5085)Cga>Tga	p.R1695*	CEP250_uc010zve.2_Nonsense_Mutation_p.R1063*	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	Homo sapiens centrosomal protein 250kDa (CEP250), mRNA.	1695	Gln/Glu-rich.				G2/M transition of mitotic cell cycle|centriole-centriole cohesion|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CTTGAGAGAGCGAGGCCGGGA	0.592000												
USP6	9098	broad.mit.edu	37	17	5041523	5041523	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:5041523T>G	uc002gau.1	+	20	3263	c.1033T>G	c.(1033-1035)Tct>Gct	p.S345A	USP6_uc002gav.1_Missense_Mutation_p.S345A|USP6_uc010ckz.1_5'UTR|DQ584383_uc021toj.1_5'Flank|DQ574802_uc021tok.1_5'Flank|DQ573130_uc002gbd.3_5'Flank	NM_004505	NP_004496	P35125	UBP6_HUMAN	Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.	345					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	Rab GTPase activator activity|calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TCTTAGGGCCTCTACGAAGAA	0.572000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts							
LCT	3938	broad.mit.edu	37	2	136558281	136558281	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:136558281C>T	uc002tuu.1	-	11	4773	c.4762G>A	c.(4762-4764)Gcc>Acc	p.A1588T		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	1588	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	p.R1587H(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CCTTGACTGGCGCGGTACACA	0.542000												
TNFRSF9	3604	broad.mit.edu	37	1	7993308	7993308	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:7993308G>A	uc001aot.3	-	7	854	c.593C>T	c.(592-594)gCg>gTg	p.A198V	TRNA_Pseudo_uc021ofs.1_5'Flank	NM_001561	NP_001552	Q07011	TNR9_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 9 (TNFRSF9), mRNA.	198					induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		GAAGAGCAACGCAGTCGACGT	0.448000												
FRG2B	441581	broad.mit.edu	37	10	135439043	135439043	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:135439043G>A	uc010qvg.2	-	3	450	c.397C>T	c.(397-399)Cac>Tac	p.H133Y		NM_001080998	NP_001074467	Q96QU4	FRG2B_HUMAN	Homo sapiens FSHD region gene 2 family, member B (FRG2B), mRNA.	133						nucleus				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		TCACTGTTGTGCACAGGAGTG	0.527000												
EIF3A	8661	broad.mit.edu	37	10	120832428	120832428	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:120832428C>T	uc001ldu.3	-	3	661	c.515G>A	c.(514-516)cGc>cAc	p.R172H	EIF3A_uc010qsu.2_Missense_Mutation_p.R138H	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit A (EIF3A), mRNA.	172					formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		ATGGTACAGGCGCTCTACTCT	0.393000												
ZNF480	147657	broad.mit.edu	37	19	52825210	52825210	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:52825210G>A	uc010ydl.2	+	4	777	c.707G>A	c.(706-708)tGc>tAc	p.C236Y	ZNF480_uc002pyv.3_Missense_Mutation_p.C159Y|ZNF480_uc010ydm.2_Missense_Mutation_p.C193Y|ZNF480_uc010epn.3_Missense_Mutation_p.C67Y|AK097759_uc002pyw.1_Intron	NM_144684	NP_653285	Q8WV37	ZN480_HUMAN	Homo sapiens zinc finger protein 480 (ZNF480), mRNA.	236					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		TGTAATTCATGCGGCAAGGTC	0.363000												
SHC3	53358	broad.mit.edu	37	9	91628425	91628425	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:91628425G>A	uc004aqf.2	-	11	2029	c.1722C>T	c.(1720-1722)agC>agT	p.S574S		NM_016848	NP_058544	Q92529	SHC3_HUMAN	Homo sapiens SHC (Src homology 2 domain containing) transforming protein 3 (SHC3), mRNA.	574	SH2.				Ras protein signal transduction|central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway	cytosol	protein binding|signal transducer activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						CAATGGGCAGGCTGCTTTCTA	0.542000												
ELMO2	63916	broad.mit.edu	37	20	45003964	45003964	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:45003964C>T	uc010zxr.1	-	13	1222	c.1012G>A	c.(1012-1014)Gca>Aca	p.A338T	ELMO2_uc010zxq.1_Missense_Mutation_p.A58T|ELMO2_uc002xrs.1_Missense_Mutation_p.A73T|ELMO2_uc002xrt.1_Missense_Mutation_p.A326T|ELMO2_uc002xru.1_Missense_Mutation_p.A326T|ELMO2_uc010zxs.1_Missense_Mutation_p.A143T|ELMO2_uc002xrv.1_Missense_Mutation_p.A45T|ELMO2_uc002xrw.3_Missense_Mutation_p.A143T|ELMO2_uc002xrx.1_Missense_Mutation_p.A326T	NM_182764	NP_877496	Q96JJ3	ELMO2_HUMAN	Homo sapiens engulfment and cell motility 2 (ELMO2), transcript variant 2, mRNA.	326	ELMO.				apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	SH3 domain binding|lyase activity|receptor tyrosine kinase binding			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				TCAGACTCTGCGTCAAATGCA	0.493000												
APOBEC3F	200316	broad.mit.edu	37	22	39482482	39482482	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:39482482G>A	uc021wpr.1	+	5	1227	c.934G>A	c.(934-936)Gcc>Acc	p.A312T	APOBEC3F_uc003awx.3_Missense_Mutation_p.A312T|APOBEC3F_uc003awy.3_Missense_Mutation_p.A245T	NM_021822	NP_068594	Q9HC16	ABC3G_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G (APOBEC3G), mRNA.	312					DNA cytosine deamination|base conversion or substitution editing|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	RNA binding|cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16	Melanoma(58;0.04)					CATCTTCACTGCCCGCATCTA	0.512000												
ATP1B4	23439	broad.mit.edu	37	X	119504981	119504981	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:119504981G>A	uc004esr.3	+	3	562	c.478G>A	c.(478-480)Gcc>Acc	p.A160T	ATP1B4_uc004esq.3_Missense_Mutation_p.A156T|ATP1B4_uc011mtx.2_Missense_Mutation_p.A125T|ATP1B4_uc011mty.2_Missense_Mutation_p.A117T	NM_001142447	NP_001135919	Q9UN42	AT1B4_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, beta 4 polypeptide (ATP1B4), transcript variant 1, mRNA.	160					ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity	p.A156T(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						CAGACCCTTCGCCCATAGCCT	0.403000												
KRTAP24-1	643803	broad.mit.edu	37	21	31654991	31654991	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr21:31654991T>C	uc002ynv.3	-	0	286	c.260A>G	c.(259-261)gAc>gGc	p.D87G		NM_001085455	NP_001078924	Q3LI83	KR241_HUMAN	Homo sapiens keratin associated protein 24-1 (KRTAP24-1), mRNA.	87						keratin filament	structural molecule activity			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						GTTTGACGGGTCACAACCAGT	0.562000												
IRF2	3660	broad.mit.edu	37	4	185339814	185339814	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:185339814G>A	uc003iwf.4	-	3	436	c.236C>T	c.(235-237)gCg>gTg	p.A79V		NM_002199	NP_002190	P14316	IRF2_HUMAN	Homo sapiens interferon regulatory factor 2 (IRF2), mRNA.	79					blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.A79V(2)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		TCTGAAATTCGCCTTCCATGT	0.383000												
TAB3	257397	broad.mit.edu	37	X	30877628	30877628	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:30877628G>A	uc004dcj.3	-	4	741	c.78C>T	c.(76-78)ggC>ggT	p.G26G	TAB3_uc004dck.3_Silent_p.G26G|TAB3_uc010ngl.3_Silent_p.G26G	NM_152787	NP_690000	Q8N5C8	TAB3_HUMAN	Homo sapiens TGF-beta activated kinase 1/MAP3K7 binding protein 3 (TAB3), mRNA.	26	CUE.				I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|innate immune response|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding	p.G26G(2)		NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						GAGACACCACGCCCTCTGGAA	0.448000												
GPBP1	65056	broad.mit.edu	37	5	56542211	56542211	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:56542211T>C	uc003jrk.4	+	5	641	c.584T>C	c.(583-585)tTc>tCc	p.F195S	GPBP1_uc003jrh.4_Missense_Mutation_p.F188S|GPBP1_uc003jri.4_Missense_Mutation_p.F17S|GPBP1_uc003jrj.4_Missense_Mutation_p.F195S|GPBP1_uc021xyv.1_Missense_Mutation_p.F17S	NM_001127236	NP_001190175	Q86WP2	GPBP1_HUMAN	Homo sapiens GC-rich promoter binding protein 1 (GPBP1), transcript variant 2, mRNA.	188					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		CTATCTGGATTCCCAGTAGTA	0.403000												
SLC14A1	6563	broad.mit.edu	37	18	43310355	43310355	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:43310355C>T	uc010dnk.3	+	3	460	c.238C>T	c.(238-240)Cca>Tca	p.P80S	SLC14A1_uc002lbi.4_Intron|SLC14A1_uc010xcn.2_Missense_Mutation_p.P24S|SLC14A1_uc002lbf.4_Missense_Mutation_p.P24S|SLC14A1_uc002lbg.4_Non-coding_Transcript|SLC14A1_uc010xco.2_Intron|SLC14A1_uc002lbh.4_Intron|SLC14A1_uc002lbj.4_Missense_Mutation_p.P80S|SLC14A1_uc002lbk.4_Missense_Mutation_p.P24S|SLC14A1_uc021ujg.1_Missense_Mutation_p.P24S	NM_001128588	NP_056949	Q13336	UT1_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 1 (Kidd blood group) (SLC14A1), transcript variant 1, mRNA.	24						integral to plasma membrane	urea transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						CCAGGTTTCGCCATGTCAAGG	0.498000												
HYDIN	54768	broad.mit.edu	37	16	70867804	70867804	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:70867804G>A	uc002ezr.3	-	78	13813	c.13662C>T	c.(13660-13662)ggC>ggT	p.G4554G	HYDIN_uc010cfy.3_Non-coding_Transcript	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	4555										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CACCCACATCGCCTGTGTTCA	0.577000												
ASB2	51676	broad.mit.edu	37	14	94405768	94405768	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:94405768C>T	uc001ycd.3	-	7	1673	c.1303G>A	c.(1303-1305)Gcc>Acc	p.A435T	ASB2_uc001ycb.2_Missense_Mutation_p.A81T|ASB2_uc001ycc.2_Missense_Mutation_p.A387T|ASB2_uc001yce.1_Missense_Mutation_p.A333T	NM_001202429	NP_001189358	Q96Q27	ASB2_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 2 (ASB2), transcript variant 1, mRNA.	387					intracellular signal transduction					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		TTGGGGTCGGCGCCGTGTTGC	0.677000												
LECT1	11061	broad.mit.edu	37	13	53282677	53282677	+	Silent	SNP	A	A	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:53282677A>C	uc001vhf.2	-	5	894	c.783T>G	c.(781-783)ccT>ccG	p.P261P	LECT1_uc001vhg.2_Silent_p.P261P|LECT1_uc001vhh.2_Silent_p.P250P	NM_007015	NP_008946	O75829	LECT1_HUMAN	Homo sapiens leukocyte cell derived chemotaxin 1 (LECT1), transcript variant 1, mRNA.	261					cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		GCACATGATAAGGATTATCAG	0.488000												
IGSF10	285313	broad.mit.edu	37	3	151176330	151176330	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:151176330C>T	uc011bod.2	-	0	168	c.168G>A	c.(166-168)ccG>ccA	p.P56P		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	56	LRRNT.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCACATTGGGCGGGATGCTGT	0.537000												
GSTCD	79807	broad.mit.edu	37	4	106639056	106639056	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:106639056C>T	uc003hxz.4	+	1	358	c.286C>T	c.(286-288)Cga>Tga	p.R96*	GSTCD_uc003hxx.2_Nonsense_Mutation_p.R96*|GSTCD_uc003hxy.4_Intron|GSTCD_uc011cfb.2_Intron|GSTCD_uc010ils.2_Nonsense_Mutation_p.R96*	NM_001031720	NP_001026890	Q8NEC7	GSTCD_HUMAN	Homo sapiens glutathione S-transferase, C-terminal domain containing (GSTCD), transcript variant 1, mRNA.	96						cytoplasm	rRNA methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		AGTAGTAGAACGATCAGACAA	0.408000												
RAP1B	5908	broad.mit.edu	37	12	69042508	69042508	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:69042508C>T	uc001sub.3	+	1	244	c.4C>T	c.(4-6)Cgt>Tgt	p.R2C	RAP1B_uc010ste.2_Intron|RAP1B_uc001suc.3_Missense_Mutation_p.R2C|RAP1B_uc010stf.2_Missense_Mutation_p.R2C|RAP1B_uc010stg.2_Missense_Mutation_p.R2C|RAP1B_uc010sth.2_Missense_Mutation_p.R2C|RAP1B_uc010sti.2_Missense_Mutation_p.R2C	NM_015646	NP_056461	P61224	RAP1B_HUMAN	Homo sapiens RAP1B, member of RAS oncogene family (RAP1B), transcript variant 1, mRNA.	2					blood coagulation|energy reserve metabolic process|regulation of establishment of cell polarity|regulation of insulin secretion	cell-cell junction|cytosol	GDP binding|GTP binding|GTPase activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)|urinary_tract(2)	12	Breast(13;1.24e-05)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	GBM - Glioblastoma multiforme(7;0.000306)		TTGCATCATGCGTGAGTATAA	0.368000												
ENPP4	22875	broad.mit.edu	37	6	46111218	46111218	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:46111218C>T	uc003oxy.3	+	3	1462	c.1203C>T	c.(1201-1203)tgC>tgT	p.C401C		NM_014936	NP_055751	Q9Y6X5	ENPP4_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative) (ENPP4), mRNA.	401						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						ACCAGTGGTGCATTAATCTCC	0.413000												
CLEC9A	283420	broad.mit.edu	37	12	10206943	10206943	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:10206943C>T	uc001qxa.3	+	4	778	c.165C>T	c.(163-165)ggC>ggT	p.G55G		NM_207345	NP_997228	Q6UXN8	CLC9A_HUMAN	Homo sapiens C-type lectin domain family 9, member A (CLEC9A), mRNA.	55					positive regulation of cytokine secretion|receptor-mediated endocytosis	cell surface|integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	22						TTTTCTTGGGCGTCAAGTGTA	0.303000												
ALMS1	7840	broad.mit.edu	37	2	73717261	73717261	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:73717261C>T	uc002sje.1	+	9	8283	c.8172C>T	c.(8170-8172)tgC>tgT	p.C2724C	ALMS1_uc002sjf.1_Silent_p.C2682C|ALMS1_uc002sjg.3_Silent_p.C2112C|ALMS1_uc002sjh.1_Silent_p.C2112C	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	2724					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						ATTCTAAATGCATTTCCAATT	0.398000												
CYP2C19	1557	broad.mit.edu	37	10	96602642	96602642	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:96602642C>A	uc010qnz.2	+	6	1010	c.1010C>A	c.(1009-1011)cCc>cAc	p.P337H	CYP2C19_uc010qny.2_Missense_Mutation_p.P315H	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	337					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	AACCGGAGCCCCTGCATGCAG	0.532000												
PKD1	5310	broad.mit.edu	37	16	2152614	2152614	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:2152614C>T	uc002cos.1	-	24	9178	c.8969G>A	c.(8968-8970)aGt>aAt	p.S2990N	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Missense_Mutation_p.S2990N|PKD1_uc010bse.1_Non-coding_Transcript	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	2990					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CAGATGGTAACTCCCCGCTGG	0.647000												
CENPE	1062	broad.mit.edu	37	4	104067167	104067167	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:104067167G>T	uc003hxb.1	-	29	4322	c.4232C>A	c.(4231-4233)cCc>cAc	p.P1411H	CENPE_uc003hxc.1_Missense_Mutation_p.P1386H	NM_001813	NP_001804	Q02224	CENPE_HUMAN	Homo sapiens centromere protein E, 312kDa (CENPE), mRNA.	1411					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)		TGAATCTTTGGGTTTGAATTG	0.358000												
TBPL2	387332	broad.mit.edu	37	14	55903506	55903506	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:55903506G>A	uc001xby.3	-	1	381	c.381C>T	c.(379-381)agC>agT	p.S127S		NM_199047	NP_950248	Q6SJ96	TBPL2_HUMAN	Homo sapiens TATA box binding protein like 2 (TBPL2), mRNA.	127					multicellular organismal development|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						GTGGACTTTGGCTTTCAGAAT	0.463000												
MYO1D	4642	broad.mit.edu	37	17	31087632	31087632	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:31087632C>T	uc002hho.1	-	8	1061	c.1049G>A	c.(1048-1050)cGc>cAc	p.R350H	MYO1D_uc002hhp.1_Missense_Mutation_p.R350H|MYO1D_uc010wcb.2_Missense_Mutation_p.R350H	NM_015194	NP_056009	O94832	MYO1D_HUMAN	Homo sapiens myosin ID (MYO1D), mRNA.	350	Myosin head-like.					myosin complex	ATP binding|actin binding|calmodulin binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			ACAAAAAAGGCGCTCATATAT	0.383000												
PGAP2	27315	broad.mit.edu	37	11	3845179	3845179	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:3845179C>T	uc010qxw.2	+	4	611	c.586C>T	c.(586-588)Cgt>Tgt	p.R196C	PGAP2_uc001lyl.3_Missense_Mutation_p.R96C|PGAP2_uc010qxy.2_Missense_Mutation_p.R135C|PGAP2_uc001lyn.4_Missense_Mutation_p.A31V|PGAP2_uc010qya.2_Non-coding_Transcript|PGAP2_uc010qyb.2_Missense_Mutation_p.A81V|PGAP2_uc001lys.3_Missense_Mutation_p.R139C|PGAP2_uc001lyt.3_5'UTR|PGAP2_uc021qcm.1_Missense_Mutation_p.R78C	NM_014489	NP_055304	Q9UHJ9	PGAP2_HUMAN	Homo sapiens post-GPI attachment to proteins 2 (PGAP2), transcript variant 1, mRNA.	139					GPI anchor biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	protein transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11						CTACGTGTGGCGTTTCTGCAT	0.637000												
CDH17	1015	broad.mit.edu	37	8	95189851	95189851	+	Silent	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:95189851G>T	uc003ygh.2	-	3	374	c.249C>A	c.(247-249)gcC>gcA	p.A83A	CDH17_uc011lgo.1_Silent_p.A83A|CDH17_uc011lgp.1_Silent_p.A83A	NM_004063	NP_004054	Q12864	CAD17_HUMAN	Homo sapiens cadherin 17, LI cadherin (liver-intestine) (CDH17), transcript variant 1, mRNA.	83	Cadherin 1.					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)			CCCTGTCCAAGGCTCTGTTGT	0.448000												
SCML2	10389	broad.mit.edu	37	X	18278348	18278348	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:18278348G>A	uc004cyl.2	-	8	1169	c.1012C>T	c.(1012-1014)Cgt>Tgt	p.R338C	SCML2_uc004cyk.3_Non-coding_Transcript|SCML2_uc010nfd.1_Missense_Mutation_p.R338C|SCML2_uc011miz.1_Missense_Mutation_p.R272C|SCML2_uc010nfc.2_Missense_Mutation_p.R74C	NM_006089	NP_006080	Q9UQR0	SCML2_HUMAN	Homo sapiens sex comb on midleg-like 2 (Drosophila) (SCML2), transcript variant 1, mRNA.	338					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					AACATGCCACGGTCTCTGGTC	0.338000												
PSMA7	5688	broad.mit.edu	37	20	60714232	60714232	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:60714232G>A	uc002ybx.1	-	3	485	c.370C>T	c.(370-372)Cgc>Tgc	p.R124C		NM_002792	NP_002783	O14818	PSA7_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, alpha type, 7 (PSMA7), mRNA.	124					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|interspecies interaction between organisms|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	identical protein binding|threonine-type endopeptidase activity			large_intestine(1)|lung(2)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			AACGGCCTGCGCCCATTGCTC	0.502000												
FOLR3	2352	broad.mit.edu	37	11	71850830	71850830	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:71850830G>A	uc001ory.1	+	4	869	c.819G>A	c.(817-819)gcG>gcA	p.A273A	FOLR3_uc001orx.1_Silent_p.A230A			P41439	FOLR3_HUMAN	Homo sapiens folate receptor 3 (gamma) (FOLR3), mRNA.	229					folic acid transport	extracellular region|extrinsic to membrane|membrane fraction	folic acid binding|receptor activity			large_intestine(3)|lung(8)|prostate(2)	13					Folic Acid(DB00158)	TCTATGCTGCGGCCATGAATG	0.537000												
ERCC6	2074	broad.mit.edu	37	10	50701183	50701183	+	Missense_Mutation	SNP	C	C	T	rs138758064	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:50701183C>T	uc001jhs.4	-	7	1955	c.1801G>A	c.(1801-1803)Ggt>Agt	p.G601S	ERCC6_uc010qgr.2_Intron|ERCC6_uc001jhr.4_5'UTR	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6 (ERCC6), mRNA.	601	Helicase ATP-binding.				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|DNA binding|DNA-dependent ATPase activity|chromatin binding|helicase activity|protein C-terminus binding|protein N-terminus binding|protein complex binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GTATAGGAACCGGTTTCATGT	0.403000								Direct reversal of damage;Nucleotide excision repair (NER)				
PFKM	5213	broad.mit.edu	37	12	48534513	48534513	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:48534513G>A	uc001rrb.2	+	15	1687	c.1413G>A	c.(1411-1413)tcG>tcA	p.S471S	PFKM_uc001rra.2_Silent_p.S85S|PFKM_uc001rrc.3_Silent_p.S400S|PFKM_uc001rrd.3_Silent_p.S85S|PFKM_uc001rre.2_Silent_p.S400S|PFKM_uc021qxj.1_Silent_p.S400S|PFKM_uc001rrg.2_Silent_p.S369S	NM_001166686	NP_001160160	P08237	K6PF_HUMAN	Homo sapiens phosphofructokinase, muscle (PFKM), transcript variant 1, mRNA.	400					fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding	p.R471S(1)		NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						AGAGTGGTTCGCACACAGTGG	0.567000												
TMEM177	80775	broad.mit.edu	37	2	120438980	120438980	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:120438980G>A	uc021vnk.1	+	0	551	c.551G>A	c.(550-552)gGc>gAc	p.G184D	TMEM177_uc002tme.2_Intron|TMEM177_uc010flg.1_Missense_Mutation_p.G184D|TMEM177_uc002tmc.1_Missense_Mutation_p.G184D|TMEM177_uc002tmd.2_Missense_Mutation_p.G184D|TMEM177_uc010flh.3_Intron	NM_030577	NP_085054	Q53S58	TM177_HUMAN	Homo sapiens transmembrane protein 177 (TMEM177), transcript variant 2, mRNA.	184						integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					TGGGCACTGGGCGTGGGTGCC	0.642000												
CREB3	10488	broad.mit.edu	37	9	35736398	35736398	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:35736398G>A	uc003zxv.3	+	8	1244	c.791G>A	c.(790-792)cGc>cAc	p.R264H	CREB3_uc010mla.3_Missense_Mutation_p.R183H	NM_006368	NP_006359	O43889	CREB3_HUMAN	Homo sapiens cAMP responsive element binding protein 3 (CREB3), mRNA.	288					chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation	Golgi apparatus|cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|integral to membrane|nucleus	CCR1 chemokine receptor binding|DNA binding|cAMP response element binding protein binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|urinary_tract(1)	9	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	GBM - Glioblastoma multiforme(74;0.0285)		GTGTTGTCCCGCCAGCTTCGT	0.582000											OREG0019176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
OR2C1	4993	broad.mit.edu	37	16	3406131	3406131	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:3406131G>T	uc002cuw.1	+	0	243	c.191G>T	c.(190-192)aGc>aTc	p.S64I		NM_012368	NP_036500	O95371	OR2C1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily C, member 1 (OR2C1), mRNA.	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TTCTTCCTCAGCAACCTCTCC	0.522000												
KCNU1	157855	broad.mit.edu	37	8	36780102	36780102	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:36780102G>A	uc010lvw.3	+	23	2778	c.2691G>A	c.(2689-2691)acG>acA	p.T897T	KCNU1_uc003xjw.2_Non-coding_Transcript	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA.	897	Segment S10.					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CCTTTTCTACGGGCACTGTTT	0.488000												
HSPA6	3310	broad.mit.edu	37	1	161495324	161495324	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:161495324C>T	uc001gaq.3	+	0	1289	c.876C>T	c.(874-876)ggC>ggT	p.G292G	TRNA_Gly_uc021pdc.1_5'Flank	NM_002155	NP_002146	P17066	HSP76_HUMAN	Homo sapiens heat shock 70kDa protein 6 (HSP70B') (HSPA6), mRNA.	292					response to unfolded protein		ATP binding			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TGTTCGAGGGCGTGGACTTCT	0.657000												
GPATCH1	55094	broad.mit.edu	37	19	33602674	33602674	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:33602674C>T	uc002nug.1	+	11	1944	c.1630C>T	c.(1630-1632)Cga>Tga	p.R544*	GPATCH1_uc002nuh.1_5'Flank	NM_018025	NP_060495	Q9BRR8	GPTC1_HUMAN	Homo sapiens G patch domain containing 1 (GPATCH1), mRNA.	544						catalytic step 2 spliceosome	nucleic acid binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					AGAGTGGGAGCGAGGCCGTGA	0.587000												
TLX1	3195	broad.mit.edu	37	10	102896498	102896498	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:102896498T>C	uc001ksw.3	+	2	1059	c.821T>C	c.(820-822)aTc>aCc	p.I274T	TLX1_uc021pxd.1_3'UTR	NM_005521	NP_005512	P31314	TLX1_HUMAN	Homo sapiens T-cell leukemia homeobox 1 (TLX1), transcript variant 1, mRNA.	274						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|upper_aerodigestive_tract(1)	2				Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		GCGAACCGCATCCTCCTGCAG	0.667000			T	"""TRB@, TRD@"""	T-ALL							
DDX54	79039	broad.mit.edu	37	12	113612541	113612541	+	Silent	SNP	A	A	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:113612541A>T	uc001tuq.4	-	9	1000	c.972T>A	c.(970-972)gcT>gcA	p.A324A	DDX54_uc001tup.3_Silent_p.A324A	NM_001111322	NP_001104792	Q8TDD1	DDX54_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 54 (DDX54), transcript variant 1, mRNA.	324					RNA processing|estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|estrogen receptor binding|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GCAGCACGGCAGCCTTGGTGT	0.657000											OREG0022139	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SPOCD1	90853	broad.mit.edu	37	1	32265460	32265460	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:32265460C>T	uc001bts.1	-	5	1791	c.1733G>A	c.(1732-1734)gGc>gAc	p.G578D	SPOCD1_uc001btu.3_Missense_Mutation_p.G578D|SPOCD1_uc001btv.3_Missense_Mutation_p.G71D|SPOCD1_uc021oks.1_5'Flank|SPOCD1_uc001btw.1_5'Flank	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	Homo sapiens SPOC domain containing 1 (SPOCD1), mRNA.	578					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CTCCATTGGGCCACTCTGTAG	0.622000												
PLAT	5327	broad.mit.edu	37	8	42038027	42038027	+	Missense_Mutation	SNP	C	C	T	rs140012141		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:42038027C>T	uc003xos.2	-	9	1275	c.1066G>A	c.(1066-1068)Gcc>Acc	p.A356T	PLAT_uc010lxf.1_Missense_Mutation_p.A273T|PLAT_uc010lxg.1_Missense_Mutation_p.A181T|PLAT_uc003xot.2_Missense_Mutation_p.A310T|PLAT_uc011lcm.1_Missense_Mutation_p.A267T|PLAT_uc011lcn.1_Missense_Mutation_p.A230T	NM_000930	NP_000921	P00750	TPA_HUMAN	Homo sapiens plasminogen activator, tissue (PLAT), transcript variant 1, mRNA.	356	Peptidase S1.				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	AAGCAGTGGGCGGCAGAGAGA	0.592000												
PIWIL1	9271	broad.mit.edu	37	12	130842068	130842068	+	Silent	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:130842068A>G	uc001uik.3	+	13	1906	c.1635A>G	c.(1633-1635)ttA>ttG	p.L545L	PIWIL1_uc001uij.2_Silent_p.L545L	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN	Homo sapiens piwi-like 1 (Drosophila) (PIWIL1), transcript variant 1, mRNA.	545	RNA-binding (By similarity).				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	P granule|chromatoid body	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		TAAGAGTCTTACAGCAAAAGG	0.418000												
URB2	9816	broad.mit.edu	37	1	229771702	229771702	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:229771702G>A	uc001hts.1	+	3	1478	c.1342G>A	c.(1342-1344)Gcc>Acc	p.A448T	URB2_uc009xfd.1_Missense_Mutation_p.A448T	NM_014777	NP_055592	Q14146	URB2_HUMAN	Homo sapiens URB2 ribosome biogenesis 2 homolog (S. cerevisiae) (URB2), mRNA.	448						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						AACCAAAAAAGCCCAGGAGGC	0.493000												
USH2A	7399	broad.mit.edu	37	1	216595645	216595645	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:216595645A>C	uc001hku.1	-	1	421	c.34T>G	c.(34-36)Ttc>Gtc	p.F12V	USH2A_uc001hkv.3_Missense_Mutation_p.F12V	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	12					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGAAACAAGAAGCCAGAGCCC	0.423000										HNSCC(13;0.011)		
SPG20	23111	broad.mit.edu	37	13	36878523	36878523	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:36878523C>T	uc001uvn.3	-	9	2250	c.1980G>A	c.(1978-1980)gaG>gaA	p.E660E	SPG20_uc010ten.2_Silent_p.E650E|SPG20_uc001uvm.3_Silent_p.E660E|SPG20_uc001uvo.3_Silent_p.E660E|SPG20_uc001uvq.3_Silent_p.E660E	NM_001142296	NP_055902	Q8N0X7	SPG20_HUMAN	Homo sapiens spastic paraplegia 20 (Troyer syndrome) (SPG20), transcript variant 2, mRNA.	660					cell death	cytoplasm	ubiquitin protein ligase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		TCTTCTTTGCCTCCTTTACTT	0.388000												
EVL	51466	broad.mit.edu	37	14	100595920	100595920	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:100595920C>T	uc001ygu.3	+	6	825	c.738C>T	c.(736-738)ggC>ggT	p.G246G	EVL_uc001ygt.3_Silent_p.G244G|EVL_uc001ygv.2_Silent_p.G250G	NM_016337	NP_057421	Q9UI08	EVL_HUMAN	Homo sapiens Enah/Vasp-like (EVL), mRNA.	244	EVH2.				actin polymerization or depolymerization|axon guidance|cell surface receptor linked signaling pathway|organ morphogenesis	cytoskeleton|cytosol|focal adhesion|lamellipodium	SH3 domain binding|actin binding|profilin binding			cervix(1)|large_intestine(5)|lung(3)|ovary(3)|urinary_tract(2)	14		Melanoma(154;0.152)				CATCTGGAGGCTCCAGTCCCA	0.587000												
ERAL1	26284	broad.mit.edu	37	17	27187476	27187476	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:27187476G>A	uc002hcy.1	+	9	1229	c.1219G>A	c.(1219-1221)Gtg>Atg	p.V407M	ERAL1_uc002hcz.1_Non-coding_Transcript|ERAL1_uc002hda.1_Missense_Mutation_p.V214M|MIR451B_uc021ttw.1_5'Flank	NM_005702	NP_005693	O75616	ERAL1_HUMAN	Homo sapiens Era G-protein-like 1 (E. coli) (ERAL1), mRNA.	407	KH type-2.				ribosomal small subunit assembly	mitochondrial inner membrane|mitochondrial matrix	GTP binding|rRNA binding|ribosomal small subunit binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)			GAAGGGCCACGTGATCTCCCA	0.547000												
PLCB2	5330	broad.mit.edu	37	15	40585208	40585208	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:40585208C>T	uc001zld.3	-	20	2546	c.2245G>A	c.(2245-2247)Gcc>Acc	p.A749T	PLCB2_uc001zlc.3_5'Flank|PLCB2_uc010bbo.3_Missense_Mutation_p.A745T|PLCB2_uc010ucm.2_Missense_Mutation_p.A749T	NM_004573	NP_004564	Q00722	PLCB2_HUMAN	Homo sapiens phospholipase C, beta 2 (PLCB2), mRNA.	749	C2.				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		CTGAGGGAGGCCAGCTCAGGC	0.577000												
TRPV4	59341	broad.mit.edu	37	12	110240894	110240894	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:110240894C>T	uc001tpj.2	-	2	709	c.614G>A	c.(613-615)gGc>gAc	p.G205D	TRPV4_uc001tpg.2_Missense_Mutation_p.G171D|TRPV4_uc021rdp.1_Missense_Mutation_p.G205D|TRPV4_uc001tph.2_Missense_Mutation_p.G205D|TRPV4_uc001tpi.2_Missense_Mutation_p.G205D|TRPV4_uc001tpk.2_Missense_Mutation_p.G205D	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 1, mRNA.	205					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	SH2 domain binding|actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding	p.N204Y(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						GTCGTTGCGGCCATTGCTCAG	0.577000												
DYNC1H1	1778	broad.mit.edu	37	14	102469005	102469005	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:102469005G>T	uc001yks.2	+	21	4838	c.4674G>T	c.(4672-4674)aaG>aaT	p.K1558N		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	1558	Stem (By similarity).				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CAGATATCAAGCACCTGCTGC	0.522000												
AKAP8	10270	broad.mit.edu	37	19	15472567	15472567	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:15472567C>T	uc002nav.3	-	10	1439	c.1369G>A	c.(1369-1371)Gca>Aca	p.A457T	AKAP8_uc010dzy.3_Missense_Mutation_p.A6T|AKAP8_uc010dzz.1_Non-coding_Transcript|AKAP8_uc010xog.2_Missense_Mutation_p.A271T	NM_005858	NP_005849	O43823	AKAP8_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 8 (AKAP8), mRNA.	457					signal transduction	nuclear matrix				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						TTTGGTTTTGCGGTTTCTTTC	0.438000												
PSMC4	5704	broad.mit.edu	37	19	40486604	40486604	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:40486604A>G	uc002omq.3	+	9	1160	c.1123A>G	c.(1123-1125)Att>Gtt	p.I375V	PSMC4_uc002omr.3_Missense_Mutation_p.I344V	NM_006503	NP_006494	P43686	PRS6B_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, ATPase, 4 (PSMC4), transcript variant 1, mRNA.	375					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AGGAGCTGATATTAACTCCAT	0.522000												
CHD9	80205	broad.mit.edu	37	16	53331022	53331022	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:53331022G>A	uc002ehb.3	+	28	5829	c.5665G>A	c.(5665-5667)Gca>Aca	p.A1889T	CHD9_uc002egy.3_Missense_Mutation_p.A1889T|CHD9_uc002ehc.3_Missense_Mutation_p.A1889T|CHD9_uc002ehf.3_Missense_Mutation_p.A1003T|CHD9_uc002ehg.2_Missense_Mutation_p.A1003T|CHD9_uc010cbw.3_Missense_Mutation_p.A257T	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.	1889					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				ATATTTGTACGCATTCATGTC	0.378000												
NUDT12	83594	broad.mit.edu	37	5	102891660	102891660	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:102891660G>A	uc003koi.3	-	3	1029	c.936C>T	c.(934-936)ggC>ggT	p.G312G	NUDT12_uc011cvb.2_Silent_p.G294G	NM_031438	NP_113626	Q9BQG2	NUD12_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 12 (NUDT12), mRNA.	312						nucleus|peroxisome	NAD+ diphosphatase activity|metal ion binding			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		TATTATGGACGCCATTGAGAC	0.378000												
NSUN3	63899	broad.mit.edu	37	3	93803031	93803031	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:93803031A>G	uc003drl.1	+	2	319	c.203A>G	c.(202-204)gAt>gGt	p.D68G		NM_022072	NP_071355	Q9H649	NSUN3_HUMAN	Homo sapiens NOP2/Sun domain family, member 3 (NSUN3), mRNA.	68							methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	18						CTGGAAAAGGATTTACATTTG	0.413000												
SSTR3	6753	broad.mit.edu	37	22	37603530	37603530	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:37603530C>T	uc003ara.3	-	1	375	c.313G>A	c.(313-315)Gcc>Acc	p.A105T	SSTR3_uc003arb.3_Missense_Mutation_p.A105T|SSTR3_uc021wos.1_Missense_Mutation_p.A105T	NM_001051	NP_001042	P32745	SSR3_HUMAN	Homo sapiens somatostatin receptor 3 (SSTR3), mRNA.	105					G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity	p.A105A(1)		NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						TAGGACAGGGCGTTCTGGGCG	0.622000												
NALCN	259232	broad.mit.edu	37	13	102029307	102029307	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:102029307C>T	uc001vox.1	-	4	665	c.476G>A	c.(475-477)cGa>cAa	p.R159Q	NALCN_uc001voy.3_5'UTR|NALCN_uc001voz.2_Missense_Mutation_p.R159Q|NALCN_uc001vpa.2_Missense_Mutation_p.R159Q	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	159						integral to membrane	sodium channel activity|voltage-gated ion channel activity			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)					CAGTTCAAATCGGAAATAAAT	0.373000												
MACF1	23499	broad.mit.edu	37	1	39797772	39797772	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:39797772G>A	uc021olw.1	+	0	832	c.832G>A	c.(832-834)Gcc>Acc	p.A278T	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdb.1_Intron	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	1843	Actin-binding.|CH 2.				Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|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)			TGCTAAGATCGCCCTTGTGAT	0.488000												
SFMBT2	57713	broad.mit.edu	37	10	7247845	7247845	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:7247845A>T	uc009xio.2	-	11	1467	c.1376T>A	c.(1375-1377)aTg>aAg	p.M459K	SFMBT2_uc001ijn.2_Missense_Mutation_p.M459K|SFMBT2_uc010qay.2_Intron	NM_001018039	NP_001018049	Q5VUG0	SMBT2_HUMAN	Homo sapiens Scm-like with four mbt domains 2 (SFMBT2), transcript variant 2, mRNA.	459					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						GAAGATGTCCATGGATTCCAC	0.478000												
MAPKAPK3	7867	broad.mit.edu	37	3	50679181	50679181	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:50679181G>A	uc003day.2	+	5	1045	c.403G>A	c.(403-405)Gac>Aac	p.D135N	MAPKAPK3_uc003daz.2_Missense_Mutation_p.D135N|MAPKAPK3_uc003dba.2_Missense_Mutation_p.D135N|MAPKAPK3_uc010hlr.2_Missense_Mutation_p.D135N	NM_001243926	NP_001230855	Q16644	MAPK3_HUMAN	Homo sapiens mitogen-activated protein kinase-activated protein kinase 3 (MAPKAPK3), transcript variant 1, mRNA.	135	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity			central_nervous_system(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		GGAGCGTGGCGACCAGGCTTT	0.522000												
CDX4	1046	broad.mit.edu	37	X	72667389	72667389	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:72667389C>T	uc011mqk.2	+	0	300	c.300C>T	c.(298-300)gaC>gaT	p.D100D		NM_005193	NP_005184	O14627	CDX4_HUMAN	Homo sapiens caudal type homeobox 4 (CDX4), mRNA.	100						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					CGGTGAACGACGTGACCTCTA	0.647000												
RAPH1	65059	broad.mit.edu	37	2	204354353	204354353	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:204354353C>T	uc002vad.3	-	3	911	c.686G>A	c.(685-687)cGc>cAc	p.R229H	RAPH1_uc002vae.3_Missense_Mutation_p.R229H|RAPH1_uc002vaf.3_Missense_Mutation_p.R229H	NM_213589	NP_998754	Q70E73	RAPH1_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 (RAPH1), transcript variant 1, mRNA.	229					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTCTTGAGGGCGTGTTACTTT	0.403000												
MAD1L1	8379	broad.mit.edu	37	7	1997289	1997289	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:1997289G>A	uc003slh.1	-	15	1837	c.1571C>T	c.(1570-1572)gCa>gTa	p.A524V	MAD1L1_uc003sle.1_Missense_Mutation_p.A253V|MAD1L1_uc003slf.1_Missense_Mutation_p.A524V|MAD1L1_uc003slg.1_Missense_Mutation_p.A524V|MAD1L1_uc010ksh.1_Missense_Mutation_p.A524V|MAD1L1_uc003sli.1_Missense_Mutation_p.A432V|MAD1L1_uc010ksi.1_Missense_Mutation_p.A477V|MAD1L1_uc010ksj.3_Missense_Mutation_p.A524V	NM_001013836	NP_003541	Q9Y6D9	MD1L1_HUMAN	Homo sapiens MAD1 mitotic arrest deficient-like 1 (yeast) (MAD1L1), transcript variant 2, mRNA.	524	Necessary for interaction with NEK2.				cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		CTCCAGCTGTGCCTCCAGCAT	0.637000												
LRRC3B	116135	broad.mit.edu	37	3	26751777	26751777	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:26751777C>T	uc003cdp.3	+	1	1203	c.614C>T	c.(613-615)gCc>gTc	p.A205V	LRRC3B_uc003cdq.3_Missense_Mutation_p.A205V|LRRC3B_uc021wuj.1_Missense_Mutation_p.A205V	NM_052953	NP_443185	Q96PB8	LRC3B_HUMAN	Homo sapiens leucine rich repeat containing 3B (LRRC3B), mRNA.	205						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						ACCGATTATGCCATGCTGGTC	0.468000												
NR3C2	4306	broad.mit.edu	37	4	149075716	149075716	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:149075716G>A	uc003ilj.4	-	4	2714	c.2351C>T	c.(2350-2352)gCa>gTa	p.A784V	NR3C2_uc003ilk.4_Intron|NR3C2_uc010iph.3_Intron	NM_000901	NP_000892	P08235	MCR_HUMAN	Homo sapiens nuclear receptor subfamily 3, group C, member 2 (NR3C2), transcript variant 1, mRNA.	784	Important for coactivator binding.|Steroid-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	AAGTACCTTTGCCCACTTCAC	0.507000												
ARHGAP19	84986	broad.mit.edu	37	10	99019239	99019239	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:99019239C>T	uc001knb.3	-	4	806	c.760G>A	c.(760-762)Gca>Aca	p.A254T	ARHGAP19_uc001kmy.3_Non-coding_Transcript|ARHGAP19_uc001kna.3_Missense_Mutation_p.A245T|ARHGAP19_uc009xvj.3_Missense_Mutation_p.A254T|ARHGAP19_uc009xvi.3_Non-coding_Transcript|ARHGAP19_uc009xvk.3_Missense_Mutation_p.A48T	NM_032900	NP_116289	Q14CB8	RHG19_HUMAN	Homo sapiens Rho GTPase activating protein 19 (ARHGAP19), transcript variant 1, mRNA.	254	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	GTPase activator activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|urinary_tract(1)	13		Colorectal(252;0.0854)		Epithelial(162;7.65e-09)|all cancers(201;4.49e-07)		TGTTTCTTTGCTGTCTGGTAT	0.458000												
POU3F2	5454	broad.mit.edu	37	6	99283807	99283807	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:99283807G>A	uc003ppe.3	+	0	1228	c.1058G>A	c.(1057-1059)cGc>cAc	p.R353H		NM_005604	NP_005595	P20265	PO3F2_HUMAN	Homo sapiens POU class 3 homeobox 2 (POU3F2), mRNA.	353					positive regulation of cell proliferation		identical protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(5)	10		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		GCGCAAGGGCGCAAGCGGAAA	0.597000												
TXLNG	55787	broad.mit.edu	37	X	16838287	16838287	+	Splice_Site	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:16838287G>T	uc004cxq.2	+	3	463	c.407_splice	c.e3-1	p.G136_splice	TXLNG_uc010ney.2_Intron	NM_018360	NP_060830	Q9NUQ3	TXLNG_HUMAN	Homo sapiens taxilin gamma (TXLNG), transcript variant 1, mRNA.	136					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane				breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	15						TAACCATCAGGAAAAGAAGTT	0.388000												
SSH3	54961	broad.mit.edu	37	11	67077278	67077278	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:67077278C>T	uc001okj.3	+	11	1426	c.1248C>T	c.(1246-1248)ggC>ggT	p.G416G	SSH3_uc001okk.3_Non-coding_Transcript|SSH3_uc001okl.3_Silent_p.G270G	NM_017857	NP_060327	Q8TE77	SSH3_HUMAN	Homo sapiens slingshot homolog 3 (Drosophila) (SSH3), mRNA.	416	Tyrosine-protein phosphatase.				regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GCAAGATGGGCGTCAGCCGCT	0.657000												
CA6	765	broad.mit.edu	37	1	9005999	9005999	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:9005999G>A	uc001apm.3	+	0	78	c.54G>A	c.(52-54)caG>caA	p.Q18Q	CA6_uc021ofu.1_Non-coding_Transcript|CA6_uc009vmn.3_Silent_p.Q18Q	NM_001215	NP_001206	P23280	CAH6_HUMAN	Homo sapiens carbonic anhydrase VI (CA6), mRNA.	18					one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)		GCCAGGCCCAGCATGTGTCTG	0.562000												
PASK	23178	broad.mit.edu	37	2	242078072	242078072	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:242078072G>A	uc002wao.2	-	4	871	c.738C>T	c.(736-738)agC>agT	p.S246S	PASK_uc010zol.2_Silent_p.S60S|PASK_uc010zom.2_Silent_p.S246S|PASK_uc010fzl.2_Silent_p.S246S|PASK_uc010zon.2_Silent_p.S27S|PASK_uc021vzf.1_Silent_p.S246S|PASK_uc002waq.3_Silent_p.S246S	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	Homo sapiens PAS domain containing serine/threonine kinase (PASK), transcript variant 2, mRNA.	246					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CACTCACATCGCTCTGGAAAG	0.597000												
SPRY3	10251	broad.mit.edu	37	X	155003998	155003998	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:155003998C>T	uc022cio.1	+	0	465	c.465C>T	c.(463-465)tgC>tgT	p.C155C	SPRY3_uc004fnq.1_Silent_p.C155C	NM_005840	NP_005831	O43610	SPY3_HUMAN	Homo sapiens sprouty homolog 3 (Drosophila) (SPRY3), mRNA.	155	Cys-rich.|SPR.				multicellular organismal development|regulation of signal transduction	cytoplasm|membrane						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)					GCTGCAAGTGCGTCCCCTGCA	0.592000												
RP1L1	94137	broad.mit.edu	37	8	10480258	10480258	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:10480258G>A	uc003wtc.3	-	1	683	c.454C>T	c.(454-456)Cgg>Tgg	p.R152W		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	152					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		AGTATCCTCCGGGGGGTTTTA	0.582000												
SUPT5H	6829	broad.mit.edu	37	19	39949669	39949669	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:39949669C>T	uc002olo.4	+	6	593	c.414C>T	c.(412-414)ggC>ggT	p.G138G	SUPT5H_uc002olp.4_Silent_p.G138G|SUPT5H_uc002olq.4_Silent_p.G134G|SUPT5H_uc002oln.4_Silent_p.G138G|SUPT5H_uc002olr.4_Silent_p.G138G	NM_001111020	NP_003160	O00267	SPT5H_HUMAN	Homo sapiens suppressor of Ty 5 homolog (S. cerevisiae) (SUPT5H), transcript variant 2, mRNA.	138					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)			AAGAACTGGGCGAGTATTACA	0.567000												
KRT13	3860	broad.mit.edu	37	17	39658842	39658842	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:39658842G>A	uc002hwu.1	-	5	1091	c.1028C>T	c.(1027-1029)gCg>gTg	p.A343V	KRT13_uc002hwv.1_Missense_Mutation_p.A343V|KRT13_uc010wfr.2_Missense_Mutation_p.A236V|KRT13_uc010cxo.3_Missense_Mutation_p.A343V|KRT13_uc021txk.1_Missense_Mutation_p.A236V	NM_153490	NP_705694	P13646	K1C13_HUMAN	Homo sapiens keratin 13 (KRT13), transcript variant 1, mRNA.	343	Coil 2.|Rod.				epidermis development	intermediate filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				CTCCAGCCCCGCTTTCTGGTG	0.627000												
LILRA4	23547	broad.mit.edu	37	19	54848127	54848127	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:54848127C>T	uc002qfj.3	-	5	1297	c.1240G>A	c.(1240-1242)Gag>Aag	p.E414K	LILRA4_uc002qfi.3_Missense_Mutation_p.E348K	NM_012276	NP_036408	P59901	LIRA4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 (LILRA4), mRNA.	414						integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		ACCACGAGCTCCAGGGGCTCA	0.602000												
RXFP2	122042	broad.mit.edu	37	13	32355867	32355867	+	Missense_Mutation	SNP	C	C	T	rs144275111		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:32355867C>T	uc001utt.3	+	9	916	c.845C>T	c.(844-846)tCg>tTg	p.S282L	RXFP2_uc010aba.3_Missense_Mutation_p.S282L	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 2 (RXFP2), transcript variant 1, mRNA.	282						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		TCGTGCGATTCGCTCACAGTG	0.323000												
CAPN10	11132	broad.mit.edu	37	2	241537370	241537370	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:241537370C>T	uc002vzk.2	+	9	2005	c.1809C>T	c.(1807-1809)tgC>tgT	p.C603C	CAPN10_uc002vzp.2_Non-coding_Transcript|CAPN10_uc002vzm.2_Silent_p.C69C|CAPN10_uc002vzl.2_Silent_p.C448C|CAPN10_uc002vzn.2_Silent_p.C475C|CAPN10_uc002vzo.2_Non-coding_Transcript|CAPN10_uc010fzg.2_Non-coding_Transcript|CAPN10_uc002vzq.2_Intron	NM_023083	NP_075571	Q9HC96	CAN10_HUMAN	Homo sapiens calpain 10 (CAPN10), transcript variant 1, mRNA.	603	Domain III 2.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	SNARE binding|calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		TGCTGAGCTGCGTGCCACATC	0.682000												
EIF2S2	8894	broad.mit.edu	37	20	32677651	32677651	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:32677651C>T	uc002xaf.3	-	8	1056	c.887G>A	c.(886-888)cGa>cAa	p.R296Q		NM_003908	NP_003899	P20042	IF2B_HUMAN	Homo sapiens eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa (EIF2S2), mRNA.	296						cytosol|eukaryotic translation initiation factor 2 complex	metal ion binding|protein binding|translation initiation factor activity	p.R296G(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	11						GAAATAGAGTCGTGTGTCCTT	0.493000												
WSCD1	23302	broad.mit.edu	37	17	6023723	6023723	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:6023723C>T	uc010cli.3	+	8	1849	c.1470C>T	c.(1468-1470)taC>taT	p.Y490Y	WSCD1_uc002gcn.3_Silent_p.Y490Y|WSCD1_uc002gco.3_Silent_p.Y490Y|WSCD1_uc010clj.3_Silent_p.Y181Y	NM_015253	NP_056068	Q658N2	WSCD1_HUMAN	Homo sapiens WSC domain containing 1 (WSCD1), mRNA.	490						integral to membrane	sulfotransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						TGGTGCACTACGAGGAGCTGC	0.627000												
ANKRD5	63926	broad.mit.edu	37	20	10036276	10036276	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:10036276G>A	uc002wno.3	+	10	2692	c.2299G>A	c.(2299-2301)Gct>Act	p.A767T	LOC100131208_uc002wnn.2_Intron|ANKRD5_uc002wnp.3_Missense_Mutation_p.A767T|ANKRD5_uc010gbz.3_Missense_Mutation_p.A578T	NM_022096	NP_942093	Q9NU02	ANKR5_HUMAN	Homo sapiens ankyrin repeat domain 5 (ANKRD5), transcript variant 1, mRNA.	767							calcium ion binding			breast(2)|endometrium(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	37						CACAGAGAAAGCTCGAGCACT	0.458000												
PRKAR1A	5573	broad.mit.edu	37	17	66511578	66511578	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:66511578G>A	uc002jhg.3	+	1	218	c.38G>A	c.(37-39)cGc>cAc	p.R13H	PRKAR1A_uc002jhh.3_Missense_Mutation_p.R13H|PRKAR1A_uc002jhi.3_Missense_Mutation_p.R13H|PRKAR1A_uc002jhj.3_Missense_Mutation_p.R13H|PRKAR1A_uc002jhk.3_5'UTR|PRKAR1A_uc002jhl.3_Missense_Mutation_p.R13H	NM_212471	NP_997637	P10644	KAP0_HUMAN	Homo sapiens protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1) (PRKAR1A), transcript variant 2, mRNA.	13	Dimerization and phosphorylation.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding			adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					GAGGAGGCACGCAGCCTTCGA	0.483000			"""T, Mis, N, F, S"""	RET	papillary thyroid	"""myxoma, endocrine, papillary thyroid"""			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of			
ABCC10	89845	broad.mit.edu	37	6	43414079	43414079	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:43414079A>G	uc003ouy.1	+	15	3654	c.3439A>G	c.(3439-3441)Aca>Gca	p.T1147A	ABCC10_uc003ouz.1_Missense_Mutation_p.T1119A|ABCC10_uc010jyo.1_Missense_Mutation_p.T253A	NM_001198934	NP_001185863	Q5T3U5	MRP7_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA.	1147	ABC transmembrane type-1 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CACCAGTGCCACAATGCAGTG	0.597000												
WNT7A	7476	broad.mit.edu	37	3	13896046	13896046	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:13896046T>A	uc003bye.1	-	2	858	c.553A>T	c.(553-555)Aac>Tac	p.N185Y		NM_004625	NP_004616	O00755	WNT7A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 7A (WNT7A), mRNA.	185					Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway|activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of JNK cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						CCTGCCTCGTTGTTGTGCAAG	0.592000												
POTEA	340441	broad.mit.edu	37	8	43147674	43147674	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:43147674A>C	uc003xpz.1	+	0	90	c.47A>C	c.(46-48)aAg>aCg	p.K16T	POTEA_uc003xqa.1_Missense_Mutation_p.K16T	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN	Homo sapiens POTE ankyrin domain family, member A (POTEA), transcript variant 2, mRNA.	16										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CCTATGAAGAAGCCCTTTGGC	0.562000												
OR14J1	442191	broad.mit.edu	37	6	29274617	29274617	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:29274617C>T	uc011dln.2	+	0	151	c.151C>T	c.(151-153)Cgt>Tgt	p.R51C		NM_030946	NP_112208	Q9UGF5	O14J1_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily J, member 1 (OR14J1), mRNA.	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						TACCGTGGACCGTCGTCTCCA	0.468000												
PPP1R12B	4660	broad.mit.edu	37	1	202418206	202418206	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:202418206G>A	uc001gya.2	+	12	1907	c.1757G>A	c.(1756-1758)cGc>cAc	p.R586H		NM_002481	NP_002472	O60237	MYPT2_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 12B (PPP1R12B), transcript variant 1, mRNA.	586					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity	p.R586H(2)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			ATCACCAATCGCCCTCTTCCT	0.502000												
PPL	5493	broad.mit.edu	37	16	4933784	4933784	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:4933784C>T	uc002cyd.1	-	21	4962	c.4872G>A	c.(4870-4872)agG>agA	p.R1624R		NM_002705	NP_002696	O60437	PEPL_HUMAN	Homo sapiens periplakin (PPL), mRNA.	1624					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CCTTGGAGAGCCTCTTGAGGT	0.627000												
ZBTB2	57621	broad.mit.edu	37	6	151687601	151687601	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:151687601G>A	uc003qoh.3	-	2	735	c.600C>T	c.(598-600)acC>acT	p.T200T		NM_020861	NP_065912	Q8N680	ZBTB2_HUMAN	Homo sapiens zinc finger and BTB domain containing 2 (ZBTB2), mRNA.	200					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		GAGACAGCGAGGTCTGCAGGG	0.597000												
CGGBP1	8545	broad.mit.edu	37	3	88104713	88104713	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:88104713G>A	uc003dqs.3	-	3	926	c.414C>T	c.(412-414)ggC>ggT	p.G138G	CGGBP1_uc003dqt.3_Silent_p.G138G|CGGBP1_uc003dqu.3_Silent_p.G138G|CGGBP1_uc021xbe.1_Silent_p.G138G	NM_001008390	NP_003654	Q9UFW8	CGBP1_HUMAN	Homo sapiens CGG triplet repeat binding protein 1 (CGGBP1), transcript variant 1, mRNA.	138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding			kidney(1)|large_intestine(2)|lung(2)	5		Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00359)|Lung(72;0.00677)		TAGGTATGGAGCCTCCATTCT	0.478000												
FAM71D	161142	broad.mit.edu	37	14	67671596	67671596	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:67671596C>T	uc001xja.2	+	4	992	c.702C>T	c.(700-702)ttC>ttT	p.F234F	FAM71D_uc010aqn.2_Non-coding_Transcript	NM_173526	NP_775797	Q8N9W8	FA71D_HUMAN	Homo sapiens family with sequence similarity 71, member D (FAM71D), mRNA.	234										breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)	13		all_hematologic(31;0.0116)		all cancers(60;0.00107)|BRCA - Breast invasive adenocarcinoma(234;0.00993)|OV - Ovarian serous cystadenocarcinoma(108;0.012)		GCATAGATTTCCCAGAATTCA	0.498000												
IL4I1	259307	broad.mit.edu	37	19	50393017	50393017	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:50393017C>T	uc002pqv.2	-	10	2470	c.1641G>A	c.(1639-1641)tcG>tcA	p.S547S	IL4I1_uc002pqt.1_Silent_p.S538S|IL4I1_uc021uxy.1_Silent_p.S560S|IL4I1_uc002pqu.2_Silent_p.S560S|IL4I1_uc010eno.2_Silent_p.S546S	NM_152899	NP_690863	Q96RQ9	OXLA_HUMAN	Homo sapiens interleukin 4 induced 1 (IL4I1), transcript variant 1, mRNA.	538						lysosome	L-amino-acid oxidase activity			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)		CCAGGTCATGCGAGGGGCTGC	0.617000												
GABRA4	2557	broad.mit.edu	37	4	46967169	46967169	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:46967169C>T	uc003gxg.3	-	7	1935	c.952G>A	c.(952-954)Gcc>Acc	p.A318T	GABRA4_uc021xnz.1_Missense_Mutation_p.A299T|GABRA4_uc021xoa.1_Missense_Mutation_p.A248T	NM_000809	NP_000800	P48169	GBRA4_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 4 (GABRA4), transcript variant 1, mRNA.	318					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity	p.A318T(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CAGTCCATGGCGGTAGCATAG	0.438000												
UBR4	23352	broad.mit.edu	37	1	19524463	19524463	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:19524463G>A	uc001bbi.3	-	5	733	c.729C>T	c.(727-729)aaC>aaT	p.N243N		NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	243					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)		GACTAGCCACGTTCTGAGCTA	0.418000												
ANGPT1	284	broad.mit.edu	37	8	108264151	108264151	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:108264151G>A	uc003ymn.3	-	8	1897	c.1429C>T	c.(1429-1431)Cac>Tac	p.H477Y	ANGPT1_uc011lhv.2_Missense_Mutation_p.H277Y|ANGPT1_uc003ymo.3_Missense_Mutation_p.H476Y	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	Homo sapiens angiopoietin 1 (ANGPT1), transcript variant 1, mRNA.	477	Fibrinogen C-terminal.				Tie receptor signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of ERK1 and ERK2 cascade|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			TTGAAGTAGTGCCACTTTATC	0.418000												
SYNE2	23224	broad.mit.edu	37	14	64676162	64676162	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:64676162C>T	uc001xgl.3	+	101	18636	c.18406C>T	c.(18406-18408)Cgc>Tgc	p.R6136C	SYNE2_uc001xgm.3_Missense_Mutation_p.R6136C|SYNE2_uc010apy.3_Missense_Mutation_p.R2521C|SYNE2_uc001xgn.3_Missense_Mutation_p.R1098C|SYNE2_uc021rui.1_Missense_Mutation_p.R1143C|SYNE2_uc001xgo.3_Non-coding_Transcript|SYNE2_uc010aqa.3_Missense_Mutation_p.R106C|SYNE2_uc001xgq.3_Missense_Mutation_p.R501C|SYNE2_uc001xgr.3_5'UTR	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	6136					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GGAGACGTGGCGCCTGTGGCA	0.527000												
ZNF616	90317	broad.mit.edu	37	19	52619372	52619372	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:52619372C>A	uc002pym.3	-	3	1328	c.1045G>T	c.(1045-1047)Gga>Tga	p.G349*	ZNF616_uc002pyn.3_Non-coding_Transcript	NM_178523	NP_848618	Q08AN1	ZN616_HUMAN	Homo sapiens zinc finger protein 616 (ZNF616), mRNA.	349					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		GGTTTCTTTCCTGCATGGATT	0.408000												
ETF1	2107	broad.mit.edu	37	5	137848611	137848611	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:137848611G>A	uc003ldc.4	-	5	739	c.574C>T	c.(574-576)Cgt>Tgt	p.R192C	ETF1_uc011cyv.2_Missense_Mutation_p.R178C|ETF1_uc010jex.3_Non-coding_Transcript|ETF1_uc003ldd.4_Missense_Mutation_p.R159C|ETF1_uc010jey.1_5'UTR	NM_004730	NP_004721	P62495	ERF1_HUMAN	Homo sapiens eukaryotic translation termination factor 1 (ETF1), transcript variant 1, mRNA.	192					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation|regulation of translational termination	cytoplasm	protein binding|ribosome binding|translation release factor activity, codon specific			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			ATTCTTAAACGGGCAAAACGC	0.403000												
ZDBF2	57683	broad.mit.edu	37	2	207175899	207175899	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:207175899G>A	uc002vbp.2	+	4	6897	c.6647G>A	c.(6646-6648)cGg>cAg	p.R2216Q		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	2216							nucleic acid binding|zinc ion binding	p.I2215I(1)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						ATTTGGATTCGGACCAAACCA	0.358000												
ZPBP2	124626	broad.mit.edu	37	17	38024850	38024850	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:38024850G>A	uc002hte.3	+	1	254	c.101G>A	c.(100-102)gGc>gAc	p.G34D	ZPBP2_uc002htf.3_Intron	NM_199321	NP_955353	Q6X784	ZPBP2_HUMAN	Homo sapiens zona pellucida binding protein 2 (ZPBP2), transcript variant 2, mRNA.	34					binding of sperm to zona pellucida	extracellular region				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			TTCATTTATGGCAAGACAGGA	0.517000												
AEN	64782	broad.mit.edu	37	15	89172498	89172498	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:89172498G>A	uc002bmt.2	+	2	733	c.582G>A	c.(580-582)gcG>gcA	p.A194A	AEN_uc010bnm.1_Silent_p.A194A	NM_022767	NP_073604	Q8WTP8	AEN_HUMAN	Homo sapiens apoptosis enhancing nuclease (AEN), mRNA.	194	Exonuclease.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|apoptosis|response to ionizing radiation	nucleolus|nucleoplasm	exonuclease activity|nucleic acid binding	p.A194V(1)		NS(1)|kidney(1)|large_intestine(1)|lung(4)	7						TGGGGCACGCGCTGCACAACG	0.607000												
LRP2	4036	broad.mit.edu	37	2	170026232	170026232	+	Missense_Mutation	SNP	G	G	A	rs142613924		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:170026232G>A	uc002ues.3	-	59	11690	c.11477C>T	c.(11476-11478)gCg>gTg	p.A3826V		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	3826	LDL-receptor class A 33.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TTCATCAGACGCATCCAAACA	0.453000												
CRABP1	1381	broad.mit.edu	37	15	78635882	78635882	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:78635882G>A	uc002bdp.2	+	2	396	c.291G>A	c.(289-291)acG>acA	p.T97T		NM_004378	NP_004369	P29762	RABP1_HUMAN	Homo sapiens cellular retinoic acid binding protein 1 (CRABP1), mRNA.	97					multicellular organismal development|signal transduction	cytoplasm	retinal binding|retinol binding|transporter activity	p.T97T(2)		breast(1)|lung(4)|skin(1)	6					Alitretinoin(DB00523)|Etretinate(DB00926)	TCCACTGCACGCAAACTCTTC	0.512000												
HOXB8	3218	broad.mit.edu	37	17	46690756	46690756	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:46690756C>T	uc002inw.3	-	1	775	c.540G>A	c.(538-540)tcG>tcA	p.S180S	HOXB7_uc002inv.3_5'Flank	NM_024016	NP_076921	P17481	HXB8_HUMAN	Homo sapiens homeobox B8 (HOXB8), mRNA.	180						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(8)|urinary_tract(2)	11						CCAGGGCGTGCGATACCTCGA	0.532000												
TMEM190	147744	broad.mit.edu	37	19	55889054	55889054	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:55889054G>A	uc002qkt.1	+	2	206	c.188G>A	c.(187-189)cGc>cAc	p.R63H		NM_139172	NP_631911	Q8WZ59	TM190_HUMAN	Homo sapiens transmembrane protein 190 (TMEM190), mRNA.	63	P-type.					integral to membrane				large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	5	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		TGCTGCTACCGCAATGGGGTC	0.687000												
CPB1	1360	broad.mit.edu	37	3	148558742	148558742	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:148558742C>T	uc003ewl.3	+	4	477	c.454C>T	c.(454-456)Cgc>Tgc	p.R152C		NM_001871	NP_001862	P15086	CBPB1_HUMAN	Homo sapiens carboxypeptidase B1 (tissue) (CPB1), mRNA.	152					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	p.R152C(2)|p.G151V(1)|p.R152H(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			ATTTGAGGGACGCGCTATTTA	0.428000												
ANKRD17	26057	broad.mit.edu	37	4	74017203	74017203	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:74017203C>T	uc003hgp.3	-	6	1390	c.1273G>A	c.(1273-1275)Gcg>Acg	p.A425T	ANKRD17_uc003hgo.3_Missense_Mutation_p.A312T|ANKRD17_uc003hgq.3_Missense_Mutation_p.A425T|ANKRD17_uc003hgr.3_Missense_Mutation_p.A425T|ANKRD17_uc011cbd.1_Missense_Mutation_p.A54T	NM_032217	NP_115593	O75179	ANR17_HUMAN	Homo sapiens ankyrin repeat domain 17 (ANKRD17), transcript variant 1, mRNA.	425					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	p.A425V(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TCTTGATCCGCGCCTGCTTCC	0.333000												
PHIP	55023	broad.mit.edu	37	6	79668246	79668246	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:79668246C>T	uc011dyp.2	-	31	3951	c.3725G>A	c.(3724-3726)aGc>aAc	p.S1242N	PHIP_uc003piq.3_Missense_Mutation_p.S267N|PHIP_uc003pir.3_Missense_Mutation_p.S1243N|PHIP_uc003pio.4_Missense_Mutation_p.S129N	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN	Homo sapiens pleckstrin homology domain interacting protein (PHIP), mRNA.	1243	Bromo 1.				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		CACAATAGGGCTTCCAGGCTC	0.289000												
CD79A	973	broad.mit.edu	37	19	42383170	42383170	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:42383170G>A	uc002orv.3	+	1	375	c.190G>A	c.(190-192)Gtc>Atc	p.V64I	CD79A_uc002oru.3_Missense_Mutation_p.V64I	NM_001783	NP_001774	P11912	CD79A_HUMAN	Homo sapiens CD79a molecule, immunoglobulin-associated alpha (CD79A), transcript variant 1, mRNA.	64	Ig-like C2-type.				B cell differentiation|B cell proliferation|B cell receptor signaling pathway	B cell receptor complex|external side of plasma membrane|integral to membrane|membrane raft|multivesicular body	transmembrane receptor activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11						CAACGCCAACGTCACCTGGTG	0.602000			"""O, S"""		DLBCL							
DIP2A	23181	broad.mit.edu	37	21	47986475	47986475	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr21:47986475C>T	uc002zjo.2	+	36	4525	c.4342C>T	c.(4342-4344)Cgg>Tgg	p.R1448W	DIP2A_uc011afz.1_Missense_Mutation_p.R1444W|DIP2A_uc002zjs.2_Missense_Mutation_p.R128W|DIP2A_uc002zjt.2_Non-coding_Transcript	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog A (Drosophila) (DIP2A), transcript variant 1, mRNA.	1448					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GTTCACAGGGCGGCACGATGC	0.562000												
SETD5	55209	broad.mit.edu	37	3	9476021	9476021	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:9476021A>G	uc003brt.3	+	4	616	c.181A>G	c.(181-183)Atc>Gtc	p.I61V	SETD5_uc003brs.1_Missense_Mutation_p.I42V|SETD5_uc003bru.3_5'UTR|SETD5_uc003brv.3_5'UTR	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN	Homo sapiens SET domain containing 5 (SETD5), mRNA.	61										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)		TGTCCAGACGATCATCCCTCG	0.517000												
TTN	7273	broad.mit.edu	37	2	179575896	179575896	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:179575896G>A	uc021vsy.1	-	93	24560	c.24335C>T	c.(24334-24336)gCc>gTc	p.A8112V	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.A4773V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9039	Ig-like 63.						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)			ATTGAGTGTGGCTGTATTGTC	0.448000												
SYNM	23336	broad.mit.edu	37	15	99671250	99671250	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:99671250G>A	uc002bup.3	+	4	2802	c.2682G>A	c.(2680-2682)gcG>gcA	p.A894A	SYNM_uc002buo.3_Silent_p.A894A|SYNM_uc002buq.3_Intron	NM_145728	NP_663780	O15061	SYNEM_HUMAN	Homo sapiens synemin, intermediate filament protein (SYNM), transcript variant A, mRNA.	895	Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						ATGTCCCAGCGCCCTCTCTGG	0.527000												
CUBN	8029	broad.mit.edu	37	10	16970170	16970170	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:16970170G>A	uc001ioo.3	-	40	6309	c.6257C>T	c.(6256-6258)gCa>gTa	p.A2086V		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	2086	CUB 14.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GTGAAAGGATGCATTGAAGCC	0.443000												
SMG6	23293	broad.mit.edu	37	17	1964860	1964860	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:1964860G>A	uc002fub.1	-	18	4241	c.4186C>T	c.(4186-4188)Cgt>Tgt	p.R1396C	SMG6_uc010vqv.1_Missense_Mutation_p.R488C|SMG6_uc002fud.2_Missense_Mutation_p.R1365C|SMG6_uc021tno.1_Non-coding_Transcript	NM_017575	NP_060045	Q86US8	EST1A_HUMAN	Homo sapiens smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG6), transcript variant 1, mRNA.	1396	PINc.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GCCTTCACACGCAGGTTCCGG	0.642000												
ENTPD4	9583	broad.mit.edu	37	8	23294525	23294525	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:23294525G>A	uc003xdl.3	-	9	1568	c.1296C>T	c.(1294-1296)tcC>tcT	p.S432S	ENTPD4_uc011kzu.1_Silent_p.S424S|ENTPD4_uc003xdm.3_Silent_p.S424S|ENTPD4_uc011kzv.1_Silent_p.S432S	NM_004901	NP_004892	Q9Y227	ENTP4_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 4 (ENTPD4), transcript variant 1, mRNA.	432					UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		AGTAGAATTCGGAGAAGCCAT	0.473000												
CACNA2D4	93589	broad.mit.edu	37	12	2024074	2024074	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:2024074G>A	uc021qsx.1	-	1	486	c.255C>T	c.(253-255)ggC>ggT	p.G85G	CACNA2D4_uc009zds.2_Non-coding_Transcript|CACNA2D4_uc009zdt.1_Silent_p.G85G	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4 (CACNA2D4), mRNA.	85						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.G85G(1)		endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		ACAGGTCCCCGCCGAAGGTGT	0.542000												
MCM9	254394	broad.mit.edu	37	6	119238739	119238739	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:119238739G>A	uc021zeh.1	-	3	906	c.891C>T	c.(889-891)agC>agT	p.S297S	MCM9_uc003pyh.3_Silent_p.S297S	NM_017696	NP_060166	Q9NXL9	MCM9_HUMAN	Homo sapiens minichromosome maintenance complex component 9 (MCM9), transcript variant 1, mRNA.	297					DNA replication		ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)		CAAAGGGATCGCTCTTATAGT	0.353000												
MAN2B2	23324	broad.mit.edu	37	4	6612965	6612965	+	Silent	SNP	G	G	A	rs138297924	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:6612965G>A	uc003gjf.1	+	14	2559	c.2523G>A	c.(2521-2523)gcG>gcA	p.A841A	MAN2B2_uc003gje.1_Silent_p.A841A|MAN2B2_uc011bwf.1_Silent_p.A790A	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN	Homo sapiens mannosidase, alpha, class 2B, member 2 (MAN2B2), mRNA.	841					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						GCGCACTGGCGCTGCAGCACA	0.637000												
SCEL	8796	broad.mit.edu	37	13	78188060	78188060	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:78188060T>C	uc001vki.3	+	23	1591	c.1421T>C	c.(1420-1422)gTc>gCc	p.V474A	SCEL_uc010thx.2_Missense_Mutation_p.V432A|SCEL_uc001vkj.3_Missense_Mutation_p.V454A	NM_144777	NP_659001	O95171	SCEL_HUMAN	Homo sapiens sciellin (SCEL), transcript variant 1, mRNA.	474	16 X approximate tandem repeats.				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		CATATTAATGTCAGCCCCAAA	0.338000												
TENC1	23371	broad.mit.edu	37	12	53446255	53446255	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:53446255G>A	uc001sbp.3	+	2	336	c.201G>A	c.(199-201)acG>acA	p.T67T	LOC283335_uc001sbk.1_Intron|TENC1_uc001sbl.3_5'UTR|TENC1_uc001sbm.3_Silent_p.T77T|TENC1_uc001sbn.3_Silent_p.T77T|TENC1_uc001sbo.1_Silent_p.T67T	NM_170754	NP_938072	Q63HR2	TENC1_HUMAN	Homo sapiens tensin like C1 domain containing phosphatase (tensin 2) (TENC1), transcript variant 2, mRNA.	67					intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding	p.A66A(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						AGGTGGCGACGCACAGAAAAT	0.567000												
KIAA2026	158358	broad.mit.edu	37	9	5922824	5922824	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:5922824T>C	uc003zjq.4	-	7	3388	c.3172A>G	c.(3172-3174)Aca>Gca	p.T1058A	KIAA2026_uc010mht.3_Missense_Mutation_p.T233A	NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN	Homo sapiens KIAA2026 (KIAA2026), mRNA.	1058										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		GGACCTTTTGTATTGGTGTGG	0.458000												
FAM110B	90362	broad.mit.edu	37	8	59058997	59058997	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:59058997G>A	uc022auu.1	+	0	208	c.208G>A	c.(208-210)Gcc>Acc	p.A70T	FAM110B_uc003xtj.1_Missense_Mutation_p.A70T	NM_147189	NP_671722	Q8TC76	F110B_HUMAN	Homo sapiens family with sequence similarity 110, member B (FAM110B), mRNA.	70						microtubule organizing center|mitochondrion|nucleus				breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				GGTGATCAACGCCAAGCAGGA	0.682000												
CHORDC1	26973	broad.mit.edu	37	11	89938663	89938663	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:89938663T>C	uc001pdg.2	-	7	1044	c.634A>G	c.(634-636)Aca>Gca	p.T212A	CHORDC1_uc009yvz.2_Missense_Mutation_p.T193A	NM_012124	NP_036256	Q9UHD1	CHRD1_HUMAN	Homo sapiens cysteine and histidine-rich domain (CHORD) containing 1 (CHORDC1), transcript variant 1, mRNA.	212	CHORD 2.|Interaction with HSP90AA1 and HSP90AB1 (By similarity).				chaperone-mediated protein folding|regulation of response to stress|response to stress		Hsp90 protein binding|identical protein binding			endometrium(2)|large_intestine(2)|liver(1)|lung(6)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915)				TTCCCTTTTGTACAGCCCTCT	0.323000												
TNXB	7148	broad.mit.edu	37	6	32041456	32041456	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:32041456C>T	uc003nzl.2	-	11	4851	c.4649G>A	c.(4648-4650)cGc>cAc	p.R1550H		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1637					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						GGGGCCCATGCGTTGCCCATC	0.567000												
ZNF555	148254	broad.mit.edu	37	19	2852932	2852932	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:2852932C>T	uc002lwo.3	+	3	1007	c.869C>T	c.(868-870)gCg>gTg	p.A290V	ZNF555_uc002lwn.4_Missense_Mutation_p.A289V	NM_152791	NP_690004	Q8NEP9	ZN555_HUMAN	Homo sapiens zinc finger protein 555 (ZNF555), transcript variant 1, mRNA.	290					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				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)		AAGGAATGTGCGGAAGCCTTT	0.403000												
AHNAK	79026	broad.mit.edu	37	11	62288822	62288822	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:62288822G>A	uc001ntl.3	-	4	13367	c.13067C>T	c.(13066-13068)gCc>gTc	p.A4356V	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	4356					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)				GACATCAGGGGCATCAATGTC	0.488000												
FXR1	8087	broad.mit.edu	37	3	180688056	180688056	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:180688056C>T	uc003fkq.3	+	14	1753	c.1513C>T	c.(1513-1515)Cgg>Tgg	p.R505W	FXR1_uc003fkp.3_Missense_Mutation_p.R420W|FXR1_uc003fkr.3_Missense_Mutation_p.R505W|FXR1_uc011bqj.2_Missense_Mutation_p.R419W|FXR1_uc003fks.3_Missense_Mutation_p.R448W|FXR1_uc011bqk.2_Missense_Mutation_p.R456W|FXR1_uc011bql.2_Missense_Mutation_p.R492W	NM_005087	NP_001013457	P51114	FXR1_HUMAN	Homo sapiens fragile X mental retardation, autosomal homolog 1 (FXR1), transcript variant 1, mRNA.	505	Poly-Arg.				apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			CCGTCGTAGGCGGTCTCGTAG	0.443000												
PKDREJ	10343	broad.mit.edu	37	22	46655302	46655302	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:46655302C>T	uc003bhh.3	-	0	3918	c.3918G>A	c.(3916-3918)tcG>tcA	p.S1306S		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	1306	PLAT.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ACCAGCTAGGCGATCGACCCT	0.458000												
TTC18	118491	broad.mit.edu	37	10	75071669	75071669	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:75071669C>T	uc009xrc.3	-	11	1418	c.1297G>A	c.(1297-1299)Gca>Aca	p.A433T	TTC18_uc001jty.3_Missense_Mutation_p.A433T|TTC18_uc009xrd.1_Missense_Mutation_p.A241T	NM_145170	NP_660153	Q5T0N1	TTC18_HUMAN	Homo sapiens tetratricopeptide repeat domain 18 (TTC18), mRNA.	433							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)					ATACTAGGTGCCTGCTGAAAG	0.393000												
AFP	174	broad.mit.edu	37	4	74318231	74318231	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:74318231C>T	uc003hgz.1	+	11	1589	c.1542C>T	c.(1540-1542)agC>agT	p.S514S	AFP_uc011cbg.1_Silent_p.S288S	NM_001134	NP_001125	P02771	FETA_HUMAN	Homo sapiens alpha-fetoprotein (AFP), mRNA.	514	Albumin 3.				transport		metal ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GCTTCAGCAGCTTGGTGGTGG	0.478000									Alpha-Fetoprotein, Hereditary Persistence of			
KCNF1	3754	broad.mit.edu	37	2	11053250	11053250	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:11053250T>C	uc002rax.3	+	0	1188	c.698T>C	c.(697-699)tTc>tCc	p.F233S		NM_002236	NP_002227	Q9H3M0	KCNF1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily F, member 1 (KCNF1), mRNA.	233						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		ATTGGCTGGTTCACCCTGGAG	0.632000												
KCNA6	3742	broad.mit.edu	37	12	4920535	4920535	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:4920535C>T	uc001qng.3	+	0	2194	c.1328C>T	c.(1327-1329)gCc>gTc	p.A443V	KCNA6_uc021qtr.1_Missense_Mutation_p.A443V	NM_002235	NP_002226	P17658	KCNA6_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 6 (KCNA6), mRNA.	443						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						TCGCTGTGTGCCATCGCTGGG	0.602000										HNSCC(72;0.22)		
BAZ1B	9031	broad.mit.edu	37	7	72891452	72891452	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:72891452C>T	uc003tyc.3	-	6	2691	c.2339G>A	c.(2338-2340)cGg>cAg	p.R780Q		NM_032408	NP_115784	Q9UIG0	BAZ1B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 1B (BAZ1B), mRNA.	780					ATP-dependent chromatin remodeling|DNA replication-dependent nucleosome disassembly|chromatin-mediated maintenance of transcription|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				CACAGCAAGCCGTTCCTTCCA	0.438000												
GRM1	2911	broad.mit.edu	37	6	146720492	146720492	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:146720492A>G	uc010khw.1	+	7	2787	c.2317A>G	c.(2317-2319)Aag>Gag	p.K773E	GRM1_uc010khv.1_Missense_Mutation_p.K773E|GRM1_uc003qll.2_Missense_Mutation_p.K773E|GRM1_uc011edz.1_Missense_Mutation_p.K773E|GRM1_uc011eea.1_Missense_Mutation_p.K773E	NM_000838	NP_000829	Q13255	GRM1_HUMAN	Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	773					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CTATGCCTTCAAGACCCGCAA	0.502000												
GRM2	2912	broad.mit.edu	37	3	51750038	51750038	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:51750038G>A	uc010hlv.3	+	3	2488	c.2249G>A	c.(2248-2250)cGc>cAc	p.R750H	GRM2_uc003dbo.4_Missense_Mutation_p.R132H|GRM2_uc010hlu.3_Non-coding_Transcript	NM_000839	NP_000830	Q14416	GRM2_HUMAN	Homo sapiens glutamate receptor, metabotropic 2 (GRM2), transcript variant 1, mRNA.	750					synaptic transmission	integral to plasma membrane		p.R750C(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	TTCAAGACTCGCAAGTGCCCC	0.547000												
BCKDHA	593	broad.mit.edu	37	19	41916541	41916541	+	Splice_Site	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:41916541G>A	uc002oqq.3	+	2	148	c.109_splice	c.e2-1	p.H37_splice	BCKDHA_uc002oqm.4_Splice_Site_p.H71_splice|BCKDHA_uc002oqp.2_Splice_Site|BCKDHA_uc002oqr.3_Splice_Site_p.H37_splice|BCKDHA_uc010xvz.2_Intron	NM_000709	NP_000700	P12694	ODBA_HUMAN	Homo sapiens branched chain keto acid dehydrogenase E1, alpha polypeptide (BCKDHA), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	37					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						CTCTTCCCCAGCACCCCCCCA	0.607000												
RHOH	399	broad.mit.edu	37	4	40245073	40245073	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:40245073C>T	uc003guz.2	+	2	791	c.67C>T	c.(67-69)Cgc>Tgc	p.R23C	RHOH_uc021xnp.1_Missense_Mutation_p.R23C	NM_004310	NP_004301	Q15669	RHOH_HUMAN	Homo sapiens ras homolog gene family, member H (RHOH), mRNA.	23					T cell differentiation|negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	cytosol|mitochondrion|plasma membrane	GTP binding|GTPase inhibitor activity|Rho GTPase binding|kinase inhibitor activity	p.R23H(1)		kidney(1)|large_intestine(3)|lung(7)|ovary(1)	12						TCTGTTGGTGCGCTTCACCTC	0.577000												
POM121	9883	broad.mit.edu	37	7	72413634	72413634	+	Silent	SNP	G	G	A	rs139238552	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:72413634G>A	uc003twk.2	+	10	3102	c.3102G>A	c.(3100-3102)acG>acA	p.T1034T	POM121_uc003twj.3_Silent_p.T769T|POM121_uc010lam.1_Silent_p.T769T	NM_172020	NP_742017	Q96HA1	P121A_HUMAN	Homo sapiens POM121 membrane glycoprotein (POM121), mRNA.	1034	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				GCGGTGCCACGCACTCGGCGT	0.652000												
MRPL4	51073	broad.mit.edu	37	19	10367487	10367487	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:10367487C>T	uc002mnm.3	+	5	585	c.431C>T	c.(430-432)cCg>cTg	p.P144L	MRPL4_uc002mnn.3_Missense_Mutation_p.P144L|MRPL4_uc002mno.3_Missense_Mutation_p.P144L	NM_146387	NP_666499	Q9BYD3	RM04_HUMAN	Homo sapiens mitochondrial ribosomal protein L4 (MRPL4), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	144					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11		Renal(1328;0.0112)	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06)	Lung(535;0.00705)		ATCCGCTCTCCGCTCTGGCGA	0.687000												
OR2D2	120776	broad.mit.edu	37	11	6913396	6913396	+	Silent	SNP	G	G	A	rs140944764		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:6913396G>A	uc010rau.2	-	0	336	c.336C>T	c.(334-336)tgC>tgT	p.C112C		NM_003700	NP_003691	Q9H210	OR2D2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily D, member 2 (OR2D2), mRNA.	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CAAGAAGGGCGCACTGGGTAC	0.488000												
FZD6	8323	broad.mit.edu	37	8	104312465	104312465	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:104312465A>G	uc003ylh.3	+	1	420	c.130A>G	c.(130-132)Aat>Gat	p.N44D	FZD6_uc011lhn.2_Missense_Mutation_p.N12D|FZD6_uc003ylj.3_Missense_Mutation_p.N44D|FZD6_uc011lho.2_5'UTR|FZD6_uc011lhp.2_5'UTR	NM_001164615	NP_001158088	O60353	FZD6_HUMAN	Homo sapiens frizzled family receptor 6 (FZD6), transcript variant 2, mRNA.	44	FZ.				G-protein signaling, coupled to cGMP nucleotide second messenger|angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			GTTTTTCCCTAATCTGATGGG	0.418000												
SPTBN2	6712	broad.mit.edu	37	11	66475138	66475138	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:66475138C>T	uc001ojd.3	-	11	1574	c.1502G>A	c.(1501-1503)cGc>cAc	p.R501H		NM_006946	NP_008877	O15020	SPTN2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 2 (SPTBN2), mRNA.	501					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						AGCGGCGATGCGCTTGATGTC	0.687000												
SLC5A5	6528	broad.mit.edu	37	19	17983460	17983460	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:17983460G>A	uc002nhr.4	+	0	679	c.332G>A	c.(331-333)cGc>cAc	p.R111H		NM_000453	NP_000444	Q92911	SC5A5_HUMAN	Homo sapiens solute carrier family 5 (sodium iodide symporter), member 5 (SLC5A5), mRNA.	111					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GTCTTCTACCGCCTGGGCCTC	0.667000												
ACADS	35	broad.mit.edu	37	12	121175675	121175675	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:121175675G>A	uc001tza.4	+	4	626	c.508G>A	c.(508-510)Gcc>Acc	p.A170T	ACADS_uc010szl.1_Intron	NM_000017	NP_000008	P16219	ACADS_HUMAN	Homo sapiens acyl-CoA dehydrogenase, C-2 to C-3 short chain (ACADS), nuclear gene encoding mitochondrial protein, mRNA.	170						mitochondrial matrix	butyryl-CoA dehydrogenase activity			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			NADH(DB00157)	GTCCACCACCGCCCGGGCCGA	0.652000												
MIA3	375056	broad.mit.edu	37	1	222803003	222803003	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:222803003G>A	uc001hnl.3	+	3	2450	c.2441G>A	c.(2440-2442)cGc>cAc	p.R814H	MIA3_uc009xea.1_Missense_Mutation_p.R650H	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	Homo sapiens melanoma inhibitory activity family, member 3 (MIA3), mRNA.	814					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		GAAAAAGAACGCCCTCTGGCA	0.418000												
LCP1	3936	broad.mit.edu	37	13	46716466	46716466	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:46716466C>T	uc001vaz.4	-	12	1589	c.1463G>A	c.(1462-1464)cGc>cAc	p.R488H	LCP1_uc010ack.3_Missense_Mutation_p.R57H|LCP1_uc001vay.4_Missense_Mutation_p.R85H|LCP1_uc001vba.4_Missense_Mutation_p.R488H	NM_002298	NP_002289	P13796	PLSL_HUMAN	Homo sapiens lymphocyte cytosolic protein 1 (L-plastin) (LCP1), mRNA.	488	Actin-binding 2.|CH 3.				T cell activation involved in immune response|regulation of intracellular protein transport	cell junction|cytosol|ruffle membrane	calcium ion binding	p.R488C(1)		breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|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;5.39e-05)		TGTGAGAGTGCGGTTTCCTTC	0.413000			T	BCL6	NHL							
LANCL1	10314	broad.mit.edu	37	2	211302452	211302452	+	Missense_Mutation	SNP	C	C	T	rs149749262	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:211302452C>T	uc010zjh.2	-	6	910	c.835G>A	c.(835-837)Gcc>Acc	p.A279T	LANCL1_uc002ved.3_Missense_Mutation_p.A279T|LANCL1_uc010fuq.3_Missense_Mutation_p.A279T	NM_001136574	NP_006046	O43813	LANC1_HUMAN	Homo sapiens LanC lantibiotic synthetase component C-like 1 (bacterial) (LANCL1), transcript variant 2, mRNA.	279						cytoplasm|integral to plasma membrane|microtubule cytoskeleton|nucleus	G-protein coupled receptor activity|SH3 domain binding|catalytic activity|glutathione binding|low-density lipoprotein particle receptor binding|zinc ion binding			breast(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12				Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)		ACCCCAGGGGCGCCATGGCAC	0.393000												
TTN	7273	broad.mit.edu	37	2	179417232	179417232	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:179417232T>C	uc021vsy.1	-	283	82916	c.82691A>G	c.(82690-82692)gAc>gGc	p.D27564G	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D21259G|TTN_uc021vta.1_Missense_Mutation_p.D21192G|TTN_uc021vtb.1_Missense_Mutation_p.D21067G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	28491	Fibronectin type-III 100.						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)			ATCTGACAGGTCAACTTCAGG	0.433000												
KCTD10	83892	broad.mit.edu	37	12	109898545	109898545	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:109898545C>T	uc001toj.1	-	2	2020	c.307G>A	c.(307-309)Gcg>Acg	p.A103T	KCTD10_uc001toh.1_5'Flank|KCTD10_uc009zvi.1_Missense_Mutation_p.A92T|KCTD10_uc001toi.1_Missense_Mutation_p.A95T|KCTD10_uc001tok.1_Intron	NM_031954	NP_114160	Q9H3F6	BACD3_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 10 (KCTD10), mRNA.	95					proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|nucleus|voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	10						AAAGGCACCGCCCCGTCTCGA	0.607000												
FGFR1	2260	broad.mit.edu	37	8	38271528	38271528	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:38271528G>A	uc022aua.1	-	16	3142	c.2200C>T	c.(2200-2202)Cgg>Tgg	p.R734W	FGFR1_uc010lwf.3_Non-coding_Transcript|FGFR1_uc011lbu.2_Missense_Mutation_p.R765W|FGFR1_uc011lbv.2_Missense_Mutation_p.R732W|FGFR1_uc011lbw.2_Missense_Mutation_p.R645W|FGFR1_uc003xlp.3_Missense_Mutation_p.R732W|FGFR1_uc022aub.1_Missense_Mutation_p.R732W|FGFR1_uc022auc.1_Missense_Mutation_p.R645W|FGFR1_uc022aud.1_Missense_Mutation_p.R643W|FGFR1_uc010lwk.3_Missense_Mutation_p.R724W	NM_023110	NP_075598	P11362	FGFR1_HUMAN	Homo sapiens fibroblast growth factor receptor 1 (FGFR1), transcript variant 1, mRNA.	734	Protein kinase.				MAPKKK cascade|axon guidance|cell growth|insulin receptor signaling pathway|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	CAGCAGTCCCGCATCATCATG	0.597000		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""					
FBXW12	285231	broad.mit.edu	37	3	48423521	48423521	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:48423521A>G	uc003csr.3	+	9	1427	c.1241A>G	c.(1240-1242)tAc>tGc	p.Y414C	FBXW12_uc010hjv.3_Missense_Mutation_p.Y395C|FBXW12_uc003css.3_Missense_Mutation_p.Y344C|FBXW12_uc010hjw.3_Missense_Mutation_p.Y313C	NM_207102	NP_996985	Q6X9E4	FBW12_HUMAN	Homo sapiens F-box and WD repeat domain containing 12 (FBXW12), transcript variant 1, mRNA.	414										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CGCCATCCATACCTCAGGAGC	0.483000												
RCC2	55920	broad.mit.edu	37	1	17743117	17743117	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:17743117G>A	uc001bal.3	-	6	934	c.885C>T	c.(883-885)atC>atT	p.I295I	RCC2_uc001bam.3_Silent_p.I295I	NM_001136204	NP_061185	Q9P258	RCC2_HUMAN	Homo sapiens regulator of chromosome condensation 2 (RCC2), transcript variant 2, mRNA.	295					cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle				breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		GTGCCCGGGCGATGAACTTCC	0.547000												
PGBD5	79605	broad.mit.edu	37	1	230492910	230492910	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:230492910C>T	uc010pwb.2	-	1	306	c.282G>A	c.(280-282)acG>acA	p.T94T		NM_024554	NP_078830	Q8N414	PGBD5_HUMAN	Homo sapiens piggyBac transposable element derived 5 (PGBD5), mRNA.	94						integral to membrane		p.T193T(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		TCTCCGTCAGCGTCACCTCCA	0.577000												
TKTL2	84076	broad.mit.edu	37	4	164393491	164393491	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:164393491C>T	uc003iqp.4	-	0	1557	c.1396G>A	c.(1396-1398)Gcc>Acc	p.A466T		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	Homo sapiens transketolase-like 2 (TKTL2), mRNA.	466						cytoplasm	metal ion binding|transketolase activity	p.A465D(1)|p.A465G(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TTGGTATTGGCGGCTAGATAA	0.463000												
ZNF275	10838	broad.mit.edu	37	X	152613249	152613249	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:152613249G>A	uc011myn.2	+	1	1819	c.917G>A	c.(916-918)cGc>cAc	p.R306H	ZNF275_uc004fhg.2_3'UTR|ZNF275_uc022cht.1_Missense_Mutation_p.R306H|ZNF275_uc022chu.1_5'Flank	NM_001080485	NP_001073954	A6NFS0	A6NFS0_HUMAN	Homo sapiens zinc finger protein 275 (ZNF275), mRNA.	285						intracellular	nucleic acid binding|zinc ion binding			endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AAGCACCGGCGCATCCACAGC	0.672000												
ODZ1	10178	broad.mit.edu	37	X	123517988	123517988	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:123517988C>T	uc010nqy.3	-	29	6857	c.6793G>A	c.(6793-6795)Gcg>Acg	p.A2265T	ODZ1_uc011muj.2_Missense_Mutation_p.A2264T|ODZ1_uc004euj.3_Missense_Mutation_p.A2258T	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	2258					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	p.A2260T(2)		NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						GACTTACTCGCGACACGTCGC	0.458000												
ABL2	27	broad.mit.edu	37	1	179077318	179077318	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:179077318G>A	uc001gmj.4	-	11	3371	c.3084C>T	c.(3082-3084)ggC>ggT	p.G1028G	ABL2_uc010pnf.2_Silent_p.G925G|ABL2_uc010png.2_Silent_p.G904G|ABL2_uc010pnh.2_Silent_p.G1007G|ABL2_uc001gmg.4_Silent_p.G910G|ABL2_uc001gmi.4_Silent_p.G1013G|ABL2_uc010pne.2_Silent_p.G889G	NM_007314	NP_009298	P42684	ABL2_HUMAN	Homo sapiens v-abl Abelson murine leukemia viral oncogene homolog 2 (ABL2), transcript variant b, mRNA.	1028	F-actin-binding (By similarity).|Pro-rich.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	TGGGCACTGCGCCCAGAGCTG	0.567000			T	ETV6	AML							
PAN2	9924	broad.mit.edu	37	12	56716264	56716264	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:56716264G>A	uc001skx.3	-	18	3029	c.2652C>T	c.(2650-2652)ggC>ggT	p.G884G	PAN2_uc001skw.3_Silent_p.G32G|PAN2_uc001sky.3_Silent_p.G880G|PAN2_uc001skz.3_Silent_p.G883G	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN	Homo sapiens PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN2), transcript variant 1, mRNA.	884					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						GGTGAGTAACGCCCTATGGAA	0.433000												
NFATC3	4775	broad.mit.edu	37	16	68160498	68160498	+	Silent	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:68160498A>G	uc002evo.2	+	2	1702	c.1386A>G	c.(1384-1386)ggA>ggG	p.G462G	NFATC3_uc010vkl.2_5'UTR|NFATC3_uc010vkm.2_5'UTR|NFATC3_uc010vkn.2_5'UTR|NFATC3_uc010vko.2_5'UTR|NFATC3_uc010vkp.2_5'UTR|NFATC3_uc010vkq.2_5'UTR|NFATC3_uc002evl.3_Intron|NFATC3_uc002evk.3_Silent_p.G462G|NFATC3_uc002evm.2_Silent_p.G462G|NFATC3_uc002evn.2_Silent_p.G462G|NFATC3_uc010vkr.2_5'UTR|NFATC3_uc010vks.2_5'UTR|NFATC3_uc010vkt.2_5'UTR|NFATC3_uc010vku.2_5'UTR|NFATC3_uc010vkv.2_5'UTR|NFATC3_uc010vkw.2_5'UTR|NFATC3_uc010vkx.2_5'UTR|NFATC3_uc010vky.2_5'UTR|NFATC3_uc010vkz.2_5'UTR|NFATC3_uc010vla.2_5'UTR|NFATC3_uc010vlb.2_5'UTR|NFATC3_uc010vlc.2_5'UTR	NM_173165	NP_775188	Q12968	NFAC3_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3 (NFATC3), transcript variant 1, mRNA.	462	RHD.				inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		CTACTGGGGGACATCCTGTTG	0.428000												
CCDC93	54520	broad.mit.edu	37	2	118732839	118732839	+	Silent	SNP	C	C	T	rs140835483		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:118732839C>T	uc002tlj.3	-	8	843	c.675G>A	c.(673-675)acG>acA	p.T225T	CCDC93_uc010fld.2_Silent_p.T281T	NM_019044	NP_061917	Q567U6	CCD93_HUMAN	Homo sapiens coiled-coil domain containing 93 (CCDC93), mRNA.	225										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						CTGGAAGTGCCGTTTTCTTGT	0.522000												
NLRP10	338322	broad.mit.edu	37	11	7982197	7982197	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:7982197G>A	uc001mfv.1	-	1	979	c.962C>T	c.(961-963)gCg>gTg	p.A321V		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	Homo sapiens NLR family, pyrin domain containing 10 (NLRP10), mRNA.	321	NACHT.						ATP binding	p.R320M(1)|p.A321A(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GAAGTACCTCGCCCTCTCCTC	0.512000												
CTBP2	1488	broad.mit.edu	37	10	126691653	126691653	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:126691653G>A	uc009yak.3	-	4	521	c.234C>T	c.(232-234)ggC>ggT	p.G78G	CTBP2_uc009yal.3_Silent_p.G78G|CTBP2_uc001lif.4_Silent_p.G78G|CTBP2_uc001lih.4_Silent_p.G78G|CTBP2_uc001lid.4_Silent_p.G146G|CTBP2_uc001lie.4_Silent_p.G618G	NM_001329	NP_001320	P56545	CTBP2_HUMAN	Homo sapiens C-terminal binding protein 2 (CTBP2), transcript variant 1, mRNA.	78					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		ACATCATGGCGCCCACGGCTT	0.632000												
MAPK14	1432	broad.mit.edu	37	6	36020576	36020576	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:36020576C>T	uc003olq.3	+	1	698	c.217C>T	c.(217-219)Cgg>Tgg	p.R73W	MAPK14_uc011dth.2_Missense_Mutation_p.R73W|MAPK14_uc003olo.3_Missense_Mutation_p.R73W|MAPK14_uc003olp.3_Missense_Mutation_p.R73W|MAPK14_uc003olr.3_Missense_Mutation_p.R73W|MAPK14_uc011dti.2_5'UTR	NM_139012	NP_620581	Q16539	MK14_HUMAN	Homo sapiens mitogen-activated protein kinase 14 (MAPK14), transcript variant 2, mRNA.	73	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|cellular component movement|cellular response to ionizing radiation|chemotaxis|innate immune response|mRNA metabolic process|muscle cell differentiation|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of muscle cell differentiation|positive regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|signal transduction in response to DNA damage|stress-activated MAPK cascade|stress-induced premature senescence|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|MAP kinase kinase activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1)	16						CAGAGAACTGCGGTTACTTAA	0.373000												
HIVEP2	3097	broad.mit.edu	37	6	143093770	143093770	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:143093770G>A	uc003qjd.3	-	4	2849	c.2106C>T	c.(2104-2106)agC>agT	p.S702S		NM_006734	NP_006725	P31629	ZEP2_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA.	702					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K701E(1)		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)		CATCCCCTACGCTCTTCTCTT	0.512000												
ZNF835	90485	broad.mit.edu	37	19	57175802	57175802	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:57175802G>A	uc010ygn.2	-	1	992	c.765C>T	c.(763-765)tgC>tgT	p.C255C		NM_001005850	NP_001005850			Homo sapiens zinc finger protein 835 (ZNF835), mRNA.											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						AGGCCTTGGCGCACGCGGAGC	0.682000												
TTLL5	23093	broad.mit.edu	37	14	76135826	76135826	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:76135826G>A	uc010ask.2	+	2	417	c.142G>A	c.(142-144)Gct>Act	p.A48T	TTLL5_uc001xrw.2_Missense_Mutation_p.A48T|TTLL5_uc001xrx.3_Missense_Mutation_p.A48T|TTLL5_uc001xrv.3_Missense_Mutation_p.A48T	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 5 (TTLL5), mRNA.	48					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		CCATGCCGACGCTATTCTTAC	0.453000												
SLC6A3	6531	broad.mit.edu	37	5	1409199	1409199	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:1409199G>A	uc003jck.3	-	10	1566	c.1440C>T	c.(1438-1440)gcC>gcT	p.A480A		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA.	480					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	TGGACGTGCCGGCTGCAAAAT	0.592000												
LRRN1	57633	broad.mit.edu	37	3	3888176	3888176	+	Silent	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:3888176C>A	uc003bpt.4	+	1	2612	c.1851C>A	c.(1849-1851)gcC>gcA	p.A617A	SUMF1_uc003bps.2_Intron|LRRN1_uc021wsh.1_Silent_p.A617A	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	Homo sapiens leucine rich repeat neuronal 1 (LRRN1), mRNA.	617						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		CCAAAAATGCCGCCTTCGCAG	0.473000												
THG1L	54974	broad.mit.edu	37	5	157159916	157159916	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:157159916C>T	uc003lxd.3	+	1	358	c.232C>T	c.(232-234)Cgt>Tgt	p.R78C	THG1L_uc011ddu.2_5'UTR	NM_017872	NP_060342	Q9NWX6	THG1_HUMAN	Homo sapiens tRNA-histidine guanylyltransferase 1-like (S. cerevisiae) (THG1L), mRNA.	78					protein homotetramerization|tRNA modification	mitochondrion	GTP binding|metal ion binding|tRNA guanylyltransferase activity			NS(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)	13	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CAATGACAGCCGTGCTCTCCA	0.468000												
SAMD4B	55095	broad.mit.edu	37	19	39871413	39871413	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:39871413C>T	uc002olb.3	+	12	2871	c.1836C>T	c.(1834-1836)ggC>ggT	p.G612G	SAMD4B_uc002ola.3_Silent_p.G612G	NM_018028	NP_060498	Q5PRF9	SMAG2_HUMAN	Homo sapiens sterile alpha motif domain containing 4B (SAMD4B), mRNA.	612							protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			GCCTTGGAGGCCAGGGCCGAC	0.677000												
B3GALT2	8707	broad.mit.edu	37	1	193149563	193149563	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:193149563C>T	uc021pgr.1	-	0	1130	c.1130G>A	c.(1129-1131)aGc>aAc	p.S377N	CDC73_uc001gtb.3_Intron|B3GALT2_uc001gtc.4_Missense_Mutation_p.S377N	NM_003783	NP_003774	O43825	B3GT2_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2 (B3GALT2), mRNA.	377					protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	16						AATTAGGTGGCTGTATTTACA	0.433000												
CCT6B	10693	broad.mit.edu	37	17	33266272	33266272	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:33266272C>A	uc002hig.3	-	9	1259	c.1143G>T	c.(1141-1143)aaG>aaT	p.K381N	CCT6B_uc010ctg.3_Missense_Mutation_p.K344N|CCT6B_uc010wcc.2_Missense_Mutation_p.K336N	NM_006584	NP_006575	Q92526	TCPW_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 6B (zeta 2) (CCT6B), transcript variant 1, mRNA.	381					chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				TGAGAGTATGCTTATTTGGTC	0.388000												
LMO2	4005	broad.mit.edu	37	11	33881013	33881013	+	Silent	SNP	G	G	A	rs150885335		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:33881013G>A	uc001mve.3	-	2	805	c.366C>T	c.(364-366)tgC>tgT	p.C122C	LMO2_uc001mvc.3_Silent_p.C115C|LMO2_uc001mvd.3_Silent_p.C115C|LMO2_uc010rel.2_Silent_p.C122C|LMO2_uc010rem.2_Silent_p.C191C	NM_001142316	NP_001135788	P25791	RBTN2_HUMAN	Homo sapiens LIM domain only 2 (rhombotin-like 1) (LMO2), transcript variant 3, mRNA.	122	LIM zinc-binding 2.				multicellular organismal development	nucleus	protein binding|zinc ion binding	p.K121K(1)|p.K121E(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)|urinary_tract(1)	14						GACAGGCGGCGCATTTGAAAC	0.488000			T	TRD@	T-ALL							
ARL11	115761	broad.mit.edu	37	13	50204926	50204926	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:50204926G>A	uc001vdf.2	+	1	678	c.343G>A	c.(343-345)Gtc>Atc	p.V115I	ARL11_uc021rjo.1_Missense_Mutation_p.V115I	NM_138450	NP_612459	Q969Q4	ARL11_HUMAN	Homo sapiens ADP-ribosylation factor-like 11 (ARL11), mRNA.	115					small GTPase mediated signal transduction	intracellular	GTP binding|protein binding			kidney(1)|large_intestine(4)|ovary(1)	6		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.119)|Kidney(9;0.169)	GBM - Glioblastoma multiforme(99;1.67e-09)		CATGGCTGGCGTCCCCTTCTT	0.567000												
MID1	4281	broad.mit.edu	37	X	10535114	10535114	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:10535114G>A	uc004cte.4	-	1	664	c.474C>T	c.(472-474)ggC>ggT	p.G158G	MID1_uc004ctd.4_5'Flank|MID1_uc004ctg.4_Silent_p.G158G|MID1_uc004cth.4_Silent_p.G158G|MID1_uc004ctk.4_Silent_p.G158G|MID1_uc004ctj.4_Silent_p.G158G|MID1_uc004cti.4_Silent_p.G158G|MID1_uc011mie.1_Non-coding_Transcript|MID1_uc004ctm.2_Silent_p.G158G|MID1_uc004ctn.2_Silent_p.G158G|MID1_uc004cto.2_Silent_p.G158G|MID1_uc010ndw.1_5'Flank|MID1_uc004cts.1_5'Flank|MID1_uc004ctt.3_Silent_p.G158G|MID1_uc004ctu.3_Silent_p.G158G|MID1_uc004ctv.3_Silent_p.G158G|MID1_uc004ctw.3_Silent_p.G158G|MID1_uc010ndy.2_Silent_p.G158G|MID1_uc010ndz.1_5'Flank|MID1_uc004cty.3_Silent_p.G158G|MID1_uc004ctz.1_5'Flank|MID1_uc004cua.1_Non-coding_Transcript|MID1_uc004cub.1_Silent_p.G158G|MID1_uc004cuc.1_Silent_p.G158G|MID1_uc004cud.1_Silent_p.G158G|MID1_uc004cue.1_Silent_p.G158G|MID1_uc004cuf.1_Silent_p.G158G|MID1_uc004cug.1_Silent_p.G158G	NM_001193277	NP_150632	O15344	TRI18_HUMAN	Homo sapiens midline 1 (Opitz/BBB syndrome) (MID1), transcript variant 2, mRNA.	158					microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						TCAGACGATGGCCTGTAAAGG	0.522000												
EEF1G	1937	broad.mit.edu	37	11	62338497	62338497	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:62338497G>A	uc001ntm.1	-	4	608	c.462C>T	c.(460-462)ggC>ggT	p.G154G	EEF1G_uc010rlw.1_Silent_p.G204G	NM_001404	NP_001395	P26641	EF1G_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 gamma (EEF1G), mRNA.	154	GST C-terminal.				response to virus	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TCACTCGTTCGCCCACCAGAA	0.488000												
ICK	22858	broad.mit.edu	37	6	52883237	52883237	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:52883237G>A	uc003pbh.2	-	7	1044	c.554C>T	c.(553-555)gCg>gTg	p.A185V	ICK_uc003pbi.2_Missense_Mutation_p.A185V|ICK_uc003pbj.3_Missense_Mutation_p.A185V	NM_016513	NP_057597	Q9UPZ9	ICK_HUMAN	Homo sapiens intestinal cell (MAK-like) kinase (ICK), transcript variant 2, mRNA.	185	Protein kinase.				intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding	p.A185A(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					GCAGCCCACCGCCCAGACGTC	0.512000												
TRPC3	7222	broad.mit.edu	37	4	122853627	122853627	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:122853627C>T	uc003ieg.2	-	1	860	c.786G>A	c.(784-786)ccG>ccA	p.P262P	TRPC3_uc010inr.2_Silent_p.P189P|TRPC3_uc003ief.2_Silent_p.P189P|TRPC3_uc011cgl.1_5'UTR	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 3 (TRPC3), transcript variant 1, mRNA.	177					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						AATAGTCGTGCGGCCGCTCGA	0.602000												
FOXL1	2300	broad.mit.edu	37	16	86612374	86612374	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:86612374G>A	uc002fjr.3	+	0	260	c.45G>A	c.(43-45)tcG>tcA	p.S15S		NM_005250	NP_005241	Q12952	FOXL1_HUMAN	Homo sapiens forkhead box L1 (FOXL1), mRNA.	15					brain development|camera-type eye development|cartilage development|embryo development|forelimb morphogenesis|heart development|organ morphogenesis|pattern specification process|proteoglycan biosynthetic process|regulation of Wnt receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|visceral mesoderm-endoderm interaction involved in midgut 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	p.S15L(1)		central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(2)|prostate(3)|skin(1)|urinary_tract(1)	15						TGGCCGCCTCGCCCATGCTGT	0.721000												
PLA2G4F	255189	broad.mit.edu	37	15	42436328	42436328	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:42436328C>T	uc001zoz.3	-	17	2082	c.1990G>A	c.(1990-1992)Gcc>Acc	p.A664T	PLA2G4F_uc010bcq.3_Intron|PLA2G4F_uc001zoy.3_Missense_Mutation_p.A296T|PLA2G4F_uc001zpa.3_Missense_Mutation_p.A415T|PLA2G4F_uc010bcr.3_Missense_Mutation_p.A415T|PLA2G4F_uc010bcs.3_Missense_Mutation_p.A451T	NM_213600	NP_998765	Q68DD2	PA24F_HUMAN	Homo sapiens phospholipase A2, group IVF (PLA2G4F), transcript variant 1, mRNA.	664	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		TTGGGGAAGGCGTCCGGGTGT	0.572000												
AKT2	208	broad.mit.edu	37	19	40747910	40747910	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:40747910G>A	uc002onf.3	-	5	807	c.508C>T	c.(508-510)Cgg>Tgg	p.R170W	AKT2_uc010egs.3_Missense_Mutation_p.R170W|AKT2_uc010xvj.2_Missense_Mutation_p.R108W|AKT2_uc010egt.3_Missense_Mutation_p.R108W|AKT2_uc010egu.2_Missense_Mutation_p.R108W|AKT2_uc010xvk.1_Missense_Mutation_p.R170W|AKT2_uc002one.3_Missense_Mutation_p.R66W	NM_001626	NP_001229957	P31751	AKT2_HUMAN	Homo sapiens v-akt murine thymoma viral oncogene homolog 2 (AKT2), transcript variant 1, mRNA.	170	Protein kinase.				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.R170R(1)		breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			GCCTTCTCCCGCACCAGGATG	0.587000			A		"""ovarian, pancreatic """							
ALPPL2	251	broad.mit.edu	37	2	233272672	233272672	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:233272672G>A	uc002vss.4	+	4	646	c.593G>A	c.(592-594)cGc>cAc	p.R198H		NM_031313	NP_112603	P10696	PPBN_HUMAN	Homo sapiens alkaline phosphatase, placental-like 2 (ALPPL2), mRNA.	198					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	GCCTCGGCCCGCCAGGAGGGG	0.672000												
ATP2B1	490	broad.mit.edu	37	12	89992941	89992941	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:89992941G>A	uc001tbh.3	-	18	3485	c.3304C>T	c.(3304-3306)Cgt>Tgt	p.R1102C	ATP2B1_uc001tbg.3_Missense_Mutation_p.R1102C|ATP2B1_uc009zsr.3_Non-coding_Transcript|ATP2B1_uc001tbf.3_Missense_Mutation_p.R736C	NM_001682	NP_001673	P20020	AT2B1_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 1 (ATP2B1), transcript variant 2, mRNA.	1102	Calmodulin-binding subdomain A.				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						ATTTGGCCACGCCGCAACTCC	0.483000												
FGD2	221472	broad.mit.edu	37	6	36993700	36993700	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:36993700C>T	uc010jwp.1	+	13	1762	c.1591C>T	c.(1591-1593)Cgg>Tgg	p.R531W	FGD2_uc003ong.2_Missense_Mutation_p.R253W|FGD2_uc011dtv.1_Missense_Mutation_p.R159W|FGD2_uc003onj.1_Missense_Mutation_p.R108W	NM_173558	NP_775829	Q7Z6J4	FGD2_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 2 (FGD2), mRNA.	531					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	Golgi apparatus|cytoskeleton|cytosol|early endosome membrane|lamellipodium|nucleus|ruffle membrane	Rho guanyl-nucleotide exchange factor activity|metal ion binding|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						GGACAAGAGGCGGGGCATCCT	0.607000												
LRRC33	375387	broad.mit.edu	37	3	196388524	196388524	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:196388524C>T	uc003fwv.3	+	2	2114	c.2010C>T	c.(2008-2010)atC>atT	p.I670I		NM_198565	NP_940967	Q86YC3	LRC33_HUMAN	Homo sapiens leucine rich repeat containing 33 (LRRC33), mRNA.	670						integral to membrane				NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(17)|ovary(3)|prostate(3)	40	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		GCACTGTCATCGTCCTCACTT	0.597000												
C3orf23	285343	broad.mit.edu	37	3	44441970	44441970	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:44441970A>G	uc003cnd.4	+	8	1436	c.1009A>G	c.(1009-1011)Aca>Gca	p.T337A	C3orf23_uc010him.3_Missense_Mutation_p.T337A|C3orf23_uc003cne.4_Missense_Mutation_p.T193A	NM_173826	NP_776187	Q8N3R3	CC023_HUMAN	Homo sapiens chromosome 3 open reading frame 23 (C3orf23), transcript variant 1, mRNA.	337						mitochondrion				breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		GCCAGTATTGACACTTGAAGA	0.333000												
POLR3G	10622	broad.mit.edu	37	5	89781409	89781409	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:89781409C>T	uc003kjq.3	+	1	225	c.25C>T	c.(25-27)Cgt>Tgt	p.R9C	POLR3G_uc011cuc.2_Missense_Mutation_p.R9C	NM_006467	NP_006458	O15318	RPC7_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide G (32kD) (POLR3G), mRNA.	9					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA-directed RNA polymerase activity			cervix(1)|endometrium(1)|kidney(2)|lung(4)|prostate(1)	9		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;2.74e-31)|Epithelial(54;8.2e-26)|all cancers(79;3.86e-22)		AGGAAGAGGACGTGCTGCTTA	0.393000												
USP54	159195	broad.mit.edu	37	10	75290490	75290490	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:75290490C>T	uc001juo.3	-	10	1436	c.1419G>A	c.(1417-1419)gaG>gaA	p.E473E	USP54_uc001juk.3_5'UTR|USP54_uc001jul.3_5'UTR|USP54_uc001jum.3_Non-coding_Transcript|USP54_uc001jun.3_Non-coding_Transcript|USP54_uc001jup.3_Silent_p.E473E|U6_uc021ptn.1_5'Flank|USP54_uc010qkl.1_Silent_p.E473E	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN	Homo sapiens ubiquitin specific peptidase 54 (USP54), mRNA.	473					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					AGGCCTGGGGCTCATCGCCTT	0.498000												
TAF1	6872	broad.mit.edu	37	X	70603863	70603863	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:70603863C>T	uc004dzu.4	+	12	2047	c.1996C>T	c.(1996-1998)Cgc>Tgc	p.R666C	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.4_Missense_Mutation_p.R687C	NM_138923	NP_620278	P21675	TAF1_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa (TAF1), transcript variant 2, mRNA.	666					G1 phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|TBP-class protein binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GTTTTTTATGCGCACACCTCA	0.448000												
HTR1E	3354	broad.mit.edu	37	6	87725357	87725357	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:87725357A>G	uc003pli.3	+	1	1008	c.305A>G	c.(304-306)gAc>gGc	p.D102G	HTR1E_uc021zcg.1_Missense_Mutation_p.D102G	NM_000865	NP_000856	P28566	5HT1E_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1E (HTR1E), mRNA.	102					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	CTGAGTGTGGACATGACCTGC	0.557000												
EPPK1	83481	broad.mit.edu	37	8	144945091	144945091	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:144945091C>T	uc003zaa.1	-	0	2344	c.2331G>A	c.(2329-2331)acG>acA	p.T777T		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	777						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCTGCAGGTACGTGAGGTTCT	0.622000												
SLC25A30	253512	broad.mit.edu	37	13	45983111	45983111	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:45983111C>T	uc001vag.3	-	2	300	c.163G>A	c.(163-165)Gca>Aca	p.A55T	SLC25A30_uc010tfs.2_Intron|SLC25A30_uc010tft.2_Missense_Mutation_p.A4T|SLC25A30_uc001vah.3_Intron	NM_001010875	NP_001010875	Q5SVS4	KMCP1_HUMAN	Homo sapiens solute carrier family 25, member 30 (SLC25A30), nuclear gene encoding mitochondrial protein, mRNA.	55					mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.95e-05)		CTCACTAATGCGTGCAACATT	0.448000												
CACNB2	783	broad.mit.edu	37	10	18816561	18816561	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:18816561G>A	uc001ipr.2	+	9	1049	c.989G>A	c.(988-990)cGc>cAc	p.R330H	CACNB2_uc001ipt.2_Missense_Mutation_p.R292H|CACNB2_uc009xjz.1_Intron|CACNB2_uc001ips.2_Missense_Mutation_p.R306H|CACNB2_uc010qcl.2_Non-coding_Transcript|CACNB2_uc001ipu.3_Missense_Mutation_p.R302H|CACNB2_uc001ipv.3_Missense_Mutation_p.R278H|CACNB2_uc009xka.2_Missense_Mutation_p.R264H|CACNB2_uc001ipw.2_Missense_Mutation_p.R237H|CACNB2_uc001ipx.2_Missense_Mutation_p.R275H|CACNB2_uc001ipz.2_Missense_Mutation_p.R252H|CACNB2_uc001ipy.2_Missense_Mutation_p.R276H|CACNB2_uc010qco.1_Missense_Mutation_p.R244H|CACNB2_uc001iqa.2_Missense_Mutation_p.R282H|NSUN6_uc001iqb.3_Intron	NM_201596	NP_963890	Q08289	CACB2_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 2 subunit (CACNB2), transcript variant 2, mRNA.	330					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)	CTTGCCAAACGCTCGGTATTA	0.423000												
KIAA1586	57691	broad.mit.edu	37	6	56918150	56918150	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:56918150C>T	uc003pdj.3	+	3	1023	c.853C>T	c.(853-855)Cgt>Tgt	p.R285C	KIAA1586_uc011dxm.2_Missense_Mutation_p.R258C	NM_020931	NP_065982	Q9HCI6	K1586_HUMAN	Homo sapiens KIAA1586 (KIAA1586), mRNA.	285							nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TTTAAATACACGTTACAGTGC	0.299000												
KIAA1549	57670	broad.mit.edu	37	7	138604036	138604036	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:138604036C>T	uc011kql.2	-	1	385	c.336G>A	c.(334-336)ccG>ccA	p.P112P	KIAA1549_uc011kqj.2_Silent_p.P112P	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	112						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TGGCAGACGGCGGGGCTGTGA	0.517000			O	BRAF	pilocytic astrocytoma							
NR2F2	7026	broad.mit.edu	37	15	96875556	96875556	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:96875556G>A	uc010uri.2	+	0	1446	c.222G>A	c.(220-222)caG>caA	p.Q74Q	NR2F2_uc002btp.3_Intron|NR2F2_uc010urj.2_5'Flank|MIR1469_uc021swi.1_5'Flank|NR2F2_uc010urk.2_5'Flank	NM_021005	NP_001138629	P24468	COT2_HUMAN	Homo sapiens nuclear receptor subfamily 2, group F, member 2 (NR2F2), transcript variant 1, mRNA.	74	Poly-Gln.				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			AGCAGCAGCAGCAACACATCG	0.697000												
CIC	23152	broad.mit.edu	37	19	42797777	42797777	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:42797777C>T	uc002otf.1	+	15	3869	c.3829C>T	c.(3829-3831)Cgc>Tgc	p.R1277C		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	1277	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TTCAGACTGGCGCGTCCCTGG	0.652000			"""Mis, F, S"""		oligodendroglioma							
ERBB2IP	55914	broad.mit.edu	37	5	65349316	65349316	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:65349316G>A	uc003juk.2	+	20	2480	c.2170G>A	c.(2170-2172)Gat>Aat	p.D724N	ERBB2IP_uc011cqx.2_Missense_Mutation_p.D724N|ERBB2IP_uc003jui.2_Missense_Mutation_p.D724N|ERBB2IP_uc003jul.2_Missense_Mutation_p.D720N|ERBB2IP_uc011cqy.2_Missense_Mutation_p.D724N|ERBB2IP_uc003juj.2_Missense_Mutation_p.D724N|ERBB2IP_uc011cqz.2_Intron|ERBB2IP_uc010iwx.2_Missense_Mutation_p.D720N	NM_001253697	NP_001240626	Q96RT1	LAP2_HUMAN	Homo sapiens erbb2 interacting protein (ERBB2IP), transcript variant 1, mRNA.	724					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		CAAAGCTCATGATAAAAAAGA	0.303000												
HSD3B2	3284	broad.mit.edu	37	1	119985638	119985638	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:119985638C>G	uc001ehu.3	+	3	617	c.445C>G	c.(445-447)Cag>Gag	p.Q149E				P26439	3BHS2_HUMAN	Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 (HSD3B2), transcript variant 1, mRNA.	0					androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	CACTCACAGACAGTCTATCAT	0.498000												
MAGI1	9223	broad.mit.edu	37	3	65415516	65415516	+	Missense_Mutation	SNP	C	C	T	rs151058544	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:65415516C>T	uc003dmn.3	-	11	2372	c.1846G>A	c.(1846-1848)Gtg>Atg	p.V616M	MAGI1_uc003dmm.3_Missense_Mutation_p.V616M|MAGI1_uc003dmo.3_Missense_Mutation_p.V616M|MAGI1_uc003dmp.3_Missense_Mutation_p.V616M|MAGI1_uc010hny.2_Missense_Mutation_p.V501M	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA.	616					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TTTGAAGCCACGTCCGCTGGG	0.468000												
CDK5RAP2	55755	broad.mit.edu	37	9	123308012	123308012	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:123308012C>A	uc004bkf.3	-	4	544	c.363G>T	c.(361-363)gaG>gaT	p.E121D	CDK5RAP2_uc004bkg.3_Missense_Mutation_p.E121D|CDK5RAP2_uc011lxw.2_5'UTR|CDK5RAP2_uc011lxx.2_Non-coding_Transcript|CDK5RAP2_uc011lxy.2_Non-coding_Transcript|CDK5RAP2_uc011lxz.2_5'UTR|CDK5RAP2_uc011lya.2_5'UTR|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.E121D	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 2 (CDK5RAP2), transcript variant 1, mRNA.	121					G2/M transition of mitotic cell cycle|brain development|centrosome organization|chromosome segregation|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	Golgi apparatus|cytosol|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						TGAGCAGCTGCTCTCTCTCCT	0.433000												
ARHGAP22	58504	broad.mit.edu	37	10	49654532	49654532	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:49654532C>G	uc001jgu.3	-	9	2344	c.2047G>C	c.(2047-2049)Gag>Cag	p.E683Q	ARHGAP22_uc001jgs.3_Missense_Mutation_p.E577Q|ARHGAP22_uc001jgt.3_Missense_Mutation_p.E667Q|ARHGAP22_uc010qgl.2_Missense_Mutation_p.E624Q|ARHGAP22_uc010qgm.2_Missense_Mutation_p.E673Q|ARHGAP22_uc001jgv.3_Missense_Mutation_p.E365Q|ARHGAP22_uc001jgr.3_Missense_Mutation_p.E384Q	NM_021226	NP_067049	Q7Z5H3	RHG22_HUMAN	Homo sapiens Rho GTPase activating protein 22 (ARHGAP22), transcript variant 3, mRNA.	667					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity	p.E667Q(1)		endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TTCCTCCTCTCCGCATCCTCC	0.502000												
UTP20	27340	broad.mit.edu	37	12	101720944	101720944	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:101720944C>T	uc001tia.1	+	25	3283	c.3127C>T	c.(3127-3129)Cgg>Tgg	p.R1043W		NM_014503	NP_055318	O75691	UTP20_HUMAN	Homo sapiens UTP20, small subunit (SSU) processome component, homolog (yeast) (UTP20), mRNA.	1043					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						CATTGTCCTGCGGTTCCTGGC	0.478000												
EFCAB7	84455	broad.mit.edu	37	1	63991248	63991248	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:63991248C>T	uc001dbf.3	+	1	299	c.5C>T	c.(4-6)gCg>gTg	p.A2V	ITGB3BP_uc001dbc.2_5'Flank|ITGB3BP_uc001dbb.2_5'Flank|ITGB3BP_uc001dba.2_5'Flank|ITGB3BP_uc009wak.1_5'Flank	NM_032437	NP_115813	A8K855	EFCB7_HUMAN	Homo sapiens EF-hand calcium binding domain 7 (EFCAB7), mRNA.	2							calcium ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						AATAGAATGGCGATCAGTCCA	0.368000												
STXBP2	6813	broad.mit.edu	37	19	7703933	7703933	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:7703933G>A	uc010xjr.2	+	2	161	c.116G>A	c.(115-117)cGc>cAc	p.R39H	STXBP2_uc002mha.4_Missense_Mutation_p.R39H|STXBP2_uc002mhb.4_Missense_Mutation_p.R39H|STXBP2_uc010dvj.3_Non-coding_Transcript|STXBP2_uc010dvl.2_5'Flank	NM_006949	NP_008880	Q15833	STXB2_HUMAN	Homo sapiens syntaxin binding protein 2 (STXBP2), transcript variant 1, mRNA.	39					leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						CCAAGCATGCGCATCTTGTCT	0.577000												
CD163L1	283316	broad.mit.edu	37	12	7528533	7528533	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:7528533G>A	uc010sge.2	-	9	2505	c.2479C>T	c.(2479-2481)Cgc>Tgc	p.R827C	CD163L1_uc001qsy.3_Missense_Mutation_p.R817C	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	817	SRCR 8.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CAGACAGAGCGCCATGTGTCT	0.463000												
GPR141	353345	broad.mit.edu	37	7	37780303	37780303	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:37780303T>C	uc003tfm.1	+	0	308	c.308T>C	c.(307-309)tTc>tCc	p.F103S	BC043356_uc003tfl.3_Intron	NM_181791	NP_861456	Q7Z602	GP141_HUMAN	Homo sapiens G protein-coupled receptor 141 (GPR141), mRNA.	103						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.T102T(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TACCTCACGTTCCTATTCTAT	0.468000												
KCNA5	3741	broad.mit.edu	37	12	5154014	5154014	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:5154014G>A	uc001qni.3	+	0	930	c.701G>A	c.(700-702)cGc>cAc	p.R234H		NM_002234	NP_002225	P22460	KCNA5_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 5 (KCNA5), mRNA.	234						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						GAGTTCCAGCGCCAGGTGTGG	0.602000												
NEFM	4741	broad.mit.edu	37	8	24771638	24771638	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:24771638G>A	uc003xed.4	+	0	365	c.332G>A	c.(331-333)cGc>cAc	p.R111H	NEFM_uc011lac.1_Missense_Mutation_p.R111H|NEFM_uc010lue.3_5'Flank|AK308605_uc010luc.2_3'UTR	NM_005382	NP_005373	P07197	NFM_HUMAN	Homo sapiens neurofilament, medium polypeptide (NEFM), transcript variant 1, mRNA.	111	Coil 1A.|Rod.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CTGAACGACCGCTTTGCCGGC	0.642000												
IRAK1	3654	broad.mit.edu	37	X	153282484	153282484	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:153282484C>T	uc004fjs.1	-	7	1023	c.944G>A	c.(943-945)cGa>cAa	p.R315Q	IRAK1_uc004fjr.1_Missense_Mutation_p.R315Q|IRAK1_uc004fjt.1_Missense_Mutation_p.R315Q|IRAK1_uc004fju.2_Missense_Mutation_p.R341Q	NM_001569	NP_001560	P51617	IRAK1_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 1 (IRAK1), transcript variant 1, mRNA.	315	Protein kinase.				JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|lipopolysaccharide-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transmembrane receptor protein serine/threonine kinase signaling pathway	cytosol|endosome membrane|interleukin-1 receptor complex	ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GATGTCCAGTCGCTGAGGCCA	0.602000												
CCDC39	339829	broad.mit.edu	37	3	180334111	180334111	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:180334111C>T	uc010hxe.3	-	18	2742	c.2627G>A	c.(2626-2628)cGt>cAt	p.R876H	CCDC39_uc003fkn.3_Non-coding_Transcript|TTC14_uc003fkm.2_Intron	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	Homo sapiens coiled-coil domain containing 39 (CCDC39), mRNA.	876	Ser-rich.				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			AGAGCTCTGACGACTGCCTTT	0.383000												
NSDHL	50814	broad.mit.edu	37	X	152034374	152034374	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:152034374C>T	uc004fgt.1	+	6	816	c.555C>T	c.(553-555)ggC>ggT	p.G185G	NSDHL_uc004fgs.1_Silent_p.G185G	NM_001129765	NP_057006	Q15738	NSDHL_HUMAN	Homo sapiens NAD(P) dependent steroid dehydrogenase-like (NSDHL), transcript variant 2, mRNA.	185					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|binding|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	CAGTTCTGGGCGCCAACGATC	0.582000												
PSPC1	55269	broad.mit.edu	37	13	20279899	20279899	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:20279899G>A	uc021rgx.1	-	8	1426	c.1289C>T	c.(1288-1290)gCa>gTa	p.A430V		NM_001042414	NP_001035879	Q8WXF1	PSPC1_HUMAN	Homo sapiens paraspeckle component 1 (PSPC1), transcript variant 1, mRNA.	430	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	RNA binding|nucleotide binding|protein binding			breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		AGGTATAGTTGCTCTGTTGTT	0.488000												
CUTA	51596	broad.mit.edu	37	6	33385291	33385291	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:33385291C>T	uc003oej.1	-	1	512	c.224G>A	c.(223-225)tGc>tAc	p.C75Y	CUTA_uc003oen.1_Missense_Mutation_p.C94Y|CUTA_uc003oem.1_Missense_Mutation_p.C52Y|CUTA_uc003oek.1_Missense_Mutation_p.C52Y|CUTA_uc003oel.1_Missense_Mutation_p.C52Y|SYNGAP1_uc003oeo.1_5'Flank|SYNGAP1_uc011dri.2_5'Flank|SYNGAP1_uc010juy.3_5'Flank	NM_001014840	NP_057005	O60888	CUTA_HUMAN	Homo sapiens cutA divalent cation tolerance homolog (E. coli) (CUTA), transcript variant 5, mRNA.	75					protein localization|response to metal ion	membrane	enzyme binding		SLC22A1/CUTA(2)	kidney(1)|lung(3)|urinary_tract(1)	5						CTCGTTGGGGCAAGTAACAAA	0.622000												
PCDHAC2	56134	broad.mit.edu	37	5	140166015	140166015	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:140166015G>A	uc003lhb.2	+	0	140	c.140G>A	c.(139-141)cGc>cAc	p.R47H	PCDHAC2_uc003lha.2_Missense_Mutation_p.R47H|PCDHAC2_uc003lgz.3_Missense_Mutation_p.R47H	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	60	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCGTTGGCCGCGTTGCTCAG	0.632000												
ZWILCH	55055	broad.mit.edu	37	15	66813467	66813467	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:66813467C>T	uc002aqb.3	+	6	917	c.671C>T	c.(670-672)gCg>gTg	p.A224V	RPL4_uc002apx.3_Intron|ZWILCH_uc010bhu.1_Missense_Mutation_p.A110V|ZWILCH_uc002aqa.3_Missense_Mutation_p.A110V|ZWILCH_uc010bhv.3_Missense_Mutation_p.A110V	NM_017975	NP_060445	Q9H900	ZWILC_HUMAN	Homo sapiens Zwilch, kinetochore associated, homolog (Drosophila) (ZWILCH), transcript variant 1, mRNA.	224					cell division|mitotic cell cycle checkpoint|mitotic prometaphase	condensed chromosome kinetochore|cytosol	protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						TCACAAACTGCGATCGCTTTG	0.458000												
CMTM2	146225	broad.mit.edu	37	16	66613521	66613521	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:66613521A>C	uc002ept.3	+	0	171	c.11A>C	c.(10-12)aAg>aCg	p.K4T	CMTM2_uc010cdu.3_Missense_Mutation_p.K4T	NM_144673	NP_653274	Q8TAZ6	CKLF2_HUMAN	Homo sapiens CKLF-like MARVEL transmembrane domain containing 2 (CMTM2), transcript variant 1, mRNA.	4					chemotaxis	extracellular space|integral to membrane	cytokine activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212)		ATGGCACCTAAGGCGGCAAAG	0.597000												
C20orf94	128710	broad.mit.edu	37	20	10603861	10603861	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:10603861C>T	uc010zre.2	+	7	1241	c.1061C>T	c.(1060-1062)aCg>aTg	p.T354M		NM_001009608	NP_001009608	Q5VYV7	CT094_HUMAN	Homo sapiens chromosome 20 open reading frame 94 (C20orf94), mRNA.	354							protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	14						GCAAAAACCACGTCTAAGGAA	0.428000												
POMT2	29954	broad.mit.edu	37	14	77745184	77745184	+	Silent	SNP	G	G	A	rs150755807		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:77745184G>A	uc001xti.2	-	18	2121	c.1920C>T	c.(1918-1920)ggC>ggT	p.G640G	POMT2_uc001xth.1_Silent_p.G338G	NM_013382	NP_037514	Q9UKY4	POMT2_HUMAN	Homo sapiens protein-O-mannosyltransferase 2 (POMT2), mRNA.	640					protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		GGACCTGGCCGCCTCCTCGAA	0.602000												
RARS	5917	broad.mit.edu	37	5	167944920	167944920	+	Missense_Mutation	SNP	C	C	T	rs147793623		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:167944920C>T	uc003lzx.3	+	13	1767	c.1726C>T	c.(1726-1728)Cgg>Tgg	p.R576W	RARS_uc011deo.2_Missense_Mutation_p.R370W	NM_002887	NP_002878	P54136	SYRC_HUMAN	Homo sapiens arginyl-tRNA synthetase (RARS), mRNA.	576					arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|arginine-tRNA ligase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		GAAACTAGGCCGGTGCATTTT	0.408000												
ZMYND8	23613	broad.mit.edu	37	20	45910870	45910870	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:45910870G>A	uc010zxy.1	-	9	1077	c.995C>T	c.(994-996)gCc>gTc	p.A332V	ZMYND8_uc010ghr.1_Missense_Mutation_p.A280V|ZMYND8_uc002xst.1_Missense_Mutation_p.A280V|ZMYND8_uc002xsu.1_Missense_Mutation_p.A305V|ZMYND8_uc002xsv.1_Missense_Mutation_p.A280V|ZMYND8_uc002xsw.1_Missense_Mutation_p.A57V|ZMYND8_uc002xsx.1_Missense_Mutation_p.A57V|ZMYND8_uc002xsy.1_Missense_Mutation_p.A280V|ZMYND8_uc002xsz.1_Missense_Mutation_p.A242V|ZMYND8_uc002xta.1_Missense_Mutation_p.A305V|ZMYND8_uc002xtb.1_Missense_Mutation_p.A325V|ZMYND8_uc002xss.2_Missense_Mutation_p.A305V|ZMYND8_uc010zxz.1_Missense_Mutation_p.A300V|ZMYND8_uc002xtc.1_Missense_Mutation_p.A325V|ZMYND8_uc002xtd.1_Missense_Mutation_p.A300V|ZMYND8_uc002xte.1_Missense_Mutation_p.A305V|ZMYND8_uc010zya.1_Missense_Mutation_p.A305V|ZMYND8_uc002xtf.1_Missense_Mutation_p.A325V|ZMYND8_uc002xtg.3_Missense_Mutation_p.A299V|ZMYND8_uc010ghs.2_Missense_Mutation_p.A299V	NM_183047	NP_898868	Q9ULU4	PKCB1_HUMAN	Homo sapiens zinc finger, MYND-type containing 8 (ZMYND8), transcript variant 1, mRNA.	305							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			AAAGAATCGGGCATCGACCTG	0.448000												
LRAT	9227	broad.mit.edu	37	4	155665742	155665742	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:155665742G>A	uc003iom.1	+	0	591	c.264G>A	c.(262-264)acG>acA	p.T88T	DQ266889_uc003iol.3_Intron|LRAT_uc003ion.1_Silent_p.T88T	NM_004744	NP_004735	O95237	LRAT_HUMAN	Homo sapiens lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase) (LRAT), mRNA.	88					response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum	phosphatidylcholine-retinol O-acyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)	16	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)	TGGGGCGCACGCAGAAGGTGG	0.582000												
IGLL1	3543	broad.mit.edu	37	22	23915549	23915549	+	Silent	SNP	C	C	T	rs146592375		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:23915549C>T	uc002zxd.3	-	2	664	c.546G>A	c.(544-546)acG>acA	p.T182T	IGLL1_uc002zxe.3_3'UTR	NM_020070	NP_064455	P15814	IGLL1_HUMAN	Homo sapiens immunoglobulin lambda-like polypeptide 1 (IGLL1), transcript variant 1, mRNA.	182	C region (By similarity to lambda light- chain).|Ig-like C1-type.				immune response	extracellular region|membrane				kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1)	12						ACTGCTCGGGCGTCAGGCTCA	0.612000												
ANTXR2	118429	broad.mit.edu	37	4	80906003	80906003	+	Silent	SNP	A	A	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:80906003A>T	uc003hlz.4	-	12	1819	c.1056T>A	c.(1054-1056)ccT>ccA	p.P352P	ANTXR2_uc003hly.4_Silent_p.P352P|ANTXR2_uc003hlx.1_Non-coding_Transcript|ANTXR2_uc010ijn.3_Silent_p.P249P	NM_001145794	NP_001139266	P58335	ANTR2_HUMAN	Homo sapiens anthrax toxin receptor 2 (ANTXR2), transcript variant 2, mRNA.	352	Poly-Pro.					endoplasmic reticulum membrane|extracellular region|integral to membrane|plasma membrane	metal ion binding|protein binding|receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	13						GTGGTGGTGGAGGATCCTTAA	0.343000									Juvenile Hyaline Fibromatosis			
FAT4	79633	broad.mit.edu	37	4	126242112	126242112	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:126242112A>G	uc003ifj.4	+	0	4546	c.4546A>G	c.(4546-4548)Acc>Gcc	p.T1516A		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	1516	Cadherin 14.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GAAGAACGTGACCATTTTGGT	0.418000												
ASAP2	8853	broad.mit.edu	37	2	9437489	9437489	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:9437489T>C	uc002qzh.2	+	2	600	c.260T>C	c.(259-261)gTa>gCa	p.V87A	ASAP2_uc002qzi.2_Missense_Mutation_p.V87A	NM_003887	NP_003878	O43150	ASAP2_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 (ASAP2), transcript variant 1, mRNA.	87					regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						GGCAACTGTGTATGCAGAGAT	0.488000												
CCT6A	908	broad.mit.edu	37	7	56122107	56122107	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:56122107G>A	uc003trl.1	+	2	411	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	PSPH_uc003trh.3_5'Flank|PSPH_uc003tri.3_5'Flank|PSPH_uc003trj.3_Intron|PSPH_uc003trk.1_5'Flank|CCT6A_uc003trm.1_Intron|CCT6A_uc011kcu.1_Missense_Mutation_p.A52T|SNORA22_uc022adt.1_5'Flank	NM_001762	NP_001753	P40227	TCPZ_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 6A (zeta 1) (CCT6A), transcript variant 1, mRNA.	83					'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GGTAGCAACAGCCCAGGATGA	0.383000												
MUL1	79594	broad.mit.edu	37	1	20827511	20827511	+	Missense_Mutation	SNP	G	G	A	rs117689813	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:20827511G>A	uc001bdi.4	-	3	888	c.731C>T	c.(730-732)gCg>gTg	p.A244V		NM_024544	NP_078820	Q969V5	MUL1_HUMAN	Homo sapiens mitochondrial E3 ubiquitin protein ligase 1 (MUL1), nuclear gene encoding mitochondrial protein, mRNA.	244					activation of JUN kinase activity|activation of caspase activity|induction of apoptosis|mitochondrial fission|mitochondrion localization|negative regulation of cell growth|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to mitochondrial outer membrane|nucleus|peroxisome	identical protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(5)	11		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		AAAAACCAGCGCCAGCACCTT	0.592000												
RASL10B	91608	broad.mit.edu	37	17	34068171	34068171	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:34068171C>T	uc002hju.3	+	3	825	c.459C>T	c.(457-459)tgC>tgT	p.C153C		NM_033315	NP_201572	Q96S79	RSLAB_HUMAN	Homo sapiens RAS-like, family 10, member B (RASL10B), mRNA.	153	Small GTPase-like.				small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			breast(2)|endometrium(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCTGGAAGTGCGGCTACGTGG	0.632000												
EGFLAM	133584	broad.mit.edu	37	5	38418215	38418215	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:38418215C>T	uc003jlc.2	+	11	1888	c.1542C>T	c.(1540-1542)ggC>ggT	p.G514G	EGFLAM_uc003jlb.2_Silent_p.G514G|EGFLAM_uc003jle.2_Silent_p.G280G|EGFLAM_uc003jlf.2_Intron	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	514	Laminin G-like 1.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					ATCTTGGTGGCGCTCCCAGCG	0.468000												
ANKLE2	23141	broad.mit.edu	37	12	133303972	133303972	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:133303972G>A	uc001ukx.2	-	12	2740	c.2673C>T	c.(2671-2673)ggC>ggT	p.G891G	ANKLE2_uc009zyw.1_Silent_p.G246G	NM_015114	NP_055929	Q86XL3	ANKL2_HUMAN	Homo sapiens ankyrin repeat and LEM domain containing 2 (ANKLE2), mRNA.	891						cytoplasm|integral to membrane|nuclear envelope				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		AGCTGTGAGGGCCACTGAGAT	0.627000												
REPIN1	29803	broad.mit.edu	37	7	150069158	150069158	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:150069158G>T	uc010lpr.1	+	2	1192	c.999G>T	c.(997-999)aaG>aaT	p.K333N	REPIN1_uc003whd.2_Missense_Mutation_p.K265N|REPIN1_uc010lpq.1_Missense_Mutation_p.K276N|REPIN1_uc003whc.2_Missense_Mutation_p.K276N|REPIN1_uc003whe.2_Missense_Mutation_p.K276N	NM_001099695	NP_055189	Q9BWE0	REPI1_HUMAN	Homo sapiens replication initiator 1 (REPIN1), transcript variant 4, mRNA.	276	Pro-rich.				DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			TTACCAATAAGCCCTATCTGA	0.657000												
FLRT2	23768	broad.mit.edu	37	14	86089506	86089506	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:86089506G>A	uc021rxf.1	+	0	1648	c.1648G>A	c.(1648-1650)Gcg>Acg	p.A550T	FLRT2_uc001xvr.3_Missense_Mutation_p.A550T|FLRT2_uc010atd.3_Missense_Mutation_p.A550T	NM_013231	NP_037363	O43155	FLRT2_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 2 (FLRT2), mRNA.	550					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	p.A550T(2)|p.A550S(2)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		GATCGGGGGCGCGGTGATATT	0.587000												
PXDNL	137902	broad.mit.edu	37	8	52359707	52359707	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:52359707A>G	uc003xqu.4	-	11	1483	c.1382T>C	c.(1381-1383)gTg>gCg	p.V461A		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	461	Ig-like C2-type 3.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CTGGCCTTCCACAGGGAGCTG	0.517000												
TSPAN4	7106	broad.mit.edu	37	11	865745	865745	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:865745G>A	uc001lsd.1	+	6	693	c.484G>A	c.(484-486)Gcc>Acc	p.A162T	TSPAN4_uc001lse.1_Missense_Mutation_p.A98T|TSPAN4_uc001lsf.1_Missense_Mutation_p.A162T|TSPAN4_uc001lsg.1_Missense_Mutation_p.A162T|TSPAN4_uc001lsh.1_Missense_Mutation_p.A162T|TSPAN4_uc001lsi.1_Missense_Mutation_p.A162T|TSPAN4_uc001lsj.1_Missense_Mutation_p.A162T	NM_003271	NP_001020410	O14817	TSN4_HUMAN	Homo sapiens tetraspanin 4 (TSPAN4), transcript variant 5, mRNA.	162					protein complex assembly	integral to plasma membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGTGTACAACGCCACGCGGGT	0.662000												
BCL6	604	broad.mit.edu	37	3	187451444	187451444	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:187451444C>T	uc003frp.3	-	2	495	c.38G>A	c.(37-39)cGc>cAc	p.R13H	BCL6_uc011bsf.1_Missense_Mutation_p.R13H|BCL6_uc010hza.2_5'UTR|BCL6_uc003frq.2_Missense_Mutation_p.R13H	NM_001130845	NP_001697	P41182	BCL6_HUMAN	Homo sapiens B-cell CLL/lymphoma 6 (BCL6), transcript variant 2, mRNA.	13					negative regulation of B cell apoptosis|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R13G(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		ACTGGCATGGCGGGTGAACTG	0.488000			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""							
PCDHAC2	56134	broad.mit.edu	37	5	140222549	140222549	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:140222549A>G	uc003lhs.2	+	0	1643	c.1643A>G	c.(1642-1644)aAc>aGc	p.N548S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Missense_Mutation_p.N548S	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	562	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.N548I(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGGCAGCAACGTGACGCTG	0.687000												
AGL	178	broad.mit.edu	37	1	100340251	100340251	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:100340251C>T	uc001dsi.1	+	7	1367	c.967C>T	c.(967-969)Cga>Tga	p.R323*	AGL_uc001dsj.1_Nonsense_Mutation_p.R323*|AGL_uc001dsk.1_Nonsense_Mutation_p.R323*|AGL_uc001dsl.1_Nonsense_Mutation_p.R323*|AGL_uc001dsm.1_Nonsense_Mutation_p.R307*|AGL_uc001dsn.1_Nonsense_Mutation_p.R306*	NM_000642	NP_000635	P35573	GDE_HUMAN	Homo sapiens amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase (AGL), transcript variant 1, mRNA.	323					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	p.R323L(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		AGAAAATAGGCGAGTAACCAA	0.333000												
TBC1D22A	25771	broad.mit.edu	37	22	47569246	47569246	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:47569246G>A	uc003bib.3	+	12	1697	c.1531G>A	c.(1531-1533)Gcc>Acc	p.A511T	TBC1D22A_uc010haf.3_Missense_Mutation_p.A481T|TBC1D22A_uc003bie.3_Missense_Mutation_p.A433T|TBC1D22A_uc010hag.3_Non-coding_Transcript|TBC1D22A_uc003bif.3_Missense_Mutation_p.A464T	NM_014346	NP_055161	Q8WUA7	TB22A_HUMAN	Homo sapiens TBC1 domain family, member 22A (TBC1D22A), mRNA.	511						intracellular	Rab GTPase activator activity|protein homodimerization activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		TTTTGCCGACGCCCCCAATCA	0.647000												
GALC	2581	broad.mit.edu	37	14	88434718	88434718	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:88434718C>T	uc001xvt.3	-	7	976	c.869G>A	c.(868-870)cGc>cAc	p.R290H	GALC_uc010tvw.1_Non-coding_Transcript|GALC_uc010tvy.2_Missense_Mutation_p.R267H|GALC_uc010tvx.2_Missense_Mutation_p.R264H|GALC_uc010tvz.1_Missense_Mutation_p.R234H|GALC_uc001xvu.2_Missense_Mutation_p.R290H	NM_000153	NP_000144	P54803	GALC_HUMAN	Homo sapiens galactosylceramidase (GALC), transcript variant 1, mRNA.	290					carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ATTTAAAATGCGACCCCAGCA	0.343000												
EGR2	1959	broad.mit.edu	37	10	64575694	64575694	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:64575694G>A	uc010qio.2	-	1	155	c.135C>T	c.(133-135)gcC>gcT	p.A45A	EGR2_uc010qim.2_Silent_p.A32A|EGR2_uc010qin.2_5'UTR|EGR2_uc001jmi.3_Silent_p.A32A|EGR2_uc009xph.3_Silent_p.A32A	NM_001136179	NP_001129651	P11161	EGR2_HUMAN	Homo sapiens early growth response 2 (EGR2), transcript variant 4, mRNA.	32					fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	RNA polymerase II activating transcription factor binding|chromatin binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding	p.G45R(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					CCGACGTGGCGGCGAGGTCCT	0.587000												
MT1F	4494	broad.mit.edu	37	16	56693075	56693075	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:56693075G>A	uc002ejt.3	+	2	301	c.185G>A	c.(184-186)tGa>tAa	p.*62*		NM_005949	NP_005940	P04733	MT1F_HUMAN	Homo sapiens metallothionein 1F (MT1F), mRNA.	0						cytoplasm	cadmium ion binding|copper ion binding|zinc ion binding										TGCTGCGACTGATGCCAGGAC	0.517000												
WDFY1	57590	broad.mit.edu	37	2	224758990	224758990	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:224758990G>A	uc002vnq.3	-	7	843	c.792C>T	c.(790-792)ggC>ggT	p.G264G		NM_020830	NP_065881	Q8IWB7	WDFY1_HUMAN	Homo sapiens WD repeat and FYVE domain containing 1 (WDFY1), mRNA.	264						cytosol|early endosome|nucleus	1-phosphatidylinositol binding|zinc ion binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		CTGCAATTCCGCCGTCCGAGG	0.557000												
COL19A1	1310	broad.mit.edu	37	6	70639416	70639416	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:70639416C>T	uc003pfc.1	+	5	607	c.490C>T	c.(490-492)Cgt>Tgt	p.R164C	COL19A1_uc010kam.2_Missense_Mutation_p.R60C	NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	164	TSP N-terminal.				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TCGAGAACTCCGTCCTTTGTT	0.393000												
KIAA1217	56243	broad.mit.edu	37	10	24816953	24816953	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:24816953C>T	uc001iru.4	+	13	3390	c.2987C>T	c.(2986-2988)gCc>gTc	p.A996V	KIAA1217_uc001irs.3_Missense_Mutation_p.A916V|KIAA1217_uc001irt.4_Missense_Mutation_p.A961V|KIAA1217_uc010qcy.2_Missense_Mutation_p.A961V|KIAA1217_uc010qcz.2_Missense_Mutation_p.A961V|KIAA1217_uc010qda.1_Non-coding_Transcript|KIAA1217_uc001irw.3_Missense_Mutation_p.A679V|KIAA1217_uc001irz.3_Missense_Mutation_p.A679V|KIAA1217_uc001irx.3_Missense_Mutation_p.A679V|KIAA1217_uc001iry.3_Missense_Mutation_p.A679V	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	996					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GAAGCTCAGGCCAATATCATG	0.468000												
HLTF	6596	broad.mit.edu	37	3	148781227	148781227	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:148781227C>T	uc003ewq.1	-	9	1369	c.1151G>A	c.(1150-1152)cGc>cAc	p.R384H	HLTF_uc003ewr.1_Missense_Mutation_p.R384H|HLTF_uc003ews.1_Missense_Mutation_p.R384H|HLTF_uc010hve.1_Missense_Mutation_p.R384H	NM_139048	NP_620636	Q14527	HLTF_HUMAN	Homo sapiens helicase-like transcription factor (HLTF), transcript variant 2, mRNA.	384					chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	p.R384S(1)		breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			CCTTTTGGGGCGGGAGCTAGA	0.383000												
CHD6	84181	broad.mit.edu	37	20	40050618	40050618	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:40050618G>A	uc002xka.1	-	30	4835	c.4657C>T	c.(4657-4659)Ctc>Ttc	p.L1553F		NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	1553					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GGGCACTTGAGCACTTGCTCT	0.557000												
OR4C16	219428	broad.mit.edu	37	11	55339888	55339888	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:55339888C>T	uc010rih.2	+	0	285	c.285C>T	c.(283-285)tgC>tgT	p.C95C		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 16 (OR4C16), mRNA.	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E94K(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				TCAGCGAGTGCATGATCCAAG	0.468000												
TERT	7015	broad.mit.edu	37	5	1264611	1264611	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:1264611C>T	uc003jcb.1	-	10	2809	c.2751G>A	c.(2749-2751)acG>acA	p.T917T	TERT_uc003jbz.1_Silent_p.T113T|TERT_uc003jcc.1_Intron|TERT_uc003jca.1_Silent_p.T905T|TERT_uc003jcd.1_Intron|TERT_uc003jce.1_Intron|TERT_uc021xvz.1_Intron|TERT_uc021xwa.1_Intron|TERT_uc021xwb.1_Silent_p.T69T	NM_198253	NP_937983	O14746	TERT_HUMAN	Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA.	917	Required for oligomerization.|Reverse transcriptase.				DNA strand elongation|anti-apoptosis|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	PML body|cytoplasm|nucleolus|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GAACAAAAGCCGTGCCACCCA	0.622000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis			
ASB5	140458	broad.mit.edu	37	4	177136833	177136833	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:177136833C>T	uc003iuq.2	-	6	1022	c.908G>A	c.(907-909)aGc>aAc	p.S303N	ASB5_uc003iup.2_Missense_Mutation_p.S250N	NM_080874	NP_543150	Q8WWX0	ASB5_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 5 (ASB5), mRNA.	303	SOCS box.				intracellular signal transduction			p.R302*(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		TCCTATGTAGCTTCGGATACA	0.353000												
TTN	7273	broad.mit.edu	37	2	179665162	179665162	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:179665162G>A	uc021vsy.1	-	3	768	c.543C>T	c.(541-543)agC>agT	p.S181S	TTN_uc021vsz.1_Silent_p.S181S|TTN_uc021vta.1_Silent_p.S181S|TTN_uc021vtb.1_Silent_p.S181S|TTN_uc002unb.2_Silent_p.S181S|TTN_uc002und.3_Silent_p.S181S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	181	Ig-like 2.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCTTCCAACGCTATTGGTGG	0.468000												
TMEM151A	256472	broad.mit.edu	37	11	66061905	66061905	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:66061905G>A	uc001ohl.3	+	1	300	c.188G>A	c.(187-189)cGc>cAc	p.R63H		NM_153266	NP_694998	Q8N4L1	T151A_HUMAN	Homo sapiens transmembrane protein 151A (TMEM151A), mRNA.	63						integral to membrane		p.R63C(1)		central_nervous_system(1)|kidney(4)|lung(6)	11						GCCTGGTGTCGCCTGGCCACA	0.736000												
BAAT	570	broad.mit.edu	37	9	104125184	104125184	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:104125184G>A	uc010mtd.3	-	3	892	c.783C>T	c.(781-783)aaC>aaT	p.N261N	BAAT_uc004bbd.4_Silent_p.N261N	NM_001127610	NP_001692	Q14032	BAAT_HUMAN	Homo sapiens bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase) (BAAT), transcript variant 2, mRNA.	261					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	N-acyltransferase activity|carboxylesterase activity|glycine N-choloyltransferase 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)	CAAAAGGAAAGTTGGTCCCAT	0.453000												
LAT2	7462	broad.mit.edu	37	7	73636001	73636001	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:73636001C>T	uc003uag.3	+	9	917	c.367C>T	c.(367-369)Cgg>Tgg	p.R123W	LAT2_uc003uah.3_Missense_Mutation_p.R123W|LAT2_uc003uai.3_Missense_Mutation_p.R123W|LAT2_uc010lbo.3_Intron	NM_032464	NP_115853	Q9GZY6	NTAL_HUMAN	Homo sapiens linker for activation of T cells family, member 2 (LAT2), transcript variant 1, mRNA.	123					B cell activation|B cell receptor signaling pathway|calcium-mediated signaling|mast cell degranulation	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding	p.R123W(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6						CAACTGGGGGCGGTTCTCGAA	0.577000												
WWP2	11060	broad.mit.edu	37	16	69942692	69942692	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:69942692C>T	uc002exu.1	+	9	1032	c.943C>T	c.(943-945)Cgt>Tgt	p.R315C	WWP2_uc002ext.3_Missense_Mutation_p.R315C|WWP2_uc002exv.1_Missense_Mutation_p.R315C|WWP2_uc010vlm.1_Missense_Mutation_p.R199C	NM_007014	NP_008945	O00308	WWP2_HUMAN	Homo sapiens WW domain containing E3 ubiquitin protein ligase 2 (WWP2), transcript variant 1, mRNA.	315	WW 1.				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCCCAACGGACGTGTCTATTA	0.517000												
ABCF2	10061	broad.mit.edu	37	7	150912693	150912693	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:150912693T>A	uc003wjo.1	-	12	1638	c.1527A>T	c.(1525-1527)caA>caT	p.Q509H	ABCF2_uc003wjp.3_Missense_Mutation_p.Q509H	NM_005692	NP_005683	Q9UG63	ABCF2_HUMAN	Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 2 (ABCF2), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	509	ABC transporter 2.					ATP-binding cassette (ABC) transporter complex|mitochondrial envelope	ATP binding|ATPase activity|transporter activity			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TACTGACCTGTTGTTTCCCAG	0.522000												
SIPA1L1	26037	broad.mit.edu	37	14	72137841	72137841	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:72137841C>A	uc001xms.3	+	7	2622	c.2261C>A	c.(2260-2262)gCt>gAt	p.A754D	SIPA1L1_uc001xmt.3_Missense_Mutation_p.A754D|SIPA1L1_uc001xmu.3_Missense_Mutation_p.A754D|SIPA1L1_uc001xmv.3_Missense_Mutation_p.A754D|SIPA1L1_uc010ttm.2_Missense_Mutation_p.A229D	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	754	Rap-GAP.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CTCAGTGTGGCTGTTACCAGG	0.438000												
MGA	23269	broad.mit.edu	37	15	42035042	42035042	+	Nonsense_Mutation	SNP	T	T	A	rs111793456		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:42035042T>A	uc010ucy.2	+	14	5065	c.4884T>A	c.(4882-4884)taT>taA	p.Y1628*	MGA_uc010ucz.2_Intron|MGA_uc010uda.1_Nonsense_Mutation_p.Y244*	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.	1628	Thr-rich.					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		AAACTACTTATTCTTCTGGTG	0.443000												
GRB14	2888	broad.mit.edu	37	2	165353759	165353759	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:165353759C>A	uc002ucl.3	-	10	1797	c.1256G>T	c.(1255-1257)aGc>aTc	p.S419I	GRB14_uc010zcv.2_Missense_Mutation_p.S332I	NM_004490	NP_004481	Q14449	GRB14_HUMAN	Homo sapiens growth factor receptor-bound protein 14 (GRB14), mRNA.	419					blood coagulation|leukocyte migration	Golgi membrane|cytosol|endosome membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						GGCAGTGGGGCTACCGTGAGT	0.423000												
UBR4	23352	broad.mit.edu	37	1	19468163	19468163	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:19468163T>C	uc001bbi.3	-	55	8292	c.8288A>G	c.(8287-8289)gAc>gGc	p.D2763G	UBR4_uc001bbk.1_Missense_Mutation_p.D445G	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	2763					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)		ATCTCCATGGTCCACCTCACT	0.498000												
CASC1	55259	broad.mit.edu	37	12	25267782	25267782	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:25267782G>A	uc001rgk.3	-	12	1501	c.1419C>T	c.(1417-1419)ggC>ggT	p.G473G	CASC1_uc001rgj.3_Silent_p.G427G|CASC1_uc001rgm.4_Silent_p.G531G|CASC1_uc001rgl.3_Silent_p.G467G|CASC1_uc010sje.2_Silent_p.G408G|CASC1_uc010sjf.2_Silent_p.G355G|CASC1_uc010sjg.1_3'UTR	NM_018272	NP_060742	Q6TDU7	CASC1_HUMAN	Homo sapiens cancer susceptibility candidate 1 (CASC1), transcript variant 1, mRNA.	467										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			CATTGCTGATGCCATCAGTTC	0.343000												
HERC2	8924	broad.mit.edu	37	15	28389918	28389918	+	Missense_Mutation	SNP	G	G	A	rs143963667		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:28389918G>A	uc001zbj.3	-	71	11147	c.11041C>T	c.(11041-11043)Cgc>Tgc	p.R3681C		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	3681					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)		CCTGGGATGCGCAGCTCGCTG	0.577000												
LEPRE1	64175	broad.mit.edu	37	1	43213468	43213468	+	Splice_Site	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:43213468C>T	uc001chx.4	-	13	1952	c.1839_splice	c.e13-1	p.S613_splice	LEPRE1_uc001chw.2_Splice_Site_p.S613_splice|LEPRE1_uc001chv.2_Splice_Site_p.S613_splice	NM_001243246	NP_001230175	Q32P28	P3H1_HUMAN	Homo sapiens leucine proline-enriched proteoglycan (leprecan) 1 (LEPRE1), transcript variant 3, mRNA.	613	Fe2OG dioxygenase.				negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TAAAGGATGGCGCTGGGAAAG	0.557000												
PHIP	55023	broad.mit.edu	37	6	79695140	79695140	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:79695140G>A	uc011dyp.2	-	21	2689	c.2463C>T	c.(2461-2463)ggC>ggT	p.G821G	PHIP_uc003piq.3_5'Flank|PHIP_uc003pir.3_Silent_p.G822G	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN	Homo sapiens pleckstrin homology domain interacting protein (PHIP), mRNA.	822					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		CAACTACTTCGCCTTCCTAAG	0.323000												
CDH22	64405	broad.mit.edu	37	20	44845612	44845612	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:44845612G>A	uc002xrm.2	-	3	1090	c.691C>T	c.(691-693)Cct>Tct	p.P231S	CDH22_uc010ghk.1_Missense_Mutation_p.P231S|CDH22_uc002xrn.2_5'UTR	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	Homo sapiens cadherin 22, type 2 (CDH22), mRNA.	231	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				TCAAGGTCAGGCACAGCCGTC	0.657000												
ADCY7	113	broad.mit.edu	37	16	50342601	50342601	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:50342601G>A	uc002egd.1	+	15	2227	c.1959G>A	c.(1957-1959)acG>acA	p.T653T	ADCY7_uc002egc.2_Silent_p.T653T	NM_001114	NP_001105	P51828	ADCY7_HUMAN	Homo sapiens adenylate cyclase 7 (ADCY7), mRNA.	653					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	CTCGGGGGACGCTCTGCACTA	0.652000												
ZFAND3	60685	broad.mit.edu	37	6	38120051	38120051	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:38120051C>T	uc003onx.3	+	5	985	c.570C>T	c.(568-570)caC>caT	p.H190H		NM_021943	NP_068762	Q9H8U3	ZFAN3_HUMAN	Homo sapiens zinc finger, AN1-type domain 3 (ZFAND3), mRNA.	190							DNA binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(2)|ovary(1)	9						CCGAGCAGCACGACTGCACAT	0.597000												
FOXRED1	55572	broad.mit.edu	37	11	126144908	126144908	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:126144908C>T	uc001qdi.3	+	4	790	c.623C>T	c.(622-624)gCg>gTg	p.A208V	FOXRED1_uc010sbn.2_Missense_Mutation_p.A38V|FOXRED1_uc010sbq.2_Missense_Mutation_p.A75V|FOXRED1_uc010sbo.2_Intron|FOXRED1_uc010sbp.2_Missense_Mutation_p.A21V|FOXRED1_uc010sbr.2_Missense_Mutation_p.A194V|FOXRED1_uc001qdk.3_Intron	NM_017547	NP_060017	Q96CU9	FXRD1_HUMAN	Homo sapiens FAD-dependent oxidoreductase domain containing 1 (FOXRED1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	208						integral to membrane|mitochondrion	oxidoreductase activity|protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		GTGGCTTTGGCGTCTTATGGT	0.517000												
AQP6	363	broad.mit.edu	37	12	50367132	50367132	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:50367132C>T	uc001rvr.1	+	0	869	c.176C>T	c.(175-177)gCc>gTc	p.A59V	AQP6_uc001rvp.1_Intron|AQP6_uc001rvq.1_Non-coding_Transcript	NM_001652	NP_001643	Q13520	AQP6_HUMAN	Homo sapiens aquaporin 6, kidney specific (AQP6), mRNA.	59					excretion|odontogenesis	integral to plasma membrane|transport vesicle membrane	anion channel activity|water channel activity	p.A59A(1)		endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2)	13						CTACAGATTGCCATCACCTTC	0.642000												
ALDH4A1	8659	broad.mit.edu	37	1	19199402	19199402	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:19199402C>T	uc001bbb.3	-	14	1905	c.1629G>A	c.(1627-1629)tcG>tcA	p.S543S	ALDH4A1_uc010ocu.2_Silent_p.S483S|ALDH4A1_uc001bbc.3_Silent_p.S543S|ALDH4A1_uc021ohl.1_Silent_p.S492S	NM_170726	NP_001154976	P30038	AL4A1_HUMAN	Homo sapiens aldehyde dehydrogenase 4 family, member A1 (ALDH4A1), nuclear gene encoding mitochondrial protein, transcript variant P5CDhS, mRNA.	543					proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	NADH(DB00157)	TGACCTGCGGCGACGTCCAGC	0.587000												
PLVAP	83483	broad.mit.edu	37	19	17487766	17487766	+	Missense_Mutation	SNP	C	C	T	rs144117840		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:17487766C>T	uc002ngk.1	-	0	372	c.332G>A	c.(331-333)cGc>cAc	p.R111H		NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN	Homo sapiens plasmalemma vesicle associated protein (PLVAP), mRNA.	111						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGCATTGATGCGGTCCAGGTC	0.637000												
OR52W1	120787	broad.mit.edu	37	11	6220850	6220850	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:6220850C>T	uc010qzz.2	+	0	397	c.397C>T	c.(397-399)Cgt>Tgt	p.R133C		NM_001005178	NP_001005178	Q6IF63	O52W1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily W, member 1 (OR52W1), mRNA.	133					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R133C(4)		endometrium(2)|kidney(2)|large_intestine(1)|lung(6)	11		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;2.13e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCAATAGGGCGTCCACTGCA	0.547000												
DPP10	57628	broad.mit.edu	37	2	116572398	116572398	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:116572398C>T	uc002tle.3	+	19	1763	c.1742C>T	c.(1741-1743)aCa>aTa	p.T581I	DPP10_uc002tla.2_Missense_Mutation_p.T577I|DPP10_uc002tlb.2_Missense_Mutation_p.T527I|DPP10_uc002tlc.2_Missense_Mutation_p.T573I|DPP10_uc002tlf.2_Missense_Mutation_p.T570I	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN	Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.	577					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						CAGCTGGTTACAGATAAGTTC	0.408000												
KEAP1	9817	broad.mit.edu	37	19	10610610	10610610	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:10610610C>T	uc002moq.1	-	1	256	c.100G>A	c.(100-102)Gcc>Acc	p.A34T	KEAP1_uc002mor.1_Missense_Mutation_p.A34T	NM_012289	NP_987096	Q14145	KEAP1_HUMAN	Homo sapiens kelch-like ECH-associated protein 1 (KEAP1), transcript variant 2, mRNA.	34					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			TCAGTGGAGGCGTACATCACC	0.647000												
PCDHAC2	56134	broad.mit.edu	37	5	140261998	140261998	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:140261998G>A	uc003lif.2	+	0	145	c.145G>A	c.(145-147)Gct>Act	p.A49T	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Missense_Mutation_p.A49T|PCDHAC2_uc003lid.3_Missense_Mutation_p.A49T	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.	62	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCCGCATCGCTCAGGACCT	0.642000												
MYO1F	4542	broad.mit.edu	37	19	8595407	8595407	+	Silent	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:8595407T>C	uc002mkg.3	-	19	2232	c.2094A>G	c.(2092-2094)cgA>cgG	p.R698R		NM_012335	NP_036467	O00160	MYO1F_HUMAN	Homo sapiens myosin IF (MYO1F), mRNA.	698	IQ.					unconventional myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						TCTGGATGGTTCGGGCAAAGC	0.667000												
GRAMD1B	57476	broad.mit.edu	37	11	123479434	123479434	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:123479434C>T	uc001pyw.2	+	11	1502	c.1173C>T	c.(1171-1173)agC>agT	p.S391S	GRAMD1B_uc001pyx.2_Silent_p.S384S|GRAMD1B_uc010rzw.2_Silent_p.S344S|GRAMD1B_uc010rzx.1_Silent_p.S344S|GRAMD1B_uc009zbe.1_Silent_p.S380S|GRAMD1B_uc001pyy.2_Silent_p.S75S	NM_020716	NP_065767	Q3KR37	GRM1B_HUMAN	Homo sapiens GRAM domain containing 1B (GRAMD1B), mRNA.	384						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		TCAACTTCAGCGTGGACAAGC	0.557000												
RYR1	6261	broad.mit.edu	37	19	38976521	38976521	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:38976521C>T	uc002oit.3	+	33	5356	c.5226C>T	c.(5224-5226)cgC>cgT	p.R1742R	RYR1_uc002oiu.3_Silent_p.R1742R	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	1742	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CTGAGACCCGCGCCATCACGC	0.627000												
RAPGEF2	9693	broad.mit.edu	37	4	160275010	160275010	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:160275010C>T	uc003iqg.4	+	21	4290	c.3980C>T	c.(3979-3981)gCg>gTg	p.A1327V		NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 2 (RAPGEF2), mRNA.	1327					MAPKKK cascade|cAMP-mediated signaling|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|calcium ion binding|diacylglycerol binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		GCAAGCTGGGCGTCTTCCACA	0.473000												
OR8H2	390151	broad.mit.edu	37	11	55872941	55872941	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:55872941C>T	uc010riy.2	+	0	423	c.423C>T	c.(421-423)tgC>tgT	p.C141C		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 2 (OR8H2), mRNA.	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					AAAGGCTCTGCCTCGCTCTCA	0.458000										HNSCC(53;0.14)		
SSTR4	6754	broad.mit.edu	37	20	23016316	23016316	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:23016316G>A	uc002wsr.2	+	0	260	c.196G>A	c.(196-198)Gcc>Acc	p.A66T		NM_001052	NP_001043	P31391	SSR4_HUMAN	Homo sapiens somatostatin receptor 4 (SSTR4), mRNA.	66					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	p.A66T(2)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GGTGGGCAACGCCCTGGTCAT	0.657000												
TTN	7273	broad.mit.edu	37	2	179417976	179417976	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:179417976G>A	uc021vsy.1	-	283	82172	c.81947C>T	c.(81946-81948)gCc>gTc	p.A27316V	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.A21011V|TTN_uc021vta.1_Missense_Mutation_p.A20944V|TTN_uc021vtb.1_Missense_Mutation_p.A20819V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	28243	Fibronectin type-III 99.						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)			GCTGTATCTGGCATCACTGCC	0.403000												
HMCN1	83872	broad.mit.edu	37	1	186147696	186147696	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:186147696C>T	uc001grq.1	+	103	16321	c.16092C>T	c.(16090-16092)ggC>ggT	p.G5364G	MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	5364					response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAAATTATGGCACTCAATACA	0.483000												
TEC	7006	broad.mit.edu	37	4	48230566	48230566	+	Silent	SNP	C	C	T	rs143430739	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:48230566C>T	uc003gxz.3	-	1	157	c.66G>A	c.(64-66)tcG>tcA	p.S22S		NM_003215	NP_003206	P42680	TEC_HUMAN	Homo sapiens tec protein tyrosine kinase (TEC), mRNA.	22	PH.				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						AGTTTAAGGGCGATGTCTTCT	0.388000												
ARAP1	116985	broad.mit.edu	37	11	72420943	72420943	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:72420943C>T	uc001osu.3	-	10	1684	c.1495G>A	c.(1495-1497)Gac>Aac	p.D499N	ARAP1_uc001osv.3_Missense_Mutation_p.D499N|ARAP1_uc001osr.3_Missense_Mutation_p.D259N|ARAP1_uc001oss.3_Missense_Mutation_p.D254N|ARAP1_uc009yth.3_Missense_Mutation_p.D254N|ARAP1_uc010rre.2_Missense_Mutation_p.D254N	NM_001040118	NP_056057	Q96P48	ARAP1_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 (ARAP1), transcript variant 3, mRNA.	499	PH 2.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	Golgi cisterna membrane|cytosol|plasma membrane	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						GTGGTGAGGTCGAAGCTGCGC	0.587000												
FMN1	342184	broad.mit.edu	37	15	33256409	33256409	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:33256409G>A	uc001zhf.4	-	4	2368	c.2368C>T	c.(2368-2370)Cgg>Tgg	p.R790W		NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	Homo sapiens formin 1 (FMN1), mRNA.	1013	Mediates interaction with alpha-catenin (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		CTGGGGTCCCGAATGTCAGGT	0.373000												
PNLIPRP3	119548	broad.mit.edu	37	10	118228829	118228829	+	Splice_Site	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:118228829C>T	uc001lcl.4	+	9	1161	c.1060_splice	c.e9+1	p.R354_splice		NM_001011709	NP_001011709	Q17RR3	LIPR3_HUMAN	Homo sapiens pancreatic lipase-related protein 3 (PNLIPRP3), mRNA.	354					lipid catabolic process	extracellular region	triglyceride lipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		CCCATTTGCCCGTAAGTATCA	0.328000												
DHX34	9704	broad.mit.edu	37	19	47876049	47876049	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:47876049G>A	uc010xyn.2	+	7	2180	c.1831G>A	c.(1831-1833)Gca>Aca	p.A611T	DHX34_uc010elc.1_Missense_Mutation_p.A526T	NM_014681	NP_055496	Q14147	DHX34_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 34 (DHX34), mRNA.	611						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		CATCGCAGCCGCACTTAGCGT	0.687000												
CLASP2	23122	broad.mit.edu	37	3	33617676	33617676	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:33617676C>T	uc021wvc.1	-	23	2653	c.2442G>A	c.(2440-2442)gcG>gcA	p.A814A	CLASP2_uc003cfs.3_Silent_p.A13A|CLASP2_uc021wva.1_5'UTR|CLASP2_uc021wvb.1_Silent_p.A601A|CLASP2_uc011axt.1_Silent_p.A406A	NM_015097	NP_055912	B2RTR1	B2RTR1_HUMAN	Homo sapiens cytoplasmic linker associated protein 2 (CLASP2), transcript variant 1, mRNA.	814										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						CATCTGCCACCGCCTCCTCCA	0.453000												
TFEB	7942	broad.mit.edu	37	6	41654874	41654874	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:41654874C>T	uc021yzl.1	-	5	963	c.962G>A	c.(961-963)cGc>cAc	p.R321H	TFEB_uc003oqs.1_Missense_Mutation_p.R254H|TFEB_uc003oqt.1_Missense_Mutation_p.R254H|TFEB_uc003oqu.1_Missense_Mutation_p.R254H|TFEB_uc003oqv.1_Missense_Mutation_p.R254H|TFEB_uc003oqr.1_Missense_Mutation_p.R169H	NM_007162	NP_009093	P19484	TFEB_HUMAN	Homo sapiens transcription factor EB (TFEB), transcript variant 1, mRNA.	254					embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			CTCCTTGATGCGGTCATTGAT	0.537000			T	ALPHA	renal (childhood epithelioid)							
TRRAP	8295	broad.mit.edu	37	7	98478778	98478778	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:98478778C>T	uc003upp.3	+	1	214	c.5C>T	c.(4-6)gCg>gTg	p.A2V	TRRAP_uc011kis.2_Missense_Mutation_p.A2V|MIR3609_uc022ahx.1_5'Flank	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	2					histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AGAAAAATGGCGTTTGTTGCA	0.443000												
BCAS3	54828	broad.mit.edu	37	17	59155837	59155837	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:59155837G>A	uc002iyv.4	+	21	2428	c.2319G>A	c.(2317-2319)acG>acA	p.T773T	BCAS3_uc002iyu.4_Silent_p.T758T|BCAS3_uc002iyw.4_Silent_p.T754T|BCAS3_uc002iyy.4_Silent_p.T529T|BCAS3_uc002iyz.4_Silent_p.T327T|BCAS3_uc002iza.4_Silent_p.T312T	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	Homo sapiens breast carcinoma amplified sequence 3 (BCAS3), transcript variant 1, mRNA.	773						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			CGAGTGACACGCCACAGCCTC	0.438000												
DOCK3	1795	broad.mit.edu	37	3	51418570	51418570	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:51418570C>T	uc011bds.2	+	52	5696	c.5673C>T	c.(5671-5673)agC>agT	p.S1891S		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	1891						cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GTGCCAGCAGCGGCGTGTCCT	0.622000												
FRMPD4	9758	broad.mit.edu	37	X	12736508	12736508	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:12736508C>T	uc004cuz.2	+	15	4069	c.3563C>T	c.(3562-3564)gCc>gTc	p.A1188V	FRMPD4_uc011mij.2_Missense_Mutation_p.A1180V	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.	1188					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						GAGAGTGTGGCCCGCCTTTGT	0.552000												
PRDM2	7799	broad.mit.edu	37	1	14105372	14105372	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:14105372C>T	uc001avi.3	+	7	1938	c.1082C>T	c.(1081-1083)cCg>cTg	p.P361L	PRDM2_uc001avg.3_Intron|PRDM2_uc001avh.3_Missense_Mutation_p.P361L|PRDM2_uc021ogk.1_Missense_Mutation_p.P124L|PRDM2_uc001avk.3_Missense_Mutation_p.P160L|PRDM2_uc009voe.3_Intron|PRDM2_uc009vof.3_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	Homo sapiens PR domain containing 2, with ZNF domain (PRDM2), transcript variant 1, mRNA.	361						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P361Q(2)		endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		TTTATGTTTCCGTGTCAACAT	0.423000												
STK35	140901	broad.mit.edu	37	20	2097969	2097969	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:2097969G>A	uc002wfw.4	+	2	1550	c.1550G>A	c.(1549-1551)cGg>cAg	p.R517Q	STK35_uc010zpu.2_Intron	NM_080836	NP_543026	Q8TDR2	STK35_HUMAN	Homo sapiens serine/threonine kinase 35 (STK35), mRNA.	517	Protein kinase.					cytoplasm|nucleolus	ATP binding|protein serine/threonine kinase activity			large_intestine(2)|liver(2)|lung(6)|ovary(1)|prostate(2)	13						CCACAGGACCGGCCTGATGCC	0.473000												
MED25	81857	broad.mit.edu	37	19	50334046	50334046	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:50334046G>A	uc002ppw.2	+	8	1066	c.1003G>A	c.(1003-1005)Gcc>Acc	p.A335T	MED25_uc010ybe.2_Missense_Mutation_p.A122T|MED25_uc002ppx.1_Missense_Mutation_p.A116T	NM_030973	NP_112235	Q71SY5	MED25_HUMAN	Homo sapiens mediator complex subunit 25 (MED25), mRNA.	335	Pro-rich.		A -> V (in CMT2B2).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		ACCCCCTGGCGCCCCCAAGCC	0.706000												
TIAM2	26230	broad.mit.edu	37	6	155532392	155532392	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:155532392G>T	uc003qqb.3	+	16	4392	c.3119G>T	c.(3118-3120)gGc>gTc	p.G1040V	TIAM2_uc003qqe.3_Missense_Mutation_p.G1040V|TIAM2_uc010kjj.3_Missense_Mutation_p.G573V|TIAM2_uc003qqf.3_Missense_Mutation_p.G416V|TIAM2_uc011efl.1_Missense_Mutation_p.G376V|TIAM2_uc003qqg.3_Missense_Mutation_p.G352V	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	1040					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CAGACAGATGGCACTCTGGAT	0.453000												
BACH2	60468	broad.mit.edu	37	6	90718450	90718450	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:90718450G>A	uc011eab.2	-	5	988	c.114C>T	c.(112-114)gaC>gaT	p.D38D	BACH2_uc003pnw.3_Silent_p.D38D|BACH2_uc010kch.3_Silent_p.D38D	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	Homo sapiens BTB and CNC homology 1, basic leucine zipper transcription factor 2 (BACH2), transcript variant 1, mRNA.	38	BTB.					nucleus	protein dimerization activity|sequence-specific DNA binding	p.D38N(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		TCAAAGTCACGTCACAGAGAA	0.537000												
TRMT2B	79979	broad.mit.edu	37	X	100297067	100297067	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:100297067C>A	uc004egt.3	-	2	625	c.212G>T	c.(211-213)aGc>aTc	p.S71I	TRMT2B_uc004egu.3_Intron|TRMT2B_uc004egr.3_Missense_Mutation_p.S71I|TRMT2B_uc004egv.3_Missense_Mutation_p.S71I|TRMT2B_uc004egq.3_Missense_Mutation_p.S71I|TRMT2B_uc004egs.3_Missense_Mutation_p.S71I	NM_001167970	NP_079193	Q96GJ1	TRM2_HUMAN	Homo sapiens TRM2 tRNA methyltransferase 2 homolog B (S. cerevisiae) (TRMT2B), transcript variant 2, mRNA.	71							tRNA (uracil-5-)-methyltransferase activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						TCCAAGATGGCTTGGTTTCTT	0.473000												
NIN	51199	broad.mit.edu	37	14	51210171	51210171	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:51210171G>A	uc001wyi.3	-	23	5455	c.5264C>T	c.(5263-5265)gCg>gTg	p.A1755V	NIN_uc001wyj.3_Non-coding_Transcript|NIN_uc001wym.2_Missense_Mutation_p.A1755V|NIN_uc001wyk.3_Missense_Mutation_p.A1042V|NIN_uc001wyo.3_Missense_Mutation_p.A1755V	NM_020921	NP_065972	Q8N4C6	NIN_HUMAN	Homo sapiens ninein (GSK3B interacting protein) (NIN), transcript variant 2, mRNA.	1755					centrosome localization	centrosome|microtubule	GTP binding|calcium ion binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					CTTTAAGCTCGCACTCTGATG	0.423000			T	PDGFRB	MPD							
UBXN4	23190	broad.mit.edu	37	2	136513161	136513161	+	Silent	SNP	G	G	A	rs149655604	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:136513161G>A	uc002tur.3	+	4	719	c.408G>A	c.(406-408)gcG>gcA	p.A136A	UBXN4_uc002tus.3_5'UTR	NM_014607	NP_055422	Q92575	UBXN4_HUMAN	Homo sapiens UBX domain protein 4 (UBXN4), mRNA.	136					response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding	p.A136A(4)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						CTCCATCTGCGTCATTTGAAC	0.393000												
INHBA	3624	broad.mit.edu	37	7	41729601	41729601	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:41729601G>A	uc003thq.3	-	1	1163	c.928C>T	c.(928-930)Cgg>Tgg	p.R310W	INHBA_uc003thr.3_Missense_Mutation_p.R310W	NM_002192	NP_002183	P08476	INHBA_HUMAN	Homo sapiens inhibin, beta A (INHBA), mRNA.	310					G1/S transition of mitotic cell cycle|cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						TCCAAGCCCCGCCGACGCCGG	0.562000										TSP Lung(11;0.080)		
RPE65	6121	broad.mit.edu	37	1	68912408	68912408	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:68912408A>T	uc001dei.1	-	2	284	c.230T>A	c.(229-231)gTc>gAc	p.V77D		NM_000329	NP_000320	Q16518	RPE65_HUMAN	Homo sapiens retinal pigment epithelium-specific protein 65kDa (RPE65), mRNA.	77					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						GTGGTATGTGACATGTCCTTC	0.502000												
BCKDHA	593	broad.mit.edu	37	19	41884222	41884222	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:41884222G>A	uc002oqm.4	+	1	359	c.8G>A	c.(7-9)aGc>aAc	p.S3N	BCKDHA_uc002oqi.3_Missense_Mutation_p.S3N|BCKDHA_uc010ehq.3_Missense_Mutation_p.S3N|BCKDHA_uc010ehr.3_Missense_Mutation_p.S3N|BCKDHA_uc002oqk.4_Missense_Mutation_p.S3N|BCKDHA_uc010eht.3_Missense_Mutation_p.S3N|BCKDHA_uc010ehs.3_Missense_Mutation_p.S3N|BCKDHA_uc002oqn.3_Missense_Mutation_p.S3N	NM_000709	NP_000700	P12694	ODBA_HUMAN	Homo sapiens branched chain keto acid dehydrogenase E1, alpha polypeptide (BCKDHA), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	0				V -> G (in Ref. 4; AAB20222/AAB19268).	branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						GCCATGGACAGCCCTAGTCTT	0.552000												
ZMYND19	116225	broad.mit.edu	37	9	140481457	140481457	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:140481457G>A	uc004cno.1	-	3	543	c.321C>T	c.(319-321)ggC>ggT	p.G107G		NM_138462	NP_612471	Q96E35	ZMY19_HUMAN	Homo sapiens zinc finger, MYND-type containing 19 (ZMYND19), mRNA.	107						Golgi apparatus|plasma membrane	zinc ion binding			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		TGGGCCGCCAGCCCCACGGCA	0.677000												
DNAH2	146754	broad.mit.edu	37	17	7646274	7646274	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:7646274G>A	uc002giu.1	+	10	1732	c.1718G>A	c.(1717-1719)cGt>cAt	p.R573H	DNAH2_uc002git.3_Missense_Mutation_p.R655H|DNAH2_uc010vuk.2_Missense_Mutation_p.R573H	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	573	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)				TTCCTGCCCCGTATTGGGACT	0.562000												
MUC16	94025	broad.mit.edu	37	19	9067419	9067419	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:9067419G>A	uc002mkp.3	-	2	20231	c.20027C>T	c.(20026-20028)gCt>gTt	p.A6676V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6678	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						GTGAAGGACAGCACTTTTCTC	0.507000												
GRIN2B	2904	broad.mit.edu	37	12	13717182	13717182	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:13717182G>A	uc001rbt.2	-	12	3169	c.2990C>T	c.(2989-2991)gCc>gTc	p.A997V		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	997					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|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)	GATGGAGCTGGCACTGCCAAT	0.582000												
NDUFB9	4715	broad.mit.edu	37	8	125555399	125555399	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:125555399C>T	uc011lim.1	+	1	258	c.173C>T	c.(172-174)gCg>gTg	p.A58V	NDUFB9_uc003yrg.4_Missense_Mutation_p.A58V	NM_005005	NP_004996	Q9Y6M9	NDUB9_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa (NDUFB9), nuclear gene encoding mitochondrial protein, mRNA.	58					mitochondrial electron transport, NADH to ubiquinone|sensory perception of sound|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	p.M57I(1)		kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)		NADH(DB00157)	AAGGATATGGCGAAGGCCACC	0.463000												
TGFB3	7043	broad.mit.edu	37	14	76431997	76431997	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:76431997G>A	uc001xsc.2	-	3	1544	c.688C>T	c.(688-690)Cac>Tac	p.H230Y	TGFB3_uc001xsd.3_Missense_Mutation_p.H228Y	NM_003239	NP_003230	P10600	TGFB3_HUMAN	Homo sapiens transforming growth factor, beta 3 (TGFB3), mRNA.	230					cell growth|cell-cell junction organization|detection of hypoxia|face morphogenesis|in utero embryonic development|induction of apoptosis|lung alveolus development|mammary gland development|menstrual cycle phase|negative regulation of DNA replication|negative regulation of cell proliferation|negative regulation of macrophage cytokine production|negative regulation of neuron apoptosis|odontogenesis|ossification involved in bone remodeling|palate development|platelet activation|platelet degranulation|positive regulation of DNA replication|positive regulation of SMAD protein import into nucleus|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of collagen biosynthetic process|positive regulation of epithelial to mesenchymal transition|positive regulation of filopodium assembly|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein secretion|positive regulation of transcription from RNA polymerase II promoter|response to progesterone stimulus|salivary gland morphogenesis|transforming growth factor beta receptor signaling pathway	extracellular matrix|platelet alpha granule lumen	growth factor activity|identical protein binding|transforming growth factor beta binding|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.0169)		TGAAAGGTGTGACATGGACAG	0.423000												
LOC649330	649330	broad.mit.edu	37	1	12907861	12907861	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:12907861G>A	uc010obf.2	-	1	508	c.282C>T	c.(280-282)aaC>aaT	p.N94N	LOC649330_uc009vno.2_Silent_p.N94N	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.	94							nucleic acid binding|nucleotide binding										TCACACCTGCGTTTCCTCGGT	0.488000												
TTN	7273	broad.mit.edu	37	2	179633400	179633400	+	Splice_Site	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:179633400C>A	uc021vsy.1	-	38	9388	c.9163_splice	c.e38+1	p.A3055_splice	TTN_uc021vsz.1_Splice_Site_p.A3009_splice|TTN_uc021vta.1_Splice_Site_p.A3009_splice|TTN_uc021vtb.1_Splice_Site_p.A3009_splice|TTN_uc002unb.2_Splice_Site_p.A3055_splice	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	3055							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)			GAAACCATACCTTCCACATAA	0.358000												
CHD2	1106	broad.mit.edu	37	15	93540578	93540578	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:93540578G>A	uc002bsp.3	+	29	4405	c.3830G>A	c.(3829-3831)gGc>gAc	p.G1277D	CHD2_uc002bso.1_Missense_Mutation_p.G1277D	NM_001271	NP_001262	O14647	CHD2_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 2 (CHD2), transcript variant 1, mRNA.	1277					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TATGAACATGGCTATGGAAAC	0.408000												
SVEP1	79987	broad.mit.edu	37	9	113168502	113168502	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:113168502C>T	uc010mtz.3	-	37	9715	c.9378G>A	c.(9376-9378)ccG>ccA	p.P3126P	SVEP1_uc010mty.3_Silent_p.P1052P	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	3126	Sushi 29.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TGGCGACAGACGGTGGGGACC	0.527000												
PAM	5066	broad.mit.edu	37	5	102237087	102237087	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:102237087C>T	uc003knt.3	+	2	611	c.238C>T	c.(238-240)Cga>Tga	p.R80*	PAM_uc003knw.3_Nonsense_Mutation_p.R80*|PAM_uc003kns.3_Nonsense_Mutation_p.R80*|PAM_uc003knu.3_Nonsense_Mutation_p.R80*|PAM_uc011cuz.2_Intron|PAM_uc003knv.3_Nonsense_Mutation_p.R80*	NM_000919	NP_000910	P19021	AMD_HUMAN	Homo sapiens peptidylglycine alpha-amidating monooxygenase (PAM), transcript variant 1, mRNA.	80	Peptidylglycine alpha-hydroxylating monooxygenase (By similarity).				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	CATGTCTATGCGAATACCAGT	0.348000												
PDHX	8050	broad.mit.edu	37	11	34988196	34988196	+	Silent	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:34988196C>A	uc001mvt.3	+	5	1177	c.651C>A	c.(649-651)ctC>ctA	p.L217L	PDHX_uc010rep.2_Silent_p.L202L|PDHX_uc010req.2_Intron	NM_003477	NP_003468	O00330	ODPX_HUMAN	Homo sapiens pyruvate dehydrogenase complex, component X (PDHX), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	217					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	acyltransferase activity	p.A216S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	16	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	STAD - Stomach adenocarcinoma(6;0.00113)			GGGATGCTCTCAAACTTGTCC	0.468000												
NFRKB	4798	broad.mit.edu	37	11	129740016	129740016	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:129740016C>T	uc001qfg.3	-	21	3100	c.2979G>A	c.(2977-2979)acG>acA	p.T993T	NFRKB_uc001qfi.3_Silent_p.T968T|NFRKB_uc001qfh.3_Silent_p.T991T|NFRKB_uc010sbw.1_Silent_p.T978T|NFRKB_uc009zcr.3_Silent_p.T254T	NM_006165	NP_006156	Q6P4R8	NFRKB_HUMAN	Homo sapiens nuclear factor related to kappaB binding protein (NFRKB), transcript variant 2, mRNA.	968					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		TTCGCAGAACCGTCTGGCCCT	0.552000												
FAIM3	9214	broad.mit.edu	37	1	207087292	207087292	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:207087292A>G	uc001hey.3	-	1	364	c.185T>C	c.(184-186)gTa>gCa	p.V62A	FAIM3_uc010prz.2_Intron|FAIM3_uc021pif.1_Missense_Mutation_p.V62A|FAIM3_uc010psa.2_Silent_p.G5G	NM_005449	NP_005440	O60667	FAIM3_HUMAN	Homo sapiens Fas apoptotic inhibitory molecule 3 (FAIM3), transcript variant 1, mRNA.	62	Ig-like.				anti-apoptosis|cellular defense response	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(84;0.201)					GGTGGTGGATACCACGGTACC	0.502000												
OR51D1	390038	broad.mit.edu	37	11	4661818	4661818	+	Silent	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:4661818A>G	uc010qyk.2	+	0	874	c.798A>G	c.(796-798)gtA>gtG	p.V266V		NM_001004751	NP_001004751	Q8NGF3	O51D1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily D, member 1 (OR51D1), mRNA.	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCTTCTATGTACCCCTCATTG	0.552000												
OR51E1	143503	broad.mit.edu	37	11	4674699	4674699	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:4674699G>A	uc021qcq.1	+	0	943	c.943G>A	c.(943-945)Gct>Act	p.A315T	OR51E1_uc001lzi.4_Missense_Mutation_p.A315T	NM_152430	NP_689643	Q8TCB6	O51E1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 1 (OR51E1), mRNA.	314					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGCCACACACGCTTCAGAGCC	0.433000												
RAB6B	51560	broad.mit.edu	37	3	133557073	133557073	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:133557073G>A	uc003epy.3	-	5	813	c.432C>T	c.(430-432)cgC>cgT	p.R144R	RAB6B_uc011blu.1_Silent_p.R131R	NM_016577	NP_057661	Q9NRW1	RAB6B_HUMAN	Homo sapiens RAB6B, member RAS oncogene family (RAB6B), mRNA.	144					protein transport|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction	Golgi membrane|cytoplasmic membrane-bounded vesicle	GTP binding|GTPase activity|protein binding	p.R144H(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	11						GTTCTTTGGCGCGCTGCTCCC	0.602000												
ZNF630	57232	broad.mit.edu	37	X	47926265	47926265	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:47926265A>G	uc004div.4	-	1	262	c.10T>C	c.(10-12)Tcc>Ccc	p.S4P	ZNF630_uc010nhz.1_Non-coding_Transcript|ZNF630_uc022bvr.1_Missense_Mutation_p.S4P|ZNF630_uc022bvs.1_Missense_Mutation_p.S4P	NM_001037735	NP_001032824	Q2M218	ZN630_HUMAN	Homo sapiens zinc finger protein 630 (ZNF630), transcript variant 1, mRNA.	4					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						CTTACCTGGGACTCAATCATT	0.413000												
SRMS	6725	broad.mit.edu	37	20	62174716	62174716	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:62174716G>A	uc002yfi.1	-	2	637	c.596C>T	c.(595-597)gCc>gTc	p.A199V		NM_080823	NP_543013	Q9H3Y6	SRMS_HUMAN	Homo sapiens src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites (SRMS), mRNA.	199	SH2.						ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			CTTCCAGTTGGCCTTGTAGTA	0.652000												
BRCA2	675	broad.mit.edu	37	13	32944628	32944628	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:32944628G>A	uc001uub.1	+	18	8648	c.8421G>A	c.(8419-8421)tcG>tcA	p.S2807S		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	2807					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CCTTATCATCGCTTTTCAGTG	0.398000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)		
PPM1B	5495	broad.mit.edu	37	2	44428873	44428873	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:44428873C>T	uc002rtt.3	+	1	963	c.535C>T	c.(535-537)Cga>Tga	p.R179*	PPM1B_uc002rts.3_Nonsense_Mutation_p.R179*|PPM1B_uc002rtu.3_Nonsense_Mutation_p.R179*|PPM1B_uc002rtv.3_Intron|PPM1B_uc002rtw.3_Nonsense_Mutation_p.R179*|PPM1B_uc002rtx.3_Nonsense_Mutation_p.R179*	NM_002706	NP_002697	O75688	PPM1B_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1B (PPM1B), transcript variant 1, mRNA.	179					protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GGAAAAGGAGCGAATCCAAAA	0.448000												
MARK3	4140	broad.mit.edu	37	14	103941507	103941507	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:103941507C>T	uc001ymz.4	+	12	2108	c.1442C>T	c.(1441-1443)gCg>gTg	p.A481V	MARK3_uc001ymx.4_Missense_Mutation_p.A481V|MARK3_uc001ymw.4_Missense_Mutation_p.A481V|MARK3_uc001yna.4_Missense_Mutation_p.A465V|MARK3_uc001ymy.4_Missense_Mutation_p.A402V|MARK3_uc010awp.3_Missense_Mutation_p.A504V|MARK3_uc010tyb.2_Missense_Mutation_p.A276V|MARK3_uc010awq.3_Missense_Mutation_p.A11V	NM_001128918	NP_001122390	P27448	MARK3_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 3 (MARK3), transcript variant 1, mRNA.	481							ATP binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			CCTAATAAGGCGGATATTCCT	0.483000												
SRCAP	10847	broad.mit.edu	37	16	30732759	30732759	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:30732759G>A	uc002dze.1	+	20	3888	c.3503G>A	c.(3502-3504)cGc>cAc	p.R1168H	SRCAP_uc021tgn.1_Missense_Mutation_p.R1168H|SRCAP_uc002dzf.3_Intron|SRCAP_uc002dzg.1_Missense_Mutation_p.R1025H	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	1168	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GCACCACAGCGCCTCATTCTA	0.597000												
TMEM106B	54664	broad.mit.edu	37	7	12263863	12263863	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:12263863T>C	uc011jxk.2	+	4	693	c.293T>C	c.(292-294)gTg>gCg	p.V98A	TMEM106B_uc003ssh.3_Missense_Mutation_p.V98A	NM_018374	NP_060844	Q9NUM4	T106B_HUMAN	Homo sapiens transmembrane protein 106B (TMEM106B), transcript variant 1, mRNA.	98						integral to membrane				NS(1)|endometrium(8)|large_intestine(2)|lung(7)	18				UCEC - Uterine corpus endometrioid carcinoma (126;0.185)		AAGCTGTATGTGATGGCTTCT	0.383000												
ZNF516	9658	broad.mit.edu	37	18	74154862	74154862	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:74154862G>A	uc021ulp.1	-	2	467	c.149C>T	c.(148-150)tCg>tTg	p.S50L		NM_014643	NP_055458	Q92618	ZN516_HUMAN	Homo sapiens zinc finger protein 516 (ZNF516), mRNA.	50					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CATGTGCTGCGAAAGCGAGCT	0.642000												
TSPAN5	10098	broad.mit.edu	37	4	99407956	99407956	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:99407956A>G	uc003hub.3	-	2	647	c.212T>C	c.(211-213)gTg>gCg	p.V71A	TSPAN5_uc011cdz.2_5'UTR	NM_005723	NP_005714	P62079	TSN5_HUMAN	Homo sapiens tetraspanin 5 (TSPAN5), mRNA.	71						integral to membrane				kidney(2)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;1.89e-07)		AATGAACATCACTCCTCCCAC	0.483000												
C7orf25	79020	broad.mit.edu	37	7	42949911	42949911	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:42949911C>T	uc003thx.4	-	1	1248	c.763G>A	c.(763-765)Gct>Act	p.A255T	C7orf25_uc010kxq.3_Missense_Mutation_p.A197T|C7orf25_uc010kxr.3_Missense_Mutation_p.A255T|C7orf25_uc022ace.1_Missense_Mutation_p.A197T	NM_001099858	NP_076959	Q9BPX7	CG025_HUMAN	Homo sapiens chromosome 7 open reading frame 25 (C7orf25), transcript variant 1, mRNA.	197										endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						TCTAACAGAGCGTTGACTGCT	0.458000												
OR51B6	390058	broad.mit.edu	37	11	5373588	5373588	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:5373588T>C	uc010qzb.2	+	0	851	c.851T>C	c.(850-852)tTt>tCt	p.F284S	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004750	NP_001004750	Q9H340	O51B6_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 6 (OR51B6), mRNA.	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F284C(2)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTCCCACCTTTTATGAACCCA	0.388000												
MCHR2	84539	broad.mit.edu	37	6	100403950	100403950	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:100403950G>T	uc003pqh.1	-	1	389	c.74C>A	c.(73-75)gCt>gAt	p.A25D	MCHR2_uc003pqi.1_Missense_Mutation_p.A25D	NM_001040179	NP_115892	Q969V1	MCHR2_HUMAN	Homo sapiens melanin-concentrating hormone receptor 2 (MCHR2), transcript variant 1, mRNA.	25						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		AGTTTGATAAGCAAACTCTTT	0.418000												
TRPM1	4308	broad.mit.edu	37	15	31362319	31362319	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:31362319G>T	uc021sia.1	-	2	559	c.245C>A	c.(244-246)tCt>tAt	p.S82Y	TRPM1_uc010azy.3_5'Flank|TRPM1_uc001zfl.3_5'Flank|TRPM1_uc021shz.1_Missense_Mutation_p.S65Y|TRPM1_uc001zfm.3_Missense_Mutation_p.S43Y|TRPM1_uc001zfn.4_Missense_Mutation_p.S43Y|TRPM1_uc010ubn.1_Non-coding_Transcript	NM_001252020	NP_001238949	Q7Z4N2	TRPM1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA.	43					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CTTGGCAACAGACCATTTCTC	0.502000												
FYCO1	79443	broad.mit.edu	37	3	46008705	46008705	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:46008705G>A	uc011bal.1	-	6	2233	c.2121C>T	c.(2119-2121)ggC>ggT	p.G707G	FYCO1_uc003cpb.4_Silent_p.G707G	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	Homo sapiens FYVE and coiled-coil domain containing 1 (FYCO1), mRNA.	707					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		GCTGACACTCGCCCTCCTTGC	0.612000												
DHTKD1	55526	broad.mit.edu	37	10	12136162	12136162	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:12136162G>A	uc001ild.4	+	6	1349	c.1250G>A	c.(1249-1251)cGc>cAc	p.R417H		NM_018706	NP_061176	Q96HY7	DHTK1_HUMAN	Homo sapiens dehydrogenase E1 and transketolase domain containing 1 (DHTKD1), nuclear gene encoding mitochondrial protein, mRNA.	417					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.R417C(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			GAATACCAACGCCAGTTCCGC	0.517000												
BRD3	8019	broad.mit.edu	37	9	136913403	136913403	+	Silent	SNP	G	G	A	rs141698176	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:136913403G>A	uc004cew.3	-	5	1076	c.888C>T	c.(886-888)ggC>ggT	p.G296G	BRD3_uc004cex.2_Silent_p.G296G	NM_007371	NP_031397	Q15059	BRD3_HUMAN	Homo sapiens bromodomain containing 3 (BRD3), mRNA.	296						nucleus	protein binding		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		GGGGCACCTCGCCGTCCTCCA	0.662000			T	C15orf55	lethal midline carcinoma of young people							
USP34	9736	broad.mit.edu	37	2	61447484	61447484	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:61447484G>A	uc002sbe.3	-	66	8030	c.8008C>T	c.(8008-8010)Cgg>Tgg	p.R2670W		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA.	2670					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			AAAAGAAACCGCTCGACCCAG	0.378000												
FNIP2	57600	broad.mit.edu	37	4	159789517	159789517	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:159789517G>A	uc003iqe.4	+	12	1912	c.1729G>A	c.(1729-1731)Gct>Act	p.A577T		NM_020840	NP_065891	Q9P278	FNIP2_HUMAN	Homo sapiens folliculin interacting protein 2 (FNIP2), mRNA.	577	Interaction with PRKAA1.				DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		GAACGAGCCCGCTCTTGTACC	0.542000												
SH2D2A	9047	broad.mit.edu	37	1	156779590	156779590	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:156779590G>C	uc009wsh.2	-	5	747	c.607C>G	c.(607-609)Cct>Gct	p.P203A	SH2D2A_uc001fqc.1_Missense_Mutation_p.P165A|SH2D2A_uc001fqd.2_Missense_Mutation_p.P193A|SH2D2A_uc001fqe.2_Missense_Mutation_p.P175A|SH2D2A_uc010phs.1_Missense_Mutation_p.P193A	NM_001161441	NP_001154913	Q9NP31	SH22A_HUMAN	Homo sapiens SH2 domain containing 2A (SH2D2A), transcript variant 1, mRNA.	193	Pro-rich.				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity	p.E202Q(1)|p.E202*(1)		endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGTCCTGCAGGCTCAGGAGTC	0.552000												
CSRNP1	64651	broad.mit.edu	37	3	39186606	39186606	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:39186606C>T	uc003cjg.3	-	2	561	c.347G>A	c.(346-348)cGc>cAc	p.R116H	CSRNP1_uc003cjh.3_Missense_Mutation_p.R116H	NM_033027	NP_149016	Q96S65	CSRN1_HUMAN	Homo sapiens cysteine-serine-rich nuclear protein 1 (CSRNP1), mRNA.	116					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						AGCACTGTGGCGAAGGGCCAT	0.607000												
CSF1R	1436	broad.mit.edu	37	5	149439266	149439266	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:149439266C>T	uc003lrl.3	-	13	2324	c.2129G>A	c.(2128-2130)cGc>cAc	p.R710H	CSF1R_uc011dcd.2_Intron|CSF1R_uc010jhc.3_Intron|CSF1R_uc003lrm.3_Missense_Mutation_p.R710H	NM_005211	NP_005202	P07333	CSF1R_HUMAN	Homo sapiens colony stimulating factor 1 receptor (CSF1R), mRNA.	710	Protein kinase.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity	p.R710H(3)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	GGGCTACCTGCGGACATATTT	0.587000												
TRIM25	7706	broad.mit.edu	37	17	54976496	54976496	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:54976496C>T	uc002iut.3	-	4	1193	c.1133G>A	c.(1132-1134)cGc>cAc	p.R378H	TRIM25_uc010dcj.3_Missense_Mutation_p.R170H	NM_005082	NP_005073	Q14258	TRI25_HUMAN	Homo sapiens tripartite motif containing 25 (TRIM25), mRNA.	378	Interaction with influenza A virus NS1.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					CTTCACAGGGCGTGTGGATTT	0.602000												
HIST1H1A	3024	broad.mit.edu	37	6	26017792	26017792	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:26017792G>A	uc003nfo.3	-	0	249	c.169C>T	c.(169-171)Cgt>Tgt	p.R57C	HIST1H3A_uc003nfp.1_5'Flank	NM_005325	NP_005316	Q02539	H11_HUMAN	Homo sapiens histone cluster 1, H1a (HIST1H1A), mRNA.	57	H15.				nucleosome assembly|spermatogenesis	nucleosome|nucleus	DNA binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|ovary(3)|prostate(1)	13						ACACCACCACGCTCCTTAGAG	0.572000												
SH3GLB2	56904	broad.mit.edu	37	9	131777084	131777084	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:131777084C>T	uc004bww.3	-	3	580	c.434G>A	c.(433-435)cGc>cAc	p.R145H	SH3GLB2_uc004bwv.3_Missense_Mutation_p.R145H	NM_020145	NP_064530	Q9NR46	SHLB2_HUMAN	Homo sapiens SH3-domain GRB2-like endophilin B2 (SH3GLB2), mRNA.	145	BAR.				filopodium assembly|signal transduction	cytoplasm|nucleus	SH3 domain binding|cytoskeletal adaptor activity			NS(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)	12						CAGGAAGTTGCGCAAGGGTGT	0.572000												
KLC4	89953	broad.mit.edu	37	6	43034106	43034106	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:43034106C>T	uc003otw.1	+	4	1007	c.688C>T	c.(688-690)Cgg>Tgg	p.R230W	KLC4_uc003otr.1_Non-coding_Transcript|KLC4_uc003otu.3_Missense_Mutation_p.R212W|KLC4_uc003otv.1_Missense_Mutation_p.R212W|KLC4_uc011dvd.1_Missense_Mutation_p.R135W|KLC4_uc003otx.1_Missense_Mutation_p.R212W|KLC4_uc003oty.1_Missense_Mutation_p.R212W|KLC4_uc003otz.1_Missense_Mutation_p.R212W	NM_201523	NP_958930	Q9NSK0	KLC4_HUMAN	Homo sapiens kinesin light chain 4 (KLC4), transcript variant 3, mRNA.	212						cytoplasm|kinesin complex|microtubule	microtubule motor activity|protein binding			endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23			all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)			AGCAAGGTTGCGGACGTTGCA	0.552000												
PDSS1	23590	broad.mit.edu	37	10	26998655	26998655	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:26998655C>T	uc001isv.3	+	4	471	c.425C>T	c.(424-426)gCg>gTg	p.A142V	PDSS1_uc001isw.3_Missense_Mutation_p.A142V	NM_014317	NP_055132	Q5T2R2	DPS1_HUMAN	Homo sapiens prenyl (decaprenyl) diphosphate synthase, subunit 1 (PDSS1), mRNA.	142				A -> V (in Ref. 1; AAD28559).	isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	metal ion binding|protein heterodimerization activity			autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1)	21						ATTATTGTGGCGCTAATGGCC	0.393000												
ACTB	60	broad.mit.edu	37	7	5568056	5568056	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:5568056C>T	uc003sot.4	-	3	742	c.658G>A	c.(658-660)Gcc>Acc	p.A220T	ACTB_uc003sor.4_Missense_Mutation_p.A98T|ACTB_uc003soq.4_Missense_Mutation_p.A98T	NM_001101	NP_001092	P60709	ACTB_HUMAN	Homo sapiens actin, beta (ACTB), mRNA.	220					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	MLL5-L complex|NuA4 histone acetyltransferase complex|cytoskeleton|cytosol|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		AAGTCCAGGGCGACGTAGCAC	0.587000												
MINA	84864	broad.mit.edu	37	3	97686148	97686148	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:97686148C>T	uc003drz.1	-	1	796	c.290G>A	c.(289-291)gGa>gAa	p.G97E	MINA_uc003dsa.1_Missense_Mutation_p.G97E|MINA_uc003dsb.1_Missense_Mutation_p.G97E|MINA_uc003dsc.1_Missense_Mutation_p.G97E|MINA_uc010hpa.1_Non-coding_Transcript|MINA_uc010hpb.1_Intron	NM_001042533	NP_694822	Q8IUF8	MINA_HUMAN	Homo sapiens MYC induced nuclear antigen (MINA), transcript variant 1, mRNA.	97					ribosome biogenesis	cytoplasm|nucleolus				breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)	13						CACATCTCTTCCATAGTACAT	0.453000												
FAM40B	57464	broad.mit.edu	37	7	129122851	129122851	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:129122851C>T	uc011koy.2	+	19	2258	c.2218C>T	c.(2218-2220)Cgt>Tgt	p.R740C	FAM40B_uc003vow.3_Missense_Mutation_p.R740C|FAM40B_uc011koz.2_Missense_Mutation_p.R232C	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN	Homo sapiens family with sequence similarity 40, member B (FAM40B), transcript variant 1, mRNA.	740								p.R740C(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CCAGAAAGTGCGTCACCGCAT	0.448000												
NR1H3	10062	broad.mit.edu	37	11	47282972	47282972	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:47282972G>A	uc009ylm.3	+	4	930	c.680G>A	c.(679-681)cGc>cAc	p.R227H	NR1H3_uc010rhk.2_Missense_Mutation_p.R233H|NR1H3_uc009yll.2_Missense_Mutation_p.R233H|NR1H3_uc001nek.3_Missense_Mutation_p.R182H|NR1H3_uc001nen.4_Missense_Mutation_p.R227H|NR1H3_uc001nem.3_Missense_Mutation_p.R227H	NM_005693	NP_005684	Q13133	NR1H3_HUMAN	Homo sapiens nuclear receptor subfamily 1, group H, member 3 (NR1H3), transcript variant 1, mRNA.	227	Ligand-binding (Potential).				apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding	p.R227L(2)|p.R226Q(1)|p.R226W(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						TGTAACCGGCGCTCCTTTTCT	0.617000												
KCNF1	3754	broad.mit.edu	37	2	11053818	11053818	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:11053818G>A	uc002rax.3	+	0	1756	c.1266G>A	c.(1264-1266)gcG>gcA	p.A422A		NM_002236	NP_002227	Q9H3M0	KCNF1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily F, member 1 (KCNF1), mRNA.	422						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		TGGAGACCGCGGCCAAGCACG	0.617000												
PRPF6	24148	broad.mit.edu	37	20	62657327	62657327	+	Silent	SNP	C	C	T	rs151332876	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:62657327C>T	uc002yho.3	+	14	2112	c.1944C>T	c.(1942-1944)gcC>gcT	p.A648A	PRPF6_uc002yhp.3_Intron	NM_012469	NP_036601	O94906	PRP6_HUMAN	Homo sapiens PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae) (PRPF6), mRNA.	648					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					GGCTGGCAGCCGTGAAGCTGG	0.647000												
FBN2	2201	broad.mit.edu	37	5	127668686	127668686	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:127668686C>T	uc003kuu.3	-	31	4579	c.4140G>A	c.(4138-4140)atG>atA	p.M1380I	FBN2_uc003kuv.2_Missense_Mutation_p.M1347I	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	1380	EGF-like 22; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ATGAGGCATGCATGTCGCAGT	0.383000												
SLC12A5	57468	broad.mit.edu	37	20	44680471	44680471	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:44680471G>A	uc010zxl.1	+	17	2484	c.2408G>A	c.(2407-2409)cGc>cAc	p.R803H	SLC12A5_uc002xrb.2_Missense_Mutation_p.R780H	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	803					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)	CGCAACTGGCGCCAGAAGGAA	0.617000												
VPS53	55275	broad.mit.edu	37	17	526892	526892	+	Missense_Mutation	SNP	G	G	A	rs145041715		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:526892G>A	uc010cjo.2	-	10	1144	c.997C>T	c.(997-999)Cgt>Tgt	p.R333C	VPS53_uc002frk.3_5'UTR|VPS53_uc002frl.2_Non-coding_Transcript|VPS53_uc002frm.2_Missense_Mutation_p.R304C|VPS53_uc002frn.2_Missense_Mutation_p.R333C|VPS53_uc002fro.2_Missense_Mutation_p.R135C|VPS53_uc010cjp.1_Intron	NM_001128159	NP_001121631	Q5VIR6	VPS53_HUMAN	Homo sapiens vacuolar protein sorting 53 homolog (S. cerevisiae) (VPS53), transcript variant 1, mRNA.	333					protein transport	Golgi apparatus|endosome membrane				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		GCTCTGGTACGCATAATCTTG	0.393000												
DGKB	1607	broad.mit.edu	37	7	14653016	14653016	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:14653016T>A	uc003ssz.3	-	14	1497	c.1310A>T	c.(1309-1311)cAc>cTc	p.H437L	DGKB_uc011jxt.2_Missense_Mutation_p.H418L|DGKB_uc003sta.3_Missense_Mutation_p.H437L|DGKB_uc011jxu.2_Missense_Mutation_p.H436L	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	Homo sapiens diacylglycerol kinase, beta 90kDa (DGKB), transcript variant 1, mRNA.	437	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	TAAAAGTGGGTGAGTACCAGG	0.323000												
TCF20	6942	broad.mit.edu	37	22	42610103	42610103	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:42610103C>T	uc003bcj.1	-	0	1343	c.1209G>A	c.(1207-1209)gtG>gtA	p.V403V	TCF20_uc003bck.1_Silent_p.V403V	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA.	403					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						AACCCATAGGCACACTGCCTT	0.502000												
MYBPC3	4607	broad.mit.edu	37	11	47367812	47367812	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:47367812G>A	uc021qis.1	-	11	1091	c.1036C>T	c.(1036-1038)Cgc>Tgc	p.R346C	MYBPC3_uc021qir.1_5'UTR	NM_000256	NP_000247	Q14896	MYPC3_HUMAN	Homo sapiens myosin binding protein C, cardiac (MYBPC3), mRNA.	346					cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	ATPase activator activity|actin binding|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		AGCATGCCGCGCAGGTCAGTG	0.622000												
INTS6	26512	broad.mit.edu	37	13	51953678	51953678	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:51953678C>T	uc001vfk.3	-	10	1920	c.1306G>A	c.(1306-1308)Gca>Aca	p.A436T	INTS6_uc001vfi.3_Missense_Mutation_p.A120T|INTS6_uc001vfj.3_Missense_Mutation_p.A423T|INTS6_uc001vfl.3_Missense_Mutation_p.A258T	NM_012141	NP_001035026	Q9UL03	INT6_HUMAN	Homo sapiens integrator complex subunit 6 (INTS6), transcript variant 1, mRNA.	436					snRNA processing	actin cytoskeleton|integrator complex	protein binding|transmembrane receptor activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		AGGTTAGGTGCTCCCATCATC	0.338000												
MUS81	80198	broad.mit.edu	37	11	65633355	65633355	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:65633355C>T	uc001ofv.4	+	14	1932	c.1579C>T	c.(1579-1581)Cgt>Tgt	p.R527C	MUS81_uc001ofx.4_Missense_Mutation_p.R84C	NM_025128	NP_079404	Q96NY9	MUS81_HUMAN	Homo sapiens MUS81 endonuclease homolog (S. cerevisiae) (MUS81), mRNA.	527					DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding	p.G526W(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		TAAGTGTGGGCGTCTACAGAG	0.627000								Homologous recombination				
ATG2B	55102	broad.mit.edu	37	14	96756089	96756089	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:96756089C>T	uc001yfi.3	-	40	6275	c.5910G>A	c.(5908-5910)gaG>gaA	p.E1970E		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog B (S. cerevisiae) (ATG2B), mRNA.	1970										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TCTTCTTGGGCTCGATAGAAA	0.473000												
NCKAP5	344148	broad.mit.edu	37	2	134060653	134060653	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:134060653C>A	uc002ttp.3	-	3	473	c.99G>T	c.(97-99)gaG>gaT	p.E33D	NCKAP5_uc002ttq.3_Missense_Mutation_p.E33D|NCKAP5_uc002ttt.1_Missense_Mutation_p.E33D|NCKAP5_uc002tts.1_Missense_Mutation_p.E8D	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	33							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TCAGCAGATGCTCAATGTATT	0.438000												
MAN2A2	4122	broad.mit.edu	37	15	91461902	91461902	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:91461902G>A	uc010bnz.2	+	21	3332	c.3217G>A	c.(3217-3219)Gca>Aca	p.A1073T	MAN2A2_uc002bqc.3_Missense_Mutation_p.A1073T|MAN2A2_uc010uql.2_Missense_Mutation_p.A735T|MAN2A2_uc010uqm.2_Missense_Mutation_p.A652T|MAN2A2_uc010uqn.1_Non-coding_Transcript	NM_006122	NP_006113	P49641	MA2A2_HUMAN	Homo sapiens mannosidase, alpha, class 2A, member 2 (MAN2A2), mRNA.	1073					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GGCGGAGACCGCACTCATCTT	0.607000												
TRIM42	287015	broad.mit.edu	37	3	140401502	140401502	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:140401502C>T	uc003eto.2	+	1	746	c.540C>T	c.(538-540)acC>acT	p.T180T		NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN	Homo sapiens tripartite motif containing 42 (TRIM42), mRNA.	180						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CCGAGGTCACCGAGAACTTCT	0.622000												
POPDC2	64091	broad.mit.edu	37	3	119379244	119379244	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:119379244G>A	uc003ecx.1	-	0	161	c.27C>T	c.(25-27)ggC>ggT	p.G9G	POPDC2_uc010hqw.1_Silent_p.G9G|POPDC2_uc003ecy.1_Intron	NM_022135	NP_071418	Q9HBU9	POPD2_HUMAN	Homo sapiens popeye domain containing 2 (POPDC2), mRNA.	9						integral to membrane				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.242)		AGAGAAGCTGGCCCACTCTGC	0.527000												
RGS10	6001	broad.mit.edu	37	10	121286870	121286870	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:121286870G>A	uc001lee.3	-	0	92	c.92C>T	c.(91-93)gCg>gTg	p.A31V	RGS10_uc001lef.3_Missense_Mutation_p.A25V|RGS10_uc001leg.3_Missense_Mutation_p.A39V	NM_002925	NP_002916	O43665	RGS10_HUMAN	Homo sapiens regulator of G-protein signaling 10 (RGS10), transcript variant 2, mRNA.	31					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			breast(2)|large_intestine(1)|lung(3)	6		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00105)|GBM - Glioblastoma multiforme(135;0.195)		CAGGGATGCCGCCCATTTGGC	0.512000												
QRFPR	84109	broad.mit.edu	37	4	122257980	122257980	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:122257980C>T	uc010inj.1	-	2	922	c.543G>A	c.(541-543)tgG>tgA	p.W181*	QRFPR_uc010ink.1_Non-coding_Transcript|QRFPR_uc003ids.2_Nonsense_Mutation_p.W181*	NM_198179	NP_937822	Q96P65	QRFPR_HUMAN	Homo sapiens pyroglutamylated RFamide peptide receptor (QRFPR), mRNA.	181						plasma membrane	neuropeptide Y receptor activity	p.W181R(1)		endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						GTTGCACGTGCCACATGGGTG	0.418000												
OPN4	94233	broad.mit.edu	37	10	88416037	88416037	+	Silent	SNP	G	G	A	rs150600156		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:88416037G>A	uc010qmk.1	+	1	497	c.270G>A	c.(268-270)acG>acA	p.T90T	OPN4_uc001kdp.3_Silent_p.T90T|OPN4_uc001kdq.3_Silent_p.T90T	NM_001030015	NP_001025186	Q9UHM6	OPN4_HUMAN	Homo sapiens opsin 4 (OPN4), transcript variant 2, mRNA.	90					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						GCAACCTGACGGTCATCTATA	0.602000												
PKN3	29941	broad.mit.edu	37	9	131476578	131476578	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:131476578G>C	uc004bvw.3	+	10	1808	c.1415G>C	c.(1414-1416)aGc>aCc	p.S472T	PKN3_uc010myh.3_Missense_Mutation_p.S472T|PKN3_uc022bom.1_Non-coding_Transcript	NM_013355	NP_037487	Q6P5Z2	PKN3_HUMAN	Homo sapiens protein kinase N3 (PKN3), mRNA.	472	Pro-rich.				signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						AGCACAATCAGCCCCCCTAAA	0.652000												
KIF2B	84643	broad.mit.edu	37	17	51901021	51901021	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:51901021G>A	uc002iua.2	+	0	783	c.627G>A	c.(625-627)ccG>ccA	p.P209P	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	209					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.P209L(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TGGAGCCCCCGCAAGAACATC	0.537000												
LIMCH1	22998	broad.mit.edu	37	4	41668613	41668613	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:41668613G>A	uc003gvz.4	+	20	3744	c.3327G>A	c.(3325-3327)acG>acA	p.T1109T	LIMCH1_uc003gwe.4_Intron|LIMCH1_uc003gvu.4_Silent_p.T724T|LIMCH1_uc003gvv.4_Silent_p.T724T|LIMCH1_uc003gvw.4_Silent_p.T724T|LIMCH1_uc003gvx.4_Silent_p.T712T|LIMCH1_uc003gvy.4_Silent_p.T553T|LIMCH1_uc003gwa.4_Silent_p.T565T|LIMCH1_uc011byu.2_Silent_p.T558T|LIMCH1_uc003gwc.4_Silent_p.T570T|LIMCH1_uc003gwd.4_Silent_p.T558T|LIMCH1_uc011byv.2_Silent_p.T475T|LIMCH1_uc011byw.2_Silent_p.T24T	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA.	724					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						CCGAAGCAACGCTGACATTTC	0.403000												
CHST8	64377	broad.mit.edu	37	19	34263263	34263263	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:34263263C>T	uc002nus.4	+	4	1075	c.570C>T	c.(568-570)caC>caT	p.H190H	CHST8_uc002nut.4_Silent_p.H190H|CHST8_uc002nuu.3_Silent_p.H190H	NM_001127895	NP_071912	Q9H2A9	CHST8_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 (CHST8), transcript variant 2, mRNA.	190					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					AGGACCGCCACCGCGTGCTCT	0.701000												
SF3B4	10262	broad.mit.edu	37	1	149898418	149898418	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:149898418G>A	uc001etk.2	-	2	1049	c.556C>T	c.(556-558)Cgc>Tgc	p.R186C	SF3B4_uc009wll.1_Missense_Mutation_p.R186C	NM_005850	NP_005841	Q15427	SF3B4_HUMAN	Homo sapiens splicing factor 3b, subunit 4, 49kDa (SF3B4), mRNA.	186						U12-type spliceosomal complex|nucleoplasm	RNA binding|nucleotide binding|protein binding			endometrium(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)	17	Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			GAGCCATGGCGCTCACCCTTG	0.557000												
ADAMTSL1	92949	broad.mit.edu	37	9	18706803	18706803	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:18706803C>T	uc003zne.4	+	13	1785	c.1633C>T	c.(1633-1635)Cga>Tga	p.R545*		NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	545	TSP type-1 4.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GACCCAGGTGCGAATAGTCAG	0.607000												
FZD3	7976	broad.mit.edu	37	8	28385354	28385354	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:28385354C>T	uc003xgx.3	+	4	1606	c.1077C>T	c.(1075-1077)ggC>ggT	p.G359G	FZD3_uc010lvb.3_Silent_p.G359G	NM_017412	NP_665873	Q9NPG1	FZD3_HUMAN	Homo sapiens frizzled family receptor 3 (FZD3), transcript variant 1, mRNA.	359					G-protein signaling, coupled to cGMP nucleotide second messenger|canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		ATATTAGTGGCGTGTGTTTTG	0.453000												
LRRC19	64922	broad.mit.edu	37	9	26997741	26997741	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:26997741A>T	uc003zqh.3	-	2	691	c.580T>A	c.(580-582)Tca>Aca	p.S194T	IFT74_uc010mja.3_Intron|IFT74_uc010mjb.3_Intron|IFT74_uc003zqf.4_Intron|IFT74_uc003zqg.4_Intron	NM_022901	NP_075052	Q9H756	LRC19_HUMAN	Homo sapiens leucine rich repeat containing 19 (LRRC19), mRNA.	194	LRRCT.					integral to membrane				breast(1)|endometrium(2)|kidney(1)|lung(2)	6		all_neural(11;1.81e-09)		Lung(218;1.06e-05)|LUSC - Lung squamous cell carcinoma(38;0.0001)		GTCACATTTGATGTGTTCAAC	0.333000												
OGG1	4968	broad.mit.edu	37	3	9792752	9792752	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:9792752G>A	uc003bsi.3	+	1	604	c.261G>A	c.(259-261)agG>agA	p.R87R	OGG1_uc003bsj.3_Silent_p.R87R|OGG1_uc003bsh.3_Silent_p.R87R|OGG1_uc003bsl.3_Silent_p.R87R|OGG1_uc003bsk.3_Silent_p.R87R|OGG1_uc003bsm.3_Silent_p.R87R|OGG1_uc003bsn.3_Silent_p.R87R|OGG1_uc003bso.3_Silent_p.R87R|OGG1_uc003bsr.2_5'Flank|OGG1_uc010hcm.2_5'Flank|OGG1_uc003bsq.2_5'Flank|OGG1_uc003bsp.2_5'Flank	NM_002542	NP_002533	O15527	OGG1_HUMAN	Homo sapiens 8-oxoguanine DNA glycosylase (OGG1), nuclear gene encoding mitochondrial protein, transcript variant 1a, mRNA.	87					depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation	mitochondrion|nuclear matrix|nuclear speck	damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding	p.R87K(1)		kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8	Medulloblastoma(99;0.227)					AGGCTAGCAGGCCCACACCAG	0.572000								Base excision repair (BER), DNA glycosylases				
ACTR5	79913	broad.mit.edu	37	20	37380797	37380797	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:37380797G>A	uc002xjd.2	+	2	654	c.629G>A	c.(628-630)cGc>cAc	p.R210H		NM_024855	NP_079131	Q9H9F9	ARP5_HUMAN	Homo sapiens ARP5 actin-related protein 5 homolog (yeast) (ACTR5), mRNA.	210					DNA recombination|UV-damage excision repair|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|cytoplasm	ATP binding|protein binding			kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				AACTGCAAGCGCATCAATCTT	0.493000												
AFF1	4299	broad.mit.edu	37	4	88036259	88036259	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:88036259G>A	uc011ccz.2	+	11	2549	c.2274G>A	c.(2272-2274)ccG>ccA	p.P758P	AFF1_uc003hqj.4_Silent_p.P751P|AFF1_uc003hqk.4_Silent_p.P751P|AFF1_uc011cda.2_Silent_p.P389P	NM_001166693	NP_001160165	P51825	AFF1_HUMAN	Homo sapiens AF4/FMR2 family, member 1 (AFF1), transcript variant 1, mRNA.	751						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		TGCTCTCACCGCTCAGGGACA	0.617000												
SCAPER	49855	broad.mit.edu	37	15	76696913	76696913	+	Missense_Mutation	SNP	G	G	A	rs149493455	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:76696913G>A	uc002bby.3	-	25	3478	c.3419C>T	c.(3418-3420)gCa>gTa	p.A1140V	SCAPER_uc010bkr.3_Missense_Mutation_p.A448V|SCAPER_uc002bbx.3_Missense_Mutation_p.A894V|SCAPER_uc002bbz.1_Missense_Mutation_p.A1011V	NM_020843	NP_065894	Q9BY12	SCAPE_HUMAN	Homo sapiens S-phase cyclin A-associated protein in the ER (SCAPER), transcript variant 1, mRNA.	1139						endoplasmic reticulum|nucleus	zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						TAAGAGTCCTGCGGCATGCTG	0.478000												
RNF220	55182	broad.mit.edu	37	1	44877906	44877906	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:44877906G>A	uc001clv.1	+	1	497	c.137G>A	c.(136-138)cGa>cAa	p.R46Q	RNF220_uc001clw.1_Missense_Mutation_p.R46Q	NM_018150	NP_060620	Q5VTB9	RN220_HUMAN	Homo sapiens ring finger protein 220 (RNF220), mRNA.	46					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	p.R46P(3)		endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						CAGCAGCCACGACCCTTTGGT	0.557000												
JMJD1C	221037	broad.mit.edu	37	10	64979728	64979728	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:64979728G>A	uc001jmn.3	-	3	763	c.463C>T	c.(463-465)Cta>Tta	p.L155L	JMJD1C_uc001jml.3_Intron|JMJD1C_uc001jmm.3_5'UTR|JMJD1C_uc010qiq.2_5'UTR|JMJD1C_uc009xpi.3_5'UTR|JMJD1C_uc009xpj.2_Intron|JMJD1C_uc001jmp.1_Intron	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA.	155					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					ACTGGGTTTAGGCTGTCTATG	0.413000												
C14orf102	55051	broad.mit.edu	37	14	90755095	90755095	+	Missense_Mutation	SNP	C	C	T	rs142600051		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:90755095C>T	uc001xyi.2	-	10	2857	c.2624G>A	c.(2623-2625)cGa>cAa	p.R875Q	C14orf102_uc010atp.1_Missense_Mutation_p.R380Q|C14orf102_uc001xyj.2_Missense_Mutation_p.R644Q	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN	Homo sapiens chromosome 14 open reading frame 102 (C14orf102), mRNA.	875							protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(10)|lung(12)|ovary(5)|prostate(2)|upper_aerodigestive_tract(1)	39		all_cancers(154;0.118)		COAD - Colon adenocarcinoma(157;0.218)		ATAAGCCTTTCGCGCTTTCAA	0.532000												
ESAM	90952	broad.mit.edu	37	11	124623849	124623849	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:124623849G>A	uc001qav.4	-	6	1039	c.866C>T	c.(865-867)gCc>gTc	p.A289V	VSIG2_uc001qas.3_5'Flank|VSIG2_uc001qat.3_5'Flank|ESAM_uc010sao.2_Intron|ESAM_uc001qau.4_Missense_Mutation_p.A216V|ESAM_uc001qaw.4_Non-coding_Transcript|ESAM_uc001qax.4_Non-coding_Transcript	NM_138961	NP_620411	Q96AP7	ESAM_HUMAN	Homo sapiens endothelial cell adhesion molecule (ESAM), mRNA.	289					blood coagulation|leukocyte migration	adherens junction|integral to membrane|tight junction				endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022)		GGGAGCAATGGCATCCTCCCT	0.562000												
HOXD3	3232	broad.mit.edu	37	2	177036882	177036882	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:177036882G>A	uc002ukt.1	+	2	1355	c.1179G>A	c.(1177-1179)gcG>gcA	p.A393A		NM_006898	NP_008829	P31249	HXD3_HUMAN	Homo sapiens homeobox D3 (HOXD3), mRNA.	393					Notch signaling pathway|anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		GTTGCGCCGCGCAGATTCCAG	0.657000												
CKAP2L	150468	broad.mit.edu	37	2	113510001	113510001	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:113510001G>T	uc002tie.2	-	4	1524	c.1445C>A	c.(1444-1446)cCt>cAt	p.P482H	CKAP2L_uc002tif.2_Missense_Mutation_p.P71H|CKAP2L_uc010yxp.1_Missense_Mutation_p.P317H|CKAP2L_uc010yxq.1_Missense_Mutation_p.P317H	NM_152515	NP_689728	Q8IYA6	CKP2L_HUMAN	Homo sapiens cytoskeleton associated protein 2-like (CKAP2L), mRNA.	482						centrosome				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						TTCCATAGGAGGCCGTTTATA	0.313000												
PLCB1	23236	broad.mit.edu	37	20	8626776	8626776	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:8626776G>A	uc002wnb.3	+	4	415	c.412G>A	c.(412-414)Gca>Aca	p.A138T	PLCB1_uc010zrb.1_Missense_Mutation_p.A37T|PLCB1_uc010gbv.1_Missense_Mutation_p.A138T|PLCB1_uc002wmz.1_Missense_Mutation_p.A138T|PLCB1_uc002wna.3_Missense_Mutation_p.A138T|PLCB1_uc002wnc.1_Missense_Mutation_p.A37T	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	138					CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TTTCAGTTTGGCAACAAACCT	0.398000												
TEAD2	8463	broad.mit.edu	37	19	49846621	49846621	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:49846621G>A	uc002pnh.3	-	10	1062	c.956C>T	c.(955-957)gCa>gTa	p.A319V	TEAD2_uc002png.3_Missense_Mutation_p.A318V|TEAD2_uc002pni.3_Missense_Mutation_p.A318V|TEAD2_uc002pnj.3_Missense_Mutation_p.A315V|TEAD2_uc010yao.2_Missense_Mutation_p.A187V|TEAD2_uc010emw.3_Missense_Mutation_p.A318V	NM_003598	NP_003589	Q15562	TEAD2_HUMAN	Homo sapiens TEA domain family member 2 (TEAD2), mRNA.	315	Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.G318S(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		ACCGGCCCCTGCCTCCTCACC	0.597000												
CHRNA4	1137	broad.mit.edu	37	20	61981756	61981756	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:61981756C>T	uc002yes.2	-	4	1185	c.1007G>A	c.(1006-1008)cGc>cAc	p.R336H	CHRNA4_uc002yet.1_Missense_Mutation_p.R160H|CHRNA4_uc010gke.1_Missense_Mutation_p.R265H|CHRNA4_uc002yev.1_Missense_Mutation_p.R160H|CHRNA4_uc010gkf.1_Missense_Mutation_p.R160H	NM_000744	NP_000735	P43681	ACHA4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 4 (CHRNA4), mRNA.	336					B cell activation|DNA repair|behavioral response to nicotine|calcium ion transport|cognition|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.R336H(2)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	GGTGTGCGTGCGTGGCGAGCG	0.612000												
KIAA0240	23506	broad.mit.edu	37	6	42796383	42796383	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:42796383C>T	uc003osn.1	+	5	463	c.312C>T	c.(310-312)gaC>gaT	p.D104D	KIAA0240_uc003osm.1_Silent_p.D104D|KIAA0240_uc011duw.1_Silent_p.D104D|KIAA0240_uc003oso.1_Silent_p.D104D|KIAA0240_uc003osp.1_Silent_p.D104D	NM_015349	NP_056164	Q6AI39	K0240_HUMAN	Homo sapiens KIAA0240 (KIAA0240), mRNA.	104										NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(3)|skin(3)	44	Colorectal(47;0.196)		Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104)			AACCTTTCGACATTCTTCAGA	0.468000												
LZTS1	11178	broad.mit.edu	37	8	20107710	20107710	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:20107710G>A	uc003wzr.3	-	2	1425	c.1314C>T	c.(1312-1314)ggC>ggT	p.G438G	LZTS1_uc010ltg.2_Silent_p.G438G	NM_021020	NP_066300	Q9Y250	LZTS1_HUMAN	Homo sapiens leucine zipper, putative tumor suppressor 1 (LZTS1), mRNA.	438					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	Golgi apparatus|cell junction|dendritic spine|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		TGCGCAGGGCGCCCTCCAGGT	0.647000												
PHKA2	5256	broad.mit.edu	37	X	18927018	18927018	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:18927018T>C	uc004cyv.4	-	20	2691	c.2261A>G	c.(2260-2262)gAc>gGc	p.D754G		NM_000292	NP_000283	P46019	KPB2_HUMAN	Homo sapiens phosphorylase kinase, alpha 2 (liver) (PHKA2), mRNA.	754					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					GTCACCATGGTCATCTCTGGG	0.463000												
CSMD3	114788	broad.mit.edu	37	8	113966981	113966981	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:113966981G>A	uc003ynu.3	-	7	1511	c.1352C>T	c.(1351-1353)gCc>gTc	p.A451V	CSMD3_uc003ynt.3_Missense_Mutation_p.A411V|CSMD3_uc011lhx.2_Missense_Mutation_p.A347V	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	451						integral to membrane|plasma membrane		p.K450R(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAAATCTATGGCCTTTTTCAC	0.289000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)		
C15orf2	23742	broad.mit.edu	37	15	24922492	24922492	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:24922492T>A	uc001ywo.3	+	0	1952	c.1478T>A	c.(1477-1479)cTc>cAc	p.L493H		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	493	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis			p.L493L(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		GCAGCGCCTCTCACTTCTGAC	0.527000												
PRAMEF1	65121	broad.mit.edu	37	1	12854205	12854205	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:12854205G>A	uc001auj.2	+	2	532	c.429G>A	c.(427-429)gaG>gaA	p.E143E		NM_023013	NP_075389	O95521	PRAM1_HUMAN	Homo sapiens PRAME family member 1 (PRAMEF1), mRNA.	143										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	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;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGATGGGAGAGCACCAGCCCT	0.537000												
EDEM3	80267	broad.mit.edu	37	1	184671996	184671996	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:184671996G>A	uc010pom.2	-	18	2599	c.2338C>T	c.(2338-2340)Cgg>Tgg	p.R780W	EDEM3_uc010pok.2_Missense_Mutation_p.R780W|EDEM3_uc010pol.2_Non-coding_Transcript	NM_025191	NP_079467	Q9BZQ6	EDEM3_HUMAN	Homo sapiens ER degradation enhancer, mannosidase alpha-like 3 (EDEM3), mRNA.	780					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TCATATTCCCGGATGGCATCC	0.393000												
ZNF532	55205	broad.mit.edu	37	18	56587202	56587202	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:56587202G>A	uc010xeg.2	+	2	1880	c.1683G>A	c.(1681-1683)tcG>tcA	p.S561S	ZNF532_uc002lhp.3_Silent_p.S559S|ZNF532_uc002lho.3_Silent_p.S561S|ZNF532_uc002lhr.3_Silent_p.S559S|ZNF532_uc002lhs.3_Silent_p.S559S	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	Homo sapiens zinc finger protein 532 (ZNF532), mRNA.	561					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						CAGCAGCCTCGCAACCCCCCA	0.532000												
RAET1L	154064	broad.mit.edu	37	6	150342136	150342136	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:150342136G>A	uc011eei.2	-	2	597	c.536C>T	c.(535-537)gCc>gTc	p.A179V		NM_130900	NP_570970	Q5VY80	RET1L_HUMAN	Homo sapiens retinoic acid early transcript 1L (RAET1L), mRNA.	179	MHC class I alpha-2 like (By similarity).				antigen processing and presentation|immune response	MHC class I protein complex|anchored to membrane				endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.4e-12)		GAAGGACATGGCCACATCCTT	0.493000												
APRT	353	broad.mit.edu	37	16	88876190	88876190	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:88876190G>A	uc002flv.3	-	4	494	c.459C>T	c.(457-459)tgC>tgT	p.C153C	APRT_uc002flw.3_Intron	NM_000485	NP_000476	P07741	APT_HUMAN	Homo sapiens adenine phosphoribosyltransferase (APRT), transcript variant 1, mRNA.	153			C -> R (in APRTD).		purine ribonucleoside salvage	cytosol|nucleus	AMP binding|adenine phosphoribosyltransferase activity|protein binding			cervix(1)|endometrium(1)|liver(1)	3				BRCA - Breast invasive adenocarcinoma(80;0.0477)	Adenine(DB00173)|Adenosine monophosphate(DB00131)	CCAGGCTCACGCACTCCAGGA	0.637000												
ADAM23	8745	broad.mit.edu	37	2	207406814	207406814	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:207406814C>T	uc002vbq.3	+	4	835	c.612C>T	c.(610-612)ggC>ggT	p.G204G	ADAM23_uc010ziv.2_Non-coding_Transcript	NM_003812	NP_003803	O75077	ADA23_HUMAN	Homo sapiens ADAM metallopeptidase domain 23 (ADAM23), mRNA.	204					cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.R203G(1)		NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		GCATCAGAGGCGTCAAAGACT	0.423000												
RALGAPA1	253959	broad.mit.edu	37	14	36133925	36133925	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:36133925G>A	uc001wtj.3	-	25	4124	c.3733C>T	c.(3733-3735)Ccc>Tcc	p.P1245S	RALGAPA1_uc010amp.3_Non-coding_Transcript|RALGAPA1_uc001wti.3_Missense_Mutation_p.P1245S|RALGAPA1_uc010tpv.2_Missense_Mutation_p.P1258S|RALGAPA1_uc010tpw.1_Missense_Mutation_p.P1292S	NM_194301	NP_919277	Q6GYQ0	RGPA1_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 1 (catalytic) (RALGAPA1), transcript variant 2, mRNA.	1245					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	Ral GTPase activator activity|protein heterodimerization activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TATAAGTTGGGAAAGCAAACC	0.338000												
DSP	1832	broad.mit.edu	37	6	7583315	7583315	+	Silent	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:7583315T>C	uc003mxp.1	+	23	6099	c.5820T>C	c.(5818-5820)gaT>gaC	p.D1940D	DSP_uc003mxq.1_Silent_p.D1341D|DSP_uc021yle.1_Silent_p.D1497D	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1940	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GGGAGATTGATAAACTCAGAC	0.517000												
SLC27A2	11001	broad.mit.edu	37	15	50494717	50494717	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:50494717G>A	uc001zxw.3	+	2	954	c.722G>A	c.(721-723)cGc>cAc	p.R241H	SLC27A2_uc010bes.3_Intron|SLC27A2_uc001zxx.3_Missense_Mutation_p.R6H	NM_003645	NP_003636	O14975	S27A2_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 2 (SLC27A2), transcript variant 1, mRNA.	241					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		ACTCATCAGCGCATATGGTAT	0.428000												
PPP2R5C	5527	broad.mit.edu	37	14	102349641	102349641	+	Silent	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:102349641A>G	uc001yko.3	+	3	593	c.453A>G	c.(451-453)caA>caG	p.Q151Q	PPP2R5C_uc010txr.2_Silent_p.Q182Q|PPP2R5C_uc001ykk.3_Silent_p.Q206Q|PPP2R5C_uc010txt.2_Silent_p.Q141Q|PPP2R5C_uc001ykn.3_Silent_p.Q151Q|PPP2R5C_uc001ykp.3_Silent_p.Q151Q|PPP2R5C_uc001ykq.3_Silent_p.Q49Q	NM_002719	NP_002710	Q13362	2A5G_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B', gamma (PPP2R5C), transcript variant 1, mRNA.	151					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CAGATTTCCAACCTAATATAG	0.343000												
PTPRC	5788	broad.mit.edu	37	1	198703517	198703517	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:198703517T>C	uc001gur.1	+	21	2414	c.2234T>C	c.(2233-2235)gTt>gCt	p.V745A	PTPRC_uc001gut.1_Missense_Mutation_p.V584A|PTPRC_uc021pgy.1_Missense_Mutation_p.V699A|PTPRC_uc010ppg.1_Missense_Mutation_p.V681A	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	745	Tyrosine-protein phosphatase 1.				B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AAAGCCACAGTTATTGTCATG	0.408000												
NOTCH1	4851	broad.mit.edu	37	9	139391176	139391176	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:139391176C>T	uc004chz.3	-	33	7015	c.7015G>A	c.(7015-7017)Gcc>Acc	p.A2339T		NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	2339					Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGGGAGGGGGCCTGTGTGCTC	0.667000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)		
KCNH6	81033	broad.mit.edu	37	17	61611628	61611628	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:61611628G>A	uc002jay.3	+	4	1137	c.1057G>A	c.(1057-1059)Gcc>Acc	p.A353T	KCNH6_uc002jax.1_Missense_Mutation_p.A353T|KCNH6_uc010wpl.2_Missense_Mutation_p.A230T|KCNH6_uc010wpm.2_Missense_Mutation_p.A353T|KCNH6_uc002jaz.1_Missense_Mutation_p.A353T	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA.	353					regulation of transcription, DNA-dependent|signal transduction			p.A353T(2)|p.A352T(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	CATGGTGGCCGCCATCCCTTT	0.622000												
TSPAN15	23555	broad.mit.edu	37	10	71265925	71265925	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:71265925G>A	uc001jpo.1	+	6	789	c.664G>A	c.(664-666)Gcc>Acc	p.A222T		NM_012339	NP_036471	O95858	TSN15_HUMAN	Homo sapiens tetraspanin 15 (TSPAN15), mRNA.	222						integral to plasma membrane|membrane fraction				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	9						CTGCACCAACGCCGTGATCAT	0.612000												
ANKRD13C	81573	broad.mit.edu	37	1	70766510	70766510	+	Silent	SNP	C	C	T	rs138861589		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:70766510C>T	uc001dex.4	-	6	1184	c.858G>A	c.(856-858)gcG>gcA	p.A286A	ANKRD13C_uc009wbk.3_Silent_p.A251A	NM_030816	NP_110443	Q8N6S4	AN13C_HUMAN	Homo sapiens ankyrin repeat domain 13C (ANKRD13C), mRNA.	286					protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						ATTCAGAGGGCGCCGCATCCC	0.393000												
TSPAN11	441631	broad.mit.edu	37	12	31116918	31116918	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:31116918C>T	uc010sju.2	+	2	622	c.242C>T	c.(241-243)gCc>gTc	p.A81V	TSPAN11_uc001rjp.3_Missense_Mutation_p.A81V|TSPAN11_uc010sjv.2_Missense_Mutation_p.A71V	NM_001080509	NP_001073978	A1L157	TSN11_HUMAN	Homo sapiens tetraspanin 11 (TSPAN11), mRNA.	81						integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)	11	all_lung(12;3.11e-10)|Lung NSC(12;5.24e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GGCTTCGGTGCCATCCTCTGG	0.642000												
RPGRIP1L	23322	broad.mit.edu	37	16	53675004	53675004	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:53675004G>A	uc002ehp.3	-	18	2963	c.2899C>T	c.(2899-2901)Cgt>Tgt	p.R967C	RPGRIP1L_uc002eho.4_Missense_Mutation_p.R967C|RPGRIP1L_uc010vgy.2_Missense_Mutation_p.R967C|RPGRIP1L_uc010cbx.3_Missense_Mutation_p.R967C|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.R967C	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	Homo sapiens RPGRIP1-like (RPGRIP1L), transcript variant 1, mRNA.	967					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				GGTGTTAAACGTTGTCTTGGT	0.353000												
DSCAML1	57453	broad.mit.edu	37	11	117332302	117332302	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:117332302C>A	uc001prh.1	-	17	3458	c.3456G>T	c.(3454-3456)caG>caT	p.Q1152H		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	1092	Fibronectin type-III 3.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TCTCAGGGGGCTGGCTGGGCA	0.627000												
HEY2	23493	broad.mit.edu	37	6	126080924	126080924	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:126080924G>T	uc003qad.3	+	4	1181	c.990G>T	c.(988-990)tgG>tgT	p.W330C	HEY2_uc011ebr.2_Missense_Mutation_p.W284C	NM_012259	NP_036391	Q9UBP5	HEY2_HUMAN	Homo sapiens hairy/enhancer-of-split related with YRPW motif 2 (HEY2), mRNA.	330					Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	RNA polymerase II activating transcription factor binding|histone deacetylase binding|sequence-specific DNA binding	p.W330C(2)		breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		ACCGACCCTGGGGGACAGAAG	0.493000												
TTN	7273	broad.mit.edu	37	2	179582535	179582535	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:179582535G>A	uc021vsy.1	-	83	21559	c.21334C>T	c.(21334-21336)Cgc>Tgc	p.R7112C	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R3773C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8039	Ig-like 53.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R7112G(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)			GGAAGTTTGCGCGCTGTAAAG	0.378000												
TG	7038	broad.mit.edu	37	8	133961096	133961096	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:133961096A>G	uc003ytw.3	+	26	5350	c.5309A>G	c.(5308-5310)gAa>gGa	p.E1770G	TG_uc010mdw.3_Missense_Mutation_p.E529G|TG_uc011ljb.2_Missense_Mutation_p.E139G	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	1770					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GATCCCTCTGAAGCCTGGGCT	0.502000												
SLC32A1	140679	broad.mit.edu	37	20	37356232	37356232	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:37356232C>T	uc002xjc.3	+	1	791	c.528C>T	c.(526-528)gaC>gaT	p.D176D		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	Homo sapiens solute carrier family 32 (GABA vesicular transporter), member 1 (SLC32A1), mRNA.	176					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	AGAATGAAGACGGCGAGGTGG	0.647000												
SLC26A2	1836	broad.mit.edu	37	5	149360038	149360038	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:149360038C>T	uc003lrh.3	+	2	1150	c.882C>T	c.(880-882)ttC>ttT	p.F294F		NM_000112	NP_000103	P50443	S26A2_HUMAN	Homo sapiens solute carrier family 26 (sulfate transporter), member 2 (SLC26A2), mRNA.	294						integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TACATGTCTTCAGAAACATCC	0.433000												
C14orf102	55051	broad.mit.edu	37	14	90769464	90769464	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:90769464C>A	uc001xyi.2	-	5	1244	c.1011G>T	c.(1009-1011)gaG>gaT	p.E337D	C14orf102_uc010atp.1_Intron|C14orf102_uc001xyj.2_Missense_Mutation_p.E106D	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN	Homo sapiens chromosome 14 open reading frame 102 (C14orf102), mRNA.	337							protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(10)|lung(12)|ovary(5)|prostate(2)|upper_aerodigestive_tract(1)	39		all_cancers(154;0.118)		COAD - Colon adenocarcinoma(157;0.218)		TTTTCATGACCTCGTCCTCAA	0.473000												
PUS10	150962	broad.mit.edu	37	2	61192233	61192233	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:61192233G>A	uc010fci.3	-	7	743	c.683C>T	c.(682-684)gCg>gTg	p.A228V	PUS10_uc002sao.3_Missense_Mutation_p.A228V|PUS10_uc010ypk.2_Missense_Mutation_p.A5V	NM_144709	NP_653310	Q3MIT2	PUS10_HUMAN	Homo sapiens pseudouridylate synthase 10 (PUS10), mRNA.	228					pseudouridine synthesis|tRNA processing		RNA binding|pseudouridine synthase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			TGGGCATATCGCAGCTCTAAA	0.328000												
HERC2	8924	broad.mit.edu	37	15	28366571	28366571	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:28366571G>A	uc001zbj.3	-	85	13299	c.13193C>T	c.(13192-13194)gCg>gTg	p.A4398V		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	4398					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)		CCGGAAAGCCGCCTCCTAAAA	0.433000												
TLE4	7091	broad.mit.edu	37	9	82227576	82227576	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:82227576G>T	uc004ald.3	+	4	1086	c.237G>T	c.(235-237)gaG>gaT	p.E79D	TLE4_uc004alc.3_Missense_Mutation_p.E86D|TLE4_uc010mpr.3_5'UTR|TLE4_uc004ale.3_5'UTR|TLE4_uc011lsq.2_Missense_Mutation_p.E79D|TLE4_uc010mps.3_Missense_Mutation_p.E79D|TLE4_uc004alf.3_Missense_Mutation_p.E24D	NM_007005	NP_008936	O60756	BCE1_HUMAN	Homo sapiens transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) (TLE4), mRNA.	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						TGCAGGCAGAGATTGTCAAGA	0.388000												
KCMF1	56888	broad.mit.edu	37	2	85276640	85276640	+	Silent	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:85276640A>G	uc002sox.4	+	5	1097	c.753A>G	c.(751-753)gcA>gcG	p.A251A		NM_020122	NP_064507	Q9P0J7	KCMF1_HUMAN	Homo sapiens potassium channel modulatory factor 1 (KCMF1), mRNA.	251						intracellular	ligase activity|zinc ion binding			ovary(3)	3						TGGAGACCGCACGCAACGCAA	0.527000												
OR6C65	403282	broad.mit.edu	37	12	55794672	55794672	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:55794672C>T	uc010spl.2	+	0	360	c.360C>T	c.(358-360)cgC>cgT	p.R120R		NM_001005518	NP_001005518	A6NJZ3	O6C65_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 65 (OR6C65), mRNA.	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						CTTATGATCGCTATGTGGCTA	0.378000												
ASAP1	50807	broad.mit.edu	37	8	131070228	131070228	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:131070228A>G	uc003yta.2	-	28	3515	c.3287T>C	c.(3286-3288)gTc>gCc	p.V1096A	ASAP1_uc003ysz.2_Missense_Mutation_p.V907A|ASAP1_uc011liw.2_Missense_Mutation_p.V1089A	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 (ASAP1), transcript variant 1, mRNA.	1096	SH3.				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity|zinc ion binding	p.V1096I(1)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						TTCCCCTGTGACGATAATCAC	0.498000												
OR10G8	219869	broad.mit.edu	37	11	123900887	123900887	+	Silent	SNP	G	G	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:123900887G>C	uc001pzp.1	+	0	558	c.558G>C	c.(556-558)ctG>ctC	p.L186L		NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 8 (OR10G8), mRNA.	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TCCTGAAACTGGCCTGTGCAG	0.512000												
PELO	53918	broad.mit.edu	37	5	52096901	52096901	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:52096901G>A	uc003jos.3	+	1	1658	c.673G>A	c.(673-675)Gca>Aca	p.A225T	ITGA1_uc003jou.3_Intron|ITGA1_uc003jov.3_Intron	NM_015946	NP_057030	Q9BRX2	PELO_HUMAN	Homo sapiens pelota homolog (Drosophila) (PELO), mRNA.	225					cell cycle|cell division|translation	cytoplasm|nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	11		Lung NSC(810;4.94e-05)|Breast(144;0.0848)				GTTTCAACAAGCAGTGAAGAC	0.478000												
ZNF526	116115	broad.mit.edu	37	19	42729380	42729380	+	Silent	SNP	C	C	T	rs138082392	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:42729380C>T	uc002osz.1	+	2	981	c.825C>T	c.(823-825)tgC>tgT	p.C275C	ZNF526_uc021uvc.1_Silent_p.C275C	NM_133444	NP_597701	Q8TF50	ZN526_HUMAN	Homo sapiens zinc finger protein 526 (ZNF526), mRNA.	275					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				CTCAGGGCTGCGGGGACTGTC	0.657000												
KIAA0020	9933	broad.mit.edu	37	9	2824797	2824797	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:2824797G>A	uc003zhp.1	-	10	1150	c.1054C>T	c.(1054-1056)Cgc>Tgc	p.R352C	KIAA0020_uc003zhq.1_Missense_Mutation_p.R351C	NM_014878	NP_055693	Q15397	K0020_HUMAN	Homo sapiens KIAA0020 (KIAA0020), mRNA.	352	PUM-HD.					endoplasmic reticulum|nucleolus	RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		ACCGCTTCGCGGATGGCTTCA	0.527000												
ACHE	43	broad.mit.edu	37	7	100491577	100491577	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:100491577C>T	uc003uxd.3	-	0	433	c.277G>A	c.(277-279)Gct>Act	p.A93T	ACHE_uc003uxe.3_Missense_Mutation_p.A93T|ACHE_uc003uxf.3_Missense_Mutation_p.A93T|ACHE_uc003uxg.3_Missense_Mutation_p.A93T|ACHE_uc003uxh.3_Missense_Mutation_p.A93T|ACHE_uc003uxi.3_Missense_Mutation_p.A93T|ACHE_uc003uxj.1_Missense_Mutation_p.A212T	NM_000665	NP_000656	P22303	ACES_HUMAN	Homo sapiens acetylcholinesterase (ACHE), transcript variant E4-E6, mRNA.	93					DNA replication|acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	Golgi apparatus|anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	AAGGTTGTAGCGTCTACCACC	0.592000												
SNCAIP	9627	broad.mit.edu	37	5	121761189	121761189	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:121761189A>C	uc003ksw.1	+	4	1351	c.1145A>C	c.(1144-1146)aAc>aCc	p.N382T	SNCAIP_uc011cwl.1_Intron|SNCAIP_uc010jct.3_Missense_Mutation_p.N382T|SNCAIP_uc003ksy.1_Intron|SNCAIP_uc003ksx.1_Missense_Mutation_p.N429T|SNCAIP_uc003ksz.1_Intron|SNCAIP_uc010jcu.2_Intron|SNCAIP_uc011cwm.1_Intron|SNCAIP_uc003kta.1_Intron|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Missense_Mutation_p.N76T|SNCAIP_uc010jcx.1_Intron	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	382					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		AATGAGCGCAACACTGAGAAG	0.483000												
LRRC7	57554	broad.mit.edu	37	1	70478695	70478695	+	Silent	SNP	C	C	T	rs149111202	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:70478695C>T	uc001dep.3	+	10	1089	c.1059C>T	c.(1057-1059)cgC>cgT	p.R353R	LRRC7_uc009wbg.3_5'UTR	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	353						centrosome|focal adhesion|nucleolus	protein binding	p.R353S(1)|p.R353C(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TGTCTCTACGCTCCAACAAAT	0.313000												
MYH7B	57644	broad.mit.edu	37	20	33568472	33568472	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:33568472G>A	uc002xbi.2	+	7	877	c.560G>A	c.(559-561)cGc>cAc	p.R187H	MYH7B_uc010gfa.1_Missense_Mutation_p.R145H	NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	145	Myosin head-like.					membrane|myosin filament	ATP binding|actin binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			AAGGGAAAGCGCCGCTCAGAT	0.582000												
MMP28	79148	broad.mit.edu	37	17	34097268	34097268	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:34097268C>T	uc002hjy.1	-	5	924	c.665G>A	c.(664-666)cGc>cAc	p.R222H	MMP28_uc002hjw.1_Non-coding_Transcript|MMP28_uc002hjz.1_Non-coding_Transcript	NM_024302	NP_077278	Q9H239	MMP28_HUMAN	Homo sapiens matrix metallopeptidase 28 (MMP28), transcript variant 1, mRNA.	223					proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|lung(7)|ovary(1)|skin(5)	16		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CAGGGACCAGCGCTCATCTTG	0.746000												
PIK3R5	23533	broad.mit.edu	37	17	8789551	8789551	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:8789551G>A	uc002glt.3	-	13	2190	c.2123C>T	c.(2122-2124)gCg>gTg	p.A708V	PIK3R5_uc010vuz.2_Missense_Mutation_p.A708V|PIK3R5_uc021tqc.1_Missense_Mutation_p.A322V|PIK3R5_uc010cob.2_Missense_Mutation_p.A322V|PIK3R5_uc010coa.2_Missense_Mutation_p.A322V|PIK3R5_uc002glu.4_Missense_Mutation_p.A322V	NM_014308	NP_001238784	Q8WYR1	PI3R5_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 5 (PIK3R5), transcript variant 2, mRNA.	708	Interaction with G beta gamma proteins (By similarity).				platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						CCCACCTGACGCCTTGATGGC	0.627000												
SI	6476	broad.mit.edu	37	3	164709998	164709998	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:164709998G>A	uc003fei.3	-	42	5013	c.4950C>T	c.(4948-4950)taC>taT	p.Y1650Y		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	1650	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CATTGGGGACGTAGGCATTTA	0.353000										HNSCC(35;0.089)		
TECPR1	25851	broad.mit.edu	37	7	97850998	97850998	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:97850998C>T	uc003upg.3	-	22	3337	c.3132G>A	c.(3130-3132)acG>acA	p.T1044T		NM_015395	NP_056210	Q7Z6L1	TCPR1_HUMAN	Homo sapiens tectonin beta-propeller repeat containing 1 (TECPR1), mRNA.	1044						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CATACACCGACGTCTGCCCCG	0.552000												
SRGAP2	23380	broad.mit.edu	37	1	206626563	206626563	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:206626563G>A	uc001hdy.3	+	16	1937	c.1936G>A	c.(1936-1938)Gcc>Acc	p.A646T	SRGAP2_uc010prt.1_Missense_Mutation_p.A569T|SRGAP2_uc001hdx.3_Missense_Mutation_p.A646T|SRGAP2_uc010pru.2_Missense_Mutation_p.A645T|SRGAP2_uc010prv.1_Missense_Mutation_p.A570T	NM_015326	NP_056141	O75044	FNBP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 2 (SRGAP2), transcript variant 1, mRNA.	733	Rho-GAP.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					GCCCATCGAGGCCATTGCCAA	0.532000												
ZNF75D	7626	broad.mit.edu	37	X	134421741	134421741	+	Silent	SNP	A	A	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:134421741A>C	uc022ceq.1	-	5	1251	c.861T>G	c.(859-861)ccT>ccG	p.P287P	DKFZp451F083_uc004eym.3_Intron|DKFZp451F083_uc022cep.1_Intron|ZNF75D_uc004eyo.3_Silent_p.P192P	NM_007131	NP_009062	P51815	ZN75D_HUMAN	Homo sapiens zinc finger protein 75D (ZNF75D), transcript variant 1, mRNA.	287	KRAB.				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						AAACAGATATAGGATGATCAT	0.363000												
TTC13	79573	broad.mit.edu	37	1	231090101	231090101	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:231090101C>T	uc001huf.4	-	3	533	c.491G>A	c.(490-492)cGg>cAg	p.R164Q	TTC13_uc001hug.4_Missense_Mutation_p.R164Q|TTC13_uc009xfj.3_Non-coding_Transcript|TTC13_uc009xfk.2_Missense_Mutation_p.R107Q	NM_024525	NP_078801	Q8NBP0	TTC13_HUMAN	Homo sapiens tetratricopeptide repeat domain 13 (TTC13), transcript variant 1, mRNA.	164							binding			central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		TGAAAAATGCCGTATTGCTTC	0.303000												
TCTE1	202500	broad.mit.edu	37	6	44248038	44248038	+	Silent	SNP	G	G	A	rs149052184		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:44248038G>A	uc003oxi.2	-	4	1542	c.1386C>T	c.(1384-1386)agC>agT	p.S462S	TMEM151B_uc003oxg.3_Intron|TMEM151B_uc003oxf.2_Intron	NM_182539	NP_872345	Q5JU00	TCTE1_HUMAN	Homo sapiens t-complex-associated-testis-expressed 1 (TCTE1), mRNA.	462								p.S462S(2)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TGAGGTACTCGCTTTCCTGGG	0.587000												
TLE3	7090	broad.mit.edu	37	15	70346947	70346947	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:70346947C>T	uc002asl.2	-	14	1966	c.1665G>A	c.(1663-1665)acG>acA	p.T555T	TLE3_uc002ask.2_Silent_p.T482T|TLE3_uc010ukd.1_Silent_p.T545T|TLE3_uc010bil.1_Silent_p.T552T|TLE3_uc002asn.2_Silent_p.T543T|TLE3_uc002asm.2_Silent_p.T555T|TLE3_uc002asp.2_Silent_p.T547T|TLE3_uc002aso.2_Silent_p.T550T	NM_001105192	NP_001098662	Q04726	TLE3_HUMAN	Homo sapiens transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila) (TLE3), transcript variant 2, mRNA.	555					Wnt receptor signaling pathway|organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AGATGGTGAGCGTGCTGGCCT	0.667000												
C15orf39	56905	broad.mit.edu	37	15	75499456	75499456	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:75499456G>A	uc002azp.4	+	1	1387	c.1067G>A	c.(1066-1068)gGc>gAc	p.G356D	C15orf39_uc002azq.4_Missense_Mutation_p.G356D|C15orf39_uc021sqm.1_Missense_Mutation_p.G115D|C15orf39_uc002azr.4_5'Flank	NM_015492	NP_056307	Q6ZRI6	CO039_HUMAN	Homo sapiens chromosome 15 open reading frame 39 (C15orf39), mRNA.	356										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CCCTCTCCAGGCCTCAAGCTG	0.627000												
PCLO	27445	broad.mit.edu	37	7	82581328	82581328	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:82581328G>A	uc003uhx.2	-	4	9230	c.8941C>T	c.(8941-8943)Cca>Tca	p.P2981S	PCLO_uc003uhv.2_Missense_Mutation_p.P2981S|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2912					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TAACCATATGGCCCTGATCGA	0.433000												
TTN	7273	broad.mit.edu	37	2	179422671	179422671	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:179422671C>A	uc021vsy.1	-	276	79931	c.79706G>T	c.(79705-79707)aGg>aTg	p.R26569M	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R20264M|TTN_uc021vta.1_Missense_Mutation_p.R20197M|TTN_uc021vtb.1_Missense_Mutation_p.R20072M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	27496	Fibronectin type-III 93.						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)			AGGACCAGGCCTGTCTAGCAC	0.448000												
NCOR2	9612	broad.mit.edu	37	12	124857100	124857100	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:124857100C>T	uc021rga.1	-	19	2392	c.2275G>A	c.(2275-2277)Gcc>Acc	p.A759T	NCOR2_uc021rgb.1_Missense_Mutation_p.A742T|NCOR2_uc010tbb.2_Missense_Mutation_p.A759T|NCOR2_uc010tbc.2_Missense_Mutation_p.A741T|NCOR2_uc021rgc.1_Missense_Mutation_p.A741T|NCOR2_uc010tba.2_Missense_Mutation_p.A759T|NCOR2_uc001ugj.1_Missense_Mutation_p.A759T	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	759					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GTGTCCTTGGCGGCCTCAGTG	0.687000												
SLC38A1	81539	broad.mit.edu	37	12	46602891	46602891	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:46602891T>C	uc009zkj.1	-	5	1019	c.334A>G	c.(334-336)Aca>Gca	p.T112A	SLC38A1_uc001rpb.3_Missense_Mutation_p.T112A|SLC38A1_uc001rpc.3_Missense_Mutation_p.T112A|SLC38A1_uc001rpd.3_Missense_Mutation_p.T112A|SLC38A1_uc001rpe.3_Missense_Mutation_p.T112A|SLC38A1_uc010slh.2_Missense_Mutation_p.T85A|SLC38A1_uc001rpa.3_Missense_Mutation_p.T112A	NM_030674	NP_109599	Q9H2H9	S38A1_HUMAN	Homo sapiens solute carrier family 38, member 1 (SLC38A1), transcript variant 1, mRNA.	112					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			GACAGCAATGTCACTGAAGTC	0.318000												
OR5P3	120066	broad.mit.edu	37	11	7847232	7847232	+	Silent	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:7847232A>G	uc010rbg.2	-	0	288	c.288T>C	c.(286-288)ggT>ggC	p.G96G		NM_153445	NP_703146	Q8WZ94	OR5P3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily P, member 3 (OR5P3), mRNA.	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGGCCACACAACCAGCAACAG	0.537000												
URB2	9816	broad.mit.edu	37	1	229783427	229783427	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:229783427G>T	uc001hts.1	+	6	4213	c.4077G>T	c.(4075-4077)aaG>aaT	p.K1359N	URB2_uc009xfd.1_Missense_Mutation_p.K1359N	NM_014777	NP_055592	Q14146	URB2_HUMAN	Homo sapiens URB2 ribosome biogenesis 2 homolog (S. cerevisiae) (URB2), mRNA.	1359						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						ACCATCTGAAGCCGCTGGAGT	0.607000												
SLC45A3	85414	broad.mit.edu	37	1	205632060	205632060	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:205632060T>C	uc001hda.1	-	2	1198	c.859A>G	c.(859-861)Acc>Gcc	p.T287A	SLC45A3_uc010prn.1_5'Flank|SLC45A3_uc010pro.1_Missense_Mutation_p.T121A|SLC45A3_uc010prp.1_Intron|SLC45A3_uc010prq.1_Intron	NM_033102	NP_149093	Q96JT2	S45A3_HUMAN	Homo sapiens solute carrier family 45, member 3 (SLC45A3), mRNA.	287					transmembrane transport	integral to membrane			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			AGCGTGAAGGTCATGAGTGCC	0.667000			T	"""ETV1, ETV5, ELK4, ERG"""	prostate							
BTAF1	9044	broad.mit.edu	37	10	93726433	93726433	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:93726433G>A	uc001khr.3	+	13	1667	c.1569G>A	c.(1567-1569)tgG>tgA	p.W523*	BTAF1_uc001khs.1_Nonsense_Mutation_p.W193*|BTAF1_uc001kht.1_5'UTR	NM_003972	NP_003963	O14981	BTAF1_HUMAN	Homo sapiens BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae) (BTAF1), mRNA.	523					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				CACGTGTCTGGCCTTTTTTGC	0.348000												
GSK3A	2931	broad.mit.edu	37	19	42737272	42737272	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:42737272G>T	uc002otb.1	-	7	1207	c.1088C>A	c.(1087-1089)cCc>cAc	p.P363H	GSK3A_uc002ota.1_Missense_Mutation_p.P281H	NM_019884	NP_063937	P49840	GSK3A_HUMAN	Homo sapiens glycogen synthase kinase 3 alpha (GSK3A), mRNA.	363	Protein kinase.				insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of insulin receptor signaling pathway|negative regulation of transferase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process	beta-catenin destruction complex|cytosol	ATP binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|tau-protein kinase activity			endometrium(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	19		Prostate(69;0.00682)				CTTTGTCCAGGGGTGAGCTTT	0.557000												
MCM3AP	8888	broad.mit.edu	37	21	47665034	47665034	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr21:47665034G>A	uc002zir.1	-	22	4761	c.4725C>T	c.(4723-4725)taC>taT	p.Y1575Y	MCM3AP-AS1_uc002zim.2_Intron|MCM3AP-AS1_uc002zin.2_Intron|MCM3AP_uc002zio.1_Silent_p.Y70Y|MCM3AP_uc002zip.1_Silent_p.Y316Y|MCM3AP_uc002ziq.1_Silent_p.Y502Y|MCM3AP-AS1_uc002zis.1_Intron	NM_003906	NP_003897	O60318	MCM3A_HUMAN	Homo sapiens minichromosome maintenance complex component 3 associated protein (MCM3AP), mRNA.	1575					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CGTCTTCGACGTACTGAATGA	0.547000												
KIF23	9493	broad.mit.edu	37	15	69728955	69728955	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:69728955C>T	uc002asb.3	+	13	1627	c.1449C>T	c.(1447-1449)tgC>tgT	p.C483C	KIF23_uc002asc.3_Silent_p.C483C|KIF23_uc010bii.3_Silent_p.C373C|KIF23_uc010ukc.2_Silent_p.C300C	NM_138555	NP_612565	Q02241	KIF23_HUMAN	Homo sapiens kinesin family member 23 (KIF23), transcript variant 1, mRNA.	483					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						TGCCATCATGCGAAATTTTGG	0.363000												
KCNMA1	3778	broad.mit.edu	37	10	78647147	78647147	+	Silent	SNP	C	C	T	rs75138661		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:78647147C>T	uc001jxn.3	-	27	3765	c.3588G>A	c.(3586-3588)tcG>tcA	p.S1196S	KCNMA1_uc021ptu.1_Silent_p.S1088S|KCNMA1_uc001jxj.2_Silent_p.S1142S|KCNMA1_uc001jxk.1_Silent_p.S814S|KCNMA1_uc009xrt.1_Silent_p.S987S|KCNMA1_uc001jxl.1_Silent_p.S821S|KCNMA1_uc001jxo.3_Silent_p.S1179S|KCNMA1_uc001jxm.3_Silent_p.S1138S|KCNMA1_uc001jxq.3_Silent_p.S1168S|BC030624_uc001jxp.3_5'Flank	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, alpha member 1 (KCNMA1), transcript variant 3, mRNA.	1196					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	TGGAGGACTGCGACGAGTGGG	0.582000												
NPEPL1	79716	broad.mit.edu	37	20	57276144	57276144	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:57276144C>T	uc010zzs.1	+	5	847	c.752C>T	c.(751-753)gCc>gTc	p.A251V	NPEPL1_uc010zzr.2_Missense_Mutation_p.A203V|NPEPL1_uc010gjo.2_Missense_Mutation_p.A223V|NPEPL1_uc002xzp.3_Missense_Mutation_p.A139V	NM_024663	NP_078939	Q8NDH3	PEPL1_HUMAN	Homo sapiens aminopeptidase-like 1 (NPEPL1), transcript variant 1, mRNA.	251					proteolysis	cytoplasm	aminopeptidase activity|manganese ion binding|metalloexopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			CCAGATGGAGCCACGCAGACC	0.627000												
ZNF629	23361	broad.mit.edu	37	16	30794300	30794300	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:30794300C>T	uc002dzs.1	-	2	1557	c.1349G>A	c.(1348-1350)cGc>cAc	p.R450H		NM_001080417	NP_001073886	Q9UEG4	ZN629_HUMAN	Homo sapiens zinc finger protein 629 (ZNF629), mRNA.	450					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			GGTGTGGATGCGCTGGTGGCG	0.637000												
RBMXL1	494115	broad.mit.edu	37	1	89448926	89448926	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:89448926C>T	uc021opo.1	-	0	584	c.584G>A	c.(583-585)cGa>cAa	p.R195Q	CCBL2_uc001dmp.2_Intron|CCBL2_uc001dmq.2_Intron|CCBL2_uc001dmr.2_Intron|RBMXL1_uc009wcx.3_Missense_Mutation_p.R195Q|RBMXL1_uc001dms.3_Missense_Mutation_p.R195Q	NM_019610	NP_062556	Q96E39	RBMXL_HUMAN	Homo sapiens RNA binding motif protein, X-linked-like 1 (RBMXL1), transcript variant 2, mRNA.	195							RNA binding|nucleotide binding										CGGTTCCCTTCGAGGTGGACC	0.483000												
TAB1	10454	broad.mit.edu	37	22	39811575	39811575	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:39811575G>T	uc003axt.3	+	2	290	c.241G>T	c.(241-243)Gcc>Tcc	p.A81S	TAB1_uc003axr.3_Missense_Mutation_p.A157S|TAB1_uc011aok.2_5'UTR|TAB1_uc003axu.1_Missense_Mutation_p.A81S	NM_006116	NP_006107	Q15750	TAB1_HUMAN	Homo sapiens TGF-beta activated kinase 1/MAP3K7 binding protein 1 (TAB1), transcript variant alpha, mRNA.	81	PP2C-like.				I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|activation of MAPKKK activity|innate immune response|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						CAACTTCGTGGCCCAGCGGCT	0.637000												
APOA5	116519	broad.mit.edu	37	11	116661211	116661211	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:116661211C>T	uc009yzg.3	-	1	1244	c.812G>A	c.(811-813)cGc>cAc	p.R271H	ZNF259_uc001ppp.3_5'Flank|APOA5_uc001ppr.3_Missense_Mutation_p.R245H|APOA5_uc009yzf.3_Missense_Mutation_p.R245H			Q6Q788	APOA5_HUMAN	Homo sapiens apolipoprotein A-V (APOA5), transcript variant 2, mRNA.	245					acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		CTGCTGGATGCGTGCGTGCAG	0.697000												
SNAI2	6591	broad.mit.edu	37	8	49833817	49833817	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:49833817C>T	uc003xqp.3	-	0	183	c.8G>A	c.(7-9)cGc>cAc	p.R3H		NM_003068	NP_003059	O43623	SNAI2_HUMAN	Homo sapiens snail homolog 2 (Drosophila) (SNAI2), mRNA.	3					canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				CAGGAAGGAGCGCGGCATCTT	0.587000												
KIAA0247	9766	broad.mit.edu	37	14	70171413	70171413	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:70171413C>A	uc001xlk.3	+	3	728	c.412C>A	c.(412-414)Ctg>Atg	p.L138M	KIAA0247_uc010aqz.3_Missense_Mutation_p.L113M	NM_014734	NP_055549	Q92537	K0247_HUMAN	Homo sapiens KIAA0247 (KIAA0247), mRNA.	138						integral to membrane				endometrium(1)|kidney(1)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)	10				all cancers(60;0.00155)|BRCA - Breast invasive adenocarcinoma(234;0.0164)|OV - Ovarian serous cystadenocarcinoma(108;0.0196)		CCTCGTGGTGCTGTTTGTGCT	0.527000												
EIF4G1	1981	broad.mit.edu	37	3	184039307	184039307	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:184039307G>A	uc003fnp.3	+	9	1206	c.935G>A	c.(934-936)cGc>cAc	p.R312H	EIF4G1_uc003fno.2_Missense_Mutation_p.R253H|EIF4G1_uc010hxw.2_Missense_Mutation_p.R148H|EIF4G1_uc010hxx.3_Missense_Mutation_p.R319H|EIF4G1_uc003fnt.3_Missense_Mutation_p.R23H|EIF4G1_uc010hxy.3_Missense_Mutation_p.R319H|EIF4G1_uc003fnq.3_Missense_Mutation_p.R225H|EIF4G1_uc003fnr.3_Missense_Mutation_p.R148H|EIF4G1_uc003fns.3_Missense_Mutation_p.R272H|EIF4G1_uc003fnv.4_Missense_Mutation_p.R312H|EIF4G1_uc003fnw.3_Missense_Mutation_p.R319H|EIF4G1_uc003fnx.3_Missense_Mutation_p.R116H	NM_198241	NP_937885	Q04637	IF4G1_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 1 (EIF4G1), transcript variant 2, mRNA.	312					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	p.R312H(2)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GAGCCATATCGCCTCTCTCCA	0.493000												
TCF4	6925	broad.mit.edu	37	18	52946880	52946880	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:52946880G>A	uc002lga.3	-	9	923	c.863C>T	c.(862-864)gCt>gTt	p.A288V	TCF4_uc021ukg.1_Missense_Mutation_p.A26V|TCF4_uc021ukh.1_Missense_Mutation_p.A26V|TCF4_uc002lfw.4_Missense_Mutation_p.A26V|TCF4_uc010xdu.1_Missense_Mutation_p.A56V|TCF4_uc010xdv.1_Missense_Mutation_p.A56V|TCF4_uc021uki.1_Missense_Mutation_p.A115V|TCF4_uc002lfx.2_Missense_Mutation_p.A115V|TCF4_uc010xdw.1_Missense_Mutation_p.A56V|TCF4_uc002lfy.2_Missense_Mutation_p.A144V|TCF4_uc010xdx.1_Missense_Mutation_p.A162V|TCF4_uc021ukj.1_Missense_Mutation_p.A126V|TCF4_uc021ukk.1_Missense_Mutation_p.A126V|TCF4_uc021ukl.1_Missense_Mutation_p.A184V|TCF4_uc002lfz.2_Missense_Mutation_p.A186V|TCF4_uc010dph.1_Missense_Mutation_p.A186V|TCF4_uc010dpi.3_Missense_Mutation_p.A192V|TCF4_uc010xdy.1_Missense_Mutation_p.A162V|TCF4_uc002lgc.4_Missense_Mutation_p.A107V|TCF4_uc021ukm.1_Missense_Mutation_p.L71F	NM_001243226	NP_001230155	P15884	ITF2_HUMAN	Homo sapiens transcription factor 4 (TCF4), transcript variant 3, mRNA.	186					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|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|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding|protein C-terminus binding|protein heterodimerization activity|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity			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)		TGCTGATGGAGCATAGACCTG	0.483000												
TMEM151A	256472	broad.mit.edu	37	11	66061810	66061810	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:66061810G>A	uc001ohl.3	+	1	205	c.93G>A	c.(91-93)caG>caA	p.Q31Q		NM_153266	NP_694998	Q8N4L1	T151A_HUMAN	Homo sapiens transmembrane protein 151A (TMEM151A), mRNA.	31						integral to membrane				central_nervous_system(1)|kidney(4)|lung(6)	11						CCCTGAAACAGTCCCTGGGAA	0.657000												
HELZ	9931	broad.mit.edu	37	17	65184657	65184657	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:65184657C>T	uc010wqk.2	-	11	1127	c.940G>A	c.(940-942)Gcc>Acc	p.A314T	HELZ_uc002jfv.4_Non-coding_Transcript|HELZ_uc002jfx.4_Missense_Mutation_p.A314T	NM_014877	NP_055692			Homo sapiens helicase with zinc finger (HELZ), mRNA.											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					CTATCTCCGGCAGATATTGCA	0.393000												
MTF2	22823	broad.mit.edu	37	1	93584943	93584943	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:93584943G>A	uc009wdj.3	+	7	1074	c.782G>A	c.(781-783)cGt>cAt	p.R261H	MTF2_uc010oth.2_Missense_Mutation_p.R159H|MTF2_uc009wdk.3_Missense_Mutation_p.R261H|MTF2_uc010oti.2_Missense_Mutation_p.R159H|MTF2_uc001dpi.4_Silent_p.T29T|MTF2_uc001dpl.4_Missense_Mutation_p.R159H	NM_007358	NP_031384	Q9Y483	MTF2_HUMAN	Homo sapiens metal response element binding transcription factor 2 (MTF2), transcript variant 1, mRNA.	261						nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		TACCTCAAACGTCTACCATTA	0.323000												
BRCA2	675	broad.mit.edu	37	13	32953551	32953551	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:32953551C>T	uc001uub.1	+	21	9079	c.8852C>T	c.(8851-8853)gCc>gTc	p.A2951V		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	2951			A -> T.		cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		ATTAGGAAGGCCATGGAATCT	0.383000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)		
TRPM1	4308	broad.mit.edu	37	15	31358383	31358383	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:31358383G>A	uc021sia.1	-	5	1051	c.737C>T	c.(736-738)aCc>aTc	p.T246I	TRPM1_uc010azy.3_Missense_Mutation_p.T120I|TRPM1_uc001zfl.3_Non-coding_Transcript|TRPM1_uc021shz.1_Missense_Mutation_p.T229I|TRPM1_uc001zfm.3_Missense_Mutation_p.T207I|MIR211_uc010ubm.1_5'Flank	NM_001252020	NP_001238949	Q7Z4N2	TRPM1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA.	207					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GATGAAGTGGGTGTGGGAGTT	0.532000												
CHD8	57680	broad.mit.edu	37	14	21873401	21873401	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:21873401G>A	uc001war.2	-	14	3339	c.3274C>T	c.(3274-3276)Cgc>Tgc	p.R1092C	CHD8_uc001was.2_Missense_Mutation_p.R813C|CHD8_uc001wav.1_Missense_Mutation_p.R255C	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	1092					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|beta-catenin binding|methylated histone residue binding|p53 binding	p.R1092H(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CAGCACTTGCGCAACTCCATC	0.433000												
DNAJB7	150353	broad.mit.edu	37	22	41257568	41257568	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:41257568T>A	uc003azj.3	-	0	563	c.431A>T	c.(430-432)tAt>tTt	p.Y144F	XPNPEP3_uc011aox.2_Intron|XPNPEP3_uc003azh.3_Intron|XPNPEP3_uc003azi.3_Intron|XPNPEP3_uc011aoy.1_5'Flank|XPNPEP3_uc003azf.2_Intron|XPNPEP3_uc003azg.2_Intron|XPNPEP3_uc010gyh.1_5'Flank	NM_145174	NP_660157	Q7Z6W7	DNJB7_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 7 (DNAJB7), mRNA.	144					protein folding		heat shock protein binding|unfolded protein binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						AAAAATTGGATATTCACTGGC	0.408000												
TDRKH	11022	broad.mit.edu	37	1	151747603	151747603	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:151747603C>T	uc009wnb.1	-	10	1656	c.1474G>A	c.(1474-1476)Gca>Aca	p.A492T	TDRKH_uc001eyy.2_Missense_Mutation_p.A268T|TDRKH_uc001ezb.4_Missense_Mutation_p.A488T|TDRKH_uc001ezc.4_Missense_Mutation_p.A447T|TDRKH_uc001eza.4_Missense_Mutation_p.A492T|TDRKH_uc001ezd.4_Missense_Mutation_p.A492T|TDRKH_uc010pdn.1_Missense_Mutation_p.A268T	NM_006862	NP_006853	Q9Y2W6	TDRKH_HUMAN	Homo sapiens tudor and KH domain containing (TDRKH), transcript variant 3, mRNA.	492							RNA binding			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AGCTCAATTGCGTATCCTTTG	0.408000												
ATP10A	57194	broad.mit.edu	37	15	25932965	25932965	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:25932965G>A	uc010ayu.3	-	15	3282	c.3176C>T	c.(3175-3177)gCc>gTc	p.A1059V		NM_024490	NP_077816	O60312	AT10A_HUMAN	Homo sapiens ATPase, class V, type 10A (ATP10A), mRNA.	1059					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		AAAGTCGCTGGCCATCACTGC	0.517000												
COL22A1	169044	broad.mit.edu	37	8	139696666	139696666	+	Splice_Site	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:139696666A>G	uc003yvd.3	-	39	3459	c.3012_splice	c.e39+1	p.K1004_splice	COL22A1_uc011ljo.2_Splice_Site_p.K304_splice	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	1004	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)			ACAAGCACTCACCTTGGTTCC	0.483000										HNSCC(7;0.00092)		
ILF3	3609	broad.mit.edu	37	19	10793873	10793873	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:10793873C>T	uc002mpn.3	+	13	1926	c.1609C>T	c.(1609-1611)Cgt>Tgt	p.R537C	ILF3_uc010xli.1_Missense_Mutation_p.R135C|ILF3_uc002mpm.2_Missense_Mutation_p.R541C|ILF3_uc002mpl.2_Missense_Mutation_p.R537C|ILF3_uc002mpk.2_Missense_Mutation_p.R537C|ILF3_uc002mpo.3_Missense_Mutation_p.R541C|ILF3_uc002mpp.3_Missense_Mutation_p.R362C|ILF3_uc002mpq.3_5'Flank	NM_012218	NP_036350	Q12906	ILF3_HUMAN	Homo sapiens interleukin enhancer binding factor 3, 90kDa (ILF3), transcript variant 1, mRNA.	537	DRBM 2.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			CGAGAAGAGGCGTGGGCTCAA	0.592000												
PFKL	5211	broad.mit.edu	37	21	45741708	45741708	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr21:45741708C>T	uc002zek.3	+	15	1830	c.1429C>T	c.(1429-1431)Cac>Tac	p.H477Y	PFKL_uc002zel.3_Missense_Mutation_p.H430Y|PFKL_uc002zem.3_Missense_Mutation_p.H17Y|PFKL_uc002zen.3_Missense_Mutation_p.H17Y			P17858	K6PL_HUMAN	Homo sapiens phosphofructokinase, liver (PFKL), transcript variant 1, non-coding RNA.	430					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		CTCCCATGGACACACAGTATA	0.637000												
DTX1	1840	broad.mit.edu	37	12	113515327	113515327	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:113515327G>T	uc001tuk.1	+	1	694	c.358G>T	c.(358-360)Gcc>Tcc	p.A120S		NM_004416	NP_004407	Q86Y01	DTX1_HUMAN	Homo sapiens deltex homolog 1 (Drosophila) (DTX1), mRNA.	120	WWE 2.				Notch signaling pathway|negative regulation of neuron differentiation|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.A120A(3)		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						CGCATGGACGGCCTACGATAT	0.627000												
LIMCH1	22998	broad.mit.edu	37	4	41664914	41664914	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:41664914G>A	uc003gvz.4	+	19	3621	c.3204G>A	c.(3202-3204)caG>caA	p.Q1068Q	LIMCH1_uc003gwe.4_Silent_p.Q683Q|LIMCH1_uc003gvu.4_Silent_p.Q683Q|LIMCH1_uc003gvv.4_Silent_p.Q683Q|LIMCH1_uc003gvw.4_Silent_p.Q683Q|LIMCH1_uc003gvx.4_Silent_p.Q671Q|LIMCH1_uc003gvy.4_Silent_p.Q512Q|LIMCH1_uc003gwa.4_Silent_p.Q524Q|LIMCH1_uc011byu.2_Silent_p.Q517Q|LIMCH1_uc003gwc.4_Silent_p.Q529Q|LIMCH1_uc003gwd.4_Silent_p.Q517Q|LIMCH1_uc011byv.2_Silent_p.Q434Q|LIMCH1_uc011byw.2_5'UTR	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA.	683	LIM zinc-binding.				actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						CCAGCCCCCAGCTGAAGAATG	0.473000												
CA3	761	broad.mit.edu	37	8	86357402	86357402	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:86357402C>T	uc003ydj.3	+	4	545	c.462C>T	c.(460-462)ggC>ggT	p.G154G	CA3_uc011lfv.2_Non-coding_Transcript	NM_005181	NP_005172	P07451	CAH3_HUMAN	Homo sapiens carbonic anhydrase III, muscle specific (CA3), mRNA.	154					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						ATGAGAATGGCGAGTTCCAGA	0.343000												
HMCN1	83872	broad.mit.edu	37	1	186147722	186147722	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:186147722C>T	uc001grq.1	+	103	16347	c.16118C>T	c.(16117-16119)gCa>gTa	p.A5373V	MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	5373					response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TATAACCTTGCACGGTTCTCC	0.453000												
TACC1	6867	broad.mit.edu	37	8	38677330	38677330	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:38677330G>A	uc010lwp.3	+	2	947	c.568G>A	c.(568-570)Gcc>Acc	p.A190T	TACC1_uc011lby.1_5'UTR|TACC1_uc003xma.3_Intron|TACC1_uc003xmb.4_Missense_Mutation_p.A145T|TACC1_uc003xlz.3_5'UTR|TACC1_uc003xmc.4_5'UTR|TACC1_uc011lbz.2_Missense_Mutation_p.A206T|TACC1_uc003xme.1_Intron|TACC1_uc003xmd.1_Intron|TACC1_uc010lwo.1_Intron|TACC1_uc003xmf.4_Intron|TACC1_uc011lca.2_Missense_Mutation_p.A190T|TACC1_uc011lcb.2_5'UTR|TACC1_uc011lcc.2_5'UTR|TACC1_uc011lcd.2_Non-coding_Transcript|TACC1_uc003xmh.4_5'UTR|TACC1_uc010lwq.3_5'UTR	NM_006283	NP_001139688	O75410	TACC1_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 1 (TACC1), transcript variant 1, mRNA.	190	Interaction with TDRD7.				cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			CCCGCCAGACGCCCTCCAGGA	0.587000												
CABLES2	81928	broad.mit.edu	37	20	60966415	60966415	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:60966415G>A	uc002ycv.2	-	8	1193	c.1186C>T	c.(1186-1188)Cag>Tag	p.Q396*		NM_031215	NP_112492	Q9BTV7	CABL2_HUMAN	Homo sapiens Cdk5 and Abl enzyme substrate 2 (CABLES2), mRNA.	396					cell cycle|cell division|regulation of cell cycle|regulation of cell division		cyclin-dependent protein kinase regulator activity			endometrium(2)|kidney(1)|lung(6)|pancreas(1)|skin(1)	11	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			AGCTTGCCCTGCAGGACCAGC	0.632000												
NRK	203447	broad.mit.edu	37	X	105178303	105178303	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:105178303G>A	uc004emd.3	+	19	3669	c.3366G>A	c.(3364-3366)ccG>ccA	p.P1122P	NRK_uc010npc.1_Silent_p.P790P	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	1122							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GTGCTGCACCGTCAGCACCTG	0.418000										HNSCC(51;0.14)		
LUM	4060	broad.mit.edu	37	12	91498015	91498015	+	Missense_Mutation	SNP	C	C	T	rs139919924		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:91498015C>T	uc001tbm.3	-	2	1333	c.944G>A	c.(943-945)cGc>cAc	p.R315H		NM_002345	NP_002336	P51884	LUM_HUMAN	Homo sapiens lumican (LUM), mRNA.	315					collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent	p.R315H(2)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						TTCTGAGATGCGATTGCCATC	0.378000												
PRKDC	5591	broad.mit.edu	37	8	48772316	48772316	+	Silent	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:48772316A>G	uc003xqi.3	-	46	6117	c.6060T>C	c.(6058-6060)ggT>ggC	p.G2020G	PRKDC_uc003xqj.3_Silent_p.G2020G	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	2021		Cleavage; by caspase-3 (Probable).			cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TATAGGAAGGACCATCTGAAA	0.318000								Non-homologous end-joining				
E4F1	1877	broad.mit.edu	37	16	2284179	2284179	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:2284179G>A	uc002cpm.3	+	9	1431	c.1383G>A	c.(1381-1383)agG>agA	p.R461R	E4F1_uc010bsi.3_Silent_p.R461R|E4F1_uc010bsj.3_Intron|DNASE1L2_uc002cpn.3_5'Flank|DNASE1L2_uc002cpo.3_5'Flank|DNASE1L2_uc002cpp.3_5'Flank|DNASE1L2_uc002cpq.3_5'Flank	NM_004424	NP_004415	Q66K89	E4F1_HUMAN	Homo sapiens E4F transcription factor 1 (E4F1), mRNA.	461	Interaction with BMI1.|Mediates interaction with CDKN2A.				cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						CAGGGCCGAGGCCGTTCGCCT	0.701000												
TRABD	80305	broad.mit.edu	37	22	50636522	50636522	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:50636522T>C	uc003bjs.1	+	8	968	c.863T>C	c.(862-864)gTc>gCc	p.V288A	TRABD_uc003bjr.2_Missense_Mutation_p.V172A|SELO_uc021wry.1_5'Flank	NM_025204	NP_079480	Q9H4I3	TRABD_HUMAN	Homo sapiens TraB domain containing (TRABD), mRNA.	288										breast(1)|central_nervous_system(1)|large_intestine(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	7		all_cancers(38;1.07e-07)|all_epithelial(38;9.6e-07)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		LUAD - Lung adenocarcinoma(64;0.105)		AGGAAGTGCGTCCCCTCCGTG	0.667000												
PTPN13	5783	broad.mit.edu	37	4	87622631	87622631	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:87622631A>G	uc003hpz.3	+	6	1352	c.872A>G	c.(871-873)gAt>gGt	p.D291G	PTPN13_uc003hpy.3_Missense_Mutation_p.D291G|PTPN13_uc003hqa.3_Missense_Mutation_p.D291G|PTPN13_uc003hqb.3_Missense_Mutation_p.D291G	NM_080683	NP_542414	Q12923	PTN13_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) (PTPN13), transcript variant 1, mRNA.	291						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		CCTGGCATTGATGTGCTTTCT	0.423000												
PPRC1	23082	broad.mit.edu	37	10	103899333	103899333	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:103899333C>T	uc001kum.3	+	4	1107	c.1068C>T	c.(1066-1068)ggC>ggT	p.G356G	PPRC1_uc001kun.3_Silent_p.G236G|PPRC1_uc010qqj.2_Silent_p.G356G|PPRC1_uc009xxa.3_Non-coding_Transcript	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator-related 1 (PPRC1), mRNA.	356					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|nucleotide 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)		CCACAGCTGGCGATGACCTGG	0.592000												
PLCB1	23236	broad.mit.edu	37	20	8703032	8703032	+	Silent	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:8703032T>C	uc002wnb.3	+	14	1548	c.1545T>C	c.(1543-1545)gaT>gaC	p.D515D	PLCB1_uc010zrb.1_Silent_p.D414D|PLCB1_uc002wna.3_Silent_p.D515D|PLCB1_uc002wnc.1_Silent_p.D414D|PLCB1_uc002wnd.1_Silent_p.D92D	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	515					CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						ACGACGACGATGATGATGATG	0.423000												
COG7	91949	broad.mit.edu	37	16	23421653	23421653	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:23421653G>A	uc002dlo.3	-	10	1635	c.1438C>T	c.(1438-1440)Cgg>Tgg	p.R480W		NM_153603	NP_705831	P83436	COG7_HUMAN	Homo sapiens component of oligomeric golgi complex 7 (COG7), mRNA.	480					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	p.R480Q(1)		breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		CCACAATGCCGCAAAAGCTCT	0.478000												
DOPEY1	23033	broad.mit.edu	37	6	83835317	83835317	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:83835317A>T	uc011dyy.2	+	14	1817	c.1557A>T	c.(1555-1557)gaA>gaT	p.E519D	DOPEY1_uc003pjs.1_Missense_Mutation_p.E528D|DOPEY1_uc010kbl.1_Missense_Mutation_p.E519D	NM_001199942	NP_001186871	Q5JWR5	DOP1_HUMAN	Homo sapiens dopey family member 1 (DOPEY1), transcript variant 2, mRNA.	528					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		ACTTATCTGAACTCACAGATT	0.468000												
SCEL	8796	broad.mit.edu	37	13	78130752	78130752	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:78130752G>T	uc001vki.3	+	2	235	c.65G>T	c.(64-66)gGa>gTa	p.G22V	SCEL_uc010thx.2_Missense_Mutation_p.G22V|SCEL_uc001vkj.3_Missense_Mutation_p.G22V	NM_144777	NP_659001	O95171	SCEL_HUMAN	Homo sapiens sciellin (SCEL), transcript variant 1, mRNA.	22					embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		ACCACTCAGGGAACCACACGG	0.423000												
BAI3	577	broad.mit.edu	37	6	70098714	70098714	+	Silent	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:70098714A>G	uc010kak.3	+	30	4776	c.4500A>G	c.(4498-4500)ccA>ccG	p.P1500P	BAI3_uc003pev.4_Silent_p.P1500P|BAI3_uc011dxx.2_Silent_p.P706P	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	1500					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AACTGAGGCCAGCAGAGTGGG	0.428000												
AGXT2L1	64850	broad.mit.edu	37	4	109681385	109681385	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:109681385T>C	uc003hzc.3	-	1	315	c.134A>G	c.(133-135)aAc>aGc	p.N45S	AGXT2L1_uc010imc.3_Missense_Mutation_p.N45S|AGXT2L1_uc011cfm.2_Missense_Mutation_p.N5S|AGXT2L1_uc011cfn.2_Intron|AGXT2L1_uc011cfo.2_Intron	NM_031279	NP_112569	Q8TBG4	AT2L1_HUMAN	Homo sapiens alanine-glyoxylate aminotransferase 2-like 1 (AGXT2L1), transcript variant 1, mRNA.	45					cellular amino acid metabolic process	mitochondrion	alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000281)		CTGTTCACCGTTCTCATCAAA	0.438000												
MYO5C	55930	broad.mit.edu	37	15	52571811	52571811	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:52571811C>T	uc010bff.3	-	2	361	c.199G>A	c.(199-201)Gtg>Atg	p.V67M	MYO5C_uc010uga.2_Non-coding_Transcript|MYO5C_uc010ugb.2_Non-coding_Transcript|MYO5C_uc010ugc.2_Missense_Mutation_p.V30M|MIR1266_uc021smp.1_5'Flank	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	Homo sapiens myosin VC (MYO5C), mRNA.	67	Myosin head-like.					myosin complex	ATP binding|actin binding|calmodulin binding|motor activity	p.L66L(1)		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)		TTCTCGCCCACGAGGATGTCA	0.468000												
TICAM1	148022	broad.mit.edu	37	19	4816588	4816588	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:4816588G>A	uc002mbi.3	-	1	2053	c.1802C>T	c.(1801-1803)gCg>gTg	p.A601V	TICAM1_uc021unj.1_Missense_Mutation_p.A601V	NM_182919	NP_891549	Q8IUC6	TCAM1_HUMAN	Homo sapiens toll-like receptor adaptor molecule 1 (TICAM1), mRNA.	601	Sufficient to induce apoptosis.				I-kappaB kinase/NF-kappaB cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|apoptosis|inflammatory response|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		CCCATAGGGCGCCCCAGTCCC	0.662000												
PROX1	5629	broad.mit.edu	37	1	214171117	214171117	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:214171117C>T	uc001hkh.3	+	1	1511	c.1239C>T	c.(1237-1239)ggC>ggT	p.G413G	PROX1_uc001hkg.1_Silent_p.G413G	NM_002763	NP_002754	Q92786	PROX1_HUMAN	Homo sapiens prospero homeobox 1 (PROX1), mRNA.	413					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of S phase of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		AGTGCTTTGGCGACGTCATCA	0.562000												
SASH1	23328	broad.mit.edu	37	6	148869651	148869651	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:148869651C>T	uc003qme.1	+	19	4176	c.3701C>T	c.(3700-3702)gCa>gTa	p.A1234V	SASH1_uc003qmf.1_Missense_Mutation_p.A644V	NM_015278	NP_056093	O94885	SASH1_HUMAN	Homo sapiens SAM and SH3 domain containing 1 (SASH1), mRNA.	1234	SAM 2.						protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		CTCCTATCTGCAGCCAGACTC	0.572000												
MBD2	8932	broad.mit.edu	37	18	51691025	51691025	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:51691025G>A	uc002lfg.2	-	4	1206	c.977C>T	c.(976-978)gCc>gTc	p.A326V		NM_003927	NP_003918	Q9UBB5	MBD2_HUMAN	Homo sapiens methyl-CpG binding domain protein 2 (MBD2), transcript variant 1, mRNA.	326					transcription, DNA-dependent		C2H2 zinc finger domain binding|methyl-CpG binding|satellite DNA binding			breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8				Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)	Hexobarbital(DB01355)	CAAAGCACTGGCAACAGCAGA	0.483000												
PDE6C	5146	broad.mit.edu	37	10	95399901	95399901	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:95399901C>T	uc001kiu.4	+	11	1695	c.1557C>T	c.(1555-1557)caC>caT	p.H519H		NM_006204	NP_006195	P51160	PDE6C_HUMAN	Homo sapiens phosphodiesterase 6C, cGMP-specific, cone, alpha prime (PDE6C), mRNA.	519					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				TTACAGAGCACGGATTGATTA	0.408000												
PREX1	57580	broad.mit.edu	37	20	47364404	47364404	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:47364404C>T	uc002xtw.1	-	1	256	c.233G>A	c.(232-234)cGc>cAc	p.R78H		NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA.	78	DH.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|enzyme binding|phospholipid binding	p.R78H(6)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CTGCCGGATGCGATGCAGGAA	0.592000												
STAT3	6774	broad.mit.edu	37	17	40489528	40489528	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:40489528G>T	uc002hzl.1	-	7	962	c.722C>A	c.(721-723)gCt>gAt	p.A241D	STAT3_uc002hzk.1_Missense_Mutation_p.A241D|STAT3_uc002hzm.1_Missense_Mutation_p.A241D|STAT3_uc010wgh.1_Missense_Mutation_p.A143D|STAT3_uc002hzn.1_Missense_Mutation_p.A241D	NM_139276	NP_644805	P40763	STAT3_HUMAN	Homo sapiens signal transducer and activator of transcription 3 (acute-phase response factor) (STAT3), transcript variant 1, mRNA.	241					JAK-STAT cascade involved in growth hormone signaling pathway|cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		CTTCCAGTCAGCCAGCTCCTC	0.527000									Hyperimmunoglobulin E Recurrent Infection Syndrome			
TLL2	7093	broad.mit.edu	37	10	98138803	98138803	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:98138803G>A	uc001kml.2	-	16	2482	c.2241C>T	c.(2239-2241)tgC>tgT	p.C747C		NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	Homo sapiens tolloid-like 2 (TLL2), mRNA.	747	EGF-like 2; calcium-binding (Potential).				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)		AGGTGTTGACGCACTCATGCT	0.552000												
EIF4ENIF1	56478	broad.mit.edu	37	22	31854475	31854475	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:31854475G>A	uc003akz.2	-	6	1147	c.949C>T	c.(949-951)Cca>Tca	p.P317S	EIF4ENIF1_uc003akx.2_5'Flank|EIF4ENIF1_uc003aky.2_5'Flank|EIF4ENIF1_uc003ala.2_Missense_Mutation_p.P317S|EIF4ENIF1_uc003alb.2_Missense_Mutation_p.P154S	NM_001164501	NP_062817	Q9NRA8	4ET_HUMAN	Homo sapiens eukaryotic translation initiation factor 4E nuclear import factor 1 (EIF4ENIF1), transcript variant 2, mRNA.	317						nucleus	protein binding|protein transporter activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GCCAAGCATGGCACCTTATCA	0.453000												
ZNF365	22891	broad.mit.edu	37	10	64136647	64136647	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:64136647T>C	uc001jmc.2	+	1	1010	c.695T>C	c.(694-696)cTg>cCg	p.L232P	ZNF365_uc001jly.4_Missense_Mutation_p.L247P|ZNF365_uc001jmb.4_Missense_Mutation_p.L232P|ZNF365_uc001jlz.4_Missense_Mutation_p.L232P|ZNF365_uc001jma.4_Intron	NM_199451	NP_955523	Q70YC4	TALAN_HUMAN	Homo sapiens zinc finger protein 365 (ZNF365), transcript variant C, mRNA.	0										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					ATAGCTGTACTGAGGCAACGC	0.517000												
ATR	545	broad.mit.edu	37	3	142266699	142266699	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:142266699C>T	uc003eux.4	-	15	3347	c.3225G>A	c.(3223-3225)ttG>ttA	p.L1075L		NM_001184	NP_001175	Q13535	ATR_HUMAN	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.	1075					DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						ATTCATTATGCAATCCTTGGA	0.343000								Other conserved DNA damage response genes				
HOXC6	3223	broad.mit.edu	37	12	54423569	54423569	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:54423569G>A	uc001sev.3	+	1	643	c.531G>A	c.(529-531)gcG>gcA	p.A177A	HOXC6_uc001ses.3_Silent_p.A95A|HOXC5_uc001set.3_Intron|HOXC4_uc001seu.3_Intron	NM_004503	NP_710160	P09630	HXC6_HUMAN	Homo sapiens homeobox C6 (HOXC6), transcript variant 1, mRNA.	177					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCGCCAACGCGCTTTGCCTGA	0.567000												
DOCK5	80005	broad.mit.edu	37	8	25232209	25232209	+	Silent	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:25232209A>G	uc003xeh.1	+	29	3303	c.2997A>G	c.(2995-2997)gtA>gtG	p.V999V	DOCK5_uc003xeg.3_Intron|DOCK5_uc003xek.3_Intron|DOCK5_uc003xei.3_Intron|DOCK5_uc003xej.3_Intron			Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	0						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		AGGGTGGAGTACAGTGTCCTT	0.403000												
BTBD17	388419	broad.mit.edu	37	17	72352858	72352858	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:72352858C>T	uc002jkn.2	-	2	1375	c.1375G>A	c.(1375-1377)Gcc>Acc	p.A459T		NM_001080466	NP_001073935	A6NE02	BTBDH_HUMAN	Homo sapiens BTB (POZ) domain containing 17 (BTBD17), mRNA.	459						extracellular region				endometrium(1)|kidney(1)|lung(4)	6						AGGTGCAGGGCGTTCTCAACC	0.647000												
ST6GAL1	6480	broad.mit.edu	37	3	186761061	186761061	+	Silent	SNP	G	G	A	rs141692826		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:186761061G>A	uc003frb.3	+	3	1203	c.570G>A	c.(568-570)gcG>gcA	p.A190A	ST6GAL1_uc003frc.3_Intron|ST6GAL1_uc003frd.3_Silent_p.A190A	NM_173216	NP_775323	P15907	SIAT1_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 1 (ST6GAL1), transcript variant 1, mRNA.	190					humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|extracellular region|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.A190A(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		TGTCGTCAGCGGGATCTCTGA	0.522000												
SLIT2	9353	broad.mit.edu	37	4	20570602	20570602	+	Silent	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:20570602A>G	uc003gpr.1	+	28	3267	c.3063A>G	c.(3061-3063)acA>acG	p.T1021T	SLIT2_uc003gps.1_Silent_p.T1013T	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	1021	EGF-like 3; calcium-binding (Potential).				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						ATAACTACACATGCCTTTGCC	0.333000												
EIF3I	8668	broad.mit.edu	37	1	32690021	32690021	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:32690021G>A	uc001bur.4	+	4	728	c.195G>A	c.(193-195)aaG>aaA	p.K65K	TMEM234_uc001buo.3_5'Flank|TMEM234_uc001bup.3_5'Flank|TMEM234_uc009vub.1_5'Flank|TMEM234_uc010oha.2_5'Flank|TMEM234_uc001buq.4_5'Flank|EIF3I_uc009vuc.3_Silent_p.K65K	NM_003757	NP_003748	Q13347	EIF3I_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit I (EIF3I), mRNA.	65						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)				GGGACACCAAGCATGTCCTCA	0.488000												
C17orf97	400566	broad.mit.edu	37	17	263122	263122	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:263122C>T	uc021tna.1	+	1	504	c.488C>T	c.(487-489)gCg>gTg	p.A163V	C17orf97_uc010vpz.1_5'Flank	NM_001013672	NP_001013694	Q6ZQX7	CQ097_HUMAN	Homo sapiens chromosome 17 open reading frame 97 (C17orf97), mRNA.	163										breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						GAGAACCTTGCGAATCGGATC	0.512000												
KDM4A	9682	broad.mit.edu	37	1	44137305	44137305	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:44137305G>A	uc001cjx.3	+	10	1659	c.1493G>A	c.(1492-1494)cGc>cAc	p.R498H	KDM4A_uc010oki.2_Intron	NM_014663	NP_055478	O75164	KDM4A_HUMAN	Homo sapiens lysine (K)-specific demethylase 4A (KDM4A), mRNA.	498					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						GTAGGGGGACGCCTTGTCTTC	0.478000												
MYH13	8735	broad.mit.edu	37	17	10231321	10231321	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:10231321C>A	uc002gmk.1	-	21	2643	c.2553G>T	c.(2551-2553)aaG>aaT	p.K851N		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	851					muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TGGCCATCTCCTTCTCGGCCT	0.537000											OREG0024177	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
COL5A3	50509	broad.mit.edu	37	19	10073525	10073525	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:10073525G>A	uc002mmq.1	-	64	4907	c.4821C>T	c.(4819-4821)ggC>ggT	p.G1607G		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	1607	Fibrillar collagen NC1.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	p.G1607G(2)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TGCTATACCAGCCTCCAGGCT	0.547000												
EME2	197342	broad.mit.edu	37	16	1825067	1825067	+	Missense_Mutation	SNP	C	C	T	rs148313225	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:1825067C>T	uc002cmq.1	+	3	503	c.503C>T	c.(502-504)cCc>cTc	p.P168L	MRPS34_uc002cmo.3_5'Flank|MRPS34_uc021taj.1_5'Flank|EME2_uc010brw.1_Missense_Mutation_p.P168L	NM_001010865	NP_001010865	A4GXA9	EME2_HUMAN	Homo sapiens essential meiotic endonuclease 1 homolog 2 (S. pombe) (EME2), mRNA.	168					DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						CACTGGGTGCCCTGGATCTCC	0.647000								Direct reversal of damage;Homologous recombination				
PCID2	55795	broad.mit.edu	37	13	113850537	113850537	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:113850537G>A	uc021rmt.1	-	4	509	c.428C>T	c.(427-429)aCa>aTa	p.T143I	PCID2_uc021rmq.1_Splice_Site_p.Q89_splice|PCID2_uc021rmr.1_Splice_Site_p.Q89_splice|PCID2_uc021rms.1_Splice_Site_p.Q89_splice	NM_018386	NP_060856	Q5JVF3	PCID2_HUMAN	Homo sapiens PCI domain containing 2 (PCID2), transcript variant 3, mRNA.	89					negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			CAAGAATGATGTACTGTATTA	0.338000												
FAM124A	220108	broad.mit.edu	37	13	51855296	51855296	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:51855296C>T	uc001vff.2	+	4	1821	c.1653C>T	c.(1651-1653)tgC>tgT	p.C551C	FAM124A_uc001vfg.2_Silent_p.C515C	NM_145019	NP_659456	Q86V42	F124A_HUMAN	Homo sapiens family with sequence similarity 124A (FAM124A), transcript variant 1, mRNA.	515								p.C551C(4)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		AGCTCCCATGCGATACCCCCA	0.597000												
FASN	2194	broad.mit.edu	37	17	80037254	80037254	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:80037254G>A	uc002kdu.3	-	41	7494	c.7377C>T	c.(7375-7377)ggC>ggT	p.G2459G	FASN_uc002kdv.1_Non-coding_Transcript	NM_004104	NP_004095	P49327	FAS_HUMAN	Homo sapiens fatty acid synthase (FASN), mRNA.	2459	Thioesterase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	Golgi apparatus|cytosol|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	TGTAGTCCGCGCCCAGGTCCT	0.662000												
ZNF639	51193	broad.mit.edu	37	3	179052028	179052028	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:179052028T>G	uc003fjr.1	+	6	1721	c.1276T>G	c.(1276-1278)Tta>Gta	p.L426V	ZNF639_uc003fjq.1_Missense_Mutation_p.L426V	NM_016331	NP_057415	Q9UID6	ZN639_HUMAN	Homo sapiens zinc finger protein 639 (ZNF639), mRNA.	426	Interaction with CTNNA2.				initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent	nucleus	protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1)	16	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			AAATTCACATTTATCTGAAGG	0.313000												
SLC7A3	84889	broad.mit.edu	37	X	70149776	70149776	+	Silent	SNP	A	A	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:70149776A>C	uc004dyn.3	-	1	246	c.72T>G	c.(70-72)gcT>gcG	p.A24A	SLC7A3_uc004dyo.3_Silent_p.A24A	NM_032803	NP_116192	Q8WY07	CTR3_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 (SLC7A3), transcript variant 1, mRNA.	24					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GGCGAGTCTCAGCCATGCCTG	0.557000												
IDS	3423	broad.mit.edu	37	X	148564576	148564576	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:148564576A>G	uc011mxe.2	-	8	1571	c.1354T>C	c.(1354-1356)Tac>Cac	p.Y452H	IDS_uc011mxd.2_Missense_Mutation_p.Y55H|IDS_uc011mxf.2_Missense_Mutation_p.Y362H|IDS_uc011mxg.2_Missense_Mutation_p.Y241H|IDS_uc010nsu.2_Missense_Mutation_p.Y62H|IDS_uc004fcw.4_Missense_Mutation_p.Y241H	NM_000202	NP_000193	P22304	IDS_HUMAN	Homo sapiens iduronate 2-sulfatase (IDS), transcript variant 1, mRNA.	452						lysosome	iduronate-2-sulfatase activity|metal ion binding	p.P451L(1)		NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CCAGGGAGGTACGGATCCTCT	0.502000												
GBP7	388646	broad.mit.edu	37	1	89630432	89630432	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:89630432G>A	uc001dna.2	-	2	439	c.300C>T	c.(298-300)ggC>ggT	p.G100G		NM_207398	NP_997281	Q8N8V2	GBP7_HUMAN	Homo sapiens guanylate binding protein 7 (GBP7), mRNA.	100						integral to membrane	GTP binding|GTPase activity	p.E99D(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		TATCACCCAGGCCCTCCGTGT	0.453000												
LANCL2	55915	broad.mit.edu	37	7	55479775	55479775	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:55479775C>T	uc003tqp.3	+	5	1579	c.1001C>T	c.(1000-1002)gCg>gTg	p.A334V		NM_018697	NP_061167	Q9NS86	LANC2_HUMAN	Homo sapiens LanC lantibiotic synthetase component C-like 2 (bacterial) (LANCL2), mRNA.	334					negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway	cortical actin cytoskeleton|cytosol|nucleus|plasma membrane	ATP binding|GTP binding|catalytic activity|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			CTCATGCAGGCGTACAAGGTC	0.577000												
EP300	2033	broad.mit.edu	37	22	41489028	41489028	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:41489028A>G	uc003azl.4	+	0	415	c.20A>G	c.(19-21)gAa>gGa	p.E7G		NM_001429	NP_001420	Q09472	EP300_HUMAN	Homo sapiens E1A binding protein p300 (EP300), mRNA.	7	Interaction with ALX1.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|N-terminal peptidyl-lysine acetylation|apoptosis|cell cycle|histone H4 acetylation|interspecies interaction between organisms|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	DNA binding|RNA polymerase II activating transcription factor binding|androgen receptor binding|beta-catenin binding|histone acetyltransferase activity|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						AATGTGGTGGAACCGGGGCCG	0.607000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome			
COL4A1	1282	broad.mit.edu	37	13	110827668	110827668	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:110827668C>T	uc001vqw.4	-	36	3217	c.3095G>A	c.(3094-3096)gGc>gAc	p.G1032D		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	1032	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			ACCTTGTGGGCCAGGGATGCC	0.502000												
FAM101A	144347	broad.mit.edu	37	12	124798908	124798908	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:124798908G>A	uc021rfy.1	+	4	751	c.245G>A	c.(244-246)cGc>cAc	p.R82H	FAM101A_uc001ugd.2_Missense_Mutation_p.R82H|FAM101A_uc001uge.2_Missense_Mutation_p.R82H	NM_001204299	NP_001191228	Q6ZTI6	F101A_HUMAN	Homo sapiens protein FAM101A (ZNF664-FAM101A), mRNA.	163										endometrium(1)|kidney(1)|lung(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059)		CGCGCCCTGCGCTTCCGCAGC	0.687000												
HEATR2	54919	broad.mit.edu	37	7	803547	803547	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:803547G>A	uc010krz.1	+	7	1739	c.1719G>A	c.(1717-1719)tcG>tcA	p.S573S	HEATR2_uc003siz.2_Silent_p.S441S|HEATR2_uc003sja.3_Silent_p.S31S	NM_017802	NP_060272	Q86Y56	HEAT2_HUMAN	Homo sapiens HEAT repeat containing 2 (HEATR2), mRNA.	573							protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		TGACCGCGTCGCACCTTGACT	0.652000												
MET	4233	broad.mit.edu	37	7	116340097	116340097	+	Missense_Mutation	SNP	C	C	T	rs35776110	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:116340097C>T	uc003vij.3	+	1	1146	c.959C>T	c.(958-960)gCg>gTg	p.A320V	MET_uc022akk.1_Missense_Mutation_p.A320V|MET_uc010lkh.3_Missense_Mutation_p.A320V|MET_uc011knc.1_Missense_Mutation_p.A320V|MET_uc011knd.2_Missense_Mutation_p.A320V|MET_uc011knf.2_Missense_Mutation_p.A320V|MET_uc011kne.2_Missense_Mutation_p.A320V|MET_uc011kng.1_Missense_Mutation_p.A320V|MET_uc011knh.1_Missense_Mutation_p.A320V|MET_uc011kni.2_Missense_Mutation_p.A320V|MET_uc003vii.1_Missense_Mutation_p.A339V|MET_uc010lkg.3_Missense_Mutation_p.A320V|MET_uc011kmz.1_Missense_Mutation_p.A320V|MET_uc011kna.1_Missense_Mutation_p.A320V|MET_uc011knb.1_Missense_Mutation_p.A320V	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	320	Sema.		A -> V (in dbSNP:rs35776110).		axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CTTCAGGCTGCGTATGTCAGC	0.453000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)			
MALT1	10892	broad.mit.edu	37	18	56412961	56412961	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:56412961G>A	uc002lhm.1	+	15	2233	c.1975G>A	c.(1975-1977)Gta>Ata	p.V659I	MALT1_uc002lhn.1_Missense_Mutation_p.V648I	NM_006785	NP_006776	Q9UDY8	MALT1_HUMAN	Homo sapiens mucosa associated lymphoid tissue lymphoma translocation gene 1 (MALT1), transcript variant 1, mRNA.	659					T cell receptor signaling pathway|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|positive regulation of interleukin-2 production|positive regulation of phosphorylation|positive regulation of protein ubiquitination|protein oligomerization|proteolysis	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						CAGCTACTTGGTATCAAAGGA	0.348000			T	BIRC3	MALT							
ME2	4200	broad.mit.edu	37	18	48458685	48458685	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:48458685C>T	uc002ley.3	+	12	1631	c.1372C>T	c.(1372-1374)Cga>Tga	p.R458*	ME2_uc010dpd.3_Nonsense_Mutation_p.R458*	NM_002396	NP_002387	P23368	MAOM_HUMAN	Homo sapiens malic enzyme 2, NAD(+)-dependent, mitochondrial (ME2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	458					malate metabolic process	mitochondrial matrix	NAD binding|electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	NADH(DB00157)	TACAGATGGGCGAGTCTTTAC	0.343000												
FLYWCH1	84256	broad.mit.edu	37	16	2988353	2988353	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:2988353G>A	uc002csd.3	+	7	2309	c.1946G>A	c.(1945-1947)cGc>cAc	p.R649H	FLYWCH1_uc002csb.3_Missense_Mutation_p.R648H|FLYWCH1_uc002csc.3_Missense_Mutation_p.R648H|FLYWCH1_uc010bsv.3_Missense_Mutation_p.R373H|FLYWCH1_uc002cse.3_Missense_Mutation_p.R104H	NM_032296	NP_115672	Q4VC44	FWCH1_HUMAN	Homo sapiens FLYWCH-type zinc finger 1 (FLYWCH1), transcript variant 1, mRNA.	649						nucleus	DNA binding|metal ion binding			kidney(1)|lung(3)	4						CAGGGCCACCGCATCATGGTC	0.682000												
LRRC49	54839	broad.mit.edu	37	15	71305222	71305222	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:71305222A>G	uc010ukf.2	+	13	1994	c.1688A>G	c.(1687-1689)tAt>tGt	p.Y563C	LRRC49_uc002asu.3_Missense_Mutation_p.Y548C|LRRC49_uc002asx.3_Missense_Mutation_p.Y514C|LRRC49_uc002asw.3_Missense_Mutation_p.Y558C|LRRC49_uc002asy.3_Missense_Mutation_p.Y264C|LRRC49_uc002asz.3_Missense_Mutation_p.Y530C	NM_001199017	NP_001185946	Q8IUZ0	LRC49_HUMAN	Homo sapiens leucine rich repeat containing 49 (LRRC49), transcript variant 1, mRNA.	558						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						TTACCCCAGTATCGTCTGATT	0.363000												
HTRA4	203100	broad.mit.edu	37	8	38839212	38839212	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:38839212A>G	uc003xmj.3	+	5	1155	c.1040A>G	c.(1039-1041)gAt>gGt	p.D347G		NM_153692	NP_710159	P83105	HTRA4_HUMAN	Homo sapiens HtrA serine peptidase 4 (HTRA4), mRNA.	347	Serine protease.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			AGGGTGACTGATGGAATCTCC	0.438000												
MYBL2	4605	broad.mit.edu	37	20	42338670	42338670	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:42338670G>A	uc002xlb.1	+	9	1788	c.1573G>A	c.(1573-1575)Gcc>Acc	p.A525T	MYBL2_uc010zwj.1_Missense_Mutation_p.A501T	NM_002466	NP_002457	P10244	MYBB_HUMAN	Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian)-like 2 (MYBL2), mRNA.	525						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GTTCAAGAACGCCCTGGAGAA	0.582000												
AHNAK	79026	broad.mit.edu	37	11	62293096	62293096	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:62293096G>A	uc001ntl.3	-	4	9093	c.8793C>T	c.(8791-8793)gaC>gaT	p.D2931D	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	2931					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)				GGCCTTCAACGTCCACTTTGG	0.517000												
RSRC1	51319	broad.mit.edu	37	3	157920883	157920883	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:157920883C>T	uc003fbt.3	+	3	454	c.343C>T	c.(343-345)Cgt>Tgt	p.R115C	RSRC1_uc011bou.1_Intron|RSRC1_uc003fbu.1_Missense_Mutation_p.R115C|RSRC1_uc003fbv.3_Intron	NM_016625	NP_057709	Q96IZ7	RSRC1_HUMAN	Homo sapiens arginine/serine-rich coiled-coil 1 (RSRC1), mRNA.	115	Arg/Ser-rich.				nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			ACCTCGTCTCCGTTCTCATAG	0.398000												
ANLN	54443	broad.mit.edu	37	7	36447449	36447449	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:36447449C>T	uc003tff.3	+	4	1184	c.980C>T	c.(979-981)aCg>aTg	p.T327M	ANLN_uc011kaz.2_Missense_Mutation_p.T239M|ANLN_uc003tfg.3_Missense_Mutation_p.T327M|ANLN_uc010kxe.3_Missense_Mutation_p.T327M	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN	Homo sapiens anillin, actin binding protein (ANLN), mRNA.	327	Interaction with F-actin.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						CCTCTGAAAACGGGGGTATCG	0.393000												
MEIS2	4212	broad.mit.edu	37	15	37184485	37184485	+	Silent	SNP	G	G	A	rs139991974		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:37184485G>A	uc001zjr.3	-	11	2397	c.1323C>T	c.(1321-1323)caC>caT	p.H441H	MEIS2_uc001zjl.3_3'UTR|MEIS2_uc010ucj.2_Silent_p.H421H|MEIS2_uc001zjm.3_3'UTR|MEIS2_uc001zjn.3_3'UTR|MEIS2_uc001zjo.3_3'UTR|MEIS2_uc001zjp.3_3'UTR|MEIS2_uc001zjs.3_Silent_p.H434H|MEIS2_uc001zju.3_3'UTR|MEIS2_uc001zjt.3_Silent_p.H434H|MEIS2_uc001zjj.3_Silent_p.H137H|MEIS2_uc001zjk.3_Silent_p.H130H	NM_170675	NP_733775	O14770	MEIS2_HUMAN	Homo sapiens Meis homeobox 2 (MEIS2), transcript variant c, mRNA.	441					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.H441H(2)|p.H441Q(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		GGGGTCCTCCGTGCATCATCA	0.522000												
TRRAP	8295	broad.mit.edu	37	7	98519385	98519385	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:98519385C>T	uc003upp.3	+	20	2841	c.2632C>T	c.(2632-2634)Cgc>Tgc	p.R878C	TRRAP_uc011kis.2_Missense_Mutation_p.R878C|TRRAP_uc003upr.3_Missense_Mutation_p.R570C	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	878			R -> L (in dbSNP:rs17161510).		histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GGCTCTGTGGCGCACCTTACG	0.532000												
MAP1LC3A	84557	broad.mit.edu	37	20	33147564	33147564	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:33147564G>A	uc002xaq.1	+	3	382	c.228G>A	c.(226-228)acG>acA	p.T76T	MAP1LC3A_uc002xap.1_Silent_p.T80T	NM_032514	NP_115903	Q9H492	MLP3A_HUMAN	Homo sapiens microtubule-associated protein 1 light chain 3 alpha (MAP1LC3A), transcript variant 1, mRNA.	76					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|cytosol|endomembrane system|microtubule	phosphatidylethanolamine binding|protein binding			cervix(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(2)	5						TGAACCCCACGCAGGCCTTCT	0.632000												
MAST4	375449	broad.mit.edu	37	5	66460439	66460439	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:66460439C>T	uc021xzk.1	+	28	5740	c.5432C>T	c.(5431-5433)tCc>tTc	p.S1811F	MAST4_uc003jut.2_Missense_Mutation_p.S1622F|MAST4_uc003juw.3_Missense_Mutation_p.S1550F|MAST4_uc003jux.3_5'Flank	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	1814						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GCTCTCCTGTCCGGACCTCAG	0.602000												
EGFR	1956	broad.mit.edu	37	7	55221829	55221829	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:55221829C>T	uc003tqk.3	+	6	1119	c.873C>T	c.(871-873)tgC>tgT	p.C291C	EGFR_uc003tqh.3_Silent_p.C291C|EGFR_uc003tqi.3_Silent_p.C291C|EGFR_uc003tqj.3_Silent_p.C291C|EGFR_uc022adm.1_Silent_p.C291C|EGFR_uc010kzg.2_Silent_p.C246C|EGFR_uc022adn.1_Silent_p.C246C|EGFR_uc011kco.2_Silent_p.C238C|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	291					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GTGCCACCTGCGTGAAGAAGT	0.592000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
IQSEC2	23096	broad.mit.edu	37	X	53280263	53280263	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:53280263G>A	uc004dsd.3	-	4	1696	c.1495C>T	c.(1495-1497)Cgg>Tgg	p.R499W	IQSEC2_uc004dsc.3_Missense_Mutation_p.R294W|IQSEC2_uc022bxf.1_Missense_Mutation_p.R262W	NM_001111125	NP_001104595	Q5JU85	IQEC2_HUMAN	Homo sapiens IQ motif and Sec7 domain 2 (IQSEC2), transcript variant 1, mRNA.	489					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						TTTGACTCCCGCTTCTCCAGC	0.572000												
PKP4	8502	broad.mit.edu	37	2	159477502	159477502	+	Splice_Site	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:159477502A>G	uc002tzv.3	+	5	541	c.281_splice	c.e5-1	p.D94_splice	PKP4_uc002tzt.1_Splice_Site|PKP4_uc002tzu.3_Splice_Site_p.D94_splice|PKP4_uc002tzw.3_Splice_Site_p.D94_splice|PKP4_uc002tzx.3_Splice_Site|PKP4_uc002tzy.1_Splice_Site|PKP4_uc002tzz.1_Splice_Site_p.D94_splice|PKP4_uc002uaa.3_Splice_Site	NM_003628	NP_003619	Q99569	PKP4_HUMAN	Homo sapiens plakophilin 4 (PKP4), transcript variant 1, mRNA.	94					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						CTTGTTACAGACGTGCCAAAT	0.368000										HNSCC(62;0.18)		
PTCHD3	374308	broad.mit.edu	37	10	27702400	27702400	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:27702400C>T	uc001itu.2	-	0	898	c.780G>A	c.(778-780)gcG>gcA	p.A260A		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	260					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GCACGCAGAGCGCCCTGTACC	0.632000												
SIPA1L1	26037	broad.mit.edu	37	14	72191399	72191399	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:72191399C>T	uc001xms.3	+	16	4885	c.4524C>T	c.(4522-4524)agC>agT	p.S1508S	SIPA1L1_uc001xmt.3_Silent_p.S1487S|SIPA1L1_uc001xmu.3_Silent_p.S1487S|SIPA1L1_uc001xmv.3_Silent_p.S1508S|SIPA1L1_uc010ttm.2_Silent_p.S962S	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	1508					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GTCATCAGAGCGATGGCAATG	0.493000												
SLCO4A1	28231	broad.mit.edu	37	20	61297900	61297900	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:61297900C>T	uc002ydb.1	+	6	1650	c.1445C>T	c.(1444-1446)gCg>gTg	p.A482V	LOC100127888_uc002ydd.3_Non-coding_Transcript|SLCO4A1_uc002yde.1_5'Flank	NM_016354	NP_057438	Q96BD0	SO4A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 4A1 (SLCO4A1), mRNA.	482					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	p.A482V(2)		endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			GTGCCCATGGCGGGCGTCACA	0.677000												
HEPACAM2	253012	broad.mit.edu	37	7	92848701	92848701	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:92848701G>A	uc011khy.2	-	2	235	c.212C>T	c.(211-213)gCc>gTc	p.A71V	HEPACAM2_uc003uml.3_Missense_Mutation_p.A36V|HEPACAM2_uc010lff.3_Missense_Mutation_p.A36V|HEPACAM2_uc003umm.3_Missense_Mutation_p.A48V	NM_198151	NP_937794	A8MVW5	HECA2_HUMAN	Homo sapiens HEPACAM family member 2 (HEPACAM2), transcript variant 2, mRNA.	48						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						TAGGTAGAGGGCCTGACCTCT	0.517000												
DHRS7C	201140	broad.mit.edu	37	17	9674988	9674988	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:9674988G>A	uc010vvb.2	-	5	769	c.756C>T	c.(754-756)ggC>ggT	p.G252G	DHRS7C_uc010cof.3_Silent_p.G251G	NM_001220493	NP_001207422	A6NNS2	DRS7C_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 7C (DHRS7C), transcript variant 1, mRNA.	252						extracellular region	binding|oxidoreductase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						CTGGGTGCACGCCGTAGGTCA	0.627000												
C15orf33	196951	broad.mit.edu	37	15	49903459	49903459	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:49903459G>A	uc001zxl.2	-	2	352	c.58C>T	c.(58-60)Caa>Taa	p.Q20*	C15orf33_uc001zxm.3_Nonsense_Mutation_p.Q20*	NM_152647	NP_689860	Q96M60	CO033_HUMAN	Homo sapiens chromosome 15 open reading frame 33 (C15orf33), mRNA.	20								p.Q20H(1)		endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	25		all_lung(180;0.00187)		all cancers(107;3.45e-08)|GBM - Glioblastoma multiforme(94;0.000124)		GGAGGTTCTTGCATTTTCTAA	0.259000												
OR4A15	81328	broad.mit.edu	37	11	55136066	55136066	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:55136066C>T	uc010rif.2	+	0	707	c.707C>T	c.(706-708)gCt>gTt	p.A236V		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA.	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C235F(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						GCGATTTGTGCTGTCACCTTC	0.428000												
MUC17	140453	broad.mit.edu	37	7	100679587	100679587	+	Silent	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:100679587T>C	uc003uxp.1	+	2	4943	c.4890T>C	c.(4888-4890)agT>agC	p.S1630S	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1630	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GTGAAGGAAGTCCTCTATTAA	0.493000												
DAB2IP	153090	broad.mit.edu	37	9	124522353	124522353	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:124522353C>T	uc004bln.3	+	5	790	c.721C>T	c.(721-723)Cgc>Tgc	p.R241C	DAB2IP_uc004blo.3_Missense_Mutation_p.R145C	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	Homo sapiens DAB2 interacting protein (DAB2IP), transcript variant 1, mRNA.	269	C2.				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|Ras GTPase activator activity|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						GCCGCCTCTGCGCACGGTCAC	0.602000												
SACS	26278	broad.mit.edu	37	13	23906034	23906034	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:23906034G>A	uc001uon.2	-	9	12570	c.11981C>T	c.(11980-11982)gCg>gTg	p.A3994V	SACS_uc001uoo.2_Missense_Mutation_p.A3847V|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	3994					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AGAACACAACGCTCCAAACTG	0.353000												
HS3ST5	222537	broad.mit.edu	37	6	114379185	114379185	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:114379185C>T	uc003pwg.4	-	1	309	c.277G>A	c.(277-279)Gcc>Acc	p.A93T	BC042098_uc003pwf.3_Intron|HS3ST5_uc003pwh.4_Missense_Mutation_p.A93T	NM_153612	NP_705840	Q8IZT8	HS3S5_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 5 (HS3ST5), mRNA.	93					heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		ATGATAATGGCCTTGGGGAGC	0.557000												
EIF2C2	27161	broad.mit.edu	37	8	141570572	141570572	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:141570572C>T	uc003yvn.3	-	4	597	c.556G>A	c.(556-558)Gaa>Aaa	p.E186K	EIF2C2_uc010meo.3_Missense_Mutation_p.E186K|EIF2C2_uc010men.3_Missense_Mutation_p.E109K	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 2 (EIF2C2), transcript variant 1, mRNA.	186					mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|mRNA cap binding complex|micro-ribonucleoprotein complex|nucleus|polysome	RNA 7-methylguanosine cap binding|endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|siRNA binding|translation initiation factor activity			NS(1)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	33	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)			GAGCAGCCTTCGGACGCGGTG	0.597000												
FABP7	2173	broad.mit.edu	37	6	123104893	123104893	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:123104893G>A	uc003pzf.3	+	3	674	c.380G>A	c.(379-381)cGc>cAc	p.R127H	FABP7_uc003pze.1_3'UTR	NM_001446	NP_001437	O15540	FABP7_HUMAN	Homo sapiens fatty acid binding protein 7, brain (FABP7), mRNA.	127	Fatty acid binding.				negative regulation of cell proliferation	cytoplasm	lipid binding|transporter activity	p.R127H(2)		kidney(1)|large_intestine(1)|lung(2)|stomach(1)	5				GBM - Glioblastoma multiforme(226;0.226)	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)|gamma-Homolinolenic acid(DB00154)	GTTGCTGTTCGCCACTATGAG	0.403000												
NPHP1	4867	broad.mit.edu	37	2	110927445	110927445	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:110927445C>T	uc002tfn.4	-	4	554	c.460G>A	c.(460-462)Ggt>Agt	p.G154S	NPHP1_uc002tfm.4_Missense_Mutation_p.G154S|NPHP1_uc002tfl.4_Missense_Mutation_p.G154S|NPHP1_uc002tfo.4_Missense_Mutation_p.G92S|NPHP1_uc010ywx.2_Missense_Mutation_p.G154S|NPHP1_uc010fjv.1_Missense_Mutation_p.G154S	NM_207181	NP_997064	O15259	NPHP1_HUMAN	Homo sapiens nephronophthisis 1 (juvenile) (NPHP1), transcript variant 2, mRNA.	154	SH3.				actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						TATTCTTCACCGGTTGACCAT	0.423000												
HMGA2	8091	broad.mit.edu	37	12	66308662	66308662	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:66308662C>T	uc001ssu.1	+	3	1223	c.412C>T	c.(412-414)Cca>Tca	p.P138S	HMGA2_uc001ssw.1_Intron|HMGA2_uc001ssx.3_Intron|HMGA2_uc001ssv.3_Intron	NM_003483	NP_003474	P52926	HMGA2_HUMAN	Homo sapiens high mobility group AT-hook 2 (HMGA2), transcript variant 1, mRNA.	0					cell division|chromatin organization|mitosis|multicellular organismal development|regulation of growth|transcription, DNA-dependent	chromatin	AT DNA binding		HMGA2/RAD51B(11)|HMGA2/CCNB1IP1(2)|HMGA2/WIF1_ENST00000286574(14)|HMGA2/ALDH2_ENST00000261733(2)|HMGA2/EBF1(2)|HMGA2/LHFP(2)|HMGA2/NFIB_ENST00000397581(8)|HMGA2/LPP(161)|HMGA2/FHIT_ENST00000476844(4)|HMGA2/COX6C(2)	lung(2)	2	all_cancers(1;5.78e-46)		GBM - Glioblastoma multiforme(1;0.00179)|LUSC - Lung squamous cell carcinoma(43;0.156)	GBM - Glioblastoma multiforme(28;0.0386)		accatgttggccaggctggtc	0.527000			T	""" LHFP, RAD51L1, LPP, COX6C, CMKOR1, NFIB, ALDH2, CCNB1IP1, EBF1, WIF1, FHIT"""	"""lipoma, leiomyoma, pleiomorphic salivary gland adenoma"""							
SLC2A1	6513	broad.mit.edu	37	1	43396803	43396803	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:43396803C>T	uc001cik.2	-	2	714	c.189G>A	c.(187-189)acG>acA	p.T63T		NM_006516	NP_006507	P11166	GTR1_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 1 (SLC2A1), mRNA.	63					carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	GGGACCAGAGCGTGGTGAGCG	0.587000											OREG0013425	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
LRRFIP2	9209	broad.mit.edu	37	3	37095348	37095348	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:37095348C>T	uc003cgp.2	-	28	2583	c.2160G>A	c.(2158-2160)caG>caA	p.Q720Q	MLH1_uc011aye.2_Intron|LRRFIP2_uc011ayf.1_Silent_p.Q502Q|LRRFIP2_uc003cgs.3_Silent_p.Q423Q|LRRFIP2_uc003cgt.3_Silent_p.Q399Q	NM_006309	NP_006300	Q9Y608	LRRF2_HUMAN	Homo sapiens leucine rich repeat (in FLII) interacting protein 2 (LRRFIP2), transcript variant 1, mRNA.	720					Wnt receptor signaling pathway		LRR domain binding	p.0?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						TTTCCTACTGCTGGGCCAGAA	0.522000												
AHNAK	79026	broad.mit.edu	37	11	62294104	62294104	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:62294104G>A	uc001ntl.3	-	4	8085	c.7785C>T	c.(7783-7785)ggC>ggT	p.G2595G	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	2595					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)				CATCCACATCGCCCTTCACCT	0.502000												
GPR126	57211	broad.mit.edu	37	6	142758632	142758632	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:142758632G>A	uc010khe.3	+	22	3792	c.3381G>A	c.(3379-3381)caG>caA	p.Q1127Q	GPR126_uc010khc.3_Silent_p.Q1127Q|GPR126_uc010khd.3_Silent_p.Q1099Q|GPR126_uc010khf.3_Silent_p.Q1099Q|GPR126_uc011edv.2_Silent_p.Q187Q	NM_198569	NP_940971	Q86SQ4	GP126_HUMAN	Homo sapiens G protein-coupled receptor 126 (GPR126), transcript variant b1, mRNA.	1127			Q -> R (in dbSNP:rs1262686).		neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		AGTGGCGGCAGCATCTCTGCT	0.363000												
OR51Q1	390061	broad.mit.edu	37	11	5444163	5444163	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:5444163T>A	uc010qzd.2	+	0	823	c.733T>A	c.(733-735)Tcc>Acc	p.S245T	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004757	NP_001004757	Q8NH59	O51Q1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily Q, member 1 (OR51Q1), mRNA.	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAACTGCCTGTCCCACATTCT	0.493000												
WDR62	284403	broad.mit.edu	37	19	36583697	36583697	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:36583697C>T	uc002odd.2	+	18	2408	c.2317C>T	c.(2317-2319)Cgg>Tgg	p.R773W	WDR62_uc002odc.2_Missense_Mutation_p.R773W	NM_001083961	NP_001077430	O43379	WDR62_HUMAN	Homo sapiens WD repeat domain 62 (WDR62), transcript variant 1, mRNA.	773					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TGACAAGAAGCGGAGTGGCCA	0.627000												
BTBD7	55727	broad.mit.edu	37	14	93708973	93708973	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:93708973C>T	uc001ybo.3	-	10	3371	c.3045G>A	c.(3043-3045)ggG>ggA	p.G1015G	BTBD7_uc010aur.3_Silent_p.G540G|BTBD7_uc010two.2_Silent_p.G835G|BTBD7_uc001ybp.3_Silent_p.G664G	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	Homo sapiens BTB (POZ) domain containing 7 (BTBD7), transcript variant 1, mRNA.	1015										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		TGTGTAGATGCCCGTCAGGGG	0.498000												
LHX6	26468	broad.mit.edu	37	9	124975917	124975917	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:124975917G>A	uc004blx.4	-	7	1094	c.1022C>T	c.(1021-1023)gCg>gTg	p.A341V	LHX6_uc022bmw.1_Missense_Mutation_p.A125V|LHX6_uc010mvw.3_Missense_Mutation_p.A312V|LHX6_uc022bmx.1_Missense_Mutation_p.A330V|LHX6_uc004bly.4_Missense_Mutation_p.A341V	NM_014368	NP_055183	Q9UPM6	LHX6_HUMAN	Homo sapiens LIM homeobox 6 (LHX6), transcript variant 1, mRNA.	312					cell maturation|cerebral cortex GABAergic interneuron migration|cerebral cortex radially oriented cell migration|cerebral cortex tangential migration	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A341V(3)		endometrium(2)|kidney(1)|large_intestine(5)	8						GACCATGCGCGCCCGCTCGGG	0.736000												
TSC2	7249	broad.mit.edu	37	16	2126084	2126084	+	Silent	SNP	C	C	A	rs137854232		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:2126084C>A	uc002con.3	+	23	2761	c.2655C>A	c.(2653-2655)atC>atA	p.I885I	TCRBV20S1_uc021tak.1_Intron|TSC2_uc010bsd.3_Silent_p.I885I|TSC2_uc002coo.3_Silent_p.I885I|TSC2_uc010uvv.2_Silent_p.I848I|TSC2_uc010uvw.2_Silent_p.I836I|TSC2_uc002cop.3_Silent_p.I685I	NM_000548	NP_000539	P49815	TSC2_HUMAN	Homo sapiens tuberous sclerosis 2 (TSC2), transcript variant 1, mRNA.	885					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|TSC1-TSC2 complex|nucleus|perinuclear region of cytoplasm	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				ATCAGTACATCGTGTGTCTGG	0.557000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis			
MCM5	4174	broad.mit.edu	37	22	35802622	35802622	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:35802622G>A	uc003anu.4	+	4	594	c.500G>A	c.(499-501)cGc>cAc	p.R167H	MCM5_uc003anv.4_Missense_Mutation_p.R124H|MCM5_uc010gws.2_5'Flank	NM_006739	NP_006730	P33992	MCM5_HUMAN	Homo sapiens minichromosome maintenance complex component 5 (MCM5), mRNA.	167					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						AAGGCCACCCGCATCTCTATC	0.607000												
TAF1	6872	broad.mit.edu	37	X	70598858	70598858	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:70598858C>T	uc004dzu.4	+	7	1385	c.1334C>T	c.(1333-1335)gCg>gTg	p.A445V	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.4_Missense_Mutation_p.A466V	NM_138923	NP_620278	P21675	TAF1_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa (TAF1), transcript variant 2, mRNA.	445					G1 phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|TBP-class protein binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				ACTAGGAATGCGATGGCTTAC	0.493000												
ZNF700	90592	broad.mit.edu	37	19	12089891	12089891	+	Silent	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:12089891A>G	uc010xmf.2	+	3	1338	c.1212A>G	c.(1210-1212)acA>acG	p.T404T	ZNF700_uc002msv.3_Silent_p.T387T|ZNF700_uc002msw.3_Silent_p.T384T|ZNF700_uc010xmg.2_Silent_p.T262T	NM_001012753	NP_001012771	Q9H0M5	ZN700_HUMAN	Homo sapiens zinc finger protein 763 (ZNF763), mRNA.	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						TTTCAAACACACCTAAGAATG	0.393000												
LRP2BP	55805	broad.mit.edu	37	4	186288347	186288347	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:186288347C>T	uc003ixj.2	-	7	1843	c.1031G>A	c.(1030-1032)cGt>cAt	p.R344H	SNX25_uc003ixi.3_Intron|LRP2BP_uc003ixk.2_Missense_Mutation_p.R318H	NM_018409	NP_060879	Q9P2M1	LR2BP_HUMAN	Homo sapiens LRP2 binding protein (LRP2BP), mRNA.	344						cytoplasm	protein binding			breast(1)|endometrium(2)|large_intestine(6)|lung(3)|prostate(1)|skin(2)	15		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161)		AATTCTTTGACGAATAAGTAA	0.343000												
HOXC10	3226	broad.mit.edu	37	12	54379097	54379097	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:54379097G>A	uc001sen.3	+	0	152	c.54G>A	c.(52-54)gcG>gcA	p.A18A		NM_017409	NP_059105	Q9NYD6	HXC10_HUMAN	Homo sapiens homeobox C10 (HOXC10), mRNA.	18					positive regulation of cell proliferation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(14)|pancreas(1)	20						CCTTGGCTGCGCCCGGCGGAG	0.592000												
OR7D2	162998	broad.mit.edu	37	19	9297198	9297198	+	Silent	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:9297198C>A	uc002mkz.1	+	0	929	c.741C>A	c.(739-741)gtC>gtA	p.V247V		NM_175883	NP_787079	Q96RA2	OR7D2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily D, member 2 (OR7D2), mRNA.	247					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						ACCTCTCCGTCGTTTCTTTAT	0.473000												
ADAMTSL1	92949	broad.mit.edu	37	9	18681926	18681926	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:18681926C>T	uc003zne.4	+	11	1610	c.1458C>T	c.(1456-1458)tgC>tgT	p.C486C	ADAMTSL1_uc003znc.4_Silent_p.C486C	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	486	TSP type-1 3.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		AAGAGGAATGCATCGTACCCA	0.488000												
TPH2	121278	broad.mit.edu	37	12	72416230	72416230	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:72416230C>T	uc009zrw.1	+	8	1261	c.1120C>T	c.(1120-1122)Cgg>Tgg	p.R374W	TPH2_uc001swy.2_Missense_Mutation_p.R284W	NM_173353	NP_775489	Q8IWU9	TPH2_HUMAN	Homo sapiens tryptophan hydroxylase 2 (TPH2), mRNA.	374					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	AGGGCAACTGCGGGCATATGG	0.433000												
GABRQ	55879	broad.mit.edu	37	X	151821085	151821085	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:151821085C>T	uc004ffp.1	+	8	1260	c.1240C>T	c.(1240-1242)Ctc>Ttc	p.L414F		NM_018558	NP_061028	Q9UN88	GBRT_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, theta (GABRQ), mRNA.	414						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					CCCGGAAAGCCTCGGTTCTTT	0.627000												
ABCA6	23460	broad.mit.edu	37	17	67096998	67096998	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:67096998C>T	uc002jhw.1	-	21	3127	c.2952G>A	c.(2950-2952)ggG>ggA	p.G984G	MIR4524A_uc021ucg.1_5'Flank	NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	984					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TTTGAAGTAGCCCATTGCTGA	0.303000												
ADAMTS15	170689	broad.mit.edu	37	11	130341117	130341117	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:130341117G>A	uc010scd.2	+	6	1917	c.1917G>A	c.(1915-1917)acG>acA	p.T639T		NM_139055	NP_620686	Q8TE58	ATS15_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 15 (ADAMTS15), mRNA.	639	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		TGGACGGCACGCTGTGCTCTC	0.577000												
UBQLN1	29979	broad.mit.edu	37	9	86276800	86276800	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:86276800C>T	uc004amv.3	-	10	2246	c.1672G>A	c.(1672-1674)Gga>Aga	p.G558R	UBQLN1_uc004amw.3_Missense_Mutation_p.G530R	NM_013438	NP_038466	Q9UMX0	UBQL1_HUMAN	Homo sapiens ubiquilin 1 (UBQLN1), transcript variant 1, mRNA.	558	UBA.				apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding			breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						TTCAAAAATCCCATTGCACTG	0.403000												
USP20	10868	broad.mit.edu	37	9	132636952	132636952	+	Missense_Mutation	SNP	G	G	A	rs142714756	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:132636952G>A	uc004bys.2	+	17	2049	c.1838G>A	c.(1837-1839)cGc>cAc	p.R613H	USP20_uc004byr.2_Missense_Mutation_p.R613H|USP20_uc004byt.1_Missense_Mutation_p.R613H	NM_001110303	NP_006667	Q9Y2K6	UBP20_HUMAN	Homo sapiens ubiquitin specific peptidase 20 (USP20), transcript variant 3, mRNA.	613					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	G-protein-coupled receptor binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity|zinc ion binding	p.R612S(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				CTCGACCTGCGCCCCTTCCTT	0.592000												
CASR	846	broad.mit.edu	37	3	122002869	122002869	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:122002869C>T	uc003eew.4	+	6	2536	c.2098C>T	c.(2098-2100)Ctc>Ttc	p.L700F	CASR_uc003eev.4_Missense_Mutation_p.L690F	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	690					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	p.N700K(2)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CAGCTTCGTGCTCTGCATCTC	0.617000												
DIP2A	23181	broad.mit.edu	37	21	47978163	47978163	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr21:47978163C>T	uc002zjo.2	+	31	4009	c.3826C>T	c.(3826-3828)Cgc>Tgc	p.R1276C	DIP2A_uc011afz.1_Missense_Mutation_p.R1272C|DIP2A_uc002zjr.3_Missense_Mutation_p.R243C	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog A (Drosophila) (DIP2A), transcript variant 1, mRNA.	1276					multicellular organismal development	nucleus	catalytic activity|transcription factor binding	p.V1276L(1)		cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GTCATGTGTGCGCACGTGCAT	0.662000												
ABCB10	23456	broad.mit.edu	37	1	229676376	229676376	+	Missense_Mutation	SNP	C	C	T	rs143346649		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:229676376C>T	uc001htp.4	-	4	1223	c.1180G>A	c.(1180-1182)Gcc>Acc	p.A394T		NM_012089	NP_036221	Q9NRK6	ABCBA_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 10 (ABCB10), nuclear gene encoding mitochondrial protein, mRNA.	394	ABC transmembrane type-1.					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				CCAGCCCGGGCGAATGCCTCT	0.413000												
MYADM	91663	broad.mit.edu	37	19	54377441	54377441	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:54377441G>A	uc002qcm.3	+	2	806	c.658G>A	c.(658-660)Gcc>Acc	p.A220T	MYADM_uc002qcl.3_Missense_Mutation_p.A220T|MYADM_uc002qcn.3_Missense_Mutation_p.A220T|MYADM_uc002qco.3_Missense_Mutation_p.A220T|MYADM_uc002qcp.3_Missense_Mutation_p.A220T|MYADM_uc021vbb.1_Missense_Mutation_p.A220T	NM_138373	NP_612382	Q96S97	MYADM_HUMAN	Homo sapiens myeloid-associated differentiation marker (MYADM), transcript variant 2, mRNA.	220	MARVEL 2.					integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		AGCGGCCATCGCCATCCTGCT	0.632000												
EPN3	55040	broad.mit.edu	37	17	48614339	48614339	+	Missense_Mutation	SNP	G	G	A	rs141722620	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:48614339G>A	uc010wms.2	+	2	775	c.587G>A	c.(586-588)cGg>cAg	p.R196Q	EPN3_uc002ira.4_Missense_Mutation_p.R141Q|EPN3_uc010wmt.2_Non-coding_Transcript|EPN3_uc010wmu.2_Missense_Mutation_p.R141Q			Q9H201	EPN3_HUMAN	Homo sapiens epsin 3 (EPN3), mRNA.	141						clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			GAGCGGCTGCGGCAGGAGCGA	0.657000												
CLEC4F	165530	broad.mit.edu	37	2	71036887	71036887	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:71036887C>T	uc002shf.3	-	5	1719	c.1642G>A	c.(1642-1644)Gcc>Acc	p.A548T	CLEC4F_uc010yqv.1_Missense_Mutation_p.A548T	NM_173535	NP_775806	Q8N1N0	CLC4F_HUMAN	Homo sapiens C-type lectin domain family 4, member F (CLEC4F), mRNA.	548	C-type lectin.				endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						TTCTGGGCGGCGTTGAATGGT	0.547000												
HAS2	3037	broad.mit.edu	37	8	122641065	122641065	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:122641065C>T	uc003yph.2	-	1	1054	c.516G>A	c.(514-516)acG>acA	p.T172T		NM_005328	NP_005319	Q92819	HAS2_HUMAN	Homo sapiens hyaluronan synthase 2 (HAS2), mRNA.	172						integral to plasma membrane	hyaluronan synthase activity	p.T172T(4)	HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			AGACCAATTGCGTTACGTGTT	0.458000												
KIAA0564	23078	broad.mit.edu	37	13	42465597	42465597	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:42465597G>A	uc001uyj.3	-	4	680	c.610C>T	c.(610-612)Cgc>Tgc	p.R204C	KIAA0564_uc001uyk.3_Missense_Mutation_p.R204C	NM_015058	NP_055873	A3KMH1	K0564_HUMAN	Homo sapiens KIAA0564 (KIAA0564), transcript variant 1, mRNA.	204						extracellular region	ATP binding|ATPase activity	p.R204C(2)		endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(19)|lung(15)|ovary(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		ATCAGGAAGCGTCCATCTTCA	0.438000												
LRP1	4035	broad.mit.edu	37	12	57548147	57548147	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:57548147C>T	uc001snd.3	+	6	1464	c.998C>T	c.(997-999)gCc>gTc	p.A333V	LRP1_uc001snc.1_Missense_Mutation_p.A333V	NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	333					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CTGGACCCTGCCATGGGGTGA	0.552000												
ATRN	8455	broad.mit.edu	37	20	3584894	3584894	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:3584894G>A	uc002wim.2	+	23	3876	c.3786G>A	c.(3784-3786)tgG>tgA	p.W1262*	ATRN_uc002wil.2_Nonsense_Mutation_p.W1262*|ATRN_uc021vzz.1_Nonsense_Mutation_p.W1146*	NM_139321	NP_647537	O75882	ATRN_HUMAN	Homo sapiens attractin (ATRN), transcript variant 1, mRNA.	1262					inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						ATTTCACCTGGCCCATCAAAA	0.363000												
MED13	9969	broad.mit.edu	37	17	60087922	60087922	+	Silent	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:60087922T>C	uc002izo.3	-	8	2033	c.1956A>G	c.(1954-1956)acA>acG	p.T652T	MED13_uc002izp.3_Silent_p.T268T	NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	Homo sapiens mediator complex subunit 13 (MED13), mRNA.	652					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CTGTAACTGATGTTACACTTT	0.348000												
FICD	11153	broad.mit.edu	37	12	108913112	108913112	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:108913112C>T	uc001tmx.1	+	2	1383	c.1237C>T	c.(1237-1239)Cct>Tct	p.P413S		NM_007076	NP_009007	Q9BVA6	FICD_HUMAN	Homo sapiens FIC domain containing (FICD), mRNA.	413	Fido.				negative regulation of Rho GTPase activity	integral to membrane	binding|protein adenylyltransferase activity			NS(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|upper_aerodigestive_tract(2)	15						CGACGTGAGGCCTTTCATTCG	0.592000												
TPTE2	93492	broad.mit.edu	37	13	20056655	20056655	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:20056655T>C	uc001umd.3	-	4	363	c.152A>G	c.(151-153)gAa>gGa	p.E51G	TPTE2_uc009zzk.3_Intron|TPTE2_uc009zzl.3_Missense_Mutation_p.E51G|TPTE2_uc001ume.3_Intron|TPTE2_uc009zzm.3_Intron|TPTE2_uc010tcm.2_Non-coding_Transcript	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	51						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		TTCAGCATCTTCAACTTCAAA	0.348000												
FEZF2	55079	broad.mit.edu	37	3	62355985	62355985	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:62355985C>A	uc003dlh.2	-	3	1360	c.1153G>T	c.(1153-1155)Ggc>Tgc	p.G385C	FEZF2_uc003dli.2_Missense_Mutation_p.G385C	NM_018008	NP_060478	Q8TBJ5	FEZF2_HUMAN	Homo sapiens FEZ family zinc finger 2 (FEZF2), mRNA.	385					transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		TGCTTCTCGCCGCTGTGGGTC	0.507000												
ECE2	9718	broad.mit.edu	37	3	184008830	184008830	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:184008830C>T	uc003fni.4	+	16	2229	c.2191C>T	c.(2191-2193)Cgc>Tgc	p.R731C	ECE2_uc011brh.1_Missense_Mutation_p.R584C|ECE2_uc003fnl.4_Missense_Mutation_p.R659C|ECE2_uc003fnm.4_Missense_Mutation_p.R613C|ECE2_uc003fnk.4_Missense_Mutation_p.R584C|ECE2_uc011bri.1_Missense_Mutation_p.R646C|ECE2_uc010hxv.3_3'UTR	NM_014693	NP_055508	O60344	ECE2_HUMAN	Homo sapiens endothelin converting enzyme 2 (ECE2), transcript variant 1, mRNA.	731	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	Golgi membrane|cytoplasmic vesicle membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CTCCTCAGGGCGCGAGTATGA	0.607000												
OR10V1	390201	broad.mit.edu	37	11	59480487	59480487	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:59480487C>T	uc001nof.1	-	0	832	c.832G>A	c.(832-834)Gcc>Acc	p.A278T		NM_001005324	NP_001005324	Q8NGI7	O10V1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily V, member 1 (OR10V1), mRNA.	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1)	16						AATGTGTAGGCCACAGATACC	0.458000												
TMEM132B	114795	broad.mit.edu	37	12	125900205	125900205	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:125900205G>A	uc001uhe.1	+	2	1081	c.1073G>A	c.(1072-1074)cGc>cAc	p.R358H	TMEM132B_uc021rgl.1_Missense_Mutation_p.R248H	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	358						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		ATGGGCCATCGCCCGGACACG	0.592000												
PLEKHA5	54477	broad.mit.edu	37	12	19427794	19427794	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:19427794G>A	uc001reb.3	+	9	1280	c.1172G>A	c.(1171-1173)cGc>cAc	p.R391H	PLEKHA5_uc010sie.2_Missense_Mutation_p.R397H|PLEKHA5_uc001rea.3_Missense_Mutation_p.R391H|PLEKHA5_uc009zin.3_Missense_Mutation_p.R149H|PLEKHA5_uc010sig.2_Missense_Mutation_p.R283H|PLEKHA5_uc010sih.1_Missense_Mutation_p.R283H|PLEKHA5_uc021qvy.1_Missense_Mutation_p.R283H|PLEKHA5_uc001rec.1_Missense_Mutation_p.R79H	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 5 (PLEKHA5), transcript variant 1, mRNA.	391							1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					GGTGGAAATCGCCCCAATACA	0.473000												
IPO8	10526	broad.mit.edu	37	12	30837276	30837276	+	Silent	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:30837276A>G	uc001rjd.3	-	2	630	c.282T>C	c.(280-282)gaT>gaC	p.D94D		NM_006390	NP_006381	O15397	IPO8_HUMAN	Homo sapiens importin 8 (IPO8), transcript variant 1, mRNA.	94	Importin N-terminal.				intracellular protein transport|signal transduction	cytoplasm|nucleus	Ran GTPase binding|protein transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CCACAATGTTATCACGTATTT	0.408000												
ARMC6	93436	broad.mit.edu	37	19	19153682	19153682	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:19153682G>A	uc002nld.3	+	2	624	c.192G>A	c.(190-192)tcG>tcA	p.S64S	ARMC6_uc002nlc.3_Silent_p.S39S|ARMC6_uc010xql.2_Intron|ARMC6_uc010xqm.2_Silent_p.S64S	NM_001199196	NP_001186125	Q6NXE6	ARMC6_HUMAN	Homo sapiens armadillo repeat containing 6 (ARMC6), transcript variant 1, mRNA.	64							protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			AGTTTGAATCGCAAGGTAGGG	0.597000												
ALCAM	214	broad.mit.edu	37	3	105243139	105243139	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:105243139C>T	uc003dvx.3	+	2	877	c.181C>T	c.(181-183)Ccc>Tcc	p.P61S	ALCAM_uc003dvv.3_Missense_Mutation_p.P61S|ALCAM_uc003dvw.2_Missense_Mutation_p.P61S|ALCAM_uc003dvy.3_Missense_Mutation_p.P61S|ALCAM_uc011bhh.1_Missense_Mutation_p.P10S	NM_001627	NP_001618	Q13740	CD166_HUMAN	Homo sapiens activated leukocyte cell adhesion molecule (ALCAM), transcript variant 1, mRNA.	61	Ig-like V-type 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						ttaGGAAAAGCCCGATGGCTC	0.353000												
RALGAPB	57148	broad.mit.edu	37	20	37194098	37194098	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:37194098T>C	uc002xiw.3	+	24	4051	c.3794T>C	c.(3793-3795)gTt>gCt	p.V1265A	RALGAPB_uc002xix.3_Missense_Mutation_p.V1262A|RALGAPB_uc002xiy.1_Intron|RALGAPB_uc002xiz.3_Missense_Mutation_p.V1044A	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN	Homo sapiens Ral GTPase activating protein, beta subunit (non-catalytic) (RALGAPB), mRNA.	1265	Rap-GAP.				activation of Ral GTPase activity	intracellular	Ral GTPase activator activity|protein heterodimerization activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GCTTTTGTGGTTCCTTCTCCT	0.383000												
MAP3K8	1326	broad.mit.edu	37	10	30748327	30748327	+	Silent	SNP	G	G	A	rs141896473		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:30748327G>A	uc001ivi.2	+	7	1782	c.1170G>A	c.(1168-1170)ccG>ccA	p.P390P	MAP3K8_uc009xlf.2_Silent_p.P390P|MAP3K8_uc001ivj.2_Silent_p.P390P	NM_005204	NP_005195	P41279	M3K8_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 8 (MAP3K8), transcript variant 1, mRNA.	390					T cell costimulation|cell cycle	cytosol	ATP binding|MAP kinase kinase kinase activity|magnesium ion binding|protein binding	p.P390P(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				CCCTGAACCCGCCCAGAGAGG	0.567000												
KIAA1328	57536	broad.mit.edu	37	18	34752963	34752963	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:34752963C>T	uc002kzz.3	+	8	1464	c.1442C>T	c.(1441-1443)gCg>gTg	p.A481V	KIAA1328_uc002lab.3_Missense_Mutation_p.A233V|KIAA1328_uc002lac.1_Missense_Mutation_p.A340V	NM_020776	NP_065827	Q86T90	K1328_HUMAN	Homo sapiens KIAA1328 (KIAA1328), mRNA.	481										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		AGAAAAGATGCGTCTACATCT	0.388000												
HMCN1	83872	broad.mit.edu	37	1	186158913	186158913	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:186158913G>A	uc001grq.1	+	106	17040	c.16811G>A	c.(16810-16812)cGc>cAc	p.R5604H	MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_Missense_Mutation_p.R1056H	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	5604					response to stimulus|visual perception	basement membrane	calcium ion binding	p.R5604H(2)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAGACCTACCGCATGAGGGTC	0.468000												
AGAP2	116986	broad.mit.edu	37	12	58120958	58120958	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:58120958C>T	uc001spq.3	-	17	3135	c.3135G>A	c.(3133-3135)gcG>gcA	p.A1045A	AGAP2_uc001spp.3_Silent_p.A1044A|AGAP2_uc001spr.3_Silent_p.A689A|LOC100130776_uc001sps.4_Silent_p.G61G	NM_001122772	NP_001116244	Q99490	AGAP2_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 (AGAP2), transcript variant 1, mRNA.	1045	Arf-GAP.				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						TGCTCAGCGGCGCCAGGAACA	0.672000											OREG0021951	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PCDHB3	56132	broad.mit.edu	37	5	140481683	140481683	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:140481683G>A	uc003lio.3	+	0	1450	c.1450G>A	c.(1450-1452)Gcc>Acc	p.A484T	BC016751_uc003lin.3_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	484	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGCACCAACGCCCAGGTAAC	0.632000												
SPON1	10418	broad.mit.edu	37	11	14276113	14276113	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:14276113G>A	uc001mle.3	+	8	1195	c.927G>A	c.(925-927)acG>acA	p.T309T		NM_006108	NP_006099	Q9HCB6	SPON1_HUMAN	Homo sapiens spondin 1, extracellular matrix protein (SPON1), mRNA.	310	Spondin.				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		TGGACAGAACGCGCCATTTAA	0.512000												
MTSS1	9788	broad.mit.edu	37	8	125565387	125565387	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:125565387G>A	uc003yrl.2	-	14	2660	c.2126C>T	c.(2125-2127)gCc>gTc	p.A709V	NDUFB9_uc011lim.1_Intron|MTSS1_uc003yrh.2_Missense_Mutation_p.A354V|MTSS1_uc011lin.1_Missense_Mutation_p.A479V|MTSS1_uc011lio.1_Missense_Mutation_p.A595V|MTSS1_uc003yri.2_Missense_Mutation_p.A423V|MTSS1_uc003yrj.2_Missense_Mutation_p.A680V|MTSS1_uc003yrk.2_Missense_Mutation_p.A705V	NM_014751	NP_055566	O43312	MTSS1_HUMAN	Homo sapiens metastasis suppressor 1 (MTSS1), mRNA.	705	Pro-rich.				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	SH3 domain binding|actin monomer binding|cytoskeletal adaptor activity|receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GGAGACAGTGGCACTTGGGGG	0.582000												
KIAA1586	57691	broad.mit.edu	37	6	56917800	56917800	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:56917800G>A	uc003pdj.3	+	3	673	c.503G>A	c.(502-504)cGg>cAg	p.R168Q	KIAA1586_uc011dxm.2_Missense_Mutation_p.R141Q	NM_020931	NP_065982	Q9HCI6	K1586_HUMAN	Homo sapiens KIAA1586 (KIAA1586), mRNA.	168							nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TCAGCAGTTCGGCATTTGGGA	0.363000												
CSF1R	1436	broad.mit.edu	37	5	149447825	149447825	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:149447825C>T	uc003lrl.3	-	9	1774	c.1579G>A	c.(1579-1581)Gcc>Acc	p.A527T	CSF1R_uc011dcd.2_Missense_Mutation_p.A379T|CSF1R_uc010jhc.3_Non-coding_Transcript|CSF1R_uc003lrm.3_Missense_Mutation_p.A527T	NM_005211	NP_005202	P07333	CSF1R_HUMAN	Homo sapiens colony stimulating factor 1 receptor (CSF1R), mRNA.	527					cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	agcagcaAGGCCATGATGGAC	0.587000												
TTN	7273	broad.mit.edu	37	2	179404438	179404438	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:179404438G>A	uc021vsy.1	-	300	90875	c.90650C>T	c.(90649-90651)gCt>gTt	p.A30217V	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Non-coding_Transcript|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.A23912V|TTN_uc021vta.1_Missense_Mutation_p.A23845V|TTN_uc021vtb.1_Missense_Mutation_p.A23720V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	31144	Fibronectin type-III 120.						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)			GATGTAGACAGCCTTCTTGCC	0.488000												
ZBTB12	221527	broad.mit.edu	37	6	31868726	31868726	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:31868726G>A	uc003nyd.1	-	1	533	c.357C>T	c.(355-357)tgC>tgT	p.C119C	CFB_uc003nyc.2_Intron|CFB_uc011doo.2_Intron|ZBTB12_uc021yva.1_Silent_p.C119C|CFB_uc011dop.2_5'Flank	NM_181842	NP_862825	Q9Y330	ZBT12_HUMAN	Homo sapiens zinc finger and BTB domain containing 12 (ZBTB12), mRNA.	119					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1)	10						GGGCATTCCGGCATTTCTCCA	0.567000												
BAI3	577	broad.mit.edu	37	6	69665995	69665995	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:69665995G>A	uc010kak.3	+	5	1551	c.1275G>A	c.(1273-1275)cgG>cgA	p.R425R	BAI3_uc003pev.4_Silent_p.R425R	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	425	TSP type-1 3.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AGAGAAGCCGGCAGTGCACTG	0.542000												
MPHOSPH9	10198	broad.mit.edu	37	12	123687564	123687564	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:123687564C>T	uc001uel.3	-	5	1040	c.932G>A	c.(931-933)gGc>gAc	p.G311D	MPHOSPH9_uc010tal.2_Intron|MPHOSPH9_uc010tam.2_Non-coding_Transcript|MPHOSPH9_uc001uem.3_Intron	NM_022782	NP_073619	Q99550	MPP9_HUMAN	Homo sapiens M-phase phosphoprotein 9 (MPHOSPH9), mRNA.	311					M phase of mitotic cell cycle	Golgi membrane|centriole				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		ATTCGGAAGGCCGTGAGGTTG	0.473000												
C8orf80	389643	broad.mit.edu	37	8	27922179	27922179	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:27922179C>T	uc003xgm.4	-	6	924	c.781G>A	c.(781-783)Gct>Act	p.A261T		NM_001010906	NP_001010906	Q68CJ6	SLIP_HUMAN	Homo sapiens chromosome 8 open reading frame 80 (C8orf80), mRNA.	261						nucleus	GTP binding|GTPase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|skin(1)|stomach(1)	35		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.126)|Kidney(114;0.15)|Colorectal(74;0.181)		CGCATCTCAGCGGCCTCTCCA	0.562000												
CNKSR3	154043	broad.mit.edu	37	6	154481030	154481030	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:154481030T>C	uc021zhc.1	-	21	3138	c.2633A>G	c.(2632-2634)gAc>gGc	p.D878G	OPRM1_uc003qpt.1_Intron|CNKSR3_uc003qpv.3_Missense_Mutation_p.D287G|CNKSR3_uc003qpw.3_Missense_Mutation_p.D417G|CNKSR3_uc003qpx.3_Missense_Mutation_p.D416G|CNKSR3_uc010kjh.3_Missense_Mutation_p.D417G	NM_173515	NP_775786	Q6P9H4	CNKR3_HUMAN	Homo sapiens CNKSR family member 3 (CNKSR3), mRNA.	0					negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		GTCATCAGTGTCATCAGGGGC	0.483000												
RPS6KA1	6195	broad.mit.edu	37	1	26900639	26900639	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:26900639T>C	uc001bmr.1	+	21	2318	c.2155T>C	c.(2155-2157)Tca>Cca	p.S719P	RPS6KA1_uc010ofe.1_Missense_Mutation_p.S627P|RPS6KA1_uc001bms.1_Missense_Mutation_p.S728P|RPS6KA1_uc009vsl.1_Missense_Mutation_p.S562P	NM_002953	NP_002944	Q15418	KS6A1_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 1 (RPS6KA1), transcript variant 1, mRNA.	719					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		GCCCATCGAGTCATCCATCCT	0.622000												
PLBD2	196463	broad.mit.edu	37	12	113822727	113822727	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:113822727T>C	uc001tve.2	+	7	1225	c.1190T>C	c.(1189-1191)gTg>gCg	p.V397A	PLBD2_uc001tvf.2_Intron	NM_173542	NP_775813	Q8NHP8	PLBL2_HUMAN	Homo sapiens phospholipase B domain containing 2 (PLBD2), transcript variant 1, mRNA.	397					lipid catabolic process	lysosomal lumen	hydrolase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						GGGAGCCGGGTGCTTACCATC	0.672000												
GTSE1	51512	broad.mit.edu	37	22	46712231	46712231	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:46712231C>T	uc011aqy.2	+	6	1566	c.1354C>T	c.(1354-1356)Cga>Tga	p.R452*	GTSE1_uc011aqz.2_Nonsense_Mutation_p.R299*|GTSE1_uc003bhl.1_Nonsense_Mutation_p.R77*|GTSE1_uc003bhm.1_Nonsense_Mutation_p.R77*	NM_016426	NP_057510	Q9NYZ3	GTSE1_HUMAN	Homo sapiens G-2 and S-phase expressed 1 (GTSE1), mRNA.	433					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		TATCAGACGGCGAGATTCCTG	0.418000												
LPO	4025	broad.mit.edu	37	17	56326511	56326511	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:56326511G>A	uc002ivt.3	+	4	732	c.416G>A	c.(415-417)cGc>cAc	p.R139H	LPO_uc010dco.2_Missense_Mutation_p.R139H|LPO_uc010wnr.1_Missense_Mutation_p.R56H|LPO_uc010wns.2_Missense_Mutation_p.R80H|LPO_uc010dcp.3_Missense_Mutation_p.R56H|LPO_uc010dcq.3_5'UTR	NM_006151	NP_006142	P22079	PERL_HUMAN	Homo sapiens lactoperoxidase (LPO), transcript variant 1, mRNA.	139					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.R139H(2)		breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						AGCCCTTACCGCACCATTACG	0.627000												
ISLR2	57611	broad.mit.edu	37	15	74426148	74426148	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:74426148C>T	uc002axd.3	+	3	1822	c.1053C>T	c.(1051-1053)ggC>ggT	p.G351G	ISLR2_uc002axe.3_Silent_p.G351G|ISLR2_uc010bjg.3_Silent_p.G351G|ISLR2_uc010bjf.3_Silent_p.G351G|ISLR2_uc021sqe.1_Silent_p.G351G	NM_001130136	NP_065902	Q6UXK2	ISLR2_HUMAN	Homo sapiens immunoglobulin superfamily containing leucine-rich repeat 2 (ISLR2), transcript variant 1, mRNA.	351	Ig-like.				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						AGGAGGCGGGCGTCTACACTT	0.687000												
CNOT6L	246175	broad.mit.edu	37	4	78652648	78652648	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:78652648G>A	uc011ccd.2	-	8	1048	c.917C>T	c.(916-918)gCg>gTg	p.A306V	CNOT6L_uc003hks.3_Missense_Mutation_p.A306V|CNOT6L_uc003hkt.1_Missense_Mutation_p.A149V	NM_144571	NP_653172	Q96LI5	CNO6L_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 6-like (CNOT6L), mRNA.	306					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding	p.A306V(1)|p.E305K(1)		kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						ATTAGCCATCGCCACTTGGTT	0.368000												
CUL1	8454	broad.mit.edu	37	7	148485686	148485686	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:148485686G>A	uc010lpg.3	+	13	2043	c.1517G>A	c.(1516-1518)cGc>cAc	p.R506H	CUL1_uc003wey.3_Missense_Mutation_p.R506H|CUL1_uc003wez.3_Missense_Mutation_p.R396H|CUL1_uc003wfa.3_Missense_Mutation_p.R167H	NM_003592	NP_003583	Q13616	CUL1_HUMAN	Homo sapiens cullin 1 (CUL1), mRNA.	506					G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination	SCF ubiquitin ligase complex|cytosol|nucleoplasm	ubiquitin protein ligase binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			AAACTTCAGCGCATGTTTCAA	0.418000												
TPM3	7170	broad.mit.edu	37	1	154145414	154145414	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:154145414C>T	uc001fec.1	-	4	651	c.536G>A	c.(535-537)cGc>cAc	p.R179H	TPM3_uc001fdx.1_5'Flank|TPM3_uc010pei.1_Missense_Mutation_p.R52H|TPM3_uc001fdy.1_Missense_Mutation_p.R142H|TPM3_uc001fdz.1_Missense_Mutation_p.R142H|TPM3_uc001fea.1_Missense_Mutation_p.R142H|TPM3_uc001feb.1_Missense_Mutation_p.R142H|TPM3_uc010pej.1_Missense_Mutation_p.R75H|TPM3_uc001fed.1_Missense_Mutation_p.R142H	NM_152263	NP_689476	P06753	TPM3_HUMAN	Homo sapiens tropomyosin 3 (TPM3), transcript variant 1, mRNA.	178					cellular component movement|muscle filament sliding|regulation of muscle contraction	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding		TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					TTCCTCTGTGCGTTCCAAGTC	0.468000			T	"""NTRK1, ALK, ROS1"""	"""papillary thyroid, ALCL, NSCLC"""							
EVC	2121	broad.mit.edu	37	4	5803721	5803721	+	Silent	SNP	C	C	T	rs138114051		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:5803721C>T	uc003gil.1	+	15	2533	c.2349C>T	c.(2347-2349)agC>agT	p.S783S	EVC_uc003gim.1_Non-coding_Transcript	NM_153717	NP_714928	P57679	EVC_HUMAN	Homo sapiens Ellis van Creveld syndrome (EVC), mRNA.	783					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				ACGTGACCAGCGCTGGTGTCA	0.592000												
ANP32D	23519	broad.mit.edu	37	12	48866816	48866816	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:48866816C>T	uc010slt.2	+	0	369	c.369C>T	c.(367-369)tgC>tgT	p.C123C		NM_012404	NP_036536	O95626	AN32D_HUMAN	Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member D (ANP32D), mRNA.	123										central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	9						TTTTCACTTGCGAGGTAACCA	0.438000												
C20orf96	140680	broad.mit.edu	37	20	257710	257710	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:257710T>G	uc002wde.2	-	7	968	c.800A>C	c.(799-801)aAa>aCa	p.K267T	C20orf96_uc021vzl.1_Missense_Mutation_p.K266T|C20orf96_uc010zpi.2_Missense_Mutation_p.K214T|C20orf96_uc010zpj.1_Missense_Mutation_p.K232T|C20orf96_uc010zpk.2_Missense_Mutation_p.K205T	NM_153269	NP_695001	Q9NUD7	CT096_HUMAN	Homo sapiens chromosome 20 open reading frame 96 (C20orf96), transcript variant 1, mRNA.	267	Poly-Lys.									endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12		all_cancers(10;0.00959)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			CAGAATTTTTTTCTTCTTCTT	0.562000												
CAPN9	10753	broad.mit.edu	37	1	230910313	230910313	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:230910313C>T	uc001htz.1	+	7	1002	c.889C>T	c.(889-891)Cgt>Tgt	p.R297C	CAPN9_uc009xfg.1_Missense_Mutation_p.R234C|CAPN9_uc001hua.1_Intron	NM_006615	NP_006606	O14815	CAN9_HUMAN	Homo sapiens calpain 9 (CAPN9), transcript variant 1, mRNA.	297	Calpain catalytic.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				TCCGGAGTGGCGTTCTGTTGG	0.498000												
DENND4C	55667	broad.mit.edu	37	9	19346603	19346603	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:19346603G>A	uc003znq.3	+	17	3061	c.2981G>A	c.(2980-2982)cGt>cAt	p.R994H	DENND4C_uc011lnc.2_Missense_Mutation_p.R324H|DENND4C_uc011lnd.2_Missense_Mutation_p.R282H|DENND4C_uc003znr.3_Missense_Mutation_p.R282H|DENND4C_uc003zns.3_Missense_Mutation_p.R176H|DENND4C_uc003znt.3_Missense_Mutation_p.R176H	NM_017925	NP_060395	Q5VZ89	DEN4C_HUMAN	Homo sapiens DENN/MADD domain containing 4C (DENND4C), mRNA.	994						integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GTTATTGCACGTAATCTGGCT	0.378000												
VPS33A	65082	broad.mit.edu	37	12	122716928	122716928	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:122716928G>A	uc001ucd.3	-	12	1769	c.1656C>T	c.(1654-1656)ggC>ggT	p.G552G	VPS33A_uc001ucc.3_Non-coding_Transcript	NM_022916	NP_075067	Q96AX1	VP33A_HUMAN	Homo sapiens vacuolar protein sorting 33 homolog A (S. cerevisiae) (VPS33A), mRNA.	552					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		CGAAGGTTACGCCCCCAAGGA	0.393000												
TMEM11	8834	broad.mit.edu	37	17	21101798	21101798	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:21101798C>T	uc002gyp.2	-	1	861	c.418G>A	c.(418-420)Gcc>Acc	p.A140T	TMEM11_uc002gyq.2_3'UTR	NM_003876	NP_003867	P17152	TMM11_HUMAN	Homo sapiens transmembrane protein 11 (TMEM11), transcript variant 1, mRNA.	140					mitochondrion organization	integral to mitochondrial inner membrane|integral to plasma membrane	protein binding			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5						AGTTTATAGGCGTCGTACTCC	0.597000												
PSMD2	5708	broad.mit.edu	37	3	184025435	184025435	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:184025435G>A	uc003fnn.1	+	17	2270	c.2237G>A	c.(2236-2238)cGc>cAc	p.R746H	PSMD2_uc011brj.1_Missense_Mutation_p.R587H|PSMD2_uc011brk.1_Missense_Mutation_p.R616H	NM_002808	NP_002799	Q13200	PSMD2_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 2 (PSMD2), mRNA.	746					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding	p.R746H(2)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	GCAATGCTGCGCCAGTTAGCT	0.483000												
ZNF253	56242	broad.mit.edu	37	19	19989293	19989293	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:19989293C>T	uc002noj.3	+	1	99	c.7C>T	c.(7-9)Cca>Tca	p.P3S	ZNF253_uc002nok.3_Intron|ZNF253_uc002nol.3_Intron	NM_021047	NP_066385	O75346	ZN253_HUMAN	Homo sapiens zinc finger protein 253 (ZNF253), mRNA.	3					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTTCCAGGGACCATTGCAATT	0.398000												
CIDEC	63924	broad.mit.edu	37	3	9920175	9920175	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:9920175G>A	uc003btp.3	-	1	55	c.35C>T	c.(34-36)aCa>aTa	p.T12I	CIDEC_uc003bto.3_Intron|CIDEC_uc010hcp.3_5'UTR|CIDEC_uc003btq.3_5'UTR|CIDEC_uc003btr.3_5'UTR|CIDEC_uc021wsv.1_5'UTR|CIDEC_uc021wsw.1_5'UTR|CIDEC_uc003bts.3_5'UTR	NM_001199623	NP_001186552	Q96AQ7	CIDEC_HUMAN	Homo sapiens cell death-inducing DFFA-like effector c (CIDEC), transcript variant 1, mRNA.	0					apoptosis|induction of apoptosis	cytosol|focal adhesion|nucleus				breast(2)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	8	Medulloblastoma(99;0.227)					TTCCATCCTTGTCAGCTGGAC	0.522000												
CAND1	55832	broad.mit.edu	37	12	67699777	67699777	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:67699777C>T	uc001stn.2	+	9	2766	c.2329C>T	c.(2329-2331)Cgc>Tgc	p.R777C	CAND1_uc001sto.2_Missense_Mutation_p.R287C	NM_018448	NP_060918	Q86VP6	CAND1_HUMAN	Homo sapiens cullin-associated and neddylation-dissociated 1 (CAND1), mRNA.	777					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		GGATTTGTTGCGCATGCTGAC	0.448000												
WDYHV1	55093	broad.mit.edu	37	8	124453601	124453601	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:124453601C>T	uc003yqn.1	+	5	689	c.564C>T	c.(562-564)ggC>ggT	p.G188G	WDYHV1_uc011lij.1_Silent_p.G128G	NM_018024	NP_060494	Q96HA8	NTAQ1_HUMAN	Homo sapiens WDYHV motif containing 1 (WDYHV1), mRNA.	188					protein modification process	cytosol|nucleus	protein N-terminal glutamine amidohydrolase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(3)	17						TAGGATGGGGCGCCGTCTACA	0.383000												
OTUD4	54726	broad.mit.edu	37	4	146071750	146071750	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:146071750A>G	uc003ika.4	-	12	1117	c.979T>C	c.(979-981)Ttc>Ctc	p.F327L		NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	Homo sapiens OTU domain containing 4 (OTUD4), transcript variant 3, mRNA.	391							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					TGACTAGAGAACGCATGTTGT	0.458000												
DHX38	9785	broad.mit.edu	37	16	72130190	72130190	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:72130190G>A	uc002fcb.3	+	1	489	c.134G>A	c.(133-135)cGc>cAc	p.R45H	TXNL4B_uc010cgl.2_5'Flank|TXNL4B_uc002fca.3_5'Flank|TXNL4B_uc010vmn.2_5'Flank|TXNL4B_uc010vmo.2_5'Flank|DHX38_uc010vmp.2_Missense_Mutation_p.R45H|DHX38_uc010cgn.1_5'Flank	NM_014003	NP_054722	Q92620	PRP16_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 38 (DHX38), mRNA.	45					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				CCTGCTCCCCGCCCTTCATTA	0.552000												
GUCY2F	2986	broad.mit.edu	37	X	108691393	108691393	+	Splice_Site	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:108691393G>A	uc022cch.1	-	5	1558	c.1473_splice	c.e5-1	p.R491_splice	GUCY2F_uc011msq.2_Splice_Site|GUCY2F_uc004eod.4_Splice_Site_p.R491_splice	NM_001522	NP_001513	P51841	GUC2F_HUMAN	Homo sapiens guanylate cyclase 2F, retinal (GUCY2F), mRNA.	491					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						TTTATACGACGCCTAAAACAA	0.398000												
ZFYVE16	9765	broad.mit.edu	37	5	79733039	79733039	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:79733039G>A	uc003kgr.4	+	3	837	c.535G>A	c.(535-537)Gac>Aac	p.D179N	ZFYVE16_uc010jak.2_Missense_Mutation_p.D179N|ZFYVE16_uc003kgp.3_Missense_Mutation_p.D179N|ZFYVE16_uc003kgq.4_Missense_Mutation_p.D179N|ZFYVE16_uc003kgs.4_Missense_Mutation_p.D179N	NM_001105251	NP_055548	Q7Z3T8	ZFY16_HUMAN	Homo sapiens zinc finger, FYVE domain containing 16 (ZFYVE16), transcript variant 2, mRNA.	179					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		TTCTTCAACAGACCATGATAG	0.328000												
ZBTB26	57684	broad.mit.edu	37	9	125681251	125681251	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:125681251G>A	uc004bnk.3	-	1	1037	c.963C>T	c.(961-963)gcC>gcT	p.A321A	ZBTB26_uc004bnj.3_Silent_p.A321A|ZBTB26_uc022bnc.1_Silent_p.A321A	NM_020924	NP_065975	Q9HCK0	ZBT26_HUMAN	Homo sapiens zinc finger and BTB domain containing 26 (ZBTB26), mRNA.	321					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A321V(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)	11						GTTTAATTCCGGCATGCACAC	0.428000												
CDH12	1010	broad.mit.edu	37	5	21752162	21752162	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:21752162C>T	uc010iuc.2	-	11	2527	c.2069G>A	c.(2068-2070)cGc>cAc	p.R690H	CDH12_uc011cno.1_Missense_Mutation_p.R650H|CDH12_uc003jgk.2_Missense_Mutation_p.R690H|BC038535_uc003jgj.3_Intron	NM_004061	NP_004052	P55289	CAD12_HUMAN	Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA.	690					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R690H(2)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TATATCCCTGCGAATTTTGTT	0.458000										HNSCC(59;0.17)		
NUP214	8021	broad.mit.edu	37	9	134019919	134019919	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:134019919G>A	uc004cag.3	+	11	1658	c.1547G>A	c.(1546-1548)gGc>gAc	p.G516D	NUP214_uc004cah.3_Missense_Mutation_p.G516D|NUP214_uc004cai.3_5'UTR|NUP214_uc004caf.1_Missense_Mutation_p.G516D|NUP214_uc010mzf.3_5'UTR	NM_005085	NP_005076	P35658	NU214_HUMAN	Homo sapiens nucleoporin 214kDa (NUP214), mRNA.	516	11 X 5 AA approximate repeats.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		CCAGGCCCTGGCCCATCAACC	0.562000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""							
TOPBP1	11073	broad.mit.edu	37	3	133375669	133375669	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:133375669G>A	uc003eps.3	-	4	528	c.396C>T	c.(394-396)ggC>ggT	p.G132G		NM_007027	NP_008958	Q92547	TOPB1_HUMAN	Homo sapiens topoisomerase (DNA) II binding protein 1 (TOPBP1), mRNA.	132	BRCT 1.				DNA repair|response to ionizing radiation	PML body|microtubule organizing center|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						ATACTCGTCCGCCCATCATTT	0.373000								Other conserved DNA damage response genes				
ALKBH1	8846	broad.mit.edu	37	14	78146264	78146264	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:78146264G>A	uc001xuc.1	-	3	514	c.505C>T	c.(505-507)Cgt>Tgt	p.R169C		NM_006020	NP_006011	Q13686	ALKB1_HUMAN	Homo sapiens alkB, alkylation repair homolog 1 (E. coli) (ALKBH1), mRNA.	169					DNA dealkylation involved in DNA repair|DNA demethylation|RNA repair|oxidative demethylation	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		GTCACCCAACGCAGTTTCTCC	0.398000												
ZFYVE21	79038	broad.mit.edu	37	14	104194182	104194182	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:104194182G>A	uc001yod.3	+	2	387	c.289G>A	c.(289-291)Gcg>Acg	p.A97T	ZFYVE21_uc001yoc.3_Missense_Mutation_p.A97T|JA611241_uc021sei.1_5'Flank	NM_001198953	NP_001185882	Q9BQ24	ZFY21_HUMAN	Homo sapiens zinc finger, FYVE domain containing 21 (ZFYVE21), transcript variant 1, mRNA.	97						cytoplasmic membrane-bounded vesicle|focal adhesion	metal ion binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(2)	8		Melanoma(154;0.226)		Epithelial(152;0.245)		GCGGCAGTGCGCGGAGTGCGC	0.662000												
IL1RL1	9173	broad.mit.edu	37	2	102965663	102965663	+	Silent	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:102965663C>A	uc002tbu.1	+	9	1513	c.1242C>A	c.(1240-1242)ggC>ggA	p.G414G	IL18R1_uc002tbw.4_Intron	NM_016232	NP_057316	Q01638	ILRL1_HUMAN	Homo sapiens interleukin 1 receptor-like 1 (IL1RL1), transcript variant 1, mRNA.	414	TIR.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						ATAAATGTGGCTATACCTTAT	0.413000												
ACACA	31	broad.mit.edu	37	17	35603887	35603887	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:35603887C>T	uc002hnm.3	-	18	2395	c.2204G>A	c.(2203-2205)cGc>cAc	p.R735H	ACACA_uc002hnk.3_Missense_Mutation_p.R657H|ACACA_uc002hnl.3_Missense_Mutation_p.R677H|ACACA_uc002hnn.3_Missense_Mutation_p.R735H|ACACA_uc002hno.3_Missense_Mutation_p.R772H|ACACA_uc010cuz.3_Missense_Mutation_p.R735H	NM_198836	NP_942135	Q13085	ACACA_HUMAN	Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA.	735					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	AATTGTGATGCGATATCTAGG	0.408000												
TGM3	7053	broad.mit.edu	37	20	2312868	2312868	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:2312868C>T	uc002wfx.4	+	9	1651	c.1554C>T	c.(1552-1554)aaC>aaT	p.N518N		NM_003245	NP_003236	Q08188	TGM3_HUMAN	Homo sapiens transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM3), mRNA.	518					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	GDP binding|GTP binding|GTPase activity|acyltransferase activity|calcium ion binding|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	TGACAGTGAACATGACAGCCT	0.532000												
LSM14B	149986	broad.mit.edu	37	20	60704997	60704997	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:60704997A>G	uc010gjy.1	+	3	790	c.584A>G	c.(583-585)aAg>aGg	p.K195R	LSM14B_uc010gjx.1_Missense_Mutation_p.K221R|LSM14B_uc010gjz.1_Missense_Mutation_p.K151R|LSM14B_uc010zzz.1_Missense_Mutation_p.K115R	NM_144703	NP_653304	Q9BX40	LS14B_HUMAN	Homo sapiens LSM14B, SCD6 homolog B (S. cerevisiae) (LSM14B), mRNA.	195					multicellular organismal development|regulation of translation	ribonucleoprotein complex				endometrium(3)|kidney(1)|lung(4)	8	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			CCGAGCAGCAAGACGGCCAGC	0.478000												
MGAM	8972	broad.mit.edu	37	7	141797431	141797431	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:141797431C>T	uc003vwy.3	+	42	5097	c.5043C>T	c.(5041-5043)cgC>cgT	p.R1681R		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1681	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTAGAGCCCGCTGGTATGATT	0.398000												
CCNB1IP1	57820	broad.mit.edu	37	14	20784573	20784573	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:20784573C>T	uc021rnp.1	-	4	721	c.110G>A	c.(109-111)gGc>gAc	p.G37D	CCNB1IP1_uc001vwv.3_Missense_Mutation_p.G37D|CCNB1IP1_uc001vwx.3_Missense_Mutation_p.G37D|CCNB1IP1_uc001vwy.3_Missense_Mutation_p.G37D|CCNB1IP1_uc001vwz.3_Missense_Mutation_p.G37D|CCNB1IP1_uc010ahh.1_Non-coding_Transcript	NM_182852	NP_878272	Q9NPC3	CIP1_HUMAN	Homo sapiens cyclin B1 interacting protein 1, E3 ubiquitin protein ligase (CCNB1IP1), transcript variant 4, mRNA.	37						chromosome|nucleus	ligase activity|metal ion binding|protein binding		HMGA2/CCNB1IP1(2)	breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)	GBM - Glioblastoma multiforme(265;0.0164)		CTCACCACTGCCATGCTGATC	0.483000			T	HMGA2	leiomyoma							
B4GALNT3	283358	broad.mit.edu	37	12	654106	654106	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:654106G>A	uc001qii.1	+	4	506	c.506G>A	c.(505-507)cGc>cAc	p.R169H	B4GALNT3_uc001qij.1_Missense_Mutation_p.R71H	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 3 (B4GALNT3), mRNA.	169						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			TATGGCCTCCGCATCTTTGGC	0.527000												
RIN3	79890	broad.mit.edu	37	14	93125643	93125643	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:93125643A>G	uc001yap.3	+	6	2316	c.2164A>G	c.(2164-2166)Acc>Gcc	p.T722A	RIN3_uc010auk.3_Missense_Mutation_p.T384A|RIN3_uc001yaq.3_Missense_Mutation_p.T647A|RIN3_uc001yar.1_Missense_Mutation_p.T384A|RIN3_uc001yas.1_Missense_Mutation_p.T384A	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Homo sapiens Ras and Rab interactor 3 (RIN3), mRNA.	722	Interaction with RAB5B.|Poly-Thr.|VPS9.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding	p.A721T(1)		endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				GATCCTGGCCACCACCACCAC	0.567000												
HEPHL1	341208	broad.mit.edu	37	11	93796832	93796832	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:93796832G>A	uc001pep.2	+	2	731	c.574G>A	c.(574-576)Gcc>Acc	p.A192T		NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	192	Plastocyanin-like 1.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				GCACATCGACGCCCCAAAGGA	0.522000												
SLC7A9	11136	broad.mit.edu	37	19	33355554	33355554	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:33355554G>A	uc002ntv.4	-	2	333	c.216C>T	c.(214-216)tgC>tgT	p.C72C	SLC7A9_uc002ntt.4_Intron|SLC7A9_uc002ntu.4_Silent_p.C72C|SLC7A9_uc021usa.1_Silent_p.C72C|SLC7A9_uc002ntw.4_Intron	NM_001126335	NP_055085	P82251	BAT1_HUMAN	Homo sapiens solute carrier family 7 (glycoprotein-associated amino acid transporter light chain, bo,+ system), member 9 (SLC7A9), transcript variant 2, mRNA.	72					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	CGAGGACCCCGCAAGCCGCCC	0.632000												
CPSF6	11052	broad.mit.edu	37	12	69651601	69651601	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:69651601C>T	uc001sut.4	+	4	720	c.610C>T	c.(610-612)Cgg>Tgg	p.R204W	CPSF6_uc001suu.4_Missense_Mutation_p.R204W|CPSF6_uc010stk.2_5'Flank	NM_007007	NP_008938	Q16630	CPSF6_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 6, 68kDa (CPSF6), mRNA.	204					mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding	p.R204L(1)		endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			TGGTAGAGGACGGGGCCGTTT	0.547000												
ZNF570	148268	broad.mit.edu	37	19	37966838	37966838	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:37966838G>A	uc010efl.1	+	3	376	c.257G>A	c.(256-258)tGt>tAt	p.C86Y	ZNF570_uc002ogk.1_Missense_Mutation_p.C30Y|ZNF570_uc010xtr.1_5'UTR	NM_144694	NP_653295	Q96NI8	ZN570_HUMAN	Homo sapiens zinc finger protein 570 (ZNF570), mRNA.	30					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAATGGGATTGTCTGGATTCT	0.408000												
FIGNL1	63979	broad.mit.edu	37	7	50514928	50514928	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:50514928C>T	uc003tpd.3	-	3	428	c.58G>A	c.(58-60)Gca>Aca	p.A20T	FIGNL1_uc003tpb.3_5'UTR|FIGNL1_uc003tpc.3_Missense_Mutation_p.A20T|FIGNL1_uc003tpe.3_Missense_Mutation_p.A20T|FIGNL1_uc010kyy.3_Missense_Mutation_p.A20T|FIGNL1_uc022ada.1_Missense_Mutation_p.A20T	NM_022116	NP_071399	Q6PIW4	FIGL1_HUMAN	Homo sapiens fidgetin-like 1 (FIGNL1), transcript variant 2, mRNA.	20					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				GATGTAATTGCGAAGTAATTC	0.423000												
FAT1	2195	broad.mit.edu	37	4	187630114	187630114	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:187630114C>T	uc003izf.3	-	1	1056	c.868G>A	c.(868-870)Gca>Aca	p.A290T	FAT1_uc010iso.1_Missense_Mutation_p.A290T	NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	290					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CTTAAAGATGCTATGTCACCA	0.488000										HNSCC(5;0.00058)		
TUBA3E	112714	broad.mit.edu	37	2	130949603	130949603	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:130949603G>A	uc002tqv.3	-	4	1255	c.1154C>T	c.(1153-1155)gCg>gTg	p.A385V		NM_207312	NP_997195	Q6PEY2	TBA3E_HUMAN	Homo sapiens tubulin, alpha 3e (TUBA3E), mRNA.	385					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					CCAGGCCTCCGCAATGGCCGT	0.627000												
PRM3	58531	broad.mit.edu	37	16	11367303	11367303	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:11367303G>A	uc002dat.1	-	0	150	c.150C>T	c.(148-150)ggC>ggT	p.G50G	RMI2_uc002daq.1_Intron	NM_021247	NP_067070	Q9NNZ6	PRM3_HUMAN	Homo sapiens protamine 3 (PRM3), mRNA.	50					cell differentiation|chromosome condensation|multicellular organismal development|spermatogenesis	nucleosome|nucleus	DNA binding	p.0?(1)									cctcttcctcGCCCGCTGATG	0.622000												
ASB4	51666	broad.mit.edu	37	7	95157128	95157128	+	Missense_Mutation	SNP	C	C	T	rs138454369		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:95157128C>T	uc011kij.2	+	2	562	c.491C>T	c.(490-492)gCg>gTg	p.A164V	ASB4_uc003unx.3_Missense_Mutation_p.A164V	NM_016116	NP_057200	Q9Y574	ASB4_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 4 (ASB4), transcript variant 1, mRNA.	164					intracellular signal transduction					central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			TTTATAGGGGCGAATGTGAAC	0.438000											OREG0018172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SLC28A1	9154	broad.mit.edu	37	15	85478614	85478614	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:85478614C>T	uc002blg.3	+	14	1648	c.1446C>T	c.(1444-1446)tgC>tgT	p.C482C	SLC28A1_uc010bnb.3_Silent_p.C482C|SLC28A1_uc010upe.2_Intron|SLC28A1_uc010upf.1_Silent_p.C482C|SLC28A1_uc010upg.1_Silent_p.C482C	NM_004213	NP_004204	O00337	S28A1_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 (SLC28A1), transcript variant 1, mRNA.	482					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GGGAGGACTGCCCAGTGGTAG	0.607000												
AHNAK2	113146	broad.mit.edu	37	14	105415885	105415885	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:105415885G>A	uc010axc.1	-	6	6023	c.5903C>T	c.(5902-5904)gCg>gTg	p.A1968V	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.A1868V	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	1968						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTCCAGCCGCGCACCATCCAG	0.592000												
CCDC141	285025	broad.mit.edu	37	2	179732869	179732869	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:179732869C>T	uc002une.2	-	15	2576	c.2458G>A	c.(2458-2460)Gcc>Acc	p.A820T	CCDC141_uc002unf.1_Missense_Mutation_p.A299T	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	245							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			ACATCATGGGCATCACCCAGT	0.493000												
IL17RB	55540	broad.mit.edu	37	3	53899038	53899038	+	Silent	SNP	C	C	T	rs3733078		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:53899038C>T	uc003dha.3	+	10	1251	c.1212C>T	c.(1210-1212)tgC>tgT	p.C404C		NM_018725	NP_061195	Q9NRM6	I17RB_HUMAN	Homo sapiens interleukin 17 receptor B (IL17RB), mRNA.	404	SEFIR.				defense response|regulation of cell growth	extracellular region|integral to plasma membrane	cytokine receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		ACAGTGTGTGCGATGGTACCT	0.502000												
GLMN	11146	broad.mit.edu	37	1	92737086	92737086	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:92737086C>T	uc001dor.3	-	7	974	c.859G>A	c.(859-861)Gct>Act	p.A287T	GLMN_uc009wdg.3_Non-coding_Transcript|GLMN_uc001dos.3_Missense_Mutation_p.A287T	NM_053274	NP_444504	Q92990	GLMN_HUMAN	Homo sapiens glomulin, FKBP associated protein (GLMN), mRNA.	287					muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding	p.M286V(1)		endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		GCCAGAGAAGCCATTGAGTCT	0.348000									Multiple Glomus Tumors (of the Skin), Familial			
TET3	200424	broad.mit.edu	37	2	74317033	74317033	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:74317033C>T	uc002skb.4	+	4	2493	c.2493C>T	c.(2491-2493)tgC>tgT	p.C831C		NM_144993	NP_659430	O43151	TET3_HUMAN	Homo sapiens tet methylcytosine dioxygenase 3 (TET3), mRNA.	831							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						GCCGGACCTGCGCTTGCCAAG	0.557000												
TUBB1	81027	broad.mit.edu	37	20	57599575	57599575	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:57599575G>A	uc002yak.3	+	3	1362	c.1093G>A	c.(1093-1095)Gcc>Acc	p.A365T		NM_030773	NP_110400	Q9H4B7	TBB1_HUMAN	Homo sapiens tubulin, beta 1 class VI (TUBB1), mRNA.	365					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	GAGCATGGCCGCCACCTTCAT	0.542000												
ACCS	84680	broad.mit.edu	37	11	44099449	44099449	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:44099449G>A	uc009yks.1	+	7	853	c.709G>A	c.(709-711)Gcc>Acc	p.A237T	EXT2_uc010rfo.2_Intron|ACCS_uc010rfm.1_3'UTR|ACCS_uc001mxx.2_Missense_Mutation_p.A237T	NM_001127219	NP_115981	Q96QU6	1A1L1_HUMAN	Homo sapiens 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional) (ACCS), transcript variant 2, mRNA.	237							1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						GCTGGAGATGGCCCTGAGAGA	0.562000												
SHROOM3	57619	broad.mit.edu	37	4	77659960	77659960	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:77659960C>T	uc011cbx.2	+	4	1587	c.634C>T	c.(634-636)Cgg>Tgg	p.R212W	SHROOM3_uc011cbz.1_Missense_Mutation_p.R36W|SHROOM3_uc003hkf.1_Missense_Mutation_p.R87W|SHROOM3_uc003hkg.3_5'UTR	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	212					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TTATCTAAGGCGGAGCCCTGA	0.552000												
ZNF319	57567	broad.mit.edu	37	16	58031575	58031575	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:58031575C>T	uc002emx.1	-	1	1218	c.595G>A	c.(595-597)Gac>Aac	p.D199N	ZNF319_uc021tjd.1_Missense_Mutation_p.D199N	NM_020807	NP_065858	Q9P2F9	ZN319_HUMAN	Homo sapiens zinc finger protein 319 (ZNF319), mRNA.	199					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						TAGGGCTTGTCGGCCTGTTCA	0.647000												
DIO3	1735	broad.mit.edu	37	14	102028655	102028655	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:102028655C>T	uc021sdx.1	+	0	968	c.822C>T	c.(820-822)ggC>ggT	p.G274G	DIO3AS_uc001ykd.1_5'Flank|DIO3OS_uc001yke.3_5'Flank|DIO3AS_uc001ykf.3_5'Flank|DIO3AS_uc001ykg.3_5'Flank|DIO3AS_uc001ykh.3_5'Flank|DIO3AS_uc021sdw.1_5'Flank	NM_001362	NP_001353	P55073	IOD3_HUMAN	Homo sapiens deiodinase, iodothyronine, type III (DIO3), mRNA.	248					cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				ACCAGGGCGGCCGTGGCCCCG	0.607000												
USP34	9736	broad.mit.edu	37	2	61575222	61575222	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:61575222G>A	uc002sbe.3	-	14	2090	c.2068C>T	c.(2068-2070)Cga>Tga	p.R690*		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA.	690					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TCCAGCATTCGCATTCGATTA	0.443000												
DAPK1	1612	broad.mit.edu	37	9	90255318	90255318	+	Silent	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:90255318T>C	uc004apc.3	+	7	873	c.735T>C	c.(733-735)agT>agC	p.S245S	DAPK1_uc004ape.3_Silent_p.S245S|DAPK1_uc004apd.3_Silent_p.S245S|DAPK1_uc011ltg.2_Silent_p.S245S|DAPK1_uc011lth.2_5'UTR	NM_004938	NP_004929	P53355	DAPK1_HUMAN	Homo sapiens death-associated protein kinase 1 (DAPK1), mRNA.	245	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						GTAATACCAGTGCCCTAGCCA	0.483000									Chronic Lymphocytic Leukemia, Familial Clustering of			
DIP2B	57609	broad.mit.edu	37	12	51128878	51128878	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:51128878G>A	uc001rwv.3	+	33	4222	c.4066G>A	c.(4066-4068)Gcc>Acc	p.A1356T	DIP2B_uc009zlt.3_Missense_Mutation_p.A786T	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog B (Drosophila) (DIP2B), mRNA.	1356						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						GGAACGTGGCGCCCCTCAGAG	0.493000											OREG0021816	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PPP1R16B	26051	broad.mit.edu	37	20	37531340	37531340	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:37531340C>T	uc002xje.3	+	5	790	c.601C>T	c.(601-603)Cgg>Tgg	p.R201W	PPP1R16B_uc010ggc.3_Missense_Mutation_p.R201W	NM_015568	NP_056383	Q96T49	PP16B_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 16B (PPP1R16B), transcript variant 1, mRNA.	201					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				CAACGAGATGCGGGTGGCTCC	0.582000												
FLT3	2322	broad.mit.edu	37	13	28592704	28592704	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:28592704G>A	uc001urw.3	-	19	2523	c.2441C>T	c.(2440-2442)gCc>gTc	p.A814V	FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Intron	NM_004119	NP_004110	P36888	FLT3_HUMAN	Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA.	814	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	CACGTTCCTGGCGGCCAGGTC	0.453000			"""Mis, O"""		"""AML, ALL"""							
ABCC1	4363	broad.mit.edu	37	16	16208889	16208889	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:16208889G>A	uc010bvi.3	+	22	3521	c.3346G>A	c.(3346-3348)Gcc>Acc	p.A1116T	ABCC1_uc010bvj.3_Missense_Mutation_p.A1057T|ABCC1_uc010bvk.3_Missense_Mutation_p.A1060T|ABCC1_uc010bvl.3_Missense_Mutation_p.A1116T|ABCC1_uc010bvm.3_Missense_Mutation_p.A1001T|ABCC1_uc002del.4_Missense_Mutation_p.A1010T|ABCC1_uc021tds.1_Non-coding_Transcript|ABCC1_uc021tdt.1_Missense_Mutation_p.A82T	NM_004996	NP_004987	P33527	MRP1_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 1 (ABCC1), transcript variant 1, mRNA.	1116	ABC transmembrane type-1 2.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.A1115T(1)		breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GCCCATCGCCGCCATCATCAT	0.547000												
SYT7	9066	broad.mit.edu	37	11	61290689	61290689	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:61290689G>A	uc001nrv.3	-	7	1017	c.965C>T	c.(964-966)aCg>aTg	p.T322M	SYT7_uc009ynr.3_Missense_Mutation_p.T397M	NM_004200	NP_004191	O43581	SYT7_HUMAN	Homo sapiens synaptotagmin VII (SYT7), transcript variant 2, mRNA.	322	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CATCGTCACCGTCTTCTTCTT	0.557000												
CELF1	10658	broad.mit.edu	37	11	47505972	47505972	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:47505972C>T	uc001nfp.3	-	6	897	c.495G>A	c.(493-495)cgG>cgA	p.R165R	CELF1_uc001nfl.3_Silent_p.R138R|CELF1_uc010rhm.2_Silent_p.R137R|CELF1_uc001nfm.3_Silent_p.R138R|CELF1_uc001nfk.2_Silent_p.R164R|CELF1_uc001nfn.3_Silent_p.R138R|CELF1_uc001nfr.1_Silent_p.R138R	NM_001025596	NP_001020767	Q92879	CELF1_HUMAN	Homo sapiens CUGBP, Elav-like family member 1 (CELF1), transcript variant 3, mRNA.	138	RRM 2.				RNA interference|embryo development|mRNA splice site selection|regulation of RNA splicing	cytoplasm|nucleus|ribonucleoprotein complex	BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						CCCGCAATATCCGGCATTCTT	0.398000												
UBE2Q1	55585	broad.mit.edu	37	1	154523896	154523896	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:154523896G>A	uc001fff.1	-	10	1238	c.1147C>T	c.(1147-1149)Cga>Tga	p.R383*		NM_017582	NP_060052	Q7Z7E8	UB2Q1_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2Q family member 1 (UBE2Q1), mRNA.	383							ATP binding|protein binding|ubiquitin-protein ligase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	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)			AACTGCACTCGTGCTTTCCCC	0.582000												
DLG5	9231	broad.mit.edu	37	10	79554687	79554687	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:79554687C>T	uc001jzk.3	-	29	5536	c.5466G>A	c.(5464-5466)ccG>ccA	p.P1822P	DLG5_uc001jzi.3_Silent_p.P577P|DLG5_uc001jzj.3_Silent_p.P1237P	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA.	1822	Guanylate kinase-like.				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)			CAATAGCGTGCGGAGCAATGT	0.622000												
CACNA1I	8911	broad.mit.edu	37	22	40056386	40056386	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:40056386G>A	uc003ayc.3	+	14	2642	c.2642G>A	c.(2641-2643)aGc>aAc	p.S881N	CACNA1I_uc003ayd.3_Missense_Mutation_p.S846N|CACNA1I_uc003aye.3_Missense_Mutation_p.S796N|CACNA1I_uc003ayf.3_Missense_Mutation_p.S761N	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	881					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GAGGACCAGAGCTCATCCAAC	0.577000												
VPS54	51542	broad.mit.edu	37	2	64144047	64144047	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:64144047A>G	uc002scq.3	-	15	2378	c.2215T>C	c.(2215-2217)Tat>Cat	p.Y739H	VPS54_uc002scp.3_Missense_Mutation_p.Y727H|VPS54_uc002scn.3_5'UTR|VPS54_uc002sco.3_Missense_Mutation_p.Y224H|VPS54_uc010fct.3_Missense_Mutation_p.Y586H	NM_016516	NP_057600	Q9P1Q0	VPS54_HUMAN	Homo sapiens vacuolar protein sorting 54 homolog (S. cerevisiae) (VPS54), transcript variant 1, mRNA.	739					protein transport|retrograde transport, endosome to Golgi					endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						ACAACTGCATACTGTTGTCCC	0.378000												
GJA1	2697	broad.mit.edu	37	6	121768421	121768421	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:121768421G>A	uc003pyr.3	+	1	678	c.428G>A	c.(427-429)gGt>gAt	p.G143D	GJA1_uc011ebo.1_Missense_Mutation_p.G44D|GJA1_uc011ebp.1_Intron|GJA1_uc021zel.1_Missense_Mutation_p.G143D	NM_000165	NP_000156	P17302	CXA1_HUMAN	Homo sapiens gap junction protein, alpha 1, 43kDa (GJA1), mRNA.	143			G -> S (in SDTY3; dbSNP:rs28931600).		cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|connexon complex|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)	GAAGAGCATGGTAAGGTGAAA	0.458000												
DRD3	1814	broad.mit.edu	37	3	113850099	113850099	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:113850099G>A	uc003ebd.2	-	6	1295	c.872C>T	c.(871-873)gCg>gTg	p.A291V	DRD3_uc010hqn.1_Missense_Mutation_p.A291V|DRD3_uc003ebb.1_Intron|DRD3_uc003ebc.1_Missense_Mutation_p.A291V	NM_000796	NP_000787	P35462	DRD3_HUMAN	Homo sapiens dopamine receptor D3 (DRD3), transcript variant a, mRNA.	291					G-protein coupled receptor internalization|activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	GAGCTTGGGCGCTATGGTGGG	0.542000												
ACACB	32	broad.mit.edu	37	12	109577464	109577464	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:109577464C>T	uc001tob.3	+	1	373	c.254C>T	c.(253-255)gCc>gTc	p.A85V	ACACB_uc001toc.3_Missense_Mutation_p.A85V	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	85					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	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|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)	CCCAAAGATGCCGGTCGGCGG	0.622000												
DTWD1	56986	broad.mit.edu	37	15	49924402	49924402	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:49924402G>A	uc001zxq.3	+	3	588	c.311G>A	c.(310-312)gGc>gAc	p.G104D	DTWD1_uc001zxs.3_Missense_Mutation_p.G104D|DTWD1_uc001zxr.3_Missense_Mutation_p.G17D	NM_020234	NP_064619	Q8N5C7	DTWD1_HUMAN	Homo sapiens DTW domain containing 1 (DTWD1), transcript variant 1, mRNA.	104										endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;0.0384)		all cancers(107;3.27e-08)|GBM - Glioblastoma multiforme(94;7.6e-05)		gaaaCAGATGGCAAAAGTACT	0.294000												
PDK3	5165	broad.mit.edu	37	X	24552101	24552101	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:24552101G>A	uc004dbg.3	+	10	1362	c.1133G>A	c.(1132-1134)cGc>cAc	p.R378H	PDK3_uc004dbh.3_Missense_Mutation_p.R378H	NM_005391	NP_005382	Q15120	PDK3_HUMAN	Homo sapiens pyruvate dehydrogenase kinase, isozyme 3 (PDK3), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	378					glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TCCGCATGGCGCCATTACAAG	0.428000												
XDH	7498	broad.mit.edu	37	2	31610722	31610722	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:31610722C>T	uc002rnv.1	-	7	685	c.606G>A	c.(604-606)acG>acA	p.T202T		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	202					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GATCCAGGGGCGTGAACTCCT	0.537000												
NAV1	89796	broad.mit.edu	37	1	201763655	201763655	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:201763655C>T	uc021phi.1	+	14	3814	c.3467C>T	c.(3466-3468)gCc>gTc	p.A1156V	NAV1_uc001gwu.3_Missense_Mutation_p.A1156V|NAV1_uc001gwv.1_Missense_Mutation_p.A681V|NAV1_uc001gww.2_Missense_Mutation_p.A757V|NAV1_uc001gwx.3_Missense_Mutation_p.A765V|NAV1_uc001gwy.1_Missense_Mutation_p.A529V	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	Homo sapiens neuron navigator 1 (NAV1), transcript variant 1, mRNA.	1156					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						AACTCTGAGGCCCAGGCAGTC	0.498000												
KIAA0196	9897	broad.mit.edu	37	8	126056869	126056869	+	Missense_Mutation	SNP	C	C	T	rs142078144	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:126056869C>T	uc003yrt.3	-	20	2905	c.2576G>A	c.(2575-2577)cGc>cAc	p.R859H	KIAA0196_uc011lir.2_Missense_Mutation_p.R711H	NM_014846	NP_055661	Q12768	STRUM_HUMAN	Homo sapiens KIAA0196 (KIAA0196), mRNA.	859					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			TGAGAAGAGGCGGCTGCTGGT	0.428000												
SRRM2	23524	broad.mit.edu	37	16	2815081	2815081	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:2815081G>A	uc002crk.3	+	10	5101	c.4552G>A	c.(4552-4554)Ggg>Agg	p.G1518R	SRRM2_uc002crj.1_Missense_Mutation_p.G1422R|SRRM2_uc002crl.1_Missense_Mutation_p.G1518R|SRRM2_uc010bsu.1_Missense_Mutation_p.G1422R	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	1518	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						AGAAAGAAGCGGGTCAGAATC	0.527000												
NCL	4691	broad.mit.edu	37	2	232327993	232327993	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:232327993G>T	uc002vru.3	-	1	194	c.53C>A	c.(52-54)gCt>gAt	p.A18D	SNORD82_uc010fxw.1_5'Flank	NM_005381	NP_005372	P19338	NUCL_HUMAN	Homo sapiens nucleolin (NCL), mRNA.	18					angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	RNA binding|nucleotide binding|protein C-terminus binding|telomeric DNA binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		TGGAGGAGGAGCCATTTTCTT	0.403000												
FAM117B	150864	broad.mit.edu	37	2	203622048	203622048	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:203622048A>G	uc010zhx.2	+	5	1227	c.1217A>G	c.(1216-1218)aAc>aGc	p.N406S		NM_173511	NP_775782	Q6P1L5	F117B_HUMAN	Homo sapiens family with sequence similarity 117, member B (FAM117B), mRNA.	406										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						GGAAGCAACAACAGCAGCCGT	0.577000												
PMPCA	23203	broad.mit.edu	37	9	139311661	139311661	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:139311661G>A	uc004chl.3	+	6	897	c.892G>A	c.(892-894)Gcc>Acc	p.A298T	PMPCA_uc011mdz.2_Missense_Mutation_p.A167T|PMPCA_uc010nbl.3_Missense_Mutation_p.A198T|PMPCA_uc004chm.1_Missense_Mutation_p.A48T|PMPCA_uc004chn.1_5'Flank	NM_015160	NP_055975	Q10713	MPPA_HUMAN	Homo sapiens peptidase (mitochondrial processing) alpha (PMPCA), nuclear gene encoding mitochondrial protein, mRNA.	298					proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		TGGGGGGATTGCCAAGGTGAA	0.612000												
LPIN2	9663	broad.mit.edu	37	18	2924406	2924406	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:2924406T>C	uc002klo.3	-	14	2316	c.2077A>G	c.(2077-2079)Aca>Gca	p.T693A		NM_014646	NP_055461	Q92539	LPIN2_HUMAN	Homo sapiens lipin 2 (LPIN2), mRNA.	693	C-LIP.				fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		TTGGTTATTGTCCCATCAATA	0.517000												
STAG2	10735	broad.mit.edu	37	X	123185030	123185030	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:123185030G>A	uc004eua.3	+	11	1481	c.1077G>A	c.(1075-1077)gaG>gaA	p.E359E	STAG2_uc004etz.4_Silent_p.E359E|STAG2_uc004eub.3_Silent_p.E359E|STAG2_uc004euc.3_Silent_p.E359E|STAG2_uc004eud.3_Silent_p.E359E|STAG2_uc004eue.3_Silent_p.E359E	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN	Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.	359	SCD.				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						ATAACAAAGAGCTTAATTCCA	0.299000												
GZF1	64412	broad.mit.edu	37	20	23346300	23346300	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:23346300G>A	uc010gdb.3	+	2	1454	c.1280G>A	c.(1279-1281)cGc>cAc	p.R427H	GZF1_uc002wsy.3_Missense_Mutation_p.R427H|GZF1_uc010zsq.2_Intron|GZF1_uc010zsr.2_Intron|GZF1_uc002wsz.3_Missense_Mutation_p.R427H	NM_022482	NP_071927	Q9H116	GZF1_HUMAN	Homo sapiens GDNF-inducible zinc finger protein 1 (GZF1), mRNA.	427					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding	p.R427H(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					CTGCACGAGCGCACACACACG	0.716000												
TTC27	55622	broad.mit.edu	37	2	32958941	32958941	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:32958941G>A	uc002rom.3	+	10	1553	c.1280G>A	c.(1279-1281)cGc>cAc	p.R427H	TTC27_uc010ymx.2_Missense_Mutation_p.R377H	NM_017735	NP_001180438	Q6P3X3	TTC27_HUMAN	Homo sapiens tetratricopeptide repeat domain 27 (TTC27), transcript variant 1, mRNA.	427							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						GTATTGGAACGCCTGAAGATT	0.348000												
ODZ3	55714	broad.mit.edu	37	4	183245190	183245190	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:183245190G>A	uc003ivd.1	+	0	92	c.17G>A	c.(16-18)cGc>cAc	p.R6H	ODZ3_uc021xux.1_Missense_Mutation_p.R6H|ODZ3_uc010irv.1_Missense_Mutation_p.R6H	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	6	Teneurin N-terminal.				signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		GTGAAAGAACGCAGGCCTTAC	0.522000												
WSCD2	9671	broad.mit.edu	37	12	108634152	108634152	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:108634152C>T	uc001tms.3	+	7	1920	c.1176C>T	c.(1174-1176)agC>agT	p.S392S	WSCD2_uc001tmt.3_Silent_p.S392S|WSCD2_uc001tmu.3_Silent_p.S140S	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	Homo sapiens WSC domain containing 2 (WSCD2), mRNA.	392						integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						ACTGGCGCAGCGGACGGACCA	0.607000												
ADNP2	22850	broad.mit.edu	37	18	77896106	77896106	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:77896106G>A	uc002lnw.3	+	3	3265	c.2810G>A	c.(2809-2811)cGc>cAc	p.R937H		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	Homo sapiens ADNP homeobox 2 (ADNP2), mRNA.	937					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R937C(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		CATTTGGTGCGCTGCAGAAGT	0.557000												
TTN	7273	broad.mit.edu	37	2	179648867	179648867	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:179648867A>G	uc021vsy.1	-	15	2930	c.2705T>C	c.(2704-2706)gTa>gCa	p.V902A	TTN_uc021vsz.1_Missense_Mutation_p.V856A|TTN_uc021vta.1_Missense_Mutation_p.V856A|TTN_uc021vtb.1_Missense_Mutation_p.V856A|TTN_uc002unb.2_Missense_Mutation_p.V902A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	902							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G902S(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)			GCTCACCCCTACTTCCTTTTT	0.547000												
TSHZ2	128553	broad.mit.edu	37	20	51873088	51873088	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:51873088G>A	uc002xwo.3	+	1	3978	c.3091G>A	c.(3091-3093)Gtg>Atg	p.V1031M	TSHZ2_uc021wex.1_Missense_Mutation_p.V1028M	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	1031					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TGTAACAGACGTGGATGAAGA	0.493000												
CIITA	4261	broad.mit.edu	37	16	11001033	11001033	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:11001033G>A	uc002daj.4	+	10	1820	c.1687G>A	c.(1687-1689)Gcc>Acc	p.A563T	CIITA_uc002dai.4_Missense_Mutation_p.A562T|CIITA_uc002dak.4_Intron|CIITA_uc002dag.2_Missense_Mutation_p.A562T|CIITA_uc002dah.2_Missense_Mutation_p.A514T|CIITA_uc010bup.1_Intron	NM_000246	NP_000237	P33076	C2TA_HUMAN	Homo sapiens class II, major histocompatibility complex, transactivator (CIITA), mRNA.	562	NACHT.				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	ATP binding|activating transcription factor binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						CAAGGCCGACGCCCTATTTGA	0.637000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """							
PDZK1	5174	broad.mit.edu	37	1	145748554	145748554	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:145748554G>T	uc001eon.2	+	3	584	c.427G>T	c.(427-429)Ggc>Tgc	p.G143C	PDZK1_uc001eoo.2_Missense_Mutation_p.G143C|PDZK1_uc010oza.2_Missense_Mutation_p.G143C	NM_002614	NP_002605	Q5T2W1	NHRF3_HUMAN	Homo sapiens PDZ domain containing 1 (PDZK1), transcript variant 1, mRNA.	143	PDZ 2.				carnitine transport|cell proliferation|drug transport|positive regulation of ion transmembrane transport	brush border membrane|cytoplasm	PDZ domain binding|transporter activity			NS(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	7	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			GAAGGAAGGAGGCAGCTATGG	0.522000												
USP33	23032	broad.mit.edu	37	1	78187762	78187762	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:78187762G>A	uc001dht.3	-	13	1949	c.1602C>T	c.(1600-1602)ggC>ggT	p.G534G	USP33_uc001dhs.3_Silent_p.G255G|USP33_uc001dhu.3_Silent_p.G503G|USP33_uc001dhv.3_Silent_p.G339G|USP33_uc001dhw.3_Silent_p.G534G	NM_015017	NP_963918	Q8TEY7	UBP33_HUMAN	Homo sapiens ubiquitin specific peptidase 33 (USP33), transcript variant 1, mRNA.	534					axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	VCB complex|perinuclear region of cytoplasm	G-protein-coupled receptor binding|cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	p.C533Y(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						CATATGCTTCGCCACATGATC	0.398000												
TXNDC17	84817	broad.mit.edu	37	17	6544532	6544532	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:6544532C>T	uc002gdf.4	+	0	311	c.130C>T	c.(130-132)Ccc>Tcc	p.P44S	KIAA0753_uc002gde.4_5'Flank|KIAA0753_uc010vte.2_5'Flank	NM_032731	NP_116120	Q9BRA2	TXD17_HUMAN	Homo sapiens thioredoxin domain containing 17 (TXNDC17), mRNA.	44	Thioredoxin.	Contributes to redox potential value.			tumor necrosis factor-mediated signaling pathway	cytosol	electron carrier activity|peroxidase activity|protein binding|protein-disulfide reductase activity	p.C43W(1)		endometrium(1)|kidney(1)|ovary(1)	3						AAGCTGGTGCCCCGACTGCGT	0.627000												
FAM5C	339479	broad.mit.edu	37	1	190067862	190067862	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:190067862C>T	uc001gse.1	-	7	1819	c.1587G>A	c.(1585-1587)tgG>tgA	p.W529*	FAM5C_uc010pot.1_Nonsense_Mutation_p.W427*	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	529						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					TCCGCTTACGCCAGGAGGGAT	0.423000												
DOK5	55816	broad.mit.edu	37	20	53171481	53171481	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:53171481C>T	uc002xwy.3	+	1	296	c.76C>T	c.(76-78)Cga>Tga	p.R26*		NM_018431	NP_060901	Q9P104	DOK5_HUMAN	Homo sapiens docking protein 5 (DOK5), mRNA.	26	PH.						insulin receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			GATTTATCAGCGATGCTGGTT	0.373000												
GBF1	8729	broad.mit.edu	37	10	104119942	104119942	+	Splice_Site	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:104119942C>T	uc001kux.2	+	12	1472	c.1178_splice	c.e12-1	p.G393_splice	GBF1_uc001kuw.3_3'UTR|GBF1_uc001kuy.2_Splice_Site_p.G393_splice|GBF1_uc001kuz.2_Splice_Site_p.G394_splice	NM_004193	NP_004184	Q92538	GBF1_HUMAN	Homo sapiens golgi brefeldin A resistant guanine nucleotide exchange factor 1 (GBF1), transcript variant 1, mRNA.	393					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CTTCCCCAGGCACAGCTTTGG	0.522000												
FAM21C	253725	broad.mit.edu	37	10	46224380	46224380	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:46224380A>G	uc001jcu.3	+	2	315	c.197A>G	c.(196-198)gAc>gGc	p.D66G	FAM21C_uc001jcs.2_Intron|FAM21C_uc010qfk.2_Missense_Mutation_p.D66G|FAM21C_uc010qfi.2_Missense_Mutation_p.D66G	NM_015262	NP_056077	A8K5W5	A8K5W5_HUMAN	Homo sapiens family with sequence similarity 21, member C (FAM21C), transcript variant 1, mRNA.	66										central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						AAACAAGTGGACGGACTAATC	0.383000												
FBXO4	26272	broad.mit.edu	37	5	41927346	41927346	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:41927346G>A	uc003jmq.3	+	1	477	c.421G>A	c.(421-423)Gca>Aca	p.A141T	FBXO4_uc003jmp.3_Missense_Mutation_p.A141T	NM_012176	NP_036308	Q9UKT5	FBX4_HUMAN	Homo sapiens F-box protein 4 (FBXO4), transcript variant 1, mRNA.	141					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein polyubiquitination|telomere maintenance|ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex|cytoplasm	protein binding|protein homodimerization activity|ubiquitin-protein ligase activity	p.M140L(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2)	27		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)				TGACTACATGGCAGTGTAAGT	0.348000												
ZFP64	55734	broad.mit.edu	37	20	50701279	50701279	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:50701279G>A	uc002xwk.3	-	8	2104	c.1755C>T	c.(1753-1755)tgC>tgT	p.C585C	ZFP64_uc002xwj.3_Silent_p.C366C	NM_199427	NP_955459	Q9NPA5	ZF64A_HUMAN	Homo sapiens zinc finger protein 64 homolog (mouse) (ZFP64), transcript variant 4, mRNA.	430					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						AGGAGGCGCCGCAGGTCTCAC	0.612000												
CTNNBL1	56259	broad.mit.edu	37	20	36500377	36500377	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:36500377G>A	uc021wdj.1	+	15	1745	c.1654G>A	c.(1654-1656)Gag>Aag	p.E552K	CTNNBL1_uc002xhh.3_Missense_Mutation_p.E365K|CTNNBL1_uc002xhi.3_Non-coding_Transcript|CTNNBL1_uc002xhj.3_Missense_Mutation_p.E300K	NM_030877	NP_110517	Q8WYA6	CTBL1_HUMAN	Homo sapiens catenin, beta like 1 (CTNNBL1), mRNA.	552					apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins	nucleus	enzyme binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				CCGGGAGAACGAGCAAAAGCG	0.577000												
TULP4	56995	broad.mit.edu	37	6	158923299	158923299	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:158923299C>T	uc003qrf.3	+	12	3961	c.2604C>T	c.(2602-2604)ggC>ggT	p.G868G	TULP4_uc003qrg.3_Intron	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	Homo sapiens tubby like protein 4 (TULP4), transcript variant 1, mRNA.	868					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		TGAAGAAGGGCGACTTCTCCC	0.662000												
FSHR	2492	broad.mit.edu	37	2	49189950	49189950	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:49189950G>A	uc002rww.3	-	9	2120	c.2010C>T	c.(2008-2010)ggC>ggT	p.G670G	FSHR_uc010fbn.3_Silent_p.G644G|FSHR_uc002rwx.3_Silent_p.G608G	NM_000145	NP_000136	P23945	FSHR_HUMAN	Homo sapiens follicle stimulating hormone receptor (FSHR), transcript variant 1, mRNA.	670					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	p.G670G(2)|p.H671N(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	AAGAGCAGTGGCCATTCCTTG	0.438000									Gonadal Dysgenesis, 46 XX			
FBXO22	26263	broad.mit.edu	37	15	76205620	76205620	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:76205620G>A	uc002bbk.3	+	2	461	c.356G>A	c.(355-357)gGc>gAc	p.G119D	FBXO22_uc002bbj.2_Missense_Mutation_p.G119D|FBXO22_uc002bbl.3_Missense_Mutation_p.G15D	NM_147188	NP_671717	Q8NEZ5	FBX22_HUMAN	Homo sapiens F-box protein 22 (FBXO22), transcript variant 1, mRNA.	119					ubiquitin-dependent protein catabolic process		ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GAGTGTCGTGGCCATAAGAGA	0.353000												
PLEKHA7	144100	broad.mit.edu	37	11	16892710	16892710	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:16892710C>T	uc010rcu.1	-	3	256	c.241G>A	c.(241-243)Gca>Aca	p.A81T	PLEKHA7_uc001mmo.3_Missense_Mutation_p.A81T	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 7 (PLEKHA7), mRNA.	81	WW 2.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						TGCCTGAATGCTGTGGTCTGC	0.428000												
BCO2	83875	broad.mit.edu	37	11	112050080	112050080	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:112050080G>A	uc001pnf.3	+	1	285	c.168G>A	c.(166-168)ccG>ccA	p.P56P	BCO2_uc001pne.1_Intron|BCO2_uc001png.3_Silent_p.P56P|BCO2_uc001pnh.3_Silent_p.P22P|BCO2_uc010rwt.2_Intron|BCO2_uc009yyn.3_Silent_p.P22P|BCO2_uc001pni.3_Silent_p.P22P	NM_031938	NP_001032367	Q9BYV7	BCDO2_HUMAN	Homo sapiens beta-carotene oxygenase 2 (BCO2), transcript variant 1, mRNA.	56					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						GTGTTGCACCGCTGCTGACCA	0.517000												
TMEM189-UBE2V1	387522	broad.mit.edu	37	20	48741643	48741643	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:48741643G>A	uc002xvg.2	-	5	926	c.765C>T	c.(763-765)ggC>ggT	p.G255G	TMEM189-UBE2V1_uc002xvf.3_Intron|TMEM189-UBE2V1_uc010zyq.1_Non-coding_Transcript|TMEM189-UBE2V1_uc010gif.2_Silent_p.G252G|TMEM189-UBE2V1_uc010zyp.1_Silent_p.G180G	NM_199129	NP_954580	A5PLL7	TM189_HUMAN	Homo sapiens transmembrane protein 189 (TMEM189), transcript variant 1, mRNA.	255						endoplasmic reticulum membrane|integral to membrane		p.G254D(1)		breast(1)|endometrium(4)|large_intestine(6)|lung(6)	17			BRCA - Breast invasive adenocarcinoma(9;8.29e-07)			GAGGCTTCTCGCCCGTCAGGC	0.572000												
CNGA4	1262	broad.mit.edu	37	11	6261008	6261008	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:6261008C>T	uc001mco.3	+	2	374	c.259C>T	c.(259-261)Cgc>Tgc	p.R87C	CNGA4_uc010raa.2_Missense_Mutation_p.R47C|CNGA4_uc001mcn.3_Missense_Mutation_p.R47C	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 4 (CNGA4), mRNA.	87					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATGGTGGTGCGCTTCCACAC	0.537000												
COL27A1	85301	broad.mit.edu	37	9	117070050	117070050	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:117070050G>A	uc011lxl.2	+	58	5209	c.5209G>A	c.(5209-5211)Gcc>Acc	p.A1737T	COL27A1_uc004bii.3_Non-coding_Transcript|COL27A1_uc011lxn.2_Missense_Mutation_p.A52T	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.	1737	Fibrillar collagen NC1.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GCCCATCACGGCCTCCAAGGT	0.587000												
GUCY1A3	2982	broad.mit.edu	37	4	156618218	156618218	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:156618218A>C	uc003iov.3	+	3	735	c.199A>C	c.(199-201)Agc>Cgc	p.S67R	GUCY1A3_uc003iou.2_Missense_Mutation_p.S67R|GUCY1A3_uc010iqc.2_Missense_Mutation_p.S67R|GUCY1A3_uc010iqd.3_Missense_Mutation_p.S67R|GUCY1A3_uc003iow.3_Missense_Mutation_p.S67R|GUCY1A3_uc003iox.3_Missense_Mutation_p.S67R|GUCY1A3_uc010iqe.3_5'UTR|GUCY1A3_uc003ioy.3_Missense_Mutation_p.S67R|GUCY1A3_uc003ioz.3_5'UTR|GUCY1A3_uc003ipa.3_Non-coding_Transcript|GUCY1A3_uc003ipb.3_Missense_Mutation_p.S67R	NM_000856	NP_001124157	Q02108	GCYA3_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA.	67					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	p.R66W(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		AACCAGTCGGAGCCGAGTCTA	0.428000												
LPA	4018	broad.mit.edu	37	6	161026078	161026078	+	Splice_Site	SNP	G	G	A	rs139937718	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:161026078G>A	uc003qtl.3	-	19	3065	c.2945_splice	c.e19+1	p.A982_splice		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	3490	Kringle 9.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	ATAGACATACGCATTTGGGTA	0.448000												
NIN	51199	broad.mit.edu	37	14	51259463	51259463	+	Silent	SNP	C	C	T	rs146441468		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:51259463C>T	uc001wyi.3	-	4	593	c.402G>A	c.(400-402)cgG>cgA	p.R134R	NIN_uc001wyj.3_Non-coding_Transcript|NIN_uc001wym.2_Silent_p.R134R|NIN_uc001wyk.3_Silent_p.R134R|NIN_uc001wyo.3_Silent_p.R134R|NIN_uc001wyp.1_Silent_p.R96R	NM_020921	NP_065972	Q8N4C6	NIN_HUMAN	Homo sapiens ninein (GSK3B interacting protein) (NIN), transcript variant 2, mRNA.	134					centrosome localization	centrosome|microtubule	GTP binding|calcium ion binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TGTGTGAAGGCCGCGCTTCTT	0.572000			T	PDGFRB	MPD							
SUV420H1	51111	broad.mit.edu	37	11	67957392	67957392	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:67957392G>A	uc001onm.1	-	1	408	c.152C>T	c.(151-153)tCg>tTg	p.S51L	SUV420H1_uc009yse.1_5'UTR|SUV420H1_uc001onn.1_5'UTR|SUV420H1_uc009ysf.2_5'UTR|SUV420H1_uc001ono.1_Missense_Mutation_p.S51L|SUV420H1_uc010rqa.1_Missense_Mutation_p.S51L	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN	Homo sapiens suppressor of variegation 4-20 homolog 1 (Drosophila) (SUV420H1), transcript variant 1, mRNA.	51					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						ACATCTGTTCGACCTCCTCTC	0.413000												
PDK1	5163	broad.mit.edu	37	2	173429383	173429383	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:173429383G>A	uc002uhs.3	+	3	663	c.563G>A	c.(562-564)cGc>cAc	p.R188H	PDK1_uc010zdz.1_Missense_Mutation_p.R33H|PDK1_uc010zea.1_Non-coding_Transcript|PDK1_uc002uhq.1_Missense_Mutation_p.R208H|PDK1_uc010zeb.2_Missense_Mutation_p.R208H	NM_002610	NP_002601	Q15118	PDK1_HUMAN	Homo sapiens pyruvate dehydrogenase kinase, isozyme 1 (PDK1), nuclear gene encoding mitochondrial protein, mRNA.	188	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|small GTPase mediated signal transduction	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.12)			TACATGAGTCGCATTTCAATT	0.398000									Autosomal Dominant Polycystic Kidney Disease			
SERPINB12	89777	broad.mit.edu	37	18	61225704	61225704	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:61225704G>T	uc010xeo.2	+	1	288	c.288G>T	c.(286-288)gaG>gaT	p.E96D	SERPINB12_uc010xen.2_Intron	NM_080474	NP_536722	Q96P63	SPB12_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 12 (SERPINB12), mRNA.	81					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						AAACGACAGAGCCTCTGGATC	0.443000												
ODZ1	10178	broad.mit.edu	37	X	123556366	123556366	+	Silent	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:123556366G>T	uc010nqy.3	-	23	4291	c.4227C>A	c.(4225-4227)cgC>cgA	p.R1409R	ODZ1_uc011muj.2_Silent_p.R1408R|ODZ1_uc004euj.3_Silent_p.R1402R	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	1402					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						AGTGAATGGGGCGTCCTGCGA	0.493000												
TAF7	6879	broad.mit.edu	37	5	140699196	140699196	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:140699196G>A	uc003ljg.3	-	0	1156	c.416C>T	c.(415-417)cCt>cTt	p.P139L		NM_005642	NP_005633	Q15545	TAF7_HUMAN	Homo sapiens TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 55kDa (TAF7), mRNA.	139					negative regulation of histone acetylation|negative regulation of protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|spermine transport|transcription initiation from RNA polymerase II promoter	Golgi apparatus|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	histone acetyltransferase binding|thyroid hormone receptor binding|transcription coactivator activity|transcription regulatory region DNA binding|vitamin D receptor binding			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTCTTTAGAGGCAGAGTAAT	0.408000												
MPPE1	65258	broad.mit.edu	37	18	11884615	11884615	+	Silent	SNP	C	C	T	rs146567173		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:11884615C>T	uc002kqf.3	-	10	1816	c.1020G>A	c.(1018-1020)acG>acA	p.T340T	MPPE1_uc002kqg.3_Non-coding_Transcript|MPPE1_uc002kqh.3_Non-coding_Transcript|MPPE1_uc002kqi.3_Non-coding_Transcript|MPPE1_uc002kqn.3_Silent_p.T277T|MPPE1_uc002kqm.3_Silent_p.T277T	NM_023075	NP_075563	Q53F39	MPPE1_HUMAN	Homo sapiens metallophosphoesterase 1 (MPPE1), transcript variant 1, mRNA.	340					ER to Golgi vesicle-mediated transport|GPI anchor biosynthetic process	ER-Golgi intermediate compartment membrane|cis-Golgi network|endoplasmic reticulum exit site|integral to membrane	GPI anchor binding|manganese ion binding|phosphoric diester hydrolase activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						AGTCTGTGGGCGTGATGCTAC	0.532000												
GPR176	11245	broad.mit.edu	37	15	40094085	40094085	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:40094085C>T	uc001zkj.1	-	2	1662	c.796G>A	c.(796-798)Gcc>Acc	p.A266T	GPR176_uc010uck.1_Missense_Mutation_p.A206T	NM_007223	NP_009154	Q14439	GP176_HUMAN	Homo sapiens G protein-coupled receptor 176 (GPR176), mRNA.	266					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity	p.A266A(1)		central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		AGCAGGGTGGCGTGCAGCTCG	0.582000											OREG0023053	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SPEN	23013	broad.mit.edu	37	1	16255155	16255155	+	Missense_Mutation	SNP	G	G	A	rs149173601	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:16255155G>A	uc001axk.1	+	10	2624	c.2420G>A	c.(2419-2421)cGc>cAc	p.R807H	SPEN_uc010obp.1_Missense_Mutation_p.R766H	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	807	Arg-rich.				Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AGAGAGAGACGCTTAATACGG	0.423000												
PADI3	51702	broad.mit.edu	37	1	17596768	17596768	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:17596768C>T	uc001bai.3	+	6	733	c.693C>T	c.(691-693)ggC>ggT	p.G231G		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	Homo sapiens peptidyl arginine deiminase, type III (PADI3), mRNA.	231					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	ATGTGCTGGGCCAAGATAAGG	0.597000												
TOPBP1	11073	broad.mit.edu	37	3	133347516	133347516	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:133347516G>A	uc003eps.3	-	14	2714	c.2582C>T	c.(2581-2583)aCg>aTg	p.T861M	TOPBP1_uc003ept.1_5'Flank	NM_007027	NP_008958	Q92547	TOPB1_HUMAN	Homo sapiens topoisomerase (DNA) II binding protein 1 (TOPBP1), mRNA.	861					DNA repair|response to ionizing radiation	PML body|microtubule organizing center|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						TGAGAGTGGCGTACTCGGTTT	0.473000								Other conserved DNA damage response genes				
DCUN1D4	23142	broad.mit.edu	37	4	52765528	52765528	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:52765528C>T	uc011bzo.2	+	7	738	c.731C>T	c.(730-732)gCg>gTg	p.A244V	DCUN1D4_uc003gze.3_Missense_Mutation_p.A200V|DCUN1D4_uc003gzf.3_Missense_Mutation_p.A200V|DCUN1D4_uc011bzn.2_Missense_Mutation_p.A140V|DCUN1D4_uc003gzg.3_Non-coding_Transcript|DCUN1D4_uc003gzh.3_Non-coding_Transcript	NM_001040402	NP_001035492	Q92564	DCNL4_HUMAN	Homo sapiens DCN1, defective in cullin neddylation 1, domain containing 4 (S. cerevisiae) (DCUN1D4), transcript variant 1, mRNA.	200	DCUN1.									endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)			TACAGATATGCGTTTGACTTT	0.353000												
RNF31	55072	broad.mit.edu	37	14	24618731	24618731	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:24618731C>T	uc001wmn.1	+	5	997	c.748C>T	c.(748-750)Cgt>Tgt	p.R250C	PSME2_uc001wmj.3_5'Flank|RNF31_uc001wml.1_Missense_Mutation_p.R99C|RNF31_uc001wmm.1_Intron|RNF31_uc010alg.1_Missense_Mutation_p.R65C|RNF31_uc001wmo.1_5'Flank|RNF31_uc001wmp.3_5'Flank	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN	Homo sapiens ring finger protein 31 (RNF31), mRNA.	250	Polyubiquitin-binding.				CD40 signaling pathway|T cell receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination	CD40 receptor complex|LUBAC complex|internal side of plasma membrane	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		ACACCCATCCCGTGCTCATCA	0.607000												
GLIPR2	152007	broad.mit.edu	37	9	36162402	36162402	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:36162402C>T	uc003zyz.3	+	4	382	c.348C>T	c.(346-348)ggC>ggT	p.G116G	GLIPR2_uc010mlf.1_3'UTR|GLIPR2_uc003zyy.1_Intron|GLIPR2_uc003zza.3_Non-coding_Transcript	NM_022343	NP_071738	Q9H4G4	GAPR1_HUMAN	Homo sapiens GLI pathogenesis-related 2 (GLIPR2), mRNA.	116				TGHFTAMVWKNTKKMGVGKASASDGSSFVVARYFPAGNVVN EGFFEENVLPPKK -> IRFFFFNFLLFLSKPLLYFSYF (in Ref. 3; BAC11019).		Golgi membrane|extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(3)	10						AGAAGATGGGCGTGGGGAAGG	0.562000												
ARL4A	10124	broad.mit.edu	37	7	12727924	12727924	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:12727924G>A	uc003ssp.3	+	1	351	c.45G>A	c.(43-45)ctG>ctA	p.L15L	ARL4A_uc003ssq.3_Silent_p.L15L|ARL4A_uc021zzq.1_Silent_p.L15L|ARL4A_uc003sss.3_Silent_p.L15L|ARL4A_uc021zzr.1_Silent_p.L15L	NM_001037164	NP_997625	P40617	ARL4A_HUMAN	Homo sapiens ADP-ribosylation factor-like 4A (ARL4A), transcript variant 3, mRNA.	15					small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|protein binding			NS(2)|lung(3)|ovary(1)	6				UCEC - Uterine corpus endometrioid carcinoma (126;0.176)		TGTCCAACCTGCCTTCATTTC	0.413000												
IFNAR2	3455	broad.mit.edu	37	21	34640721	34640721	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr21:34640721C>T	uc002yrl.1	+	0	489	c.78C>T	c.(76-78)ccC>ccT	p.P26P	IFNAR2_uc002yri.1_Intron|IFNAR2_uc002yrh.1_Silent_p.P94P|LOC100288432_uc002yrj.2_5'Flank|IFNAR2_uc002yrk.1_Silent_p.P24P	NM_000628	NP_000619	P48551	INAR2_HUMAN	Homo sapiens interleukin 10 receptor, beta (IL10RB), mRNA.	0					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	TACCACCTCCCGAAAATGTCA	0.403000												
DDX41	51428	broad.mit.edu	37	5	176941755	176941755	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:176941755G>A	uc003mho.3	-	8	903	c.882C>T	c.(880-882)tgC>tgT	p.C294C	DDX41_uc003mhn.3_Silent_p.C163C|DDX41_uc003mhp.3_Silent_p.C163C|DDX41_uc003mhq.1_Silent_p.C74C	NM_016222	NP_057306	Q9UJV9	DDX41_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 41 (DDX41), mRNA.	294	Helicase ATP-binding.				apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding|zinc ion binding					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			TGCAGAGGGCGCAGCGCAGGA	0.657000												
ZGPAT	84619	broad.mit.edu	37	20	62366007	62366007	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:62366007G>A	uc002ygk.3	+	4	1071	c.882G>A	c.(880-882)tcG>tcA	p.S294S	ZGPAT_uc002ygi.2_Intron|ZGPAT_uc010gkk.2_Intron|ZGPAT_uc010gkl.2_Intron|ZGPAT_uc002ygm.3_Intron|ZGPAT_uc002ygj.2_Intron|ZGPAT_uc002ygn.4_Intron|ZGPAT_uc011abi.2_5'Flank|ZGPAT_uc002ygp.4_5'Flank	NM_032527	NP_115916	Q8N5A5	ZGPAT_HUMAN	Homo sapiens zinc finger, CCCH-type with G patch domain (ZGPAT), transcript variant 1, mRNA.	294					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)					TGGTGGGGTCGGACGCCGTGG	0.617000												
PRKRA	8575	broad.mit.edu	37	2	179312289	179312289	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:179312289G>A	uc002umf.3	-	2	461	c.260C>T	c.(259-261)gCg>gTg	p.A87V	MIR548N_uc021vsx.1_Intron|PRKRA_uc002umd.3_Missense_Mutation_p.A62V|PRKRA_uc002ume.3_Missense_Mutation_p.A76V|PRKRA_uc002umg.3_5'UTR	NM_003690	NP_001132990	O75569	PRKRA_HUMAN	Homo sapiens protein kinase, interferon-inducible double stranded RNA dependent activator (PRKRA), transcript variant 1, mRNA.	87	DRBM 1.|Sufficient for self-association and interaction with TARBP2.				immune response|negative regulation of cell proliferation|production of siRNA involved in RNA interference|response to virus	perinuclear region of cytoplasm	double-stranded RNA binding|enzyme activator activity|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)			TCTATGTTTCGCCAGCTTCTT	0.353000												
TRANK1	9881	broad.mit.edu	37	3	36873381	36873381	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:36873381G>T	uc003cgj.3	-	20	7809	c.7561C>A	c.(7561-7563)Ctg>Atg	p.L2521M		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2521					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						ACCAAGCACAGCACCAGTGTC	0.527000												
EPS8L2	64787	broad.mit.edu	37	11	722405	722405	+	Missense_Mutation	SNP	T	T	C	rs142316225		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:722405T>C	uc001lqt.3	+	12	1311	c.1064T>C	c.(1063-1065)gTc>gCc	p.V355A	EPS8L2_uc001lqu.3_Missense_Mutation_p.V355A|EPS8L2_uc010qwk.2_Missense_Mutation_p.V371A|EPS8L2_uc001lqv.3_Missense_Mutation_p.V310A|EPS8L2_uc001lqw.3_5'UTR|EPS8L2_uc001lqx.3_5'UTR|EPS8L2_uc001lqy.3_5'Flank	NM_022772	NP_073609	Q9H6S3	ES8L2_HUMAN	Homo sapiens EPS8-like 2 (EPS8L2), mRNA.	355						cytoplasm				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCCCAGATCGTCAACACCTGC	0.662000												
SLC5A8	160728	broad.mit.edu	37	12	101588918	101588918	+	Silent	SNP	G	G	A	rs143104107		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:101588918G>A	uc001thz.4	-	3	882	c.492C>T	c.(490-492)ggC>ggT	p.G164G		NM_145913	NP_666018	Q8N695	SC5A8_HUMAN	Homo sapiens solute carrier family 5 (iodide transporter), member 8 (SLC5A8), mRNA.	164					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CCACTACCGCGCCCCACAGAT	0.408000												
DAZAP2	9802	broad.mit.edu	37	12	51636174	51636174	+	Missense_Mutation	SNP	G	G	A	rs144235964		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:51636174G>A	uc010snd.2	+	3	546	c.362G>A	c.(361-363)cGt>cAt	p.R121H	DAZAP2_uc021qxy.1_Missense_Mutation_p.V125I|DAZAP2_uc010snc.2_Missense_Mutation_p.V65I|DAZAP2_uc001ryb.3_Missense_Mutation_p.V147I|DAZAP2_uc010sne.2_Missense_Mutation_p.V115I|DAZAP2_uc010snf.1_Intron	NM_001136266	NP_001129738	Q15038	DAZP2_HUMAN	Homo sapiens DAZ associated protein 2 (DAZAP2), transcript variant 3, mRNA.	17	Pro-rich.						WW domain binding			haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)	6						GGGAGCCAACGTCCTCGTAAC	0.562000												
SRRM4	84530	broad.mit.edu	37	12	119583293	119583293	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:119583293G>A	uc001txa.2	+	8	1267	c.879G>A	c.(877-879)tcG>tcA	p.S293S		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	Homo sapiens serine/arginine repetitive matrix 4 (SRRM4), mRNA.	293	Ser-rich.				RNA splicing|cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing	nucleus	mRNA binding	p.S292S(1)|p.S292A(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						ACACGTCCTCGCCACCCTCCA	0.632000												
KLHL32	114792	broad.mit.edu	37	6	97562260	97562260	+	Missense_Mutation	SNP	G	G	A	rs150244885		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:97562260G>A	uc010kcm.1	+	6	1701	c.1229G>A	c.(1228-1230)cGc>cAc	p.R410H	KLHL32_uc003poy.3_Missense_Mutation_p.R410H|KLHL32_uc003poz.2_Intron|KLHL32_uc011ead.1_Missense_Mutation_p.R374H|KLHL32_uc011eae.1_Missense_Mutation_p.R341H|KLHL32_uc003ppa.2_Intron|MIR548H3_uc021zda.1_Intron	NM_052904	NP_443136	Q96NJ5	KLH32_HUMAN	Homo sapiens kelch-like 32 (Drosophila) (KLHL32), mRNA.	410										breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		AATGAACTGCGCCAGGTTCTG	0.498000												
INPP5A	3632	broad.mit.edu	37	10	134463965	134463965	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:134463965C>T	uc001llp.3	+	3	510	c.262C>T	c.(262-264)Cga>Tga	p.R88*	INPP5A_uc001llo.1_Nonsense_Mutation_p.R88*|INPP5A_uc001llq.3_Nonsense_Mutation_p.R40*	NM_005539	NP_005530	Q14642	I5P1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 40kDa (INPP5A), mRNA.	88					cell communication	membrane	PH domain binding|inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity			cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		TAACAGGGCTCGAGTCTACCT	0.527000												
GPI	2821	broad.mit.edu	37	19	34856175	34856175	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:34856175G>A	uc002nvf.3	+	1	291	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	GPI_uc010xrv.2_Missense_Mutation_p.A41T|GPI_uc002nvg.2_Missense_Mutation_p.A2T|GPI_uc010xrw.2_Missense_Mutation_p.A2T|GPI_uc002nvh.1_5'UTR	NM_000175	NP_000166	P06744	G6PI_HUMAN	Homo sapiens glucose-6-phosphate isomerase (GPI), transcript variant 2, mRNA.	2					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					TCCCGCCATGGCCGCTCTCAC	0.682000												
RYR1	6261	broad.mit.edu	37	19	38945909	38945909	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:38945909G>A	uc002oit.3	+	13	1605	c.1475G>A	c.(1474-1476)cGc>cAc	p.R492H	RYR1_uc002oiu.3_Missense_Mutation_p.R492H	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	492					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TGCATAGACCGCCTAAATGTC	0.502000												
RBMX2	51634	broad.mit.edu	37	X	129546773	129546773	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:129546773G>A	uc004evt.3	+	5	984	c.920G>A	c.(919-921)cGc>cAc	p.R307H		NM_016024	NP_057108	Q9Y388	RBMX2_HUMAN	Homo sapiens RNA binding motif protein, X-linked 2 (RBMX2), mRNA.	307	Arg-rich.			SSDAHSSWYNGRSEGRSYRSRSRSRDKSHRHKRARRSRERE SSNPSDRWRH -> LQMHILAGIMGVLKGVVIEVEVGAEIN PIGIKGPDAPGRGVLRIPVTVGVTEDFSCTVDLEIIMFFKC SQIQLGGYYFCI (in Ref. 1; AAD34074).			RNA binding|nucleotide binding	p.R306*(1)		breast(4)|endometrium(2)|large_intestine(1)|liver(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	19						AGGGCCCGACGCTCCCGGGAG	0.473000												
DPF3	8110	broad.mit.edu	37	14	73159844	73159844	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:73159844C>T	uc001xnc.2	-	6	695	c.682G>A	c.(682-684)Gat>Aat	p.D228N	DPF3_uc001xnd.1_Non-coding_Transcript|DPF3_uc001xnf.2_Non-coding_Transcript|DPF3_uc010ari.1_Missense_Mutation_p.D228N|DPF3_uc010ttq.1_Missense_Mutation_p.D238N	NM_012074	NP_036206	Q92784	DPF3_HUMAN	Homo sapiens D4, zinc and double PHD fingers, family 3 (DPF3), mRNA.	228					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		TGAGCTTCATCCCCCTCCTCG	0.552000												
ACTG2	72	broad.mit.edu	37	2	74136221	74136221	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:74136221G>A	uc002sjw.3	+	4	528	c.406G>A	c.(406-408)Gcc>Acc	p.A136T	ACTG2_uc010yrn.2_Missense_Mutation_p.A93T|ACTG2_uc010fey.3_Missense_Mutation_p.A136T	NM_001615	NP_001606	P63267	ACTH_HUMAN	Homo sapiens actin, gamma 2, smooth muscle, enteric (ACTG2), transcript variant 1, mRNA.	136					muscle contraction	cytoskeleton|cytosol	ATP binding			large_intestine(3)|lung(14)|skin(1)	18						CATGTACGTCGCCATTCAAGC	0.453000												
IFNA16	3449	broad.mit.edu	37	9	21217077	21217077	+	Silent	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:21217077G>T	uc003zor.1	-	0	234	c.228C>A	c.(226-228)gcC>gcA	p.A76A	IFNA14_uc003zoo.1_Intron	NM_002173	NP_002164	P05015	IFN16_HUMAN	Homo sapiens interferon, alpha 16 (IFNA16), mRNA.	76					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		AGGCAGAGATGGCTTGAGCCT	0.473000												
DNAH8	1769	broad.mit.edu	37	6	38840416	38840416	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:38840416C>T	uc021yzh.1	+	49	7204	c.7095C>T	c.(7093-7095)tgC>tgT	p.C2365C	DNAH8_uc003ooe.2_Silent_p.C2148C	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											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						AAACAGAATGCGGAAGGCCTC	0.483000												
ARHGEF1	9138	broad.mit.edu	37	19	42409386	42409386	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:42409386G>A	uc002orx.3	+	23	2418	c.2309G>A	c.(2308-2310)cGc>cAc	p.R770H	ARHGEF1_uc002ory.3_Missense_Mutation_p.R737H|ARHGEF1_uc002orz.3_Missense_Mutation_p.R608H|ARHGEF1_uc002osa.3_Missense_Mutation_p.R785H|ARHGEF1_uc002osb.3_Missense_Mutation_p.R752H|ARHGEF1_uc002osc.3_Missense_Mutation_p.R524H|ARHGEF1_uc002osd.3_Missense_Mutation_p.R429H	NM_004706	NP_004697	Q92888	ARHG1_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 1 (ARHGEF1), transcript variant 2, mRNA.	770					Rho protein signal transduction|cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein binding			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		CCTGCCTCTCGCCCTAAGCCC	0.667000												
CCT7	10574	broad.mit.edu	37	2	73478490	73478490	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:73478490G>A	uc002siz.3	+	10	1483	c.1340G>A	c.(1339-1341)cGc>cAc	p.R447H	CCT7_uc010yrf.2_Missense_Mutation_p.R403H|CCT7_uc010yrh.2_Missense_Mutation_p.R319H|CCT7_uc010yrg.2_Missense_Mutation_p.R347H|CCT7_uc010yri.2_Missense_Mutation_p.R360H|CCT7_uc002sja.3_Missense_Mutation_p.R243H	NM_006429	NP_001159757	Q99832	TCPH_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 7 (eta) (CCT7), transcript variant 1, mRNA.	447					'de novo' posttranslational protein folding		ATP binding|unfolded protein binding			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						ATTATCCCACGCCAGCTGTGT	0.537000												
PPP1R3A	5506	broad.mit.edu	37	7	113558550	113558550	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:113558550T>A	uc010ljy.1	-	0	533	c.502A>T	c.(502-504)Aca>Tca	p.T168S		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	168	CBM21.				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						TCATAATGTGTCTGCCAGTCA	0.343000												
KIAA1429	25962	broad.mit.edu	37	8	95523709	95523709	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:95523709G>A	uc003ygo.2	-	12	3165	c.3094C>T	c.(3094-3096)Cgt>Tgt	p.R1032C	KIAA1429_uc003ygp.3_Missense_Mutation_p.R1032C|KIAA1429_uc010maz.2_Non-coding_Transcript	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	Homo sapiens KIAA1429 (KIAA1429), transcript variant 1, mRNA.	1032					RNA splicing|mRNA processing	nucleus		p.R1032H(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			GAAGGAACACGCATGTCCTTA	0.423000												
ZNF831	128611	broad.mit.edu	37	20	57768478	57768478	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:57768478G>A	uc002yan.3	+	0	2404	c.2404G>A	c.(2404-2406)Gcc>Acc	p.A802T		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	802						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CTGCCTGTGGGCCCAGACTGT	0.627000												
SACS	26278	broad.mit.edu	37	13	23908271	23908271	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:23908271C>T	uc001uon.2	-	9	10333	c.9744G>A	c.(9742-9744)tgG>tgA	p.W3248*	SACS_uc001uoo.2_Nonsense_Mutation_p.W3101*|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	3248			W -> R (in SACS).		cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TAATAAAATGCCATGCATTCT	0.368000												
KBTBD10	10324	broad.mit.edu	37	2	170344508	170344508	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:170344508C>T	uc010zdh.1	+	4	328	c.270C>T	c.(268-270)ggC>ggT	p.G90G	KBTBD10_uc002uet.3_Silent_p.G90G|KBTBD10_uc010fpw.3_Silent_p.G90G	NM_152384	NP_689597	O60662	KBTBA_HUMAN	Homo sapiens Bardet-Biedl syndrome 5 (BBS5), mRNA.	0	BTB.				striated muscle contraction	centrosome|nucleolus|plasma membrane|pseudopodium|ruffle				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|urinary_tract(1)	19						AATTACGAGGCCAAACTGAAG	0.299000												
MFSD10	10227	broad.mit.edu	37	4	2933868	2933868	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:2933868C>T	uc003gfw.3	-	5	1020	c.706G>A	c.(706-708)Gcc>Acc	p.A236T	MFSD10_uc021xks.1_Missense_Mutation_p.A160T|MFSD10_uc003gfz.3_Missense_Mutation_p.A236T|NOP14-AS1_uc003ggd.1_5'Flank|NOP14-AS1_uc003gge.1_5'Flank	NM_001120	NP_001139541	Q14728	MFS10_HUMAN	Homo sapiens major facilitator superfamily domain containing 10 (MFSD10), transcript variant 1, mRNA.	236					apoptosis	integral to membrane	tetracycline transporter activity			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		AACCCCAGGGCGATAGAGGGC	0.662000												
ITGB3	3690	broad.mit.edu	37	17	45368350	45368350	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:45368350C>T	uc002ilj.3	+	8	1176	c.1156C>T	c.(1156-1158)Cgt>Tgt	p.R386C	ITGB3_uc002ili.1_Missense_Mutation_p.R386C|ITGB3_uc010wkr.1_Non-coding_Transcript	NM_000212	NP_000203	P05106	ITB3_HUMAN	Homo sapiens integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) (ITGB3), mRNA.	386					activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|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|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	GCTGGAAGTGCGTGACCTCCC	0.473000												
RASAL1	8437	broad.mit.edu	37	12	113545988	113545988	+	Nonsense_Mutation	SNP	G	G	A	rs145374624		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:113545988G>A	uc001tun.2	-	14	1718	c.1417C>T	c.(1417-1419)Cga>Tga	p.R473*	RASAL1_uc010syp.2_Nonsense_Mutation_p.R472*|RASAL1_uc001tul.3_Nonsense_Mutation_p.R472*|RASAL1_uc001tum.2_Nonsense_Mutation_p.R472*|RASAL1_uc010syq.2_Nonsense_Mutation_p.R472*|RASAL1_uc001tuo.4_Nonsense_Mutation_p.R472*|RASAL1_uc010syr.2_Nonsense_Mutation_p.R472*	NM_001193520	NP_001180449	O95294	RASL1_HUMAN	Homo sapiens RAS protein activator like 1 (GAP1 like) (RASAL1), transcript variant 1, mRNA.	472	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|metal ion binding|phospholipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						GCGAAGAATCGCAAGAAGAGA	0.557000												
MIOS	54468	broad.mit.edu	37	7	7636049	7636049	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:7636049G>A	uc003srf.3	+	10	2666	c.2358G>A	c.(2356-2358)gcG>gcA	p.A786A	MIOS_uc003srg.3_Silent_p.A321A|MIOS_uc010ktq.3_Silent_p.A181A	NM_019005	NP_061878	Q9NXC5	MIO_HUMAN	Homo sapiens missing oocyte, meiosis regulator, homolog (Drosophila) (MIOS), mRNA.	786										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTCGATGTGCGCTTTGTCTCA	0.393000												
ST8SIA3	51046	broad.mit.edu	37	18	55020138	55020138	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:55020138G>A	uc002lgn.3	+	0	418	c.61G>A	c.(61-63)Gcc>Acc	p.A21T		NM_015879	NP_056963	O43173	SIA8C_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 (ST8SIA3), mRNA.	21					N-glycan processing|glycosphingolipid biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		GCTCAGCGTCGCCCTGCTGAT	0.592000												
ESAM	90952	broad.mit.edu	37	11	124624540	124624540	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:124624540T>C	uc001qav.4	-	4	900	c.727A>G	c.(727-729)Aca>Gca	p.T243A	VSIG2_uc001qas.3_5'Flank|VSIG2_uc001qat.3_5'Flank|ESAM_uc010sao.2_Missense_Mutation_p.T64A|ESAM_uc001qau.4_Missense_Mutation_p.T170A|ESAM_uc001qaw.4_Non-coding_Transcript|ESAM_uc001qax.4_Non-coding_Transcript	NM_138961	NP_620411	Q96AP7	ESAM_HUMAN	Homo sapiens endothelial cell adhesion molecule (ESAM), mRNA.	243					blood coagulation|leukocyte migration	adherens junction|integral to membrane|tight junction				endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022)		CACTGACCTGTGCTCACTTCC	0.557000												
TSEN2	80746	broad.mit.edu	37	3	12544798	12544798	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:12544798C>T	uc003bxc.3	+	4	733	c.346C>T	c.(346-348)Cgt>Tgt	p.R116C	TSEN2_uc003bwz.3_Missense_Mutation_p.R116C|TSEN2_uc003bxa.3_Missense_Mutation_p.R116C|TSEN2_uc011auq.1_Missense_Mutation_p.R116C|TSEN2_uc003bxb.3_Missense_Mutation_p.R116C|TSEN2_uc011aur.1_Missense_Mutation_p.R25C	NM_025265	NP_079541	Q8NCE0	SEN2_HUMAN	Homo sapiens tRNA splicing endonuclease 2 homolog (S. cerevisiae) (TSEN2), transcript variant 1, mRNA.	116					mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity			central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						AGAGCTGATGCGTAGACAGGG	0.453000												
RUNX1T1	862	broad.mit.edu	37	8	92998493	92998493	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:92998493G>A	uc022axs.1	-	8	1502	c.1315C>T	c.(1315-1317)Cgg>Tgg	p.R439W	RUNX1T1_uc003yfc.2_Missense_Mutation_p.R353W|RUNX1T1_uc010mam.3_Missense_Mutation_p.R353W|RUNX1T1_uc003yfe.2_Missense_Mutation_p.R343W|RUNX1T1_uc003yfd.3_Missense_Mutation_p.R380W|RUNX1T1_uc022axo.1_Missense_Mutation_p.R380W|RUNX1T1_uc010mao.3_Missense_Mutation_p.R353W|RUNX1T1_uc011lgi.2_Missense_Mutation_p.R391W|RUNX1T1_uc022axp.1_Missense_Mutation_p.R380W|RUNX1T1_uc022axq.1_Missense_Mutation_p.R380W|RUNX1T1_uc022axr.1_Missense_Mutation_p.R380W|RUNX1T1_uc022axt.1_Missense_Mutation_p.R380W|RUNX1T1_uc022axu.1_Missense_Mutation_p.R360W|RUNX1T1_uc022axv.1_Missense_Mutation_p.R380W|RUNX1T1_uc010man.2_5'UTR|RUNX1T1_uc003yfb.2_Missense_Mutation_p.R343W	NM_001198679	NP_001185608	Q06455	MTG8_HUMAN	Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA.	380					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TCTTGACACCGCCTTAGTACG	0.478000												
PPYR1	5540	broad.mit.edu	37	10	47086901	47086901	+	Missense_Mutation	SNP	G	G	A	rs148605550	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:47086901G>A	uc001jee.3	+	2	537	c.118G>A	c.(118-120)Gtg>Atg	p.V40M	ANXA8L1_uc001jed.4_Intron|PPYR1_uc009xna.3_Missense_Mutation_p.V40M|PPYR1_uc021ppu.1_Missense_Mutation_p.V40M	NM_005972	NP_005963	P50391	NPY4R_HUMAN	Homo sapiens pancreatic polypeptide receptor 1 (PPYR1), mRNA.	40					blood circulation|digestion|feeding behavior	integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TTCCGTGGACGTGATGGTCTT	0.532000												
MOG	4340	broad.mit.edu	37	6	29638111	29638111	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:29638111C>T	uc003nnf.3	+	5	875	c.646C>T	c.(646-648)Ccg>Tcg	p.P216S	MOG_uc003nmy.2_Missense_Mutation_p.P216S|MOG_uc003nna.3_Missense_Mutation_p.P100S|MOG_uc011dlt.2_Missense_Mutation_p.P146S|MOG_uc011dlv.2_Intron|MOG_uc011dlu.2_Intron|MOG_uc003nne.3_Missense_Mutation_p.P216S|MOG_uc003nng.3_Intron|MOG_uc003nni.3_Intron|MOG_uc003nnh.3_Intron|MOG_uc003nnj.3_Intron|MOG_uc003nnk.3_Intron	NM_206809	NP_996532	Q16653	MOG_HUMAN	Homo sapiens myelin oligodendrocyte glycoprotein (MOG), transcript variant alpha1, mRNA.	216					cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						TGTAATTGTGCCGGTTCTTGG	0.507000												
MACC1	346389	broad.mit.edu	37	7	20199427	20199427	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:20199427C>T	uc003sus.4	-	4	866	c.557G>A	c.(556-558)cGc>cAc	p.R186H	MACC1_uc010kug.3_Missense_Mutation_p.R186H	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	Homo sapiens metastasis associated in colon cancer 1 (MACC1), mRNA.	186					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity	p.R186H(2)		endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						GGCCAGCTGGCGTTGACTTAA	0.478000												
THSD7B	80731	broad.mit.edu	37	2	137928508	137928508	+	Splice_Site	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:137928508G>A	uc002tva.1	+	6	1630	c.1630_splice	c.e6+1	p.G544_splice	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Splice_Site_p.G434_splice	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GAATGACCGCGGTATGACCCA	0.488000												
STOX1	219736	broad.mit.edu	37	10	70644504	70644504	+	Missense_Mutation	SNP	C	C	T	rs149218532	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:70644504C>T	uc001jos.2	+	2	1039	c.952C>T	c.(952-954)Cgc>Tgc	p.R318C	STOX1_uc001joq.3_Missense_Mutation_p.R208C|STOX1_uc001jor.3_Intron|STOX1_uc009xpy.3_Intron|STOX1_uc021prw.1_Missense_Mutation_p.R208C	NM_001130161	NP_689922	Q6ZVD7	STOX1_HUMAN	Homo sapiens storkhead box 1 (STOX1), transcript variant 2, mRNA.	318						cytoplasm|nucleolus	DNA binding	p.R318H(1)		breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						TCTCTTATGGCGCAGCTTATC	0.453000												
BTBD6	90135	broad.mit.edu	37	14	105716187	105716187	+	Silent	SNP	C	C	T	rs147665481	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:105716187C>T	uc010tyq.2	+	4	744	c.636C>T	c.(634-636)gaC>gaT	p.D212D	BRF1_uc010tyo.1_Intron|BRF1_uc010typ.1_Intron|BRF1_uc001yql.2_5'Flank|BRF1_uc001yqo.2_5'Flank|BRF1_uc001yqp.2_Intron|BRF1_uc010axg.1_Intron|BRF1_uc001yqn.2_5'Flank|BRF1_uc010axh.1_5'Flank|BRF1_uc010axj.1_5'Flank	NM_033271	NP_150374	Q96KE9	BTBD6_HUMAN	Homo sapiens BTB (POZ) domain containing 6 (BTBD6), mRNA.	212						cytoplasmic mRNA processing body				endometrium(1)|lung(3)	4		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.0163)|Epithelial(46;0.0391)	Epithelial(152;0.18)		AGGTCATTGACGCACAGGCCG	0.607000												
C6orf62	81688	broad.mit.edu	37	6	24714622	24714622	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:24714622C>T	uc003nel.3	-	2	860	c.353G>A	c.(352-354)cGg>cAg	p.R118Q		NM_030939	NP_112201	Q9GZU0	CF062_HUMAN	Homo sapiens chromosome 6 open reading frame 62 (C6orf62), mRNA.	118						intracellular		p.R118W(1)		endometrium(2)|kidney(3)|large_intestine(2)|lung(3)	10						AATATCATTCCGAGGCCAAAG	0.343000												
TRIO	7204	broad.mit.edu	37	5	14367023	14367023	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:14367023G>A	uc003jff.3	+	15	2815	c.2809G>A	c.(2809-2811)Gcc>Acc	p.A937T	TRIO_uc003jfg.3_Non-coding_Transcript|TRIO_uc011cna.1_Missense_Mutation_p.A888T|TRIO_uc003jfh.1_Missense_Mutation_p.A586T	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	937					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					ACTTATCACAGCCAGCTCGTT	0.547000												
PPIE	10450	broad.mit.edu	37	1	40205879	40205879	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:40205879C>T	uc001cds.2	+	1	130	c.74C>T	c.(73-75)gCg>gTg	p.A25V	PPIE_uc010oiy.2_5'UTR|PPIE_uc001cdt.2_5'UTR|PPIE_uc001cdu.2_Non-coding_Transcript|PPIE_uc001cdw.3_Missense_Mutation_p.A25V|PPIE_uc001cdv.3_Missense_Mutation_p.A25V|PPIE_uc001cdx.2_5'Flank	NM_006112	NP_006103	Q9UNP9	PPIE_HUMAN	Homo sapiens peptidylprolyl isomerase E (cyclophilin E) (PPIE), transcript variant 1, mRNA.	25	RRM.				protein folding|regulation of transcription, DNA-dependent	catalytic step 2 spliceosome	RNA binding|cyclosporin A binding|nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|protein binding			kidney(3)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	9	all_cancers(7;1.63e-13)|all_lung(5;2.27e-16)|all_epithelial(6;1.35e-15)|Lung NSC(20;1.49e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;2.7e-17)|all cancers(16;5.5e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CTTCATGCTGCGTTCATTCCT	0.453000												
RREB1	6239	broad.mit.edu	37	6	7247285	7247285	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:7247285C>T	uc003mxb.3	+	11	5094	c.4602C>T	c.(4600-4602)agC>agT	p.S1534S	RREB1_uc021yky.1_Silent_p.S1479S|RREB1_uc003mxc.3_Silent_p.S1479S|RREB1_uc010jnx.3_Intron|RREB1_uc021ykz.1_Intron|RREB1_uc021yla.1_Intron	NM_001003699	NP_001003699	Q92766	RREB1_HUMAN	Homo sapiens ras responsive element binding protein 1 (RREB1), transcript variant 1, mRNA.	1479					Ras protein signal transduction|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				ACGGGGAGAGCGCGGCCGAGA	0.662000												
FHOD3	80206	broad.mit.edu	37	18	34310720	34310720	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:34310720G>A	uc021uiv.1	+	19	3626	c.3529G>A	c.(3529-3531)Gcc>Acc	p.A1177T	FHOD3_uc002kzs.1_Missense_Mutation_p.A1002T|FHOD3_uc002kzt.1_Missense_Mutation_p.A985T|FHOD3_uc010dmz.1_Missense_Mutation_p.A717T|FHOD3_uc010dnb.1_5'UTR	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	Homo sapiens formin homology 2 domain containing 3 (FHOD3), mRNA.	985	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				GATTAAGATCGCCATTTTGAA	0.398000												
SOX5	6660	broad.mit.edu	37	12	23687401	23687401	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:23687401C>T	uc001rfw.3	-	14	2146	c.2044G>A	c.(2044-2046)Gcc>Acc	p.A682T	SOX5_uc001rfx.3_Missense_Mutation_p.A669T|SOX5_uc001rfy.3_Missense_Mutation_p.A561T|SOX5_uc001rfv.3_Missense_Mutation_p.A296T|SOX5_uc010siv.2_Missense_Mutation_p.A669T	NM_006940	NP_694534	P35711	SOX5_HUMAN	Homo sapiens SRY (sex determining region Y)-box 5 (SOX5), transcript variant 1, mRNA.	682					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.A682T(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						CCAGCCATGGCGATGGCTCCA	0.552000												
ZFP64	55734	broad.mit.edu	37	20	50781293	50781293	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:50781293C>G	uc002xwl.3	-	3	801	c.452G>C	c.(451-453)tGc>tCc	p.C151S	ZFP64_uc002xwk.3_Missense_Mutation_p.C151S|ZFP64_uc002xwm.3_Missense_Mutation_p.C149S|ZFP64_uc002xwn.3_Missense_Mutation_p.C97S	NM_018197	NP_060667	Q9NPA5	ZF64A_HUMAN	Homo sapiens zinc finger protein 64 homolog (mouse) (ZFP64), transcript variant 1, mRNA.	151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C151F(4)|p.C151Y(4)		breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						CTTGAATTGGCAACCTAAAAA	0.378000												
VAMP7	6845	broad.mit.edu	37	X	155169438	155169438	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:155169438T>A	uc004fnr.3	+	6	753	c.575T>A	c.(574-576)aTc>aAc	p.I192N	VAMP7_uc011naa.2_Missense_Mutation_p.I153N|VAMP7_uc011nab.2_Missense_Mutation_p.I91N|VAMP7_uc004fnt.3_Missense_Mutation_p.I151N|VAMP7_uc004fns.3_Nonsense_Mutation_p.Y169*|VAMP7_uc011nac.2_Missense_Mutation_p.I125N	NM_005638	NP_005629	P51809	VAMP7_HUMAN	Homo sapiens vesicle-associated membrane protein 7 (VAMP7), transcript variant 1, mRNA.	192					ER to Golgi vesicle-mediated transport|calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion	Golgi apparatus|SNARE complex|endoplasmic reticulum membrane|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|transport vesicle membrane	protein binding			large_intestine(1)|lung(8)	9	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)					CTCACTATTATCATCATCATC	0.338000												
KRT13	3860	broad.mit.edu	37	17	39661466	39661466	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:39661466C>T	uc002hwu.1	-	0	400	c.337G>A	c.(337-339)Gac>Aac	p.D113N	KRT13_uc002hwv.1_Missense_Mutation_p.D113N|KRT13_uc010wfr.2_Missense_Mutation_p.D6N|KRT13_uc010cxo.3_Missense_Mutation_p.D113N|KRT13_uc021txk.1_Missense_Mutation_p.D6N	NM_153490	NP_705694	P13646	K1C13_HUMAN	Homo sapiens keratin 13 (KRT13), transcript variant 1, mRNA.	113	Coil 1A.|Rod.				epidermis development	intermediate filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				GCCAGGCGGTCGTTGAGGTTC	0.592000												
ALCAM	214	broad.mit.edu	37	3	105252485	105252485	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:105252485C>T	uc003dvx.3	+	4	1194	c.498C>T	c.(496-498)ggC>ggT	p.G166G	ALCAM_uc003dvw.2_Silent_p.G166G|ALCAM_uc003dvy.3_Silent_p.G166G|ALCAM_uc011bhh.1_Silent_p.G115G|ALCAM_uc010hpp.3_5'UTR	NM_001627	NP_001618	Q13740	CD166_HUMAN	Homo sapiens activated leukocyte cell adhesion molecule (ALCAM), transcript variant 1, mRNA.	166	Ig-like V-type 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						ATCCAGATGGCAATATCACAT	0.453000												
SMOC1	64093	broad.mit.edu	37	14	70496965	70496965	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:70496965G>A	uc001xlt.2	+	11	1580	c.1298G>A	c.(1297-1299)cGc>cAc	p.R433H	SMOC1_uc001xls.2_Missense_Mutation_p.R432H	NM_001034852	NP_001030024	Q9H4F8	SMOC1_HUMAN	Homo sapiens SPARC related modular calcium binding 1 (SMOC1), transcript variant 1, mRNA.	432					cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		TCAGTAGGACGCCTCGTCTAA	0.507000												
LRRC8A	56262	broad.mit.edu	37	9	131671260	131671260	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:131671260T>A	uc004bwl.4	+	2	2071	c.1817T>A	c.(1816-1818)aTc>aAc	p.I606N	LRRC8A_uc010myp.3_Missense_Mutation_p.I606N|LRRC8A_uc010myq.3_Missense_Mutation_p.I606N	NM_019594	NP_062540	Q8IWT6	LRC8A_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member A (LRRC8A), transcript variant 2, mRNA.	606					pre-B cell differentiation	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						CTGGAGCGCATCCCCCACTCC	0.552000												
OR6M1	390261	broad.mit.edu	37	11	123676505	123676505	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:123676505C>T	uc010rzz.2	-	0	553	c.553G>A	c.(553-555)Gcc>Acc	p.A185T		NM_001005325	NP_001005325	Q8NGM8	OR6M1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily M, member 1 (OR6M1), mRNA.	185					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		TTTATACAGGCCACCTGAAGA	0.443000												
RALGPS2	55103	broad.mit.edu	37	1	178855202	178855202	+	Missense_Mutation	SNP	C	C	T	rs149978883		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:178855202C>T	uc001glz.3	+	12	1477	c.1139C>T	c.(1138-1140)gCg>gTg	p.A380V	RALGPS2_uc010pnb.2_Missense_Mutation_p.A380V	NM_152663	NP_689876	Q86X27	RGPS2_HUMAN	Homo sapiens Ral GEF with PH domain and SH3 binding motif 2 (RALGPS2), mRNA.	380					small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						GAGCCCCATGCGCCATCTCGA	0.393000												
ZNF770	54989	broad.mit.edu	37	15	35274899	35274899	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:35274899G>A	uc001ziw.3	-	2	1091	c.737C>T	c.(736-738)gCt>gTt	p.A246V	ZNF770_uc021siy.1_Missense_Mutation_p.A246V	NM_014106	NP_054825	Q6IQ21	ZN770_HUMAN	Homo sapiens zinc finger protein 770 (ZNF770), mRNA.	246					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R245W(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		TAATAAAAGAGCCCGAAAAGC	0.368000												
ASB2	51676	broad.mit.edu	37	14	94417565	94417565	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:94417565G>A	uc001ycd.3	-	5	1030	c.660C>T	c.(658-660)gcC>gcT	p.A220A	ASB2_uc001ycc.2_Silent_p.A172A|ASB2_uc001yce.1_Silent_p.A118A	NM_001202429	NP_001189358	Q96Q27	ASB2_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 2 (ASB2), transcript variant 1, mRNA.	172					intracellular signal transduction					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		GAATCTTCACGGCCTCCGCGT	0.622000												
CCDC127	133957	broad.mit.edu	37	5	205673	205673	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:205673G>A	uc003jam.1	-	2	622	c.522C>T	c.(520-522)tgC>tgT	p.C174C		NM_145265	NP_660308	Q96BQ5	CC127_HUMAN	Homo sapiens coiled-coil domain containing 127 (CCDC127), mRNA.	174										breast(1)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12			all cancers(22;0.0236)|Lung(60;0.113)			GAAACAGACTGCAGTAGATAT	0.522000												
NPPA	4878	broad.mit.edu	37	1	11907202	11907202	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:11907202C>T	uc001ati.3	-	1	517	c.418G>A	c.(418-420)Gcc>Acc	p.A140T	CLCN6_uc010oba.1_Intron|CLCN6_uc010oav.1_Intron|CLCN6_uc010oay.1_Intron|CLCN6_uc010oax.1_Intron|CLCN6_uc010oaw.1_Intron|CLCN6_uc010oaz.1_Intron	NM_006172	NP_006163	P01160	ANF_HUMAN	Homo sapiens natriuretic peptide A (NPPA), mRNA.	140					cGMP biosynthetic process|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size	extracellular region	hormone activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCGCTCTGGGCTCCAATCCTG	0.597000												
SHC1	6464	broad.mit.edu	37	1	154938054	154938054	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:154938054G>A	uc001ffv.3	-	10	1809	c.1588C>T	c.(1588-1590)Cct>Tct	p.P530S	SHC1_uc001ffw.3_Missense_Mutation_p.P531S|SHC1_uc001ffx.3_Missense_Mutation_p.P421S|SHC1_uc001ffy.3_Missense_Mutation_p.P420S|SHC1_uc001ffz.1_Missense_Mutation_p.P301S	NM_183001	NP_001189788	P29353	SHC1_HUMAN	Homo sapiens SHC (Src homology 2 domain containing) transforming protein 1 (SHC1), transcript variant 1, mRNA.	530	SH2.				Ras protein signal transduction|activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|regulation of epidermal growth factor receptor activity|regulation of growth	Shc-EGFR complex|cytosol|mitochondrial matrix	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AAATGCTTAGGCTGCCCACTC	0.582000												
VDR	7421	broad.mit.edu	37	12	48240547	48240547	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:48240547G>A	uc001rql.3	-	7	1351	c.950C>T	c.(949-951)gCc>gTc	p.A317V	VDR_uc001rqm.3_Missense_Mutation_p.A267V|VDR_uc001rqn.3_Missense_Mutation_p.A267V|VDR_uc010slq.2_Missense_Mutation_p.A235V	NM_001017536	NP_001017536	P11473	VDR_HUMAN	Homo sapiens vitamin D (1,25- dihydroxyvitamin D3) receptor (VDR), transcript variant 3, mRNA.	267	Ligand-binding.				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)	GACCTCAATGGCACTTGACTT	0.547000												
ECD	11319	broad.mit.edu	37	10	74916042	74916042	+	Missense_Mutation	SNP	C	C	T	rs149473721		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:74916042C>T	uc009xqx.3	-	4	824	c.581G>A	c.(580-582)cGc>cAc	p.R194H	ECD_uc001jtn.3_Missense_Mutation_p.R194H|ECD_uc009xqy.3_Missense_Mutation_p.R194H|ECD_uc001jto.3_5'UTR	NM_001135752	NP_001129224	O95905	SGT1_HUMAN	Homo sapiens ecdysoneless homolog (Drosophila) (ECD), transcript variant 2, mRNA.	194					regulation of glycolysis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	transcription coactivator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(51;0.0119)					CCCTCTGATGCGCCTATTCAC	0.368000												
MAK	4117	broad.mit.edu	37	6	10809075	10809075	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:10809075C>T	uc021ylk.1	-	5	741	c.459G>A	c.(457-459)caG>caA	p.Q153Q	SYCP2L_uc011dim.1_Intron|TMEM14B_uc010jos.1_Intron|MAK_uc010jot.3_Non-coding_Transcript|MAK_uc010jou.3_Non-coding_Transcript|MAK_uc003mzm.3_Silent_p.Q153Q|MAK_uc021yll.1_Silent_p.Q153Q|MAK_uc010jov.2_Non-coding_Transcript|MAK_uc021ylm.1_Non-coding_Transcript	NM_001242957	NP_001229886	P20794	MAK_HUMAN	Homo sapiens male germ cell-associated kinase (MAK), transcript variant 3, mRNA.	153	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				TGTATGGTGGCTGTGACCTTA	0.423000												
ISL1	3670	broad.mit.edu	37	5	50687126	50687126	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:50687126G>T	uc003jor.3	+	4	1332	c.784G>T	c.(784-786)Gga>Tga	p.G262*		NM_002202	NP_002193	P61371	ISL1_HUMAN	Homo sapiens ISL LIM homeobox 1 (ISL1), mRNA.	262	Gln-rich.				generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				GGGGATGACAGGAACTCCCAT	0.512000												
DNER	92737	broad.mit.edu	37	2	230223321	230223321	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:230223321C>T	uc002vpv.3	-	12	2296	c.2149G>A	c.(2149-2151)Gcc>Acc	p.A717T		NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	Homo sapiens delta/notch-like EGF repeat containing (DNER), mRNA.	717					Notch signaling pathway|central nervous system development|endocytosis|neuron migration|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		TCTTCATAGGCGATGGGGCTC	0.358000												
HMMR	3161	broad.mit.edu	37	5	162910329	162910329	+	Missense_Mutation	SNP	C	C	T	rs140371330	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:162910329C>T	uc003lzh.3	+	14	1923	c.1741C>T	c.(1741-1743)Cgt>Tgt	p.R581C	HMMR_uc003lzf.3_Missense_Mutation_p.R580C|HMMR_uc003lzg.3_Missense_Mutation_p.R565C|HMMR_uc011dem.2_Missense_Mutation_p.R494C|BC035392_uc003lzi.3_Intron	NM_001142556	NP_001136028	O75330	HMMR_HUMAN	Homo sapiens hyaluronan-mediated motility receptor (RHAMM) (HMMR), transcript variant 1, mRNA.	580						cell surface|cytoplasm	hyaluronic acid binding	p.R580C(2)		cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)		TAACAAGTGGCGTCTCCTCTA	0.299000												
MET	4233	broad.mit.edu	37	7	116417481	116417481	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:116417481A>G	uc003vij.3	+	15	3485	c.3298A>G	c.(3298-3300)Aat>Gat	p.N1100D	MET_uc010lkh.3_Missense_Mutation_p.N1118D|MET_uc011knj.2_Missense_Mutation_p.N670D	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	1100	Protein kinase.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	p.N1118Y(1)|p.Q1029_G1105del(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TTTGTTGGACAATGATGGCAA	0.333000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)			
GTF3C1	2975	broad.mit.edu	37	16	27481652	27481652	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:27481652G>A	uc002dov.2	-	30	4631	c.4591C>T	c.(4591-4593)Cgg>Tgg	p.R1531W	GTF3C1_uc002dou.3_Missense_Mutation_p.R1531W	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	1531						transcription factor TFIIIC complex	DNA binding|protein binding	p.R1531Q(1)		breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CCGGCAGCCCGCATTCTGTCC	0.512000												
CDK14	5218	broad.mit.edu	37	7	90747451	90747451	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:90747451A>G	uc003uky.2	+	13	1588	c.1366A>G	c.(1366-1368)Aaa>Gaa	p.K456E	CDK14_uc003ukz.1_Missense_Mutation_p.K438E|CDK14_uc010les.1_Missense_Mutation_p.K410E|CDK14_uc011khl.1_Missense_Mutation_p.K327E	NM_012395	NP_036527	O94921	CDK14_HUMAN	Homo sapiens cyclin-dependent kinase 14 (CDK14), mRNA.	456					G2/M transition of mitotic cell cycle|Wnt receptor signaling pathway|cell division|regulation of canonical Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						GGCCTTTGGGAAAAACAATAG	0.418000												
EP300	2033	broad.mit.edu	37	22	41574331	41574331	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:41574331G>T	uc003azl.4	+	30	7011	c.6616G>T	c.(6616-6618)Gcc>Tcc	p.A2206S		NM_001429	NP_001420	Q09472	EP300_HUMAN	Homo sapiens E1A binding protein p300 (EP300), mRNA.	2206	Interaction with HTLV-1 Tax.|Interaction with NCOA2.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|N-terminal peptidyl-lysine acetylation|apoptosis|cell cycle|histone H4 acetylation|interspecies interaction between organisms|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	DNA binding|RNA polymerase II activating transcription factor binding|androgen receptor binding|beta-catenin binding|histone acetyltransferase activity|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CCCTGGAATGGCCAACCATAA	0.527000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome			
ITFG1	81533	broad.mit.edu	37	16	47294547	47294547	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:47294547G>A	uc002eet.3	-	10	1189	c.1130C>T	c.(1129-1131)gCg>gTg	p.A377V	ITFG1_uc010vgg.2_Missense_Mutation_p.A122V|ITFG1_uc010vgh.2_Missense_Mutation_p.A264V	NM_030790	NP_110417	Q8TB96	TIP_HUMAN	Homo sapiens integrin alpha FG-GAP repeat containing 1 (ITFG1), mRNA.	377						extracellular region|integral to membrane		p.E376K(1)		breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				CATTCGACGCGCCTCTTCACA	0.433000												
NGFR	4804	broad.mit.edu	37	17	47583719	47583719	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:47583719C>T	uc002ioz.4	+	2	392	c.267C>T	c.(265-267)tgC>tgT	p.C89C		NM_002507	NP_002498	P08138	TNR16_HUMAN	Homo sapiens nerve growth factor receptor (NGFR), mRNA.	89					anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					GCACCGAGTGCGTGGGGCTCC	0.672000												
SQLE	6713	broad.mit.edu	37	8	126021249	126021249	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:126021249C>T	uc011liq.2	+	4	1785	c.859C>T	c.(859-861)Ctt>Ttt	p.L287F		NM_003129	NP_003120	Q14534	ERG1_HUMAN	Homo sapiens squalene epoxidase (SQLE), mRNA.	287					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome	flavin adenine dinucleotide binding|squalene monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	TGCAGATGGGCTTTTCTCCAA	0.388000												
GLI4	2738	broad.mit.edu	37	8	144358659	144358659	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:144358659C>T	uc003yxx.3	+	3	901	c.816C>T	c.(814-816)tgC>tgT	p.C272C	ZFP41_uc003yxv.3_Non-coding_Transcript	NM_138465	NP_612474	P10075	GLI4_HUMAN	Homo sapiens GLI family zinc finger 4 (GLI4), mRNA.	272						nucleus	DNA binding|zinc ion binding	p.E271K(1)		endometrium(3)|large_intestine(1)|lung(5)	9	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GCGGCGAGTGCGGCCAGGCCT	0.672000												
PPM1A	5494	broad.mit.edu	37	14	60749747	60749747	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:60749747A>G	uc001xew.4	+	1	641	c.545A>G	c.(544-546)gAt>gGt	p.D182G	PPM1A_uc010apn.3_Missense_Mutation_p.D109G|PPM1A_uc001xex.4_Missense_Mutation_p.D109G|PPM1A_uc001xey.4_Missense_Mutation_p.D109G	NM_177952	NP_808821	P35813	PPM1A_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1A (PPM1A), transcript variant 3, mRNA.	109					Wnt receptor signaling pathway|cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein dephosphorylation	cytosol|nucleus|protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.046)		CTGGAGATTGATGAACACATG	0.393000												
PLG	5340	broad.mit.edu	37	6	161152221	161152221	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:161152221G>A	uc003qtm.4	+	10	1507	c.1395G>A	c.(1393-1395)ccG>ccA	p.P465P		NM_000301	NP_000292	P00747	PLMN_HUMAN	Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	465					extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TAGCACCTCCGCCTGTTGTCC	0.512000												
AKAP12	9590	broad.mit.edu	37	6	151671867	151671867	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:151671867G>A	uc011eep.2	+	3	2581	c.2341G>A	c.(2341-2343)Gaa>Aaa	p.E781K	AKAP12_uc003qoe.3_Missense_Mutation_p.E781K|AKAP12_uc003qof.3_Missense_Mutation_p.E683K|AKAP12_uc010kim.3_Intron|AKAP12_uc003qog.3_Missense_Mutation_p.E676K	NM_005100	NP_005091	Q02952	AKA12_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 12 (AKAP12), transcript variant 1, mRNA.	781	AKAP 2.				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		AGAGAAAAGCGAAGACTCCAT	0.478000												
ATG4D	84971	broad.mit.edu	37	19	10663693	10663693	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:10663693C>T	uc002mov.3	+	9	1495	c.1375C>T	c.(1375-1377)Cgg>Tgg	p.R459W	ATG4D_uc010xlh.2_Missense_Mutation_p.R396W|ATG4D_uc010dxh.3_Non-coding_Transcript|ATG4D_uc010dxi.3_Non-coding_Transcript|ATG4D_uc010dxj.3_Missense_Mutation_p.R126W	NM_032885	NP_116274	Q86TL0	ATG4D_HUMAN	Homo sapiens ATG4 autophagy related 4 homolog D (S. cerevisiae) (ATG4D), mRNA.	459					autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			TCGCACAGGGCGGCTCCTCAG	0.567000												
CUL1	8454	broad.mit.edu	37	7	148456729	148456729	+	Splice_Site	SNP	C	C	T	rs144866150	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:148456729C>T	uc010lpg.3	+	6	1151	c.625_splice	c.e6+1	p.V209_splice	CUL1_uc003wey.3_Splice_Site_p.V209_splice|CUL1_uc003wez.3_Splice_Site_p.V99_splice	NM_003592	NP_003583	Q13616	CUL1_HUMAN	Homo sapiens cullin 1 (CUL1), mRNA.	209					G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination	SCF ubiquitin ligase complex|cytosol|nucleoplasm	ubiquitin protein ligase binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TACAGTCTTACGGTAAATAAT	0.289000												
UBE2D3	7323	broad.mit.edu	37	4	103789880	103789880	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:103789880G>T	uc003hwq.3	-	0	153	c.22C>A	c.(22-24)Ctt>Att	p.L8I	CISD2_uc003hwt.4_5'Flank|UBE2D3_uc003hwr.3_5'UTR	NM_181893	NP_871622	P61077	UB2D3_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2D 3 (UBE2D3), transcript variant 9, mRNA.	6					BMP signaling pathway|DNA repair|apoptosis|negative regulation of type I interferon production|proteasomal ubiquitin-dependent protein catabolic process|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein monoubiquitination|transforming growth factor beta receptor signaling pathway	endosome membrane|plasma membrane	ATP binding|protein binding|ubiquitin-protein ligase activity			kidney(1)|lung(3)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.13e-08)		acttttgaaaggcactttcgg	0.522000												
MYO1F	4542	broad.mit.edu	37	19	8618252	8618252	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:8618252G>A	uc002mkg.3	-	4	534	c.396C>T	c.(394-396)ggC>ggT	p.G132G	MYO1F_uc010xkf.2_Silent_p.G132G	NM_012335	NP_036467	O00160	MYO1F_HUMAN	Homo sapiens myosin IF (MYO1F), mRNA.	132	Myosin head-like.					unconventional myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						TCTCGCCTCCGCCAGACACCT	0.547000												
C12orf63	374467	broad.mit.edu	37	12	97051724	97051724	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:97051724G>A	uc021rcc.1	+	3	518	c.440G>A	c.(439-441)gGt>gAt	p.G147D				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	147										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						AATGACAACGGTGGTTCTAGT	0.343000												
PPP1R10	5514	broad.mit.edu	37	6	30571953	30571953	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:30571953G>A	uc003nqn.1	-	13	1892	c.1340C>T	c.(1339-1341)gCg>gTg	p.A447V	PPP1R10_uc010jsc.1_Missense_Mutation_p.A101V	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 10 (PPP1R10), mRNA.	447	Essential for PPP1CA inhibition (By similarity).|Interaction with WDR82 (By similarity).				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|RNA binding|protein phosphatase inhibitor activity|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						CAGACGCCGCGCTGTCTCAAA	0.552000												
SHANK2	22941	broad.mit.edu	37	11	70332069	70332069	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:70332069G>A	uc001oqc.3	-	20	4243	c.4131C>T	c.(4129-4131)agC>agT	p.S1377S	SHANK2_uc010rqn.2_Silent_p.S853S|SHANK2_uc001opz.3_Silent_p.S848S|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	1064					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GAGGGGTGTCGCTTTTCTTCT	0.527000												
FCGR3A	2214	broad.mit.edu	37	1	161514508	161514508	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:161514508T>C	uc001gar.3	-	3	852	c.668A>G	c.(667-669)aAc>aGc	p.N223S	FCGR3A_uc001gas.3_Missense_Mutation_p.N222S|FCGR3A_uc001gat.4_Missense_Mutation_p.N187S|FCGR3A_uc009wuh.3_Missense_Mutation_p.N186S|FCGR3A_uc009wui.3_Missense_Mutation_p.N187S	NM_000569	NP_001121067	P08637	FCG3A_HUMAN	Homo sapiens Fc fragment of IgG, low affinity IIIa, receptor (CD16a) (FCGR3A), transcript variant 1, mRNA.	187					immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GATGGTGATGTTCACAGTCTC	0.502000												
OVGP1	5016	broad.mit.edu	37	1	111969183	111969183	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:111969183G>A	uc001eba.3	-	2	192	c.136C>T	c.(136-138)Ctg>Ttg	p.L46L	OVGP1_uc001eaz.3_5'UTR|OVGP1_uc010owb.2_5'UTR|OVGP1_uc010owc.1_Silent_p.L36L	NM_002557	NP_002548	Q12889	OVGP1_HUMAN	Homo sapiens oviductal glycoprotein 1, 120kDa (OVGP1), mRNA.	46					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		AAGGGGTCCAGGTCATGGGGC	0.512000												
ACMSD	130013	broad.mit.edu	37	2	135630090	135630090	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:135630090G>A	uc002ttz.3	+	7	795	c.728G>A	c.(727-729)cGc>cAc	p.R243H	ACMSD_uc002tua.3_Missense_Mutation_p.R185H|LOC100129961_uc010zbe.2_Intron	NM_138326	NP_612199	Q8TDX5	ACMSD_HUMAN	Homo sapiens aminocarboxymuconate semialdehyde decarboxylase (ACMSD), mRNA.	243					quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding			endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14				BRCA - Breast invasive adenocarcinoma(221;0.115)		TTCAGCATGCGCCCAGATCTG	0.493000												
TMPRSS7	344805	broad.mit.edu	37	3	111799801	111799801	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:111799801A>G	uc010hqb.2	+	15	2194	c.2024A>G	c.(2023-2025)gAt>gGt	p.D675G	TMPRSS7_uc011bhr.1_Missense_Mutation_p.D530G	NM_001042575	NP_001036040	Q7RTY8	TMPS7_HUMAN	Homo sapiens transmembrane protease, serine 7 (TMPRSS7), transcript variant 1, mRNA.	801	Peptidase S1.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						AGAAAAAGTGATGGAAAATGG	0.413000												
ATRN	8455	broad.mit.edu	37	20	3528132	3528132	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:3528132G>A	uc002wim.2	+	4	1029	c.939G>A	c.(937-939)tgG>tgA	p.W313*	ATRN_uc002wil.2_Nonsense_Mutation_p.W313*|ATRN_uc021vzz.1_Nonsense_Mutation_p.W197*	NM_139321	NP_647537	O75882	ATRN_HUMAN	Homo sapiens attractin (ATRN), transcript variant 1, mRNA.	313					inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						TCTCAGACTGGCAGGGTAGGA	0.373000												
PCNT	5116	broad.mit.edu	37	21	47832880	47832880	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr21:47832880C>T	uc002zji.4	+	28	6231	c.6124C>T	c.(6124-6126)Cgc>Tgc	p.R2042C	PCNT_uc002zjj.3_Missense_Mutation_p.R1924C	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	2042					G2/M transition of mitotic cell cycle|cilium assembly	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AAATGAAATGCGCCTGAGTCT	0.642000												
CCDC108	255101	broad.mit.edu	37	2	219892449	219892449	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:219892449C>T	uc002vjl.1	-	12	2218	c.2134G>A	c.(2134-2136)Gcc>Acc	p.A712T	CCDC108_uc010fwa.1_Missense_Mutation_p.A155T|CCDC108_uc010zkp.1_Missense_Mutation_p.A701T|CCDC108_uc010zkq.1_Missense_Mutation_p.A647T	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	712						integral to membrane	structural molecule activity	p.M711I(1)		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)		AGGCGCATGGCCATGGACTTG	0.602000												
NFATC1	4772	broad.mit.edu	37	18	77246433	77246433	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:77246433G>A	uc010xfg.2	+	8	2731	c.2278G>A	c.(2278-2280)Gcg>Acg	p.A760T	NFATC1_uc002lnd.3_Missense_Mutation_p.A760T|NFATC1_uc002lne.3_Missense_Mutation_p.A288T|NFATC1_uc010xfh.2_Intron|NFATC1_uc010xfj.2_Missense_Mutation_p.A288T|NFATC1_uc002lnf.3_Missense_Mutation_p.A747T|NFATC1_uc002lng.3_Missense_Mutation_p.A747T|NFATC1_uc010xfk.2_Intron	NM_006162	NP_006153	O95644	NFAC1_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 (NFATC1), transcript variant 2, mRNA.	760	Trans-activation domain B (TAD-B).				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		CCTGATGCCAGCGGCCCCTGG	0.687000												
PHLDB1	23187	broad.mit.edu	37	11	118512986	118512986	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:118512986G>A	uc001ptr.2	+	13	3104	c.2751G>A	c.(2749-2751)ctG>ctA	p.L917L	PHLDB1_uc001pts.3_Silent_p.L917L|PHLDB1_uc001ptt.3_Intron|PHLDB1_uc001ptu.2_Non-coding_Transcript|PHLDB1_uc001ptv.2_Silent_p.L717L|PHLDB1_uc001ptw.2_Intron|PHLDB1_uc009zai.2_Intron|PHLDB1_uc001ptx.2_Intron|PHLDB1_uc010ryi.1_Silent_p.L60L|PHLDB1_uc010ryj.1_Silent_p.L55L	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 1 (PHLDB1), transcript variant 1, mRNA.	917										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		AGAAGCTGCTGCTCCCTGCTG	0.612000												
GGH	8836	broad.mit.edu	37	8	63948266	63948266	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:63948266G>A	uc003xuw.3	-	1	456	c.173C>T	c.(172-174)gCg>gTg	p.A58V		NM_003878	NP_003869	Q92820	GGH_HUMAN	Homo sapiens gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase) (GGH), mRNA.	58	Gamma-glutamyl hydrolase.				glutamine metabolic process	extracellular space|lysosome|melanosome	gamma-glutamyl-peptidase activity			breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1)	11	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)			Folic Acid(DB00158)|L-Glutamic Acid(DB00142)	TACATAGGACGCAGCAATATA	0.308000												
HIST1H1T	3010	broad.mit.edu	37	6	26107824	26107824	+	Silent	SNP	G	G	A	rs143215132	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:26107824G>A	uc003ngj.3	-	0	541	c.498C>T	c.(496-498)agC>agT	p.S166S		NM_005323	NP_005314	P22492	H1T_HUMAN	Homo sapiens histone cluster 1, H1t (HIST1H1T), mRNA.	166					cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis	nucleosome	DNA binding			breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1)	9						CCTTTCTCCCGCTCCTAACAG	0.473000												
PAQR3	152559	broad.mit.edu	37	4	79841732	79841732	+	Silent	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:79841732T>C	uc003hlp.1	-	5	1101	c.897A>G	c.(895-897)agA>agG	p.R299R	PAQR3_uc003hlm.3_Non-coding_Transcript|PAQR3_uc003hln.3_Non-coding_Transcript|PAQR3_uc003hlq.1_Silent_p.R181R	NM_001040202	NP_001035292	Q6TCH7	PAQR3_HUMAN	Homo sapiens progestin and adipoQ receptor family member III (PAQR3), mRNA.	299	Golgi targeting.					Golgi membrane|integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	8						GCTTGCTATGTCTGTACTGCA	0.398000												
CAPZA1	829	broad.mit.edu	37	1	113189836	113189836	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:113189836G>A	uc001ecj.1	+	1	436	c.44G>A	c.(43-45)cGc>cAc	p.R15H		NM_006135	NP_006126	P52907	CAZA1_HUMAN	Homo sapiens capping protein (actin filament) muscle Z-line, alpha 1 (CAPZA1), mRNA.	15					actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly	F-actin capping protein complex|WASH complex|cytosol|extracellular region	actin binding			breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	9	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTTTAGGTACGCATAGCTGCT	0.303000												
SP1	6667	broad.mit.edu	37	12	53776267	53776267	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:53776267T>C	uc001scw.3	+	2	633	c.536T>C	c.(535-537)tTc>tCc	p.F179S	SP1_uc021qyf.1_Missense_Mutation_p.F131S|SP1_uc010sog.2_Missense_Mutation_p.F172S	NM_138473	NP_612482	P08047	SP1_HUMAN	Homo sapiens Sp1 transcription factor (SP1), transcript variant 1, mRNA.	179	Transactivation domain A (Gln-rich).				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	HMG box domain binding|double-stranded DNA binding|histone deacetylase binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		ATCCCACAGTTCCAGACCGTT	0.502000												
PAPOLG	64895	broad.mit.edu	37	2	60997606	60997606	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:60997606C>T	uc002sai.3	+	5	701	c.452C>T	c.(451-453)gCc>gTc	p.A151V	PAPOLG_uc002saj.3_5'UTR|PAPOLG_uc002sak.3_5'UTR	NM_022894	NP_075045	Q9BWT3	PAPOG_HUMAN	Homo sapiens poly(A) polymerase gamma (PAPOLG), mRNA.	151					RNA polyadenylation|mRNA processing|transcription, DNA-dependent	nucleus	ATP binding|RNA binding|metal ion binding|polynucleotide adenylyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			GTAGAAGATGCCTTTGTACCT	0.289000												
AVPR1A	552	broad.mit.edu	37	12	63543935	63543935	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:63543935G>A	uc001sro.1	-	0	2656	c.682C>T	c.(682-684)Ccc>Tcc	p.P228S		NM_000706	NP_000697	P37288	V1AR_HUMAN	Homo sapiens arginine vasopressin receptor 1A (AVPR1A), mRNA.	228					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	ATGACCACGGGCGCCACAAAG	0.622000												
MID1IP1	58526	broad.mit.edu	37	X	38664476	38664476	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:38664476C>T	uc022buw.1	+	0	277	c.277C>T	c.(277-279)Ctt>Ttt	p.L93F	MID1IP1_uc004dei.4_Missense_Mutation_p.L93F|MID1IP1_uc010ngz.3_Missense_Mutation_p.L93F|MID1IP1_uc004dej.4_Missense_Mutation_p.L93F	NM_021242	NP_067065	Q9NPA3	M1IP1_HUMAN	Homo sapiens MID1 interacting protein 1 (gastrulation specific G12 homolog (zebrafish)) (MID1IP1), transcript variant 1, mRNA.	93					lipid biosynthetic process|negative regulation of microtubule depolymerization|positive regulation of fatty acid biosynthetic process|positive regulation of ligase activity|protein polymerization	cytosol|microtubule|nucleus				kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7						CCACTACGTGCTTCTCAAGTC	0.657000												
CSRP2BP	57325	broad.mit.edu	37	20	18163860	18163860	+	Silent	SNP	C	C	T	rs149106213		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:18163860C>T	uc021wbb.1	+	7	2339	c.1902C>T	c.(1900-1902)ccC>ccT	p.P634P	CSRP2BP_uc002wqk.3_Silent_p.P506P|CSRP2BP_uc010zru.2_Silent_p.P505P	NM_020536	NP_065397	Q9H8E8	CSR2B_HUMAN	Homo sapiens CSRP2 binding protein (CSRP2BP), transcript variant 1, mRNA.	634					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity	p.P634P(2)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						CGCCGGAGCCCGACGCACCTC	0.547000												
PRDM10	56980	broad.mit.edu	37	11	129817095	129817095	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:129817095C>T	uc001qfm.3	-	4	697	c.465G>A	c.(463-465)acG>acA	p.T155T	PRDM10_uc001qfj.3_Silent_p.T69T|PRDM10_uc001qfk.3_Silent_p.T69T|PRDM10_uc001qfl.3_Silent_p.T69T|PRDM10_uc010sbx.2_Silent_p.T69T|PRDM10_uc001qfn.3_Silent_p.T155T|PRDM10_uc009zct.1_Silent_p.T187T	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN	Homo sapiens PR domain containing 10 (PRDM10), transcript variant 1, mRNA.	155					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T155T(2)|p.T155M(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		CATCCAGATCCGTGTCCTCAC	0.597000												
MECR	51102	broad.mit.edu	37	1	29533360	29533360	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:29533360T>C	uc001brq.1	-	3	500	c.464A>G	c.(463-465)gAc>gGc	p.D155G	MECR_uc001brp.1_Missense_Mutation_p.D79G|MECR_uc001brt.1_Missense_Mutation_p.D79G|MECR_uc010ofz.1_Missense_Mutation_p.D155G	NM_016011	NP_001019903	Q9BV79	MECR_HUMAN	Homo sapiens mitochondrial trans-2-enoyl-CoA reductase (MECR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	155					fatty acid biosynthetic process	mitochondrion	trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)		AAGAGGGATGTCACTCGGAAC	0.567000												
SRPK2	6733	broad.mit.edu	37	7	104807824	104807824	+	Splice_Site	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:104807824G>A	uc003vct.3	-	5	668	c.481_splice	c.e5+1	p.H161_splice	SRPK2_uc003vcu.3_Splice_Site_p.H161_splice|SRPK2_uc003vcv.3_Splice_Site_p.H172_splice|SRPK2_uc003vcw.1_Splice_Site_p.H161_splice	NM_182691	NP_872633	P78362	SRPK2_HUMAN	Homo sapiens SRSF protein kinase 2 (SRPK2), transcript variant 2, mRNA.	161	Protein kinase.				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						TAAAGGATACGTATCCCATTC	0.368000												
SYNE2	23224	broad.mit.edu	37	14	64542723	64542723	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:64542723C>T	uc001xgl.3	+	53	11157	c.10927C>T	c.(10927-10929)Cga>Tga	p.R3643*	SYNE2_uc001xgm.3_Nonsense_Mutation_p.R3643*|SYNE2_uc021ruh.1_Nonsense_Mutation_p.R3676*|SYNE2_uc010apy.3_Nonsense_Mutation_p.R5*|SYNE2_uc010apw.1_Nonsense_Mutation_p.R349*|SYNE2_uc010apx.1_Nonsense_Mutation_p.R35*	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	3643					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GGAAAAACTGCGAATCAAGTA	0.388000												
IDH3G	3421	broad.mit.edu	37	X	153053556	153053556	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:153053556C>T	uc004fip.3	-	5	567	c.381G>A	c.(379-381)tcG>tcA	p.S127S	IDH3G_uc004fiq.3_Silent_p.S127S|IDH3G_uc004fit.1_Silent_p.S127S|IDH3G_uc004fiu.3_5'Flank	NM_004135	NP_004126	P51553	IDH3G_HUMAN	Homo sapiens isocitrate dehydrogenase 3 (NAD+) gamma (IDH3G), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	127					carbohydrate metabolic process|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleolus	ATP binding|NAD binding|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)	17	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	GAGATTTGTGCGACGGTGGCA	0.592000												
SLC12A9	56996	broad.mit.edu	37	7	100460410	100460410	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:100460410C>T	uc003uwp.3	+	12	1961	c.1819C>T	c.(1819-1821)Cgc>Tgc	p.R607C	SLC12A9_uc003uwq.3_Missense_Mutation_p.R518C|SLC12A9_uc011kki.2_Missense_Mutation_p.R138C|SLC12A9_uc003uwr.3_Missense_Mutation_p.R343C|SLC12A9_uc003uws.3_Missense_Mutation_p.R138C|SLC12A9_uc003uwt.3_Missense_Mutation_p.R343C|SLC12A9_uc003uwv.3_Missense_Mutation_p.R138C	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 9 (SLC12A9), mRNA.	607						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					ACCCTCCGTGCGCCAGGGGGC	0.637000												
EIF4EBP1	1978	broad.mit.edu	37	8	37914773	37914773	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:37914773C>T	uc003xks.3	+	1	392	c.320C>T	c.(319-321)gCg>gTg	p.A107V		NM_004095	NP_004086	Q13541	4EBP1_HUMAN	Homo sapiens eukaryotic translation initiation factor 4E binding protein 1 (EIF4EBP1), mRNA.	107					G1/S transition of mitotic cell cycle|TOR signaling cascade|insulin receptor signaling pathway|positive regulation of mitotic cell cycle|translation	cytosol				endometrium(1)|lung(1)|ovary(1)|urinary_tract(1)	4	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)				GATAAGCGGGCGGGCGGTGAG	0.622000												
LRRC4C	57689	broad.mit.edu	37	11	40136706	40136706	+	Silent	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:40136706T>C	uc021qgf.1	-	0	1137	c.1137A>G	c.(1135-1137)acA>acG	p.T379T	LRRC4C_uc001mxc.1_Silent_p.T375T|LRRC4C_uc001mxd.1_Silent_p.T375T|LRRC4C_uc001mxa.1_Silent_p.T379T|LRRC4C_uc001mxb.1_Silent_p.T375T	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	379	Ig-like C2-type.				regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				ATGTCAGGGATGTGGAGGCCC	0.493000												
CCDC62	84660	broad.mit.edu	37	12	123273396	123273396	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:123273396C>T	uc001udc.3	+	4	752	c.590C>T	c.(589-591)gCg>gTg	p.A197V	CCDC62_uc010tah.2_Non-coding_Transcript|CCDC62_uc001ude.3_Intron|CCDC62_uc021rfn.1_Missense_Mutation_p.A12V	NM_201435	NP_958843	Q6P9F0	CCD62_HUMAN	Homo sapiens coiled-coil domain containing 62 (CCDC62), transcript variant 2, mRNA.	197						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)		GCCAAGATGGCGGAGACTTGT	0.368000												
IGF2R	3482	broad.mit.edu	37	6	160497000	160497000	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:160497000C>T	uc003qta.3	+	35	5436	c.5288C>T	c.(5287-5289)gCg>gTg	p.A1763V		NM_000876	NP_000867	P11717	MPRI_HUMAN	Homo sapiens insulin-like growth factor 2 receptor (IGF2R), mRNA.	1763					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	p.A1763V(2)|p.A1763T(1)		breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		TCGCTCATCGCGTTTCACTGT	0.458000												
DGKE	8526	broad.mit.edu	37	17	54925404	54925404	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:54925404C>T	uc002iur.3	+	4	1046	c.866C>T	c.(865-867)gCa>gTa	p.A289V	DGKE_uc002ius.1_Missense_Mutation_p.A289V	NM_003647	NP_003638	P52429	DGKE_HUMAN	Homo sapiens diacylglycerol kinase, epsilon 64kDa (DGKE), mRNA.	289	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					GTCCTGGATGCAGTTGATGAC	0.383000												
PKP1	5317	broad.mit.edu	37	1	201252935	201252935	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:201252935G>A	uc001gwd.3	+	0	356	c.105G>A	c.(103-105)acG>acA	p.T35T	PKP1_uc001gwe.3_Silent_p.T35T|PKP1_uc009wzm.3_5'UTR	NM_000299	NP_000290	Q13835	PKP1_HUMAN	Homo sapiens plakophilin 1 (ectodermal dysplasia/skin fragility syndrome) (PKP1), transcript variant 1b, mRNA.	35					cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						AAACAGGCACGTCTGGCAGGC	0.587000												
PTPN2	5771	broad.mit.edu	37	18	12817195	12817195	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:12817195C>T	uc002krp.3	-	5	859	c.665G>A	c.(664-666)cGc>cAc	p.R222H	PTPN2_uc002krn.3_Missense_Mutation_p.R245H|PTPN2_uc002krl.3_Missense_Mutation_p.R222H|PTPN2_uc002krm.3_Missense_Mutation_p.R222H	NM_002828	NP_002819	P17706	PTN2_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 2 (PTPN2), transcript variant 1, mRNA.	222	Substrate binding (By similarity).|Tyrosine-protein phosphatase.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway	endoplasmic reticulum|nucleoplasm	protein binding	p.G221G(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)|skin(3)	13		Lung NSC(161;8.94e-06)				GGTGCCAGAGCGCCCAATGCC	0.428000												
PSG7	5676	broad.mit.edu	37	19	43439709	43439709	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:43439709G>A	uc002ovl.4	-	1	379	c.277C>T	c.(277-279)Cct>Tct	p.P93S	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_Intron	NM_002783	NP_002774	Q13046	PSG7_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA.	93	Ig-like V-type.				female pregnancy	extracellular region							Prostate(69;0.00682)				CTGTATGCAGGCCCATATTTA	0.408000												
ZNF639	51193	broad.mit.edu	37	3	179051265	179051265	+	Silent	SNP	G	G	A	rs17852358		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:179051265G>A	uc003fjr.1	+	6	958	c.513G>A	c.(511-513)ccG>ccA	p.P171P	ZNF639_uc003fjq.1_Silent_p.P171P	NM_016331	NP_057415	Q9UID6	ZN639_HUMAN	Homo sapiens zinc finger protein 639 (ZNF639), mRNA.	171					initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent	nucleus	protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.P171L(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1)	16	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			ATGAAGAACCGCCAGCTAAAC	0.418000												
C15orf44	81556	broad.mit.edu	37	15	65892135	65892135	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:65892135T>C	uc010uix.2	-	3	959	c.571A>G	c.(571-573)Atg>Gtg	p.M191V	C15orf44_uc002apd.3_Missense_Mutation_p.M155V|C15orf44_uc010uja.2_Missense_Mutation_p.M138V|C15orf44_uc010ujb.2_Missense_Mutation_p.M98V|C15orf44_uc002ape.4_Missense_Mutation_p.M155V|C15orf44_uc010uiy.2_Missense_Mutation_p.M76V|C15orf44_uc010uiz.2_Missense_Mutation_p.M119V|C15orf44_uc010ujc.2_Missense_Mutation_p.M187V			Q96SY0	CO044_HUMAN	Homo sapiens chromosome 15 open reading frame 44 (C15orf44), transcript variant 3, non-coding RNA.	155	VWFA.									breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2)	12						GCCATGCACATGATATATAAC	0.383000												
DNAH8	1769	broad.mit.edu	37	6	38781840	38781840	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:38781840C>T	uc021yzh.1	+	24	3377	c.3268C>T	c.(3268-3270)Cga>Tga	p.R1090*	DNAH8_uc003ooe.2_Nonsense_Mutation_p.R873*	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.									p.E1089Q(1)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CCTTTATGGGCGAAAGCAGTC	0.308000												
SOX5	6660	broad.mit.edu	37	12	23689453	23689453	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:23689453C>T	uc001rfw.3	-	13	2024	c.1922G>A	c.(1921-1923)cGc>cAc	p.R641H	SOX5_uc001rfx.3_Missense_Mutation_p.R628H|SOX5_uc001rfy.3_Missense_Mutation_p.R520H|SOX5_uc001rfv.3_Missense_Mutation_p.R255H|SOX5_uc010siv.2_Missense_Mutation_p.R628H|SOX5_uc010siw.1_Non-coding_Transcript	NM_006940	NP_694534	P35711	SOX5_HUMAN	Homo sapiens SRY (sex determining region Y)-box 5 (SOX5), transcript variant 1, mRNA.	641					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						TTCACCAATGCGCAGCTTTTT	0.517000												
ANO8	57719	broad.mit.edu	37	19	17444229	17444229	+	Splice_Site	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:17444229G>A	uc002ngf.2	-	3	509	c.350_splice	c.e3+1	p.S117_splice	ANO8_uc010eap.2_Splice_Site|GTPBP3_uc010xpo.2_5'Flank	NM_020959	NP_066010	Q9HCE9	ANO8_HUMAN	Homo sapiens anoctamin 8 (ANO8), mRNA.	117						chloride channel complex	chloride channel activity			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						CAGGGGACTCGCCTCTCATAC	0.642000												
FRMPD4	9758	broad.mit.edu	37	X	12712493	12712493	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:12712493T>C	uc004cuz.2	+	8	1359	c.853T>C	c.(853-855)Ttc>Ctc	p.F285L	FRMPD4_uc011mij.2_Missense_Mutation_p.F277L	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.	285	FERM.				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						GAGATGTCTTTTCCGAATTAG	0.438000												
PRAMEF12	390999	broad.mit.edu	37	1	12836065	12836065	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:12836065G>A	uc001aui.3	+	1	694	c.667G>A	c.(667-669)Gcc>Acc	p.A223T		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	Homo sapiens PRAME family member 12 (PRAMEF12), mRNA.	223										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)		TATAAGGTTCGCCCCTTACCT	0.522000												
SLCO3A1	28232	broad.mit.edu	37	15	92669301	92669301	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:92669301G>A	uc002bqx.2	+	5	1386	c.1185G>A	c.(1183-1185)gcG>gcA	p.A395A	SLCO3A1_uc002bqy.2_Silent_p.A395A|SLCO3A1_uc010boc.1_Non-coding_Transcript|SLCO3A1_uc002bqz.1_Silent_p.A337A	NM_013272	NP_037404	Q9UIG8	SO3A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 3A1 (SLCO3A1), transcript variant 1, mRNA.	395					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			GGATGACTGCGATCCCGTGTG	0.607000												
GNAT1	2779	broad.mit.edu	37	3	50231062	50231062	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:50231062G>A	uc003cym.2	+	3	531	c.415G>A	c.(415-417)Gcc>Acc	p.A139T	GNAT1_uc003cyl.2_Missense_Mutation_p.A139T	NM_144499	NP_653082	P11488	GNAT1_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1 (GNAT1), transcript variant 1, mRNA.	139					G-protein signaling, coupled to cAMP nucleotide second messenger|detection of chemical stimulus involved in sensory perception of bitter taste|negative regulation of cyclic-nucleotide phosphodiesterase activity|rhodopsin mediated phototransduction|sensory perception of umami taste	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GDP binding|GTP binding|GTPase activity|acyl binding|protein kinase binding|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		TTTTGAGCGCGCCTCGGAGTA	0.697000												
ITSN2	50618	broad.mit.edu	37	2	24484596	24484596	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:24484596C>T	uc002rfe.2	-	20	2629	c.2371G>A	c.(2371-2373)Gta>Ata	p.V791I	ITSN2_uc002rff.2_Missense_Mutation_p.V764I|ITSN2_uc002rfg.3_Missense_Mutation_p.V791I	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	Homo sapiens intersectin 2 (ITSN2), transcript variant 1, mRNA.	791	SH3 1.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity|calcium ion binding			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)					GGTTCTCCTACGGTTTTTTCA	0.333000												
TIMELESS	8914	broad.mit.edu	37	12	56811784	56811784	+	Missense_Mutation	SNP	C	C	T	rs150055938	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:56811784C>T	uc001slf.2	-	27	3631	c.3463G>A	c.(3463-3465)Gct>Act	p.A1155T		NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	Homo sapiens timeless homolog (Drosophila) (TIMELESS), mRNA.	1155					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						TTACCAACAGCGTCTTCCTCT	0.502000												
TRIM31	11074	broad.mit.edu	37	6	30080406	30080406	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:30080406G>A	uc003npg.1	-	1	287	c.177C>T	c.(175-177)tcC>tcT	p.S59S	TRIM31_uc003npi.3_Non-coding_Transcript	NM_007028	NP_008959	Q9BZY9	TRI31_HUMAN	Homo sapiens tripartite motif containing 31 (TRIM31), mRNA.	59						mitochondrion	ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						TCTTCCTTACGGAAGTTTTGC	0.473000												
FBXL7	23194	broad.mit.edu	37	5	15936704	15936704	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:15936704G>A	uc003jfn.1	+	3	1366	c.885G>A	c.(883-885)gcG>gcA	p.A295A		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 7 (FBXL7), mRNA.	295					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CCATCGCGGCGCACTGCACGC	0.612000												
GRAP2	9402	broad.mit.edu	37	22	40365422	40365422	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:40365422G>T	uc003ayh.2	+	6	961	c.698G>T	c.(697-699)cGa>cTa	p.R233L	GRAP2_uc011aom.2_Missense_Mutation_p.R207L|GRAP2_uc011aon.2_Missense_Mutation_p.R167L|GRAP2_uc010gya.2_Missense_Mutation_p.R233L|GRAP2_uc011aoo.2_Missense_Mutation_p.R161L|GRAP2_uc011aop.2_Missense_Mutation_p.R193L|GRAP2_uc011aoq.2_Missense_Mutation_p.R120L|GRAP2_uc003ayj.2_Missense_Mutation_p.R233L	NM_004810	NP_004801	O75791	GRAP2_HUMAN	Homo sapiens GRB2-related adaptor protein 2 (GRAP2), mRNA.	233					Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway|cell-cell signaling	cytosol	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						TAGGAACGCCGAGGAGGCAGC	0.572000												
BCMO1	53630	broad.mit.edu	37	16	81279097	81279097	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:81279097C>T	uc002fgn.1	+	1	300	c.82C>T	c.(82-84)Ctg>Ttg	p.L28L	BCMO1_uc002fgm.1_Silent_p.L28L|BCMO1_uc010vnp.1_Missense_Mutation_p.A2V	NM_017429	NP_059125	Q9HAY6	BCDO1_HUMAN	Homo sapiens beta-carotene 15,15'-monooxygenase 1 (BCMO1), mRNA.	28					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity	p.W27*(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						TCCAGCATGGCTGCAGGGAAC	0.512000												
C20orf132	140699	broad.mit.edu	37	20	35788560	35788560	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:35788560C>T	uc010zvu.2	-	6	759	c.668G>A	c.(667-669)cGc>cAc	p.R223H	C20orf132_uc002xgk.3_5'Flank|C20orf132_uc002xgm.2_Missense_Mutation_p.R223H|C20orf132_uc002xgn.2_Missense_Mutation_p.R223H	NM_152503	NP_689716	Q9H579	CT132_HUMAN	Homo sapiens chromosome 20 open reading frame 132 (C20orf132), transcript variant 1, mRNA.	143										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(115;0.00878)				AGAATGCGGGCGTTCCTCTTG	0.542000												
MTNR1B	4544	broad.mit.edu	37	11	92715429	92715429	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:92715429G>A	uc001pdk.1	+	1	1143	c.1040G>A	c.(1039-1041)aGc>aAc	p.S347N		NM_005959	NP_005950	P49286	MTR1B_HUMAN	Homo sapiens melatonin receptor 1B (MTNR1B), mRNA.	347					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	GGGCTGCAGAGCCCAGCTCCA	0.572000												
WDR76	79968	broad.mit.edu	37	15	44120406	44120406	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:44120406T>A	uc001zti.2	+	1	423	c.304T>A	c.(304-306)Tct>Act	p.S102T	WDR76_uc021skg.1_Missense_Mutation_p.S38T	NM_024908	NP_001161413	Q9H967	WDR76_HUMAN	Homo sapiens WD repeat domain 76 (WDR76), transcript variant 1, mRNA.	102										breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)	20		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)		GAAAAACACATCTTCCAAGGC	0.393000												
POP1	10940	broad.mit.edu	37	8	99148735	99148735	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:99148735C>T	uc003yij.4	+	7	1137	c.1037C>T	c.(1036-1038)gCg>gTg	p.A346V	POP1_uc011lgv.2_Missense_Mutation_p.A346V|POP1_uc003yik.3_Missense_Mutation_p.A346V	NM_001145860	NP_055844	Q99575	POP1_HUMAN	Homo sapiens processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) (POP1), transcript variant 1, mRNA.	346					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			ATAAAAGCAGCGTGCCAGTGT	0.353000												
ZNF550	162972	broad.mit.edu	37	19	58059032	58059032	+	Missense_Mutation	SNP	C	C	T	rs78685508	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:58059032C>T	uc002qpe.1	-	1	457	c.457G>A	c.(457-459)Gcc>Acc	p.A153T	ZNF550_uc002qpc.3_Non-coding_Transcript|ZNF550_uc010eue.2_Non-coding_Transcript|ZNF550_uc002qpd.3_Non-coding_Transcript	NM_001039654	NP_001034743	Q7Z398	ZN550_HUMAN	Homo sapiens zinc finger protein 550 (ZNF550), mRNA.	194					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	7		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGAATCAAGGCGTCTTTCCCT	0.488000												
SCNN1G	6340	broad.mit.edu	37	16	23197805	23197805	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:23197805C>T	uc002dlm.1	+	1	352	c.213C>T	c.(211-213)tgC>tgT	p.C71C		NM_001039	NP_001030	P51170	SCNNG_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, gamma (SCNN1G), mRNA.	71					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	WW domain binding|ligand-gated sodium channel activity			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	TCTGGCAGTGCGCCCTCCTCG	0.597000												
ME3	10873	broad.mit.edu	37	11	86267716	86267716	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:86267716G>A	uc001pbz.3	-	2	600	c.346C>T	c.(346-348)Cgg>Tgg	p.R116W	ME3_uc001pca.3_Missense_Mutation_p.R116W|ME3_uc009yvk.3_Missense_Mutation_p.R116W|ME3_uc010rtr.1_Non-coding_Transcript	NM_001014811	NP_001155058	Q16798	MAON_HUMAN	Homo sapiens malic enzyme 3, NADP(+)-dependent, mitochondrial (ME3), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	116					aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	NAD binding|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)			NADH(DB00157)	TTCTCGTTCCGGTCTTGGAGT	0.532000												
KLHL14	57565	broad.mit.edu	37	18	30321990	30321990	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:30321990G>A	uc002kxm.1	-	2	1358	c.970C>T	c.(970-972)Ctg>Ttg	p.L324L		NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	Homo sapiens kelch-like 14 (Drosophila) (KLHL14), mRNA.	324						cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						ACCAATAACAGCATTTTCTTG	0.428000												
PPFIA1	8500	broad.mit.edu	37	11	70118424	70118424	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:70118424G>A	uc001opo.3	+	1	361	c.146G>A	c.(145-147)cGc>cAc	p.R49H	PPFIA1_uc001opn.2_Missense_Mutation_p.R49H|PPFIA1_uc001opp.3_Non-coding_Transcript	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 (PPFIA1), transcript variant 2, mRNA.	49					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			GAAAGGGACCGCCTTCTTGAT	0.517000												
IPO4	79711	broad.mit.edu	37	14	24654160	24654160	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:24654160C>T	uc001wmv.1	-	14	2456	c.1435G>A	c.(1435-1437)Gag>Aag	p.E479K	IPO4_uc001wmt.1_5'Flank|IPO4_uc001wmu.2_Missense_Mutation_p.E141K|IPO4_uc001wmw.1_Non-coding_Transcript|IPO4_uc010tnz.1_Non-coding_Transcript|IPO4_uc001wmx.1_Missense_Mutation_p.E343K|IPO4_uc001wmy.1_Missense_Mutation_p.E343K|IPO4_uc001wmz.2_Missense_Mutation_p.E479K	NM_024658	NP_078934	Q8TEX9	IPO4_HUMAN	Homo sapiens importin 4 (IPO4), mRNA.	479					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		TCCATAAGCTCCGGAAGGTAG	0.627000												
PI4K2B	55300	broad.mit.edu	37	4	25270822	25270822	+	Silent	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:25270822T>C	uc003grk.2	+	8	1402	c.1269T>C	c.(1267-1269)ggT>ggC	p.G423G	PI4K2B_uc011bxs.2_Silent_p.G327G	NM_018323	NP_060793	Q8TCG2	P4K2B_HUMAN	Homo sapiens phosphatidylinositol 4-kinase type 2 beta (PI4K2B), mRNA.	423	PI3K/PI4K.					cytoplasm|membrane	1-phosphatidylinositol 4-kinase activity|ATP binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3)	15		Breast(46;0.173)				TGATGAGGGGTCAGGTAAGTT	0.333000												
DAB2	1601	broad.mit.edu	37	5	39388941	39388941	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:39388941G>A	uc003jlx.3	-	7	1115	c.584C>T	c.(583-585)gCc>gTc	p.A195V	DAB2_uc003jlw.3_Missense_Mutation_p.A195V	NM_001343	NP_001334	P98082	DAB2_HUMAN	Homo sapiens disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila) (DAB2), transcript variant 1, mRNA.	195	PID.				cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			AATCATTAGGGCCTCACTCCC	0.348000												
COL27A1	85301	broad.mit.edu	37	9	116930298	116930298	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:116930298C>T	uc011lxl.2	+	2	463	c.463C>T	c.(463-465)Cgc>Tgc	p.R155C	COL27A1_uc004bii.3_Non-coding_Transcript|COL27A1_uc010mvd.2_Missense_Mutation_p.R5C	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.	155	Laminin G-like.|TSP N-terminal.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GCACGACGGGCGCTGGCACCA	0.697000												
EPHA10	284656	broad.mit.edu	37	1	38227345	38227345	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:38227345G>A	uc009vvi.3	-	2	668	c.582C>T	c.(580-582)gaC>gaT	p.D194D	EPHA10_uc001cbw.4_Silent_p.D194D	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.	194						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				ATGCGCCCACGTCCTGAAAGG	0.677000												
DSG2	1829	broad.mit.edu	37	18	29125953	29125953	+	Silent	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:29125953T>C	uc002kwu.4	+	14	2792	c.2604T>C	c.(2602-2604)caT>caC	p.H868H	LOC100652770_uc002kwv.4_Intron	NM_001943	NP_001934	Q14126	DSG2_HUMAN	Homo sapiens desmoglein 2 (DSG2), mRNA.	868					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			CAGCTTCACATTCACTCTGTG	0.403000												
BTRC	8945	broad.mit.edu	37	10	103294488	103294488	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:103294488C>T	uc001kta.3	+	9	1281	c.1168C>T	c.(1168-1170)Cgt>Tgt	p.R390C	BTRC_uc001ktb.3_Missense_Mutation_p.R354C|BTRC_uc001ktc.3_Missense_Mutation_p.R364C	NM_033637	NP_378663	Q9Y297	FBW1A_HUMAN	Homo sapiens beta-transducin repeat containing (BTRC), transcript variant 1, mRNA.	390					Wnt receptor signaling pathway|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction	SCF ubiquitin ligase complex|cytosol|nucleus				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		TCTGCACTTGCGTTTCAATAA	0.458000												
C3orf32	51066	broad.mit.edu	37	3	8667298	8667298	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:8667298C>T	uc011atg.2	-	9	843	c.803G>A	c.(802-804)cGg>cAg	p.R268Q	C3orf32_uc003bqz.3_Missense_Mutation_p.R246Q|C3orf32_uc003bqt.3_Missense_Mutation_p.R195Q|C3orf32_uc003bqu.3_Missense_Mutation_p.R246Q|C3orf32_uc003bqv.3_Missense_Mutation_p.R195Q|C3orf32_uc003bqx.3_Non-coding_Transcript|C3orf32_uc003bqy.3_Missense_Mutation_p.R246Q	NM_015931	NP_057015	Q9Y2M2	CC032_HUMAN	Homo sapiens chromosome 3 open reading frame 32 (C3orf32), mRNA.	246										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	14						GCAGTTGAGCCGGTGCTCAGA	0.498000												
TOP2A	7153	broad.mit.edu	37	17	38557134	38557134	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:38557134G>A	uc002huq.3	-	20	2791	c.2632C>T	c.(2632-2634)Cgt>Tgt	p.R878C	RARA_uc021txb.1_Intron	NM_001067	NP_001058	P11388	TOP2A_HUMAN	Homo sapiens topoisomerase (DNA) II alpha 170kDa (TOP2A), mRNA.	878					DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|apoptotic chromosome condensation|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	DNA topoisomerase complex (ATP-hydrolyzing)|cytoplasm|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|chromatin binding|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	TCCATCAAACGCCTGATGTTA	0.408000												
ELK3	2004	broad.mit.edu	37	12	96640801	96640801	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:96640801G>A	uc001teo.1	+	2	570	c.291G>A	c.(289-291)gcG>gcA	p.A97A		NM_005230	NP_005221	P41970	ELK3_HUMAN	Homo sapiens ELK3, ETS-domain protein (SRF accessory protein 2) (ELK3), mRNA.	97					negative regulation of transcription, DNA-dependent|signal transduction	mitochondrion	protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20	all_cancers(2;0.00173)					ATCCTCACGCGGTGGAGATCA	0.562000												
R3HDM1	23518	broad.mit.edu	37	2	136473231	136473231	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:136473231C>T	uc002tuo.3	+	22	3113	c.2743C>T	c.(2743-2745)Ccc>Tcc	p.P915S	R3HDM1_uc010fni.3_Missense_Mutation_p.P914S|R3HDM1_uc002tup.3_Missense_Mutation_p.P860S|R3HDM1_uc010zbh.2_Missense_Mutation_p.P663S	NM_015361	NP_056176	Q15032	R3HD1_HUMAN	Homo sapiens R3H domain containing 1 (R3HDM1), mRNA.	915							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		TTCCATCATGCCCCAATTTTC	0.488000												
SLMAP	7871	broad.mit.edu	37	3	57898261	57898261	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:57898261A>G	uc003dje.1	+	17	2007	c.1802A>G	c.(1801-1803)gAc>gGc	p.D601G	SLMAP_uc003djd.1_Missense_Mutation_p.D584G|SLMAP_uc003djf.1_Missense_Mutation_p.D563G|SLMAP_uc003djg.1_Missense_Mutation_p.D195G|SLMAP_uc011bez.1_Missense_Mutation_p.D69G|SLMAP_uc011bfa.1_Missense_Mutation_p.D135G|SLMAP_uc003djh.3_Missense_Mutation_p.D94G|SLMAP_uc003dji.1_Missense_Mutation_p.D135G|SLMAP_uc011bfb.1_Missense_Mutation_p.D135G|SLMAP_uc011bfc.1_Missense_Mutation_p.D94G	NM_007159	NP_009090	Q14BN4	SLMAP_HUMAN	Homo sapiens sarcolemma associated protein (SLMAP), mRNA.	601					muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		CGGGACACTGACATTGCTTCT	0.453000												
EXTL1	2134	broad.mit.edu	37	1	26349584	26349584	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:26349584G>A	uc001blf.3	+	0	1314	c.447G>A	c.(445-447)atG>atA	p.M149I		NM_004455	NP_004446	Q92935	EXTL1_HUMAN	Homo sapiens exostoses (multiple)-like 1 (EXTL1), mRNA.	149					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		GCAGCTCAATGCCTCTGCAAT	0.632000												
CLK1	1195	broad.mit.edu	37	2	201721521	201721521	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:201721521C>T	uc002uwe.2	-	8	1122	c.941G>A	c.(940-942)cGc>cAc	p.R314H	CLK1_uc010zhi.1_Missense_Mutation_p.R356H|CLK1_uc002uwf.2_Missense_Mutation_p.R88H|CLK1_uc002uwg.2_Missense_Mutation_p.R163H	NM_004071	NP_004062	P49759	CLK1_HUMAN	Homo sapiens CDC-like kinase 1 (CLK1), transcript variant 1, mRNA.	314	Protein kinase.				cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	p.E313K(1)		NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						TATTAAGGTGCGTTCATCACG	0.323000												
SYT2	127833	broad.mit.edu	37	1	202573729	202573729	+	Missense_Mutation	SNP	C	C	T	rs147177966		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:202573729C>T	uc001gye.3	-	2	392	c.199G>A	c.(199-201)Gcc>Acc	p.A67T	SYT2_uc010pqb.2_Missense_Mutation_p.A67T|SYT2_uc009xaf.3_Intron	NM_001136504	NP_796376	Q8N9I0	SYT2_HUMAN	Homo sapiens synaptotagmin II (SYT2), transcript variant 2, mRNA.	67					neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	ACAGCAATGGCGATCAGTGCC	0.552000												
MYT1	4661	broad.mit.edu	37	20	62839458	62839458	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:62839458G>A	uc002yii.3	+	6	1273	c.909G>A	c.(907-909)gaG>gaA	p.E303E	MYT1_uc002yih.3_Intron|MYT1_uc002yij.3_5'UTR	NM_004535	NP_004526	Q01538	MYT1_HUMAN	Homo sapiens myelin transcription factor 1 (MYT1), mRNA.	303	Glu-rich.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E302E(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					aggaagaggaggaggaggagg	0.577000												
C9orf96	169436	broad.mit.edu	37	9	136256456	136256456	+	Splice_Site	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:136256456G>T	uc004cdk.3	+	7	529	c.468_splice	c.e7-1	p.R156_splice	C9orf96_uc004cdl.3_Intron	NM_153710	NP_714921	Q8NE28	SGK71_HUMAN	Homo sapiens chromosome 9 open reading frame 96 (C9orf96), mRNA.	156	Protein kinase.						ATP binding|protein kinase activity			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CTTGGTTTCAGGAATCTCAAA	0.542000												
LUZP4	51213	broad.mit.edu	37	X	114537928	114537928	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:114537928C>T	uc004eqa.3	+	2	321	c.287C>T	c.(286-288)cCt>cTt	p.P96L	LUZP4_uc004eqb.3_Intron	NM_016383	NP_057467	Q9P127	LUZP4_HUMAN	Homo sapiens leucine zipper protein 4 (LUZP4), mRNA.	96						nucleus		p.P96T(1)		endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						TCCCAAAAACCTTCTGGATTC	0.338000												
CDH26	60437	broad.mit.edu	37	20	58562546	58562546	+	Silent	SNP	C	C	T	rs146755298		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:58562546C>T	uc002ybe.3	+	7	1187	c.876C>T	c.(874-876)ggC>ggT	p.G292G	CDH26_uc002ybf.1_5'Flank|CDH26_uc010zzy.2_Non-coding_Transcript	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	Homo sapiens cadherin 26 (CDH26), transcript variant a, mRNA.	292	Cadherin 3.				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)			CCAGCCAGGGCGTGTTGCGTC	0.433000												
OR2G2	81470	broad.mit.edu	37	1	247752569	247752569	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:247752569C>T	uc010pyy.2	+	0	908	c.908C>T	c.(907-909)gCa>gTa	p.A303V		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 2 (OR2G2), mRNA.	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G302V(1)		endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GTGAAAGGGGCATTAAAGAAA	0.363000												
NUP214	8021	broad.mit.edu	37	9	134004682	134004682	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:134004682G>A	uc004cag.3	+	3	521	c.410G>A	c.(409-411)cGc>cAc	p.R137H	NUP214_uc004cah.3_Missense_Mutation_p.R137H|NUP214_uc004caf.1_Missense_Mutation_p.R137H	NM_005085	NP_005076	P35658	NU214_HUMAN	Homo sapiens nucleoporin 214kDa (NUP214), mRNA.	137					carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		CAGCAAAAACGCCCATTTGCC	0.368000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""							
RYR2	6262	broad.mit.edu	37	1	237753955	237753955	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:237753955G>A	uc001hyl.1	+	30	3943	c.3823G>A	c.(3823-3825)Ggc>Agc	p.G1275S		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	1275	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.G1273R(1)		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)			CAGAATAGACGGCACCATAGA	0.423000												
ASPHD2	57168	broad.mit.edu	37	22	26839084	26839084	+	Missense_Mutation	SNP	G	G	A	rs138986249		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:26839084G>A	uc003acg.2	+	3	1419	c.1022G>A	c.(1021-1023)cGg>cAg	p.R341Q		NM_020437	NP_065170	Q6ICH7	ASPH2_HUMAN	Homo sapiens aspartate beta-hydroxylase domain containing 2 (ASPHD2), mRNA.	341					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity	p.R315L(1)|p.P341P(1)		endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						GATGGCCCACGGGTGGTTTTC	0.592000												
PPP2R5C	5527	broad.mit.edu	37	14	102356590	102356590	+	Missense_Mutation	SNP	G	G	A	rs4617782		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:102356590G>A	uc001yko.3	+	5	786	c.646G>A	c.(646-648)Gag>Aag	p.E216K	PPP2R5C_uc010txr.2_Missense_Mutation_p.E247K|PPP2R5C_uc001ykk.3_Missense_Mutation_p.E271K|PPP2R5C_uc010txt.2_Missense_Mutation_p.E206K|PPP2R5C_uc001ykn.3_Missense_Mutation_p.E216K|PPP2R5C_uc001ykp.3_Missense_Mutation_p.E216K|PPP2R5C_uc001ykq.3_Missense_Mutation_p.E114K	NM_002719	NP_002710	Q13362	2A5G_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B', gamma (PPP2R5C), transcript variant 1, mRNA.	216					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						TTATGAAACAGAGCATCATAA	0.388000												
MFSD10	10227	broad.mit.edu	37	4	2934476	2934476	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:2934476C>T	uc003gfw.3	-	3	696	c.382G>A	c.(382-384)Gcc>Acc	p.A128T	MFSD10_uc021xks.1_Missense_Mutation_p.A52T|MFSD10_uc003gfz.3_Missense_Mutation_p.A128T|NOP14-AS1_uc003ggd.1_5'Flank|NOP14-AS1_uc003gge.1_5'Flank|NOP14-AS1_uc003ggg.1_5'Flank|NOP14-AS1_uc003ggh.3_5'Flank	NM_001120	NP_001139541	Q14728	MFS10_HUMAN	Homo sapiens major facilitator superfamily domain containing 10 (MFSD10), transcript variant 1, mRNA.	128					apoptosis	integral to membrane	tetracycline transporter activity			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TATGAGGTGGCCACACCCATC	0.642000												
FOXK1	221937	broad.mit.edu	37	7	4796712	4796712	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:4796712C>T	uc003snc.1	+	4	1148	c.1138C>T	c.(1138-1140)Cga>Tga	p.R380*	FOXK1_uc003sna.1_Nonsense_Mutation_p.R217*	NM_001037165	NP_001032242	P85037	FOXK1_HUMAN	Homo sapiens forkhead box K1 (FOXK1), mRNA.	380					cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		GTCCTTTTGGCGAATAGACCC	0.572000												
TTN	7273	broad.mit.edu	37	2	179597674	179597674	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:179597674C>T	uc021vsy.1	-	51	12722	c.12497G>A	c.(12496-12498)gGc>gAc	p.G4166D	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G827D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5093							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)			AGAGGCTGTGCCTTCCACAAA	0.488000												
SPTBN2	6712	broad.mit.edu	37	11	66461764	66461764	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:66461764G>A	uc001ojd.3	-	20	4421	c.4349C>T	c.(4348-4350)gCc>gTc	p.A1450V		NM_006946	NP_008877	O15020	SPTN2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 2 (SPTBN2), mRNA.	1450					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GTCCTCCTGGGCCAGTGCTTT	0.632000											OREG0021113	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
MDN1	23195	broad.mit.edu	37	6	90372631	90372631	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:90372631G>A	uc003pnn.1	-	85	14408	c.14292C>T	c.(14290-14292)ggC>ggT	p.G4764G		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	4764					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CATTGAGATCGCCCATGTGTT	0.468000												
IGSF9	57549	broad.mit.edu	37	1	159907504	159907504	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:159907504G>A	uc001fur.2	-	3	570	c.372C>T	c.(370-372)aaC>aaT	p.N124N	IGSF9_uc001fuq.2_Silent_p.N124N	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	Homo sapiens immunoglobulin superfamily, member 9 (IGSF9), transcript variant 1, mRNA.	124	Ig-like 1.					cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			CCCAGGAGCCGTTAGCAAAAT	0.592000												
NETO2	81831	broad.mit.edu	37	16	47117246	47117246	+	Silent	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:47117246T>C	uc002eer.2	-	8	1877	c.1464A>G	c.(1462-1464)ggA>ggG	p.G488G	NETO2_uc002eeq.2_Silent_p.G223G|NETO2_uc010vgf.2_Silent_p.G481G	NM_018092	NP_060562	Q8NC67	NETO2_HUMAN	Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 2 (NETO2), transcript variant 1, mRNA.	488						integral to membrane	receptor activity	p.Q487H(2)		breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				GGCACTCATGTCCCTGTTTGA	0.448000										HNSCC(25;0.065)		
XRN2	22803	broad.mit.edu	37	20	21311291	21311291	+	Missense_Mutation	SNP	G	G	A	rs6137317		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:21311291G>A	uc002wsf.1	+	5	619	c.524G>A	c.(523-525)cGc>cAc	p.R175H	XRN2_uc002wsg.1_Missense_Mutation_p.R99H|XRN2_uc010zsk.1_Missense_Mutation_p.R121H	NM_012255	NP_036387	Q9H0D6	XRN2_HUMAN	Homo sapiens 5'-3' exoribonuclease 2 (XRN2), mRNA.	175					DNA catabolic process, exonucleolytic|RNA catabolic process|cell growth|mRNA processing|regulation of transcription, DNA-dependent|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						AAATGCCTTCGCTATTACATA	0.328000												
RAPGEF6	51735	broad.mit.edu	37	5	130764881	130764881	+	Silent	SNP	G	G	A	rs144023710		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:130764881G>A	uc003kvn.2	-	26	4700	c.4494C>T	c.(4492-4494)gaC>gaT	p.D1498D	RAPGEF6_uc003kvp.2_Silent_p.D1548D|RAPGEF6_uc003kvo.2_Intron|RAPGEF6_uc010jdi.2_Silent_p.D1506D|RAPGEF6_uc010jdj.2_Intron|RAPGEF6_uc003kvm.2_Silent_p.D421D	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 6 (RAPGEF6), transcript variant 2, mRNA.	1498					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|Ras GTPase binding|guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TATACCTATCGTCCTTCTTGG	0.433000												
C6orf118	168090	broad.mit.edu	37	6	165715311	165715311	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:165715311C>T	uc003qum.4	-	1	536	c.500G>A	c.(499-501)gGc>gAc	p.G167D	C6orf118_uc011egi.1_Non-coding_Transcript	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN	Homo sapiens chromosome 6 open reading frame 118 (C6orf118), mRNA.	167										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		TCCAGGAGGGCCCCGTCCAGG	0.632000												
JMJD7-PLA2G4B	8681	broad.mit.edu	37	15	42132384	42132384	+	Missense_Mutation	SNP	C	C	T	rs149781451	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:42132384C>T	uc001zoo.4	+	6	771	c.731C>T	c.(730-732)aCg>aTg	p.T244M	JMJD7-PLA2G4B_uc001zon.2_3'UTR|JMJD7-PLA2G4B_uc010bcn.3_Missense_Mutation_p.T244M|JMJD7-PLA2G4B_uc001zoq.4_5'UTR|JMJD7-PLA2G4B_uc010bco.3_Missense_Mutation_p.T13M|JMJD7-PLA2G4B_uc001zor.1_5'Flank	NM_005090	NP_005081	P0C869	PA24B_HUMAN	Homo sapiens JMJD7-PLA2G4B readthrough (JMJD7-PLA2G4B), transcript variant 1, mRNA.	13					arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						TGCCTGCTCACGGTTCGTGTC	0.662000												
MCTP1	79772	broad.mit.edu	37	5	94267673	94267673	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:94267673C>T	uc003kkx.2	-	5	1197	c.1197G>A	c.(1195-1197)tgG>tgA	p.W399*	MCTP1_uc003kkv.2_Nonsense_Mutation_p.W178*|MCTP1_uc003kkw.2_Nonsense_Mutation_p.W178*|MCTP1_uc003kkz.2_Nonsense_Mutation_p.W60*|MCTP1_uc003kku.2_5'Flank	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN	Homo sapiens multiple C2 domains, transmembrane 1 (MCTP1), transcript variant L, mRNA.	399					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TTGATCTTTTCCAACTCTTCC	0.358000												
ZCCHC16	340595	broad.mit.edu	37	X	111698834	111698834	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:111698834G>A	uc022cct.1	+	0	878	c.878G>A	c.(877-879)tGc>tAc	p.C293Y	ZCCHC16_uc004epo.1_Missense_Mutation_p.C293Y	NM_001004308	NP_001004308	Q6ZR62	ZCH16_HUMAN	Homo sapiens zinc finger, CCHC domain containing 16 (ZCCHC16), mRNA.	293							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						ACAAGAGATTGCCTTGCCAAA	0.517000												
ZNF205	7755	broad.mit.edu	37	16	3169748	3169748	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:3169748C>T	uc002cub.3	+	6	1222	c.1087C>T	c.(1087-1089)Ccc>Tcc	p.P363S	ZNF205_uc002cua.3_Missense_Mutation_p.P363S	NM_001042428	NP_003447	O95201	ZN205_HUMAN	Homo sapiens zinc finger protein 205 (ZNF205), transcript variant 2, mRNA.	363					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.K362M(1)|p.K362E(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						GGGCGAGAAGCCCTACACCTG	0.657000												
SCRN2	90507	broad.mit.edu	37	17	45915225	45915225	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:45915225G>A	uc002imd.3	-	7	1389	c.1263C>T	c.(1261-1263)agC>agT	p.S421S	SCRN2_uc002imf.3_3'UTR	NM_138355	NP_612364	Q96FV2	SCRN2_HUMAN	Homo sapiens secernin 2 (SCRN2), transcript variant 1, mRNA.	421					proteolysis		dipeptidase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						CATAAGCCTGGCTCTCCCTCT	0.657000												
IFT122	55764	broad.mit.edu	37	3	129238561	129238561	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:129238561C>A	uc003eml.3	+	29	3981	c.3775C>A	c.(3775-3777)Ccc>Acc	p.P1259T	IFT122_uc003emm.3_Missense_Mutation_p.P1208T|IFT122_uc003emn.3_Missense_Mutation_p.P1149T|IFT122_uc003emo.3_Missense_Mutation_p.P1098T|IFT122_uc003emp.3_Missense_Mutation_p.P1058T|IFT122_uc010htc.3_Missense_Mutation_p.P1201T|IFT122_uc011bky.2_Missense_Mutation_p.P999T|IFT122_uc011bla.2_Missense_Mutation_p.P982T|IFT122_uc003emr.3_Missense_Mutation_p.P961T|IFT122_uc010hte.3_Missense_Mutation_p.P534T|IFT122_uc003ems.3_Missense_Mutation_p.P590T	NM_052985	NP_443711	Q9HBG6	IF122_HUMAN	Homo sapiens intraflagellar transport 122 homolog (Chlamydomonas) (IFT122), transcript variant 1, mRNA.	1208					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						TACCATGTGCCCCTCCTGCTT	0.617000												
SV2B	9899	broad.mit.edu	37	15	91769547	91769547	+	Silent	SNP	C	C	T	rs147933433	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:91769547C>T	uc002bqv.3	+	2	945	c.54C>T	c.(52-54)ggC>ggT	p.G18G	SV2B_uc002bqt.3_Silent_p.G18G|SV2B_uc002bqu.4_Non-coding_Transcript|SV2B_uc010uqv.2_Intron	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2B (SV2B), transcript variant 1, mRNA.	18					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			CCAGTGATGGCTATTACCGCG	0.522000												
AXIN1	8312	broad.mit.edu	37	16	339492	339492	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:339492C>T	uc002cgp.2	-	9	2799	c.2410G>A	c.(2410-2412)Gct>Act	p.A804T	LUC7L_uc021szo.1_Intron|AXIN1_uc002cgq.2_Missense_Mutation_p.A768T	NM_003502	NP_003493	O15169	AXIN1_HUMAN	Homo sapiens axin 1 (AXIN1), transcript variant 1, mRNA.	804	DIX.				Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis|activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	GTPase activator activity|I-SMAD binding|armadillo repeat domain binding|beta-catenin binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				AGGGTGACAGCGCGGCCCCTC	0.657000												
XKR6	286046	broad.mit.edu	37	8	10755900	10755900	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:10755900G>A	uc003wtk.1	-	2	1515	c.1488C>T	c.(1486-1488)ggC>ggT	p.G496G		NM_173683	NP_775954	Q5GH73	XKR6_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 6 (XKR6), transcript variant 2, mRNA.	496						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		GATGCAGCACGCCATAGTATA	0.562000												
GOLGA3	2802	broad.mit.edu	37	12	133385136	133385136	+	Splice_Site	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:133385136C>T	uc001ukz.1	-	5	1079	c.520_splice	c.e5-1	p.S174_splice	GOLGA3_uc021rgt.1_Splice_Site|GOLGA3_uc001ula.1_Splice_Site_p.S174_splice|GOLGA3_uc001ulb.3_Splice_Site_p.S174_splice	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Homo sapiens golgin A3 (GOLGA3), transcript variant 1, mRNA.	174	Golgi-targeting domain.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GTTGACTGGACTGAGAAGAAA	0.433000												
INPP5F	22876	broad.mit.edu	37	10	121551118	121551118	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:121551118G>A	uc001leo.3	+	3	621	c.405G>A	c.(403-405)acG>acA	p.T135T	INPP5F_uc001len.4_Silent_p.T135T	NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase F (INPP5F), transcript variant 1, mRNA.	135							phosphoric ester hydrolase activity			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		AGACCTTTACGCATATTAAAT	0.318000												
ENOPH1	58478	broad.mit.edu	37	4	83381193	83381193	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:83381193G>A	uc003hmv.3	+	5	963	c.706G>A	c.(706-708)Gca>Aca	p.A236T	ENOPH1_uc003hmx.3_Missense_Mutation_p.A90T	NM_021204	NP_067027	Q9UHY7	ENOPH_HUMAN	Homo sapiens enolase-phosphatase 1 (ENOPH1), mRNA.	236					L-methionine salvage from methylthioadenosine	cytoplasm|nucleus	2,3-diketo-5-methylthiopentyl-1-phosphate enolase activity|2-hydroxy-3-keto-5-methylthiopentenyl-1-phosphate phosphatase activity|acireductone synthase activity|magnesium ion binding|phosphoglycolate phosphatase activity	p.N235N(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|skin(1)	13						ACCAGGCAACGCAGGATTAAC	0.478000												
KRT86	3892	broad.mit.edu	37	12	52695732	52695732	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:52695732C>T	uc010snq.2	+	1	165	c.32C>T	c.(31-33)gCc>gTc	p.A11V	KRT86_uc009zmg.3_Missense_Mutation_p.A11V|KRT81_uc001sac.3_Intron|KRT86_uc001sad.3_Missense_Mutation_p.A11V	NM_002284	NP_002275	O43790	KRT86_HUMAN	Homo sapiens keratin 86 (KRT86), mRNA.	11	Head.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		GGTGGCCGCGCCTTCAGCTGC	0.667000												
PIK3R5	23533	broad.mit.edu	37	17	8791611	8791611	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:8791611C>T	uc002glt.3	-	9	1560	c.1493G>A	c.(1492-1494)cGc>cAc	p.R498H	PIK3R5_uc010vuz.2_Missense_Mutation_p.R498H|PIK3R5_uc021tqc.1_Missense_Mutation_p.R112H|PIK3R5_uc010cob.2_Missense_Mutation_p.R112H|PIK3R5_uc010coa.2_Missense_Mutation_p.R112H|PIK3R5_uc002glu.4_Missense_Mutation_p.R112H	NM_014308	NP_001238784	Q8WYR1	PI3R5_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 5 (PIK3R5), transcript variant 2, mRNA.	498					platelet activation	cytosol|membrane|nucleus		p.R498H(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						GCGCTGGGGGCGTGAAGCAGG	0.657000												
TAOK3	51347	broad.mit.edu	37	12	118627718	118627718	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:118627718C>T	uc001twx.3	-	13	1518	c.1223G>A	c.(1222-1224)gGc>gAc	p.G408D	TAOK3_uc001twv.3_5'UTR|TAOK3_uc001tww.3_Missense_Mutation_p.G238D|TAOK3_uc001twy.4_Missense_Mutation_p.G408D	NM_016281	NP_057365	Q9H2K8	TAOK3_HUMAN	Homo sapiens TAO kinase 3 (TAOK3), mRNA.	408					MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ATCGCCGTGGCCCGCCTCATC	0.572000												
PEX7	5191	broad.mit.edu	37	6	137187847	137187847	+	Silent	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:137187847T>C	uc003qhd.3	+	5	711	c.609T>C	c.(607-609)agT>agC	p.S203S	PEX7_uc010kgx.3_Non-coding_Transcript	NM_000288	NP_000279	O00628	PEX7_HUMAN	Homo sapiens peroxisomal biogenesis factor 7 (PEX7), mRNA.	203					ether lipid biosynthetic process|protein import into peroxisome matrix	peroxisome	peroxisome matrix targeting signal-2 binding			lung(7)|prostate(1)	8	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492)		AAATCTTGAGTTGTGACTGGT	0.388000												
TSPAN18	90139	broad.mit.edu	37	11	44931414	44931414	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:44931414C>T	uc001myg.3	+	1	232	c.222C>T	c.(220-222)tgC>tgT	p.C74C	TSPAN18_uc001mye.4_Silent_p.C74C|TP53I11_uc001myf.1_Intron	NM_130783	NP_570139	Q96SJ8	TSN18_HUMAN	Homo sapiens tetraspanin 18 (TSPAN18), mRNA.	74						integral to membrane				endometrium(1)|large_intestine(6)|lung(3)	10						TGGGCTGCTGCGGGGCCGTCC	0.637000												
LRPAP1	4043	broad.mit.edu	37	4	3519827	3519827	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:3519827G>A	uc003ghh.4	-	4	770	c.685C>T	c.(685-687)Cgc>Tgc	p.R229C		NM_002337	NP_002328	P30533	AMRP_HUMAN	Homo sapiens low density lipoprotein receptor-related protein associated protein 1 (LRPAP1), mRNA.	229					negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport	cell surface|integral to membrane|plasma membrane	asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.165)		TTGATGCTGCGCAGCTTCTCC	0.627000												
FAM186B	84070	broad.mit.edu	37	12	49994713	49994713	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:49994713G>A	uc001ruo.3	-	3	883	c.710C>T	c.(709-711)gCc>gTc	p.A237V	FAM186B_uc010smk.2_Missense_Mutation_p.A147V	NM_032130	NP_115506	Q8IYM0	F186B_HUMAN	Homo sapiens family with sequence similarity 186, member B (FAM186B), transcript variant 1, mRNA.	237						protein complex				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CACCACAGTGGCCATGTACCT	0.562000												
MAPK7	5598	broad.mit.edu	37	17	19283208	19283208	+	Missense_Mutation	SNP	G	G	A	rs147142467	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:19283208G>A	uc002gvn.3	+	2	732	c.346G>A	c.(346-348)Gcc>Acc	p.A116T	B9D1_uc010cqm.1_5'Flank|MAPK7_uc002gvo.3_Intron|MAPK7_uc002gvq.3_Missense_Mutation_p.A116T|MAPK7_uc002gvp.3_Missense_Mutation_p.A116T	NM_139033	NP_620601	Q13164	MK07_HUMAN	Homo sapiens mitogen-activated protein kinase 7 (MAPK7), transcript variant 1, mRNA.	116	Protein kinase.|Required for binding to MAP2K5 (By similarity).				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|cell cycle|cell differentiation|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CAACATCATCGCCATCAAGGA	0.512000												
CTSH	1512	broad.mit.edu	37	15	79229690	79229690	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:79229690C>T	uc021srk.1	-	2	296	c.199G>A	c.(199-201)Gcc>Acc	p.A67T	CTSH_uc010unf.1_Non-coding_Transcript|CTSH_uc010ung.1_Missense_Mutation_p.A67T	NM_004390	NP_004381	P09668	CATH_HUMAN	Homo sapiens cathepsin H (CTSH), mRNA.	67					protein destabilization|proteolysis	lysosome	cysteine-type endopeptidase activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)	10						TTGTTGTGGGCGTTTATCTTC	0.512000												
FANCM	57697	broad.mit.edu	37	14	45667954	45667954	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:45667954G>A	uc001wwd.4	+	21	5923	c.5824G>A	c.(5824-5826)Gca>Aca	p.A1942T	FANCM_uc010anf.3_Missense_Mutation_p.A1916T|FANCM_uc001wwe.4_Missense_Mutation_p.A1478T|FANCM_uc010ang.3_Missense_Mutation_p.A1191T	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Homo sapiens Fanconi anemia, complementation group M (FANCM), mRNA.	1942	Interaction with FAAP24 and EME1.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AGAAGAAACCGCAGATTTGCT	0.408000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia			
SPARC	6678	broad.mit.edu	37	5	151043671	151043671	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:151043671G>A	uc003lui.3	-	8	965	c.860C>T	c.(859-861)gCc>gTc	p.A287V	SPARC_uc003lug.3_Missense_Mutation_p.A121V	NM_003118	NP_003109	P09486	SPRC_HUMAN	Homo sapiens secreted protein, acidic, cysteine-rich (osteonectin) (SPARC), mRNA.	287	EF-hand.				ossification|platelet activation|platelet degranulation|signal transduction	basement membrane|extracellular space|platelet alpha granule lumen	calcium ion binding|collagen binding	p.A287V(2)		central_nervous_system(3)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;0.00118)	Becaplermin(DB00102)	GAAGCAGCCGGCCCACTCATC	0.582000												
PTCHD2	57540	broad.mit.edu	37	1	11574496	11574496	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:11574496C>T	uc001ash.4	+	3	1504	c.1366C>T	c.(1366-1368)Cgc>Tgc	p.R456C	PTCHD2_uc001asi.1_Missense_Mutation_p.R456C	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	456					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	p.R673C(1)		NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CTATGAAGTGCGCAGGACGTT	0.532000												
TMEM100	55273	broad.mit.edu	37	17	53798230	53798230	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:53798230C>T	uc002iuj.4	-	1	513	c.202G>A	c.(202-204)Ggc>Agc	p.G68S	TMEM100_uc002iuk.4_Missense_Mutation_p.G68S|TMEM100_uc021uai.1_Missense_Mutation_p.G68S	NM_018286	NP_060756	Q9NV29	TM100_HUMAN	Homo sapiens transmembrane protein 100 (TMEM100), transcript variant 2, mRNA.	68						integral to membrane				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	11						ACCACGATGCCGGCGATGAAG	0.527000												
LDHAL6B	92483	broad.mit.edu	37	15	59499582	59499582	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:59499582G>A	uc002agb.3	+	0	541	c.443G>A	c.(442-444)cGc>cAc	p.R148H	MYO1E_uc002aga.3_Intron	NM_033195	NP_149972	Q9BYZ2	LDH6B_HUMAN	Homo sapiens lactate dehydrogenase A-like 6B (LDHAL6B), mRNA.	148					glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10					NADH(DB00157)	GCAGGTGCACGCCAAGAAAAG	0.438000												
ITM2C	81618	broad.mit.edu	37	2	231740379	231740379	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:231740379C>T	uc002vqz.3	+	2	426	c.306C>T	c.(304-306)gaC>gaT	p.D102D	ITM2C_uc002vra.3_Silent_p.D55D|ITM2C_uc002vrb.3_Silent_p.D102D|ITM2C_uc002vrc.3_5'UTR|ITM2C_uc002vrd.3_5'UTR	NM_030926	NP_112188	Q9NQX7	ITM2C_HUMAN	Homo sapiens integral membrane protein 2C (ITM2C), transcript variant 1, mRNA.	102					negative regulation of neuron projection development|neuron differentiation	Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	beta-amyloid binding			cervix(2)|lung(1)|ovary(1)|skin(1)	5		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		TGTATGAGGACTCCCTGTCCT	0.567000												
FHOD3	80206	broad.mit.edu	37	18	34349305	34349305	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:34349305C>T	uc021uiv.1	+	27	4799	c.4702C>T	c.(4702-4704)Cgc>Tgc	p.R1568C	FHOD3_uc002kzs.1_Missense_Mutation_p.R1385C|FHOD3_uc002kzt.1_Missense_Mutation_p.R1368C|FHOD3_uc010dmz.1_Missense_Mutation_p.R1100C|FHOD3_uc010dnb.1_Silent_p.T305T	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	Homo sapiens formin homology 2 domain containing 3 (FHOD3), mRNA.	1368					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				GATCATGGACCGCATCGTCAA	0.522000												
POLE	5426	broad.mit.edu	37	12	133256788	133256788	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:133256788C>T	uc001uks.1	-	3	350	c.306G>A	c.(304-306)ccG>ccA	p.P102P	POLE_uc010tbq.1_Non-coding_Transcript|POLE_uc009zyu.1_Silent_p.P75P	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA.	102					DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|chromatin binding|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		TGTAGAAATACGGTTTATAGG	0.468000								DNA polymerases (catalytic subunits)				
ARFGAP2	84364	broad.mit.edu	37	11	47188378	47188378	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:47188378C>T	uc001ndt.3	-	12	1537	c.1265G>A	c.(1264-1266)cGt>cAt	p.R422H	ARFGAP2_uc010rha.2_Missense_Mutation_p.R153H|ARFGAP2_uc010rhb.2_Missense_Mutation_p.R394H|ARFGAP2_uc001ndu.3_Missense_Mutation_p.R286H|ARFGAP2_uc010rhc.2_Missense_Mutation_p.R153H	NM_032389	NP_115765	Q8N6H7	ARFG2_HUMAN	Homo sapiens ADP-ribosylation factor GTPase activating protein 2 (ARFGAP2), transcript variant 1, mRNA.	422	Required for interaction with coatomer.				protein transport|regulation of ARF GTPase activity|vesicle-mediated transport	Golgi membrane|nucleolus|plasma membrane	ARF GTPase activator activity|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						GAATTTCTGACGCGCCTCACT	0.577000												
EYA4	2070	broad.mit.edu	37	6	133789774	133789774	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:133789774C>T	uc011ecs.2	+	10	1191	c.875C>T	c.(874-876)gCg>gTg	p.A292V	EYA4_uc011ecq.2_Missense_Mutation_p.A238V|EYA4_uc011ecr.2_Missense_Mutation_p.A238V|EYA4_uc003qec.4_Missense_Mutation_p.A292V|EYA4_uc003qed.4_Missense_Mutation_p.A292V|EYA4_uc003qee.4_Missense_Mutation_p.A269V|BC041459_uc003qef.1_Intron	NM_004100	NP_004091	O95677	EYA4_HUMAN	Homo sapiens eyes absent homolog 4 (Drosophila) (EYA4), transcript variant 1, mRNA.	292					DNA repair|anatomical structure morphogenesis|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	p.A292A(1)		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)		ACGTATGGAGCGTATATGACA	0.433000												
TGM5	9333	broad.mit.edu	37	15	43552444	43552444	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:43552444C>T	uc001zrd.2	-	2	250	c.242G>A	c.(241-243)cGc>cAc	p.R81H	TGM5_uc001zre.2_Intron	NM_201631	NP_963925	O43548	TGM5_HUMAN	Homo sapiens transglutaminase 5 (TGM5), transcript variant 1, mRNA.	81					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	GCTGTGATGGCGTGCCAGGCT	0.677000												
ALDH8A1	64577	broad.mit.edu	37	6	135271176	135271176	+	Missense_Mutation	SNP	C	C	T	rs150345681	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:135271176C>T	uc003qew.3	-	0	85	c.16G>A	c.(16-18)Gca>Aca	p.A6T	ALDH8A1_uc011ecx.2_Missense_Mutation_p.A6T|ALDH8A1_uc003qex.3_Missense_Mutation_p.A6T|ALDH8A1_uc010kgh.3_5'UTR	NM_022568	NP_072090	Q9H2A2	AL8A1_HUMAN	Homo sapiens aldehyde dehydrogenase 8 family, member A1 (ALDH8A1), transcript variant 1, mRNA.	6					retinal metabolic process	cytoplasm	retinal dehydrogenase activity	p.A6T(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		ATCAAAAGTGCGTTTGTTCCA	0.448000												
OSGIN2	734	broad.mit.edu	37	8	90937134	90937134	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:90937134C>T	uc003yeh.3	+	5	1284	c.1024C>T	c.(1024-1026)Cgt>Tgt	p.R342C	OSGIN2_uc003yeg.3_Missense_Mutation_p.R298C	NM_001126111	NP_004328	Q9Y236	OSGI2_HUMAN	Homo sapiens oxidative stress induced growth inhibitor family member 2 (OSGIN2), transcript variant 1, mRNA.	298					germ cell development|meiosis					breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(11;0.0344)			AGGAAAGTTGCGTGGCAAAGT	0.438000												
TAAR5	9038	broad.mit.edu	37	6	132910625	132910625	+	Silent	SNP	C	C	T	rs145737701		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:132910625C>T	uc003qdk.2	-	0	253	c.201G>A	c.(199-201)acG>acA	p.T67T		NM_003967	NP_003958	O14804	TAAR5_HUMAN	Homo sapiens trace amine associated receptor 5 (TAAR5), mRNA.	67					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		AGTTGGTGGGCGTGTGAAGCG	0.557000												
LPPR3	79948	broad.mit.edu	37	19	814918	814918	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:814918G>A	uc002lpw.1	-	4	631	c.567C>T	c.(565-567)tcC>tcT	p.S189S	LPPR3_uc021ulz.1_5'Flank|LPPR3_uc002lpx.1_Silent_p.S189S|LPPR3_uc002lpy.1_5'UTR	NM_024888	NP_079164	Q6T4P5	LPPR3_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 3 (LPPR3), mRNA.	189						integral to membrane	phosphatidate phosphatase activity	p.S189S(1)									TGTCGTGGCCGGAGCAGATGT	0.622000												
GEMIN4	50628	broad.mit.edu	37	17	650203	650203	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:650203C>T	uc002frs.1	-	1	1199	c.1080G>A	c.(1078-1080)acG>acA	p.T360T	GEMIN4_uc010vqa.1_3'UTR	NM_015721	NP_056536	P57678	GEMI4_HUMAN	Homo sapiens gem (nuclear organelle) associated protein 4 (GEMIN4), mRNA.	360					rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		TCAGGTAGAGCGTCGCGTTCT	0.627000												
CNGB1	1258	broad.mit.edu	37	16	57957240	57957240	+	Missense_Mutation	SNP	G	G	A	rs78292723	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:57957240G>A	uc002emt.2	-	17	1645	c.1580C>T	c.(1579-1581)gCg>gTg	p.A527V	CNGB1_uc010cdh.2_Missense_Mutation_p.A521V	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 1 (CNGB1), transcript variant 1, mRNA.	527					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						TGGTGACAACGCCTTGAGCTC	0.572000												
TNS3	64759	broad.mit.edu	37	7	47409180	47409180	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:47409180C>T	uc003tnw.3	-	16	1421	c.1063G>A	c.(1063-1065)Gcg>Acg	p.A355T	TNS3_uc022acn.1_5'UTR	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	Homo sapiens tensin 3 (TNS3), mRNA.	355						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CTCACCTTCGCGTAAAGGCTG	0.607000												
TBCCD1	55171	broad.mit.edu	37	3	186281967	186281967	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:186281967C>T	uc003fqg.3	-	1	281	c.152G>A	c.(151-153)cGc>cAc	p.R51H	TBCCD1_uc011bry.2_Missense_Mutation_p.R51H|TBCCD1_uc003fqh.3_Intron	NM_018138	NP_060608	Q9NVR7	TBCC1_HUMAN	Homo sapiens TBCC domain containing 1 (TBCCD1), transcript variant 2, mRNA.	51					cell morphogenesis|maintenance of Golgi location|maintenance of centrosome location|regulation of cell migration|regulation of cell shape	spindle pole centrosome	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		CCAGTAGAGGCGCGGGTAAGC	0.517000												
OBSCN	84033	broad.mit.edu	37	1	228461716	228461716	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:228461716G>A	uc009xez.1	+	17	5427	c.5383G>A	c.(5383-5385)Gca>Aca	p.A1795T	OBSCN_uc001hsn.3_Missense_Mutation_p.A1795T	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	1795	Fibronectin type-III 2.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCGTGTGGGCGCAGAGGGGCA	0.682000												
GPR22	2845	broad.mit.edu	37	7	107115658	107115658	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:107115658C>T	uc003vef.3	+	2	2499	c.1153C>T	c.(1153-1155)Cga>Tga	p.R385*	COG5_uc003vec.2_Intron|COG5_uc003ved.2_Intron|COG5_uc003vee.2_Intron|GPR22_uc022ajv.1_Nonsense_Mutation_p.R385*	NM_005295	NP_005286	Q99680	GPR22_HUMAN	Homo sapiens G protein-coupled receptor 22 (GPR22), mRNA.	385						integral to plasma membrane	G-protein coupled receptor activity			large_intestine(3)|lung(6)|ovary(2)|stomach(1)	12						AATGAAAAAGCGAGTTGTTTC	0.313000												
CDON	50937	broad.mit.edu	37	11	125853941	125853941	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:125853941T>C	uc009zbw.3	-	15	2949	c.2821A>G	c.(2821-2823)Acc>Gcc	p.T941A	CDON_uc001qdb.4_Missense_Mutation_p.T318A|CDON_uc001qdc.4_Missense_Mutation_p.T941A	NM_001243597	NP_001230526	Q4KMG0	CDON_HUMAN	Homo sapiens Cdon homolog (mouse) (CDON), transcript variant 1, mRNA.	941					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)		TTTGGAGGGGTACTCAAGTCT	0.458000												
PCDHAC2	56134	broad.mit.edu	37	5	140175845	140175845	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:140175845G>A	uc003lhd.2	+	0	1402	c.1296G>A	c.(1294-1296)tcG>tcA	p.S432S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Silent_p.S432S|PCDHAC2_uc011czy.2_Silent_p.S432S	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	446	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGGGGGCTCGCCTTCACTGT	0.627000												
ABHD14A	25864	broad.mit.edu	37	3	52014637	52014637	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:52014637C>T	uc003dco.3	+	3	736	c.626C>T	c.(625-627)gCt>gTt	p.A209V	ABHD14B_uc003dcn.3_Intron|ACY1_uc011bea.2_Intron|ACY1_uc011beb.2_5'Flank|ACY1_uc003dcp.3_5'Flank|ACY1_uc003dcq.3_5'Flank|ACY1_uc021wzb.1_5'Flank|ACY1_uc021wzc.1_5'Flank|ACY1_uc021wzd.1_5'Flank	NM_015407	NP_056222	Q9BUJ0	ABHEA_HUMAN	Homo sapiens abhydrolase domain containing 14A (ABHD14A), mRNA.	209						cytoplasm|integral to membrane	hydrolase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CAATTCTGGGCTGTGAAGGTA	0.567000												
THSD4	79875	broad.mit.edu	37	15	71549040	71549040	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:71549040A>G	uc002atb.1	+	4	1080	c.1001A>G	c.(1000-1002)gAa>gGa	p.E334G	THSD4_uc002atd.1_Missense_Mutation_p.E8G	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	Homo sapiens thrombospondin, type I, domain containing 4 (THSD4), mRNA.	334						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TATGAGTGGGAACCATTTGCA	0.433000												
KIAA0319	9856	broad.mit.edu	37	6	24588855	24588855	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:24588855C>T	uc011djo.2	-	3	1460	c.960G>A	c.(958-960)gaG>gaA	p.E320E	KIAA0319_uc011djp.2_Silent_p.E275E|KIAA0319_uc003neh.1_Silent_p.E320E|KIAA0319_uc011djq.1_Silent_p.E311E|KIAA0319_uc011djr.1_Silent_p.E320E	NM_001168375	NP_001161848	Q5VV43	K0319_HUMAN	Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA.	320					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						ATATGGGTAGCTCAGATGGGG	0.507000												
HDLBP	3069	broad.mit.edu	37	2	242179074	242179074	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:242179074G>A	uc002waz.3	-	18	2726	c.2553C>T	c.(2551-2553)ggC>ggT	p.G851G	HDLBP_uc002wba.3_Silent_p.G851G|HDLBP_uc021vzg.1_Silent_p.G818G	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	Homo sapiens high density lipoprotein binding protein (HDLBP), transcript variant 2, mRNA.	851	KH 10.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	RNA binding|lipid binding|protein binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		AGTCCTTGGCGCCCTTGAGGG	0.602000												
NCALD	83988	broad.mit.edu	37	8	102731596	102731596	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:102731596C>T	uc003yke.3	-	1	631	c.262G>A	c.(262-264)Gcc>Acc	p.A88T	NCALD_uc003ykf.3_Missense_Mutation_p.A88T|NCALD_uc003ykg.3_Missense_Mutation_p.A88T|NCALD_uc003ykh.3_Missense_Mutation_p.A88T|NCALD_uc003yki.3_Missense_Mutation_p.A88T|NCALD_uc003ykj.3_Missense_Mutation_p.A88T|NCALD_uc003ykk.3_Missense_Mutation_p.A88T|NCALD_uc003ykl.3_Missense_Mutation_p.A88T	NM_032041	NP_114430	P61601	NCALD_HUMAN	Homo sapiens neurocalcin delta (NCALD), transcript variant 8, mRNA.	88	EF-hand 2.				synaptic transmission|vesicle-mediated transport	clathrin coat of trans-Golgi network vesicle|cytosol	actin binding|calcium ion binding|clathrin binding|tubulin binding			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)			ACACTCAAGGCGATGATGAAT	0.478000												
LUZP4	51213	broad.mit.edu	37	X	114540908	114540908	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:114540908C>T	uc004eqa.3	+	3	515	c.481C>T	c.(481-483)Cga>Tga	p.R161*	LUZP4_uc004eqb.3_Nonsense_Mutation_p.R79*	NM_016383	NP_057467	Q9P127	LUZP4_HUMAN	Homo sapiens leucine zipper protein 4 (LUZP4), mRNA.	161						nucleus		p.R161Q(1)		endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						TCATTCTGAGCGATCCCGAAA	0.463000												
FAT4	79633	broad.mit.edu	37	4	126238572	126238572	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:126238572C>T	uc003ifj.4	+	0	1006	c.1006C>T	c.(1006-1008)Cgc>Tgc	p.R336C		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	336	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCTCACTGGGCGCGCCGAGGC	0.627000											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CFI	3426	broad.mit.edu	37	4	110662253	110662253	+	Silent	SNP	A	A	C	rs145296508		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:110662253A>C	uc011cft.2	-	13	1780	c.1572T>G	c.(1570-1572)ggT>ggG	p.G524G	CFI_uc003hzq.3_Silent_p.G313G|CFI_uc003hzr.4_Silent_p.G516G	NM_000204	NP_000195	P05156	CFAI_HUMAN	Homo sapiens complement factor I (CFI), mRNA.	516	Peptidase S1.		D -> V (in AHUS3).		complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		CATCGATGGAACCATCATATG	0.443000												
C14orf102	55051	broad.mit.edu	37	14	90784357	90784357	+	Silent	SNP	C	C	T	rs146955955		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:90784357C>T	uc001xyi.2	-	1	398	c.165G>A	c.(163-165)ccG>ccA	p.P55P	C14orf102_uc001xyj.2_Intron	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN	Homo sapiens chromosome 14 open reading frame 102 (C14orf102), mRNA.	55							protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(10)|lung(12)|ovary(5)|prostate(2)|upper_aerodigestive_tract(1)	39		all_cancers(154;0.118)		COAD - Colon adenocarcinoma(157;0.218)		ACCTTGTCAGCGGTAACCCTT	0.418000												
TNPO2	30000	broad.mit.edu	37	19	12826457	12826457	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:12826457T>G	uc002mup.3	-	3	1160	c.698A>C	c.(697-699)aAc>aCc	p.N233T	TNPO2_uc002muq.3_Missense_Mutation_p.N141T|TNPO2_uc002muo.3_Missense_Mutation_p.N141T|TNPO2_uc002mur.3_Missense_Mutation_p.N141T	NM_013433	NP_038461	O14787	TNPO2_HUMAN	Homo sapiens transportin 2 (TNPO2), transcript variant 2, mRNA.	141					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTCACAAGTGTTGTAATCCTC	0.597000												
PROZ	8858	broad.mit.edu	37	13	113826043	113826043	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:113826043C>T	uc001vta.1	+	7	834	c.827C>T	c.(826-828)gCg>gTg	p.A276V	PROZ_uc010agr.1_Missense_Mutation_p.A298V	NM_003891	NP_003882	P22891	PROZ_HUMAN	Homo sapiens protein Z, vitamin K-dependent plasma glycoprotein (PROZ), transcript variant 2, mRNA.	276	Peptidase S1.				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|extracellular region	calcium ion binding|serine-type endopeptidase activity			NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	all cancers(43;0.104)		Menadione(DB00170)	TGCCCAGGTGCGGGGCTCCCC	0.642000												
TET1	80312	broad.mit.edu	37	10	70446141	70446141	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:70446141G>A	uc001jok.4	+	10	5586	c.5081G>A	c.(5080-5082)cGc>cAc	p.R1694H		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA.	1694					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GAAGATAACCGCTCTTTGGGT	0.438000												
AMPD3	272	broad.mit.edu	37	11	10527345	10527345	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:10527345G>A	uc001min.1	+	14	2590	c.2245G>A	c.(2245-2247)Gca>Aca	p.A749T	AMPD3_uc010rbz.1_Missense_Mutation_p.A581T|AMPD3_uc009yfw.1_Non-coding_Transcript|AMPD3_uc001mio.1_Missense_Mutation_p.A740T|AMPD3_uc009yfz.2_Non-coding_Transcript|AMPD3_uc001mip.1_Missense_Mutation_p.A747T|AMPD3_uc009yfy.2_Missense_Mutation_p.A740T	NM_000480	NP_001165902	Q01432	AMPD3_HUMAN	Homo sapiens adenosine monophosphate deaminase 3 (AMPD3), transcript variant 1, mRNA.	740					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		GATCCGGATGGCATTCCGATA	0.428000												
ROMO1	140823	broad.mit.edu	37	20	34288780	34288780	+	Silent	SNP	C	C	T	rs149152641		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:34288780C>T	uc002xdy.3	+	2	339	c.192C>T	c.(190-192)ggC>ggT	p.G64G	NFS1_uc002xdt.2_5'Flank|NFS1_uc010zvl.2_5'Flank|NFS1_uc010zvk.2_5'Flank|NFS1_uc002xdw.2_5'Flank|NFS1_uc002xdx.3_5'Flank|ROMO1_uc010gfm.3_Silent_p.G64G	NM_080748	NP_542786	P60602	ROMO1_HUMAN	Homo sapiens reactive oxygen species modulator 1 (ROMO1), nuclear gene encoding mitochondrial protein, mRNA.	64					cellular response to reactive oxygen species|positive regulation of cell proliferation|positive regulation of reactive oxygen species metabolic process|replicative cell aging	integral to membrane|mitochondrial membrane				cervix(1)	1						TGCAGAGTGGCGGCACCTTTG	0.522000												
ZNF718	255403	broad.mit.edu	37	4	86474	86474	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:86474C>A	uc003fzv.1	+	5	1182	c.1026C>A	c.(1024-1026)agC>agA	p.S342R	ZNF718_uc003fzt.4_Intron|ZNF718_uc003fzu.1_Intron|ZNF718_uc011bus.1_Missense_Mutation_p.S128R|ZNF718_uc011but.1_Missense_Mutation_p.S128R	NM_182524	NP_872330	Q3SXZ3	ZN718_HUMAN	Homo sapiens zinc finger protein 595 (ZNF595), mRNA.	359					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		TACACAGGAGCATTCATTCTG	0.343000												
RFX7	64864	broad.mit.edu	37	15	56386815	56386815	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:56386815G>A	uc010bfn.3	-	8	3111	c.3111C>T	c.(3109-3111)gaC>gaT	p.D1037D	RFX7_uc010ugk.1_Non-coding_Transcript|RFX7_uc002adn.1_Silent_p.D851D	NM_022841	NP_073752	Q2KHR2	RFX7_HUMAN	Homo sapiens regulatory factor X, 7 (RFX7), mRNA.	940					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CAATGCTGGCGTCATGATATG	0.483000												
FAM19A5	25817	broad.mit.edu	37	22	49103572	49103572	+	Silent	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:49103572T>C	uc003bim.4	+	2	423	c.306T>C	c.(304-306)tgT>tgC	p.C102C	FAM19A5_uc003bio.4_Silent_p.C95C	NM_001082967	NP_001076436	Q7Z5A7	F19A5_HUMAN	Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A5 (FAM19A5), transcript variant 1, mRNA.	102						extracellular region|integral to membrane				large_intestine(1)|lung(6)	7		all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119)		TGCTTCCGTGTCTGGAGGGGG	0.572000												
CDH20	28316	broad.mit.edu	37	18	59195390	59195390	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:59195390C>T	uc010dps.1	+	5	1360	c.1208C>T	c.(1207-1209)gCg>gTg	p.A403V	CDH20_uc002lif.2_Missense_Mutation_p.A397V	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	Homo sapiens cadherin 20, type 2 (CDH20), mRNA.	403	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				GAGGATGTGGCGATTGGAACA	0.473000												
PRICKLE1	144165	broad.mit.edu	37	12	42858777	42858777	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:42858777C>T	uc010skv.2	-	6	1346	c.1059G>A	c.(1057-1059)tcG>tcA	p.S353S	PRICKLE1_uc001rnl.3_Silent_p.S353S|PRICKLE1_uc010skw.2_Silent_p.S353S|PRICKLE1_uc001rnm.3_Silent_p.S353S	NM_001144881	NP_694571	Q96MT3	PRIC1_HUMAN	Homo sapiens prickle homolog 1 (Drosophila) (PRICKLE1), transcript variant 2, mRNA.	353					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		TCAGAGCAGGCGATAAGAGGA	0.498000												
SMYD4	114826	broad.mit.edu	37	17	1703996	1703996	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:1703996G>A	uc002ftm.4	-	4	860	c.692C>T	c.(691-693)gCc>gTc	p.A231V	SMYD4_uc002ftn.1_Missense_Mutation_p.A86V	NM_052928	NP_443160	Q8IYR2	SMYD4_HUMAN	Homo sapiens SET and MYND domain containing 4 (SMYD4), mRNA.	231							zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						GGATGATGAGGCATTGGAAAG	0.502000												
PREP	5550	broad.mit.edu	37	6	105736746	105736746	+	Silent	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:105736746A>G	uc003prc.3	-	10	1574	c.1341T>C	c.(1339-1341)ggT>ggC	p.G447G		NM_002726	NP_002717	P48147	PPCE_HUMAN	Homo sapiens prolyl endopeptidase (PREP), mRNA.	447					proteolysis		serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	GAATCTTCGTACCATCCTTGC	0.353000												
C22orf43	51233	broad.mit.edu	37	22	23974150	23974150	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:23974150C>T	uc002zxf.3	-	0	359	c.61G>A	c.(61-63)Gca>Aca	p.A21T		NM_016449	NP_057533	Q6PGQ1	CV043_HUMAN	Homo sapiens chromosome 22 open reading frame 43 (C22orf43), mRNA.	21										endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)	11						TAACAGGGTGCGTCCTTCCCC	0.537000												
ACACB	32	broad.mit.edu	37	12	109639432	109639432	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:109639432C>T	uc001tob.3	+	18	2958	c.2839C>T	c.(2839-2841)Cgt>Tgt	p.R947C	ACACB_uc001toc.3_Missense_Mutation_p.R947C	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	947	Biotinyl-binding.				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	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|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)	GTACATCAAGCGTCCAGGTGC	0.552000												
RSPH10B	222967	broad.mit.edu	37	7	6836263	6836263	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:6836263C>T	uc003sqw.1	+	19	2569	c.2298C>T	c.(2296-2298)taC>taT	p.Y766Y	RSPH10B_uc010ktk.1_Silent_p.Y766Y|RSPH10B_uc011jxc.2_Missense_Mutation_p.T388M|RSPH10B_uc010ktl.2_Non-coding_Transcript	NM_173565	NP_001093167	B2RC85	R10B2_HUMAN	Homo sapiens radial spoke head 10 homolog B (Chlamydomonas) (RSPH10B), mRNA.	766								p.M765T(1)		breast(1)|kidney(1)|lung(4)|ovary(1)|skin(4)	11		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0974)		ATAATACGTACGTCTTCTTTG	0.438000												
BRCA2	675	broad.mit.edu	37	13	32930634	32930634	+	Missense_Mutation	SNP	G	G	A	rs56070345		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:32930634G>A	uc001uub.1	+	14	7732	c.7505G>A	c.(7504-7506)cGc>cAc	p.R2502H		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	2502	Interaction with FANCD2.		R -> C (in BC; unknown pathological significance).|R -> H (in ovarian cancer; could be a polymorphism).		cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CAAAGGCAACGCGTCTTTCCA	0.408000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)		
RRH	10692	broad.mit.edu	37	4	110756589	110756589	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:110756589A>G	uc003hzv.3	+	2	399	c.365A>G	c.(364-366)gAc>gGc	p.D122G		NM_006583	NP_006574	O14718	OPSX_HUMAN	Homo sapiens retinal pigment epithelium-derived rhodopsin homolog (RRH), mRNA.	122					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	12		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00109)		GTGGCTGTGGACCGATACCTG	0.388000												
PKHD1	5314	broad.mit.edu	37	6	51484273	51484273	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:51484273T>C	uc003pah.1	-	66	12107	c.11831A>G	c.(11830-11832)cAc>cGc	p.H3944R		NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	3944					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CATCAACTGGTGGGGGCACTG	0.488000												
DBH	1621	broad.mit.edu	37	9	136508675	136508675	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:136508675C>T	uc004cel.3	+	3	894	c.885C>T	c.(883-885)tgC>tgT	p.C295C		NM_000787	NP_000778	P09172	DOPO_HUMAN	Homo sapiens dopamine beta-hydroxylase (dopamine beta-monooxygenase) (DBH), mRNA.	295					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	L-ascorbic acid binding|dopamine beta-monooxygenase activity			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	TCAACTACTGCCGCCACGTGC	0.677000												
CD34	947	broad.mit.edu	37	1	208061099	208061099	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:208061099G>A	uc001hgw.1	-	7	1400	c.1142C>T	c.(1141-1143)gCt>gTt	p.A381V	CD34_uc001hgv.1_Missense_Mutation_p.A223V|CD34_uc001hgx.1_3'UTR|CD34_uc010psj.1_Missense_Mutation_p.A246V	NM_001025109	NP_001020280	P28906	CD34_HUMAN	Homo sapiens CD34 molecule (CD34), transcript variant 1, mRNA.	381					cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding			kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						TTCGGTATCAGCCACCACGTG	0.617000												
CP	1356	broad.mit.edu	37	3	148904520	148904520	+	Splice_Site	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:148904520C>T	uc003ewy.4	-	11	2118	c.1865_splice	c.e11-1	p.S622_splice	CP_uc011bnr.2_Intron|CP_uc003ewx.4_Splice_Site_p.S403_splice|CP_uc003ewz.3_Splice_Site_p.S622_splice|CP_uc010hvf.1_Intron	NM_000096	NP_000087	P00450	CERU_HUMAN	Homo sapiens ceruloplasmin (ferroxidase) (CP), mRNA.	622	F5/8 type A 2.|Plastocyanin-like 4.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	CCATTCATGGCTGTAAAAGTT	0.408000												
ITGA9	3680	broad.mit.edu	37	3	37559045	37559045	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:37559045G>A	uc003chd.3	+	9	1139	c.1086G>A	c.(1084-1086)gcG>gcA	p.A362A	ITGA9_uc003chc.3_Silent_p.A362A	NM_002207	NP_002198	Q13797	ITA9_HUMAN	Homo sapiens integrin, alpha 9 (ITGA9), mRNA.	362					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		CCTACAATGCGCACTTTGGAG	0.557000												
OR4K5	79317	broad.mit.edu	37	14	20388997	20388997	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:20388997A>G	uc010tkw.2	+	0	232	c.232A>G	c.(232-234)Acc>Gcc	p.T78A		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTCTTTTGCTACCCCTAAAAT	0.428000												
NXPH4	11247	broad.mit.edu	37	12	57619402	57619402	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:57619402G>A	uc010srf.2	+	1	974	c.799G>A	c.(799-801)Gcc>Acc	p.A267T	NXPH4_uc009zpj.3_Missense_Mutation_p.A73T	NM_007224	NP_009155	O95158	NXPH4_HUMAN	Homo sapiens neurexophilin 4 (NXPH4), mRNA.	267	V (Cys-rich).				neuropeptide signaling pathway	extracellular region				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	10						GAGCCAGGCCGCCTGGCTCTG	0.567000												
ANO8	57719	broad.mit.edu	37	19	17444267	17444267	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:17444267C>T	uc002ngf.2	-	2	473	c.314G>A	c.(313-315)cGt>cAt	p.R105H	ANO8_uc010eap.2_Non-coding_Transcript|GTPBP3_uc010xpo.2_5'Flank	NM_020959	NP_066010	Q9HCE9	ANO8_HUMAN	Homo sapiens anoctamin 8 (ANO8), mRNA.	105						chloride channel complex	chloride channel activity			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						GGCGTAGGCACGCGTGTGGCG	0.647000												
POLR2K	5440	broad.mit.edu	37	8	101165527	101165527	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:101165527G>A	uc003yjf.3	+	3	268	c.160G>A	c.(160-162)Gtt>Att	p.V54I		NM_005034	NP_005025	P53803	RPAB4_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide K, 7.0kDa (POLR2K), mRNA.	54					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|zinc ion binding			large_intestine(1)|lung(1)|prostate(1)	3	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.59e-09)|all cancers(13;1.74e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			TACAGTGGTCGTTTTTGATGC	0.353000												
PRC1	9055	broad.mit.edu	37	15	91517404	91517404	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:91517404G>A	uc002bqm.3	-	10	1580	c.1423C>T	c.(1423-1425)Cga>Tga	p.R475*	PRC1_uc002bqn.3_Nonsense_Mutation_p.R475*|PRC1_uc002bqo.3_Nonsense_Mutation_p.R475*|PRC1_uc010uqs.2_Nonsense_Mutation_p.R434*	NM_003981	NP_003972	O43663	PRC1_HUMAN	Homo sapiens protein regulator of cytokinesis 1 (PRC1), transcript variant 1, mRNA.	475	Unstructured, Arg/Lys rich.				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					GCCAGTCCTCGCCGCTTGCTA	0.512000												
COL1A1	1277	broad.mit.edu	37	17	48274561	48274561	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:48274561G>A	uc002iqm.3	-	9	856	c.730C>T	c.(730-732)Cgt>Tgt	p.R244C		NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	244	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	p.R244H(2)	COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	GGAGGCCCACGCTCACCAGGA	0.607000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta					
PASK	23178	broad.mit.edu	37	2	242077410	242077410	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:242077410G>A	uc002wao.2	-	5	967	c.834C>T	c.(832-834)atC>atT	p.I278I	PASK_uc010zol.2_Silent_p.I92I|PASK_uc010zom.2_Intron|PASK_uc010fzl.2_Silent_p.I278I|PASK_uc010zon.2_Silent_p.I59I|PASK_uc021vzf.1_Silent_p.I278I|PASK_uc002waq.3_Silent_p.I278I	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	Homo sapiens PAS domain containing serine/threonine kinase (PASK), transcript variant 2, mRNA.	278					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GCACAGAAGGGATCAGGTCTG	0.577000												
MAB21L2	10586	broad.mit.edu	37	4	151504900	151504900	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:151504900G>A	uc003ilw.3	+	0	1824	c.719G>A	c.(718-720)cGc>cAc	p.R240H	LRBA_uc003ils.4_5'Flank|LRBA_uc003ilt.4_Intron|LRBA_uc003ilu.4_Intron|LRBA_uc010ipj.3_Intron	NM_006439	NP_006430	Q9Y586	MB212_HUMAN	Homo sapiens mab-21-like 2 (C. elegans) (MAB21L2), mRNA.	240					nervous system development	nucleus				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		GCGGAGAACCGCCTGCTGATG	0.637000												
UCHL1	7345	broad.mit.edu	37	4	41266152	41266152	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:41266152G>A	uc003gvo.3	+	7	655	c.559G>A	c.(559-561)Gcc>Acc	p.A187T	UCHL1_uc003gvp.3_Missense_Mutation_p.A106T	NM_004181	NP_004172	P09936	UCHL1_HUMAN	Homo sapiens ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase) (UCHL1), mRNA.	187					cell death|negative regulation of MAP kinase activity|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus|plasma membrane	alpha-2A adrenergic receptor binding|cysteine-type endopeptidase activity|ligase activity|omega peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity			central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(2)	8						GAACCATGGCGCCAGTTCAGA	0.443000												
UBN2	254048	broad.mit.edu	37	7	138978728	138978728	+	Splice_Site	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:138978728G>A	uc011kqr.2	+	17	3994	c.3994_splice	c.e17+1	p.D1332_splice		NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN	Homo sapiens ubinuclein 2 (UBN2), mRNA.	1332										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						GCATTTCACGGTGAGAACGCC	0.433000												
KDM3A	55818	broad.mit.edu	37	2	86677062	86677062	+	Nonsense_Mutation	SNP	C	C	T	rs150111816		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:86677062C>T	uc002sri.4	+	2	646	c.319C>T	c.(319-321)Cga>Tga	p.R107*	KDM3A_uc010ytj.2_Nonsense_Mutation_p.R107*|KDM3A_uc010ytk.2_Intron	NM_018433	NP_060903	Q9Y4C1	KDM3A_HUMAN	Homo sapiens lysine (K)-specific demethylase 3A (KDM3A), transcript variant 1, mRNA.	107					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						AATTTCTGAACGAATTGTACA	0.373000												
HCN1	348980	broad.mit.edu	37	5	45267276	45267276	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:45267276C>T	uc003jok.3	-	6	1723	c.1698G>A	c.(1696-1698)gtG>gtA	p.V566V		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	566						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.V566L(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TGAAATTGTCCACGGAAAGTG	0.433000												
PRPF39	55015	broad.mit.edu	37	14	45579902	45579902	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:45579902C>T	uc001wvz.4	+	9	1624	c.1454C>T	c.(1453-1455)gCc>gTc	p.A485V	PRPF39_uc001wvy.4_Missense_Mutation_p.A364V|PRPF39_uc010and.3_Missense_Mutation_p.A275V|PRPF39_uc001wwa.1_Missense_Mutation_p.A89V|SNORD127_uc010ane.3_5'Flank	NM_017922	NP_060392	Q86UA1	PRP39_HUMAN	Homo sapiens PRP39 pre-mRNA processing factor 39 homolog (S. cerevisiae) (PRPF39), mRNA.	485					RNA splicing|mRNA processing	nucleus	binding	p.L483_K484>*(1)		breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						ATTAAGAATGCCAAATCAAAT	0.378000												
PCDHGC5	56097	broad.mit.edu	37	5	140789114	140789114	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:140789114G>A	uc003lkj.2	+	0	1345	c.1345G>A	c.(1345-1347)Gcc>Acc	p.A449T	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lki.1_Missense_Mutation_p.A449T	NM_018926	NP_061749	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 6 (PCDHGB6), transcript variant 1, mRNA.	451	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACGACAACGCCCCAGTTTT	0.567000												
RNF40	9810	broad.mit.edu	37	16	30780692	30780692	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:30780692C>T	uc002dzq.3	+	15	3253	c.2433C>T	c.(2431-2433)ggC>ggT	p.G811G	RNF40_uc010caa.3_Silent_p.G811G|RNF40_uc010cab.3_Silent_p.G711G|RNF40_uc010vfa.2_Silent_p.G143G|RNF40_uc010vfb.2_Silent_p.G503G|RNF40_uc002dzr.3_Silent_p.G811G|RNF40_uc010vfc.1_Silent_p.G143G	NM_014771	NP_055586	O75150	BRE1B_HUMAN	Homo sapiens ring finger protein 40 (RNF40), transcript variant 1, mRNA.	811					histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			ATGAGTTGGGCGAGCAGGTCC	0.582000												
SPAG1	6674	broad.mit.edu	37	8	101232554	101232554	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:101232554C>T	uc003yjh.2	+	12	1669	c.1583C>T	c.(1582-1584)gCg>gTg	p.A528V	SPAG1_uc003yji.2_Missense_Mutation_p.A528V	NM_172218	NP_757367	Q07617	SPAG1_HUMAN	Homo sapiens sperm associated antigen 1 (SPAG1), transcript variant 2, mRNA.	528					single fertilization	cytoplasm	GTP binding|hydrolase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		CTGAGGCGGGCGATGGCCTAT	0.403000												
PIGZ	80235	broad.mit.edu	37	3	196674848	196674848	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:196674848G>A	uc003fxh.3	-	2	1067	c.920C>T	c.(919-921)gCg>gTg	p.A307V		NM_025163	NP_079439	Q86VD9	PIGZ_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class Z (PIGZ), mRNA.	307					GPI anchor biosynthetic process	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		GCCATGTCTCGCCAGGTTTTG	0.612000												
NRXN1	9378	broad.mit.edu	37	2	50779924	50779924	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:50779924G>A	uc021vhh.1	-	7	2481	c.1560C>T	c.(1558-1560)agC>agT	p.S520S	NRXN1_uc002rxb.4_Silent_p.S192S|NRXN1_uc021vhg.1_Silent_p.S560S|NRXN1_uc021vhi.1_Silent_p.S556S|NRXN1_uc021vhj.1_Silent_p.S516S|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	520	Laminin G-like 3.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCTTGCCATGGCTAAATAAGA	0.443000												
GPR85	54329	broad.mit.edu	37	7	112724294	112724294	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:112724294G>A	uc010ljv.2	-	1	1000	c.483C>T	c.(481-483)ggC>ggT	p.G161G	GPR85_uc003vgp.1_Silent_p.G161G|GPR85_uc003vgq.2_Silent_p.G161G|GPR85_uc010ljw.1_Silent_p.G161G|GPR85_uc022akd.1_Silent_p.G161G	NM_001146266	NP_061843	P60893	GPR85_HUMAN	Homo sapiens G protein-coupled receptor 85 (GPR85), transcript variant 3, mRNA.	161						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						ATGAGTAAGTGCCCACGTCTA	0.488000												
GNAS	2778	broad.mit.edu	37	20	57415849	57415849	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:57415849T>A	uc021wfl.1	+	0	1055	c.688T>A	c.(688-690)Tcc>Acc	p.S230T	GNAS-AS1_uc002xzs.2_Intron|GNAS_uc002xzt.3_5'UTR|GNAS_uc021wfm.1_Missense_Mutation_p.S230T|GNAS_uc010gjq.3_5'Flank	NM_016592	NP_057676	P63092	GNAS2_HUMAN	Homo sapiens GNAS complex locus (GNAS), transcript variant 4, mRNA.	325				E -> Q (in Ref. 9; AAA52583).	G-protein coupled receptor protein signaling pathway|activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	GTP binding|GTPase activity|adenylate cyclase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CCGTGACGCGTCCCCGGAGTC	0.592000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)		
SLC5A6	8884	broad.mit.edu	37	2	27428236	27428236	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:27428236C>T	uc010eyv.1	-	7	1038	c.716G>A	c.(715-717)gGc>gAc	p.G239D	SLC5A6_uc002rjd.3_Missense_Mutation_p.G239D	NM_021095	NP_066918	Q9Y289	SC5A6_HUMAN	Homo sapiens solute carrier family 5 (sodium-dependent vitamin transporter), member 6 (SLC5A6), transcript variant 1, mRNA.	239					biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)	AGAGATGCGGCCGTGCTGGGA	0.607000												
TRHDE	29953	broad.mit.edu	37	12	72863686	72863686	+	Silent	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:72863686T>C	uc001sxa.3	+	3	1359	c.1329T>C	c.(1327-1329)tgT>tgC	p.C443C		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	443					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						ATGAGATATGTCACCAGGTAT	0.338000												
ARPP21	10777	broad.mit.edu	37	7	38279756	38279756	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:38279756G>A	uc022aby.1	-	5	708	c.301C>T	c.(301-303)Ctg>Ttg	p.L101L	ARPP21_uc003tfu.3_Silent_p.L85L|ARPP21_uc003tfv.3_Silent_p.L85L	NM_001003806	NP_001003806	Q9UBL0	ARP21_HUMAN	Homo sapiens TCR gamma alternate reading frame protein (TARP), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	252						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						GTGAGCTGCAGCAGTAGTGTA	0.398000												
RYR3	6263	broad.mit.edu	37	15	34130165	34130165	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:34130165C>T	uc001zhi.3	+	88	12054	c.11984C>T	c.(11983-11985)gCt>gTt	p.A3995V	RYR3_uc010bar.3_Missense_Mutation_p.A3990V	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	3995					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTTAATGTGGCTGTGTTATTG	0.448000												
MARCO	8685	broad.mit.edu	37	2	119752090	119752090	+	Silent	SNP	C	C	T	rs150890503	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:119752090C>T	uc002tln.1	+	16	1689	c.1557C>T	c.(1555-1557)agC>agT	p.S519S	MARCO_uc010yyf.1_Silent_p.S441S	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	519	SRCR.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						TGGAGTGCAGCGTCTGACCCG	0.602000												
RNASEL	6041	broad.mit.edu	37	1	182550411	182550411	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:182550411C>T	uc009wxz.2	-	4	2111	c.1854G>A	c.(1852-1854)ctG>ctA	p.L618L	RNASEL_uc001gpk.3_Silent_p.L618L	NM_021133	NP_066956	Q05823	RN5A_HUMAN	Homo sapiens ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) (RNASEL), mRNA.	618	KEN.				mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|RNA binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						GCCCAGGTTGCAGTAGTCTGA	0.423000												
EPB41L4B	54566	broad.mit.edu	37	9	112042125	112042125	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:112042125A>C	uc004bdz.1	-	1	678	c.383T>G	c.(382-384)cTc>cGc	p.L128R	EPB41L4B_uc004bea.3_Missense_Mutation_p.L128R	NM_019114	NP_061987	Q9H329	E41LB_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4B (EPB41L4B), transcript variant 2, mRNA.	128	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GAGGAACTGGAGGCCAAAGTA	0.443000												
ZNF133	7692	broad.mit.edu	37	20	18296267	18296267	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:18296267G>A	uc010zrv.1	+	4	984	c.781G>A	c.(781-783)Gcc>Acc	p.A261T	ZNF133_uc010gcq.2_Missense_Mutation_p.A258T|ZNF133_uc010zrw.1_Missense_Mutation_p.A195T|ZNF133_uc010gcr.2_Missense_Mutation_p.A258T|ZNF133_uc010zrx.1_Missense_Mutation_p.A163T|ZNF133_uc002wql.4_Missense_Mutation_p.A257T|ZNF133_uc010gcs.3_Missense_Mutation_p.A257T|ZNF133_uc010zry.2_Missense_Mutation_p.A163T|ZNF133_uc002wqm.2_Missense_Mutation_p.A258T	NM_003434	NP_003425	P52736	ZN133_HUMAN	Homo sapiens zinc finger protein 133 (ZNF133), transcript variant 1, mRNA.	258						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q260R(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						GAAGAGCCTCGCCAGACACCA	0.547000												
ZFAND6	54469	broad.mit.edu	37	15	80423565	80423565	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:80423565C>T	uc002bfe.2	+	5	830	c.408C>T	c.(406-408)agC>agT	p.S136S	ZFAND6_uc021srv.1_Intron|ZFAND6_uc021srw.1_Silent_p.S136S|ZFAND6_uc002bfg.2_Silent_p.S124S|ZFAND6_uc002bff.2_Silent_p.S136S|ZFAND6_uc021srx.1_Silent_p.S136S|ZFAND6_uc021sry.1_Silent_p.S136S|ZFAND6_uc002bfh.2_Silent_p.S136S|ZFAND6_uc002bfi.2_Silent_p.S136S	NM_019006	NP_061879	Q6FIF0	ZFAN6_HUMAN	Homo sapiens zinc finger, AN1-type domain 6 (ZFAND6), transcript variant 1, mRNA.	136							DNA binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						AAGAGCAAAGCAAGTCTCTTG	0.358000												
RYR2	6262	broad.mit.edu	37	1	237774245	237774245	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:237774245G>A	uc001hyl.1	+	35	4987	c.4867G>A	c.(4867-4869)Gat>Aat	p.D1623N		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	1623	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.P1622P(1)|p.P1622N(1)|p.P1622T(1)|p.P1622H(1)		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)			GCAGTGTTTGGATCCTCTGCA	0.507000												
ARHGEF10	9639	broad.mit.edu	37	8	1817418	1817418	+	Splice_Site	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:1817418T>C	uc003wpr.3	+	7	857	c.679_splice	c.e7+2	p.D227_splice	ARHGEF10_uc003wpq.1_Splice_Site_p.D252_splice|ARHGEF10_uc003wps.3_Splice_Site_p.D228_splice|ARHGEF10_uc003wpt.3_Splice_Site_p.D142_splice|ARHGEF10_uc010lrd.2_Silent_p.G142G|ARHGEF10_uc003wpu.3_Silent_p.G141G|ARHGEF10_uc022aqp.1_5'Flank	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10 (ARHGEF10), mRNA.	252					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	Rho guanyl-nucleotide exchange factor activity|kinesin binding			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		CTGAACCAGGTTTGATTTTGT	0.443000												
DHCR7	1717	broad.mit.edu	37	11	71150017	71150017	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:71150017C>T	uc001oqk.3	-	6	989	c.739G>A	c.(739-741)Gcc>Acc	p.A247T	DHCR7_uc001oql.3_Missense_Mutation_p.A247T	NM_001163817	NP_001351	Q9UBM7	DHCR7_HUMAN	Homo sapiens 7-dehydrocholesterol reductase (DHCR7), transcript variant 2, mRNA.	247			A -> V (in SLOS).		cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding	p.A247P(3)		endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19					NADH(DB00157)	AGGGTCCAGGCGACGATCCCG	0.552000									Smith-Lemli-Opitz syndrome			
GIGYF2	26058	broad.mit.edu	37	2	233671276	233671276	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:233671276C>T	uc002vtj.4	+	16	2045	c.1778C>T	c.(1777-1779)gCg>gTg	p.A593V	GIGYF2_uc010zmj.1_Missense_Mutation_p.A572V|GIGYF2_uc002vtg.2_Missense_Mutation_p.A566V|GIGYF2_uc002vti.4_Missense_Mutation_p.A572V|GIGYF2_uc002vtk.4_Missense_Mutation_p.A572V|GIGYF2_uc002vth.4_Missense_Mutation_p.A566V|GIGYF2_uc010zmk.2_Non-coding_Transcript|GIGYF2_uc010zml.1_Missense_Mutation_p.A403V	NM_001103147	NP_001096617	Q6Y7W6	PERQ2_HUMAN	Homo sapiens GRB10 interacting GYF protein 2 (GIGYF2), transcript variant 1, mRNA.	572					cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GTGAAGAGAGCGTGTGATGAA	0.453000												
CDK5RAP2	55755	broad.mit.edu	37	9	123220813	123220813	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:123220813C>T	uc004bkf.3	-	19	2471	c.2290G>A	c.(2290-2292)Gca>Aca	p.A764T	CDK5RAP2_uc004bke.3_Missense_Mutation_p.A49T|CDK5RAP2_uc004bkg.3_Missense_Mutation_p.A764T|CDK5RAP2_uc011lxw.2_Missense_Mutation_p.A29T|CDK5RAP2_uc011lxx.2_Non-coding_Transcript|CDK5RAP2_uc011lxy.2_Non-coding_Transcript|CDK5RAP2_uc011lxz.2_Missense_Mutation_p.A29T|CDK5RAP2_uc011lya.2_Missense_Mutation_p.A29T|CDK5RAP2_uc004bkh.1_Intron|CDK5RAP2_uc004bki.3_Missense_Mutation_p.A531T	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 2 (CDK5RAP2), transcript variant 1, mRNA.	764					G2/M transition of mitotic cell cycle|brain development|centrosome organization|chromosome segregation|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	Golgi apparatus|cytosol|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding	p.H763H(1)		breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CAGCCAGGTGCGTGGGCCCCA	0.458000												
ZNF611	81856	broad.mit.edu	37	19	53208665	53208665	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:53208665G>A	uc002pzz.3	-	6	1960	c.1643C>T	c.(1642-1644)gCg>gTg	p.A548V	ZNF611_uc010eqc.3_Missense_Mutation_p.A478V|ZNF611_uc010ydo.2_Missense_Mutation_p.A478V|ZNF611_uc010ydp.2_Missense_Mutation_p.A548V|ZNF611_uc010ydq.2_Missense_Mutation_p.A548V|ZNF611_uc010ydr.2_Missense_Mutation_p.A479V|ZNF611_uc002qaa.4_Missense_Mutation_p.A478V|ZNF611_uc021uyy.1_Missense_Mutation_p.A479V	NM_030972	NP_001154973	Q8N823	ZN611_HUMAN	Homo sapiens zinc finger protein 611 (ZNF611), transcript variant 1, mRNA.	548					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		GGAATGACACGCAAAAGCCTT	0.398000												
COL9A1	1297	broad.mit.edu	37	6	71003937	71003937	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:71003937C>T	uc003pfg.4	-	4	788	c.629G>A	c.(628-630)gGc>gAc	p.G210D		NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	210	Nonhelical region (NC4).|TSP N-terminal.				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						GTCAATTGGGCCTCTTGGCTT	0.418000												
ZNF711	7552	broad.mit.edu	37	X	84523321	84523321	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:84523321G>A	uc004eeq.3	+	7	1962	c.1076G>A	c.(1075-1077)cGa>cAa	p.R359Q	ZNF711_uc004eep.3_Missense_Mutation_p.R313Q|ZNF711_uc004eeo.3_Missense_Mutation_p.R313Q|ZNF711_uc011mqy.1_5'UTR	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN	Homo sapiens zinc finger protein 711 (ZNF711), mRNA.	313					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	p.N359N(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						AGAGTTTCCCGAAGGTATGAA	0.303000												
PRUNE2	158471	broad.mit.edu	37	9	79325763	79325763	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:79325763G>A	uc010mpk.3	-	7	1551	c.1427C>T	c.(1426-1428)gCg>gTg	p.A476V	PRUNE2_uc022bih.1_Missense_Mutation_p.A298V	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	476					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CTCCGCCACCGCCCCTTCAGG	0.592000												
VPS8	23355	broad.mit.edu	37	3	184714256	184714256	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:184714256G>A	uc021xik.1	+	42	3891	c.3803G>A	c.(3802-3804)cGc>cAc	p.R1268H	VPS8_uc003fpb.1_Missense_Mutation_p.R1266H|VPS8_uc010hyd.1_Missense_Mutation_p.R1176H|VPS8_uc010hye.1_Missense_Mutation_p.R695H	NM_001009921	NP_001009921	Q8N3P4	VPS8_HUMAN	Homo sapiens vacuolar protein sorting 8 homolog (S. cerevisiae) (VPS8), transcript variant 1, mRNA.	1268							zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			TACAAGAGACGCCAAGAAATG	0.418000												
KIAA1109	84162	broad.mit.edu	37	4	123140711	123140711	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:123140711C>T	uc003ieh.3	+	18	2509	c.2464C>T	c.(2464-2466)Cgt>Tgt	p.R822C	KIAA1109_uc003iei.1_Missense_Mutation_p.R576C|KIAA1109_uc010ins.1_Missense_Mutation_p.R166C|KIAA1109_uc003iej.1_Missense_Mutation_p.R207C	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	822					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AGTTCATGGGCGTCTTCCTGT	0.373000												
KIAA0753	9851	broad.mit.edu	37	17	6511780	6511780	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:6511780C>T	uc002gde.4	-	9	2076	c.1717G>A	c.(1717-1719)Gca>Aca	p.A573T	KIAA0753_uc010vtd.2_Missense_Mutation_p.A29T|KIAA0753_uc010clo.3_Missense_Mutation_p.A274T|KIAA0753_uc010vte.2_Missense_Mutation_p.A274T	NM_014804	NP_055619	Q2KHM9	K0753_HUMAN	Homo sapiens KIAA0753 (KIAA0753), mRNA.	573						centrosome		p.A572D(1)		endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		TTTAGCCATGCAGCACTGAAA	0.458000												
NAA15	80155	broad.mit.edu	37	4	140264015	140264015	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:140264015G>A	uc003ihu.1	+	4	694	c.438G>A	c.(436-438)gcG>gcA	p.A146A		NM_057175	NP_476516	Q9BXJ9	NAA15_HUMAN	Homo sapiens N(alpha)-acetyltransferase 15, NatA auxiliary subunit (NAA15), mRNA.	146					N-terminal protein amino acid acetylation|angiogenesis|cell differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						TTCGACCTGCGCAGAGAGCAT	0.348000												
GPATCH8	23131	broad.mit.edu	37	17	42476588	42476588	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:42476588G>A	uc002igw.2	-	7	3076	c.2857C>T	c.(2857-2859)Cgc>Tgc	p.R953C	GPATCH8_uc002igv.2_Missense_Mutation_p.R875C|GPATCH8_uc010wiz.2_Missense_Mutation_p.R875C	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	Homo sapiens G patch domain containing 8 (GPATCH8), transcript variant 1, mRNA.	953	Ser-rich.					intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GATCTTGAGCGCTCTCTGGTA	0.567000												
RIBC2	26150	broad.mit.edu	37	22	45813802	45813802	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:45813802G>A	uc011aqs.2	+	3	723	c.514G>A	c.(514-516)Gcc>Acc	p.A172T		NM_015653	NP_056468	Q9H4K1	RIBC2_HUMAN	Homo sapiens RIB43A domain with coiled-coils 2 (RIBC2), mRNA.	105										NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|skin(2)|urinary_tract(1)	10		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		ATGGAAGAACGCCCGTGCTGA	0.413000												
TRPV5	56302	broad.mit.edu	37	7	142609695	142609695	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:142609695T>G	uc003wby.1	-	12	2005	c.1741A>C	c.(1741-1743)Acc>Ccc	p.T581P		NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	581					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CTCCAGTGGGTGTCGCCCATC	0.532000												
SIM1	6492	broad.mit.edu	37	6	100897563	100897563	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:100897563C>T	uc003pqj.4	-	3	828	c.361G>A	c.(361-363)Gga>Aga	p.G121R	SIM1_uc021zdg.1_Missense_Mutation_p.G121R|SIM1_uc010kcu.3_Missense_Mutation_p.G121R	NM_005068	NP_005059	P81133	SIM1_HUMAN	Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.	121	PAS 1.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		ATGCTGTTTCCGGTCAGCTCT	0.572000												
ZNF704	619279	broad.mit.edu	37	8	81577073	81577073	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:81577073C>T	uc003yby.2	-	5	1136	c.904G>A	c.(904-906)Gtg>Atg	p.V302M		NM_001033723	NP_001028895	Q6ZNC4	ZN704_HUMAN	Homo sapiens zinc finger protein 704 (ZNF704), mRNA.	302						intracellular	zinc ion binding			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			TCAGTGTGCACGAGGTAGAGG	0.537000												
RAD54L2	23132	broad.mit.edu	37	3	51673538	51673538	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:51673538C>T	uc011bdt.2	+	11	2089	c.1964C>T	c.(1963-1965)gCc>gTc	p.A655V	RAD54L2_uc003dbh.3_Missense_Mutation_p.A246V|RAD54L2_uc011bdu.2_Missense_Mutation_p.A349V|RAD54L2_uc003dbj.3_5'UTR	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN	Homo sapiens RAD54-like 2 (S. cerevisiae) (RAD54L2), mRNA.	655						nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		GGGACCAGTGCCCGCTGTCCA	0.557000												
YARS2	51067	broad.mit.edu	37	12	32902887	32902887	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:32902887G>A	uc001rli.3	-	3	1337	c.1258C>T	c.(1258-1260)Cca>Tca	p.P420S		NM_001040436	NP_001035526	Q9Y2Z4	SYYM_HUMAN	Homo sapiens tyrosyl-tRNA synthetase 2, mitochondrial (YARS2), nuclear gene encoding mitochondrial protein, mRNA.	420					tyrosyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|RNA binding|protein binding|tyrosine-tRNA ligase activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	GGACCATCTGGAATGGCATTT	0.393000												
ADRA1D	146	broad.mit.edu	37	20	4202178	4202178	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:4202178C>T	uc002wkr.2	-	1	1766	c.1711G>A	c.(1711-1713)Gat>Aat	p.D571N		NM_000678	NP_000669	P25100	ADA1D_HUMAN	Homo sapiens adrenergic, alpha-1D-, receptor (ADRA1D), mRNA.	571				KPPSAFREWRLLGPFRRPTTQLRAKVSSLSHKIRAGGAQRA EAACAQRSEVEAVSLGVPHEVAEGATCQAYELADYSNLRET DI -> SHPAPSASGGCWGRSGDPRPSCAPKSPACRTRSPP GARSAQRQRAPSAQRWRLCP (in Ref. 1).	DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|cell proliferation|cell-cell signaling|multicellular organismal development|positive regulation of cell proliferation	integral to plasma membrane	alpha1-adrenergic receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14					Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)	CCTTAAATATCGGTCTCCCGT	0.637000											OREG0025743	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CCDC19	25790	broad.mit.edu	37	1	159850438	159850438	+	Missense_Mutation	SNP	C	C	T	rs138411937		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:159850438C>T	uc001fui.3	-	7	968	c.950G>A	c.(949-951)cGc>cAc	p.R317H	CCDC19_uc009wtb.3_Non-coding_Transcript|CCDC19_uc001fuk.3_Missense_Mutation_p.R232H|CCDC19_uc001fuj.3_Non-coding_Transcript|CCDC19_uc009wtc.1_Missense_Mutation_p.R303H	NM_012337	NP_036469	Q9UL16	CCD19_HUMAN	Homo sapiens coiled-coil domain containing 19 (CCDC19), mRNA.	317						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)			ATCATTGATGCGCTTAATCTC	0.463000												
INPP5D	3635	broad.mit.edu	37	2	234072453	234072453	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:234072453C>T	uc010zmo.2	+	10	1407	c.1254C>T	c.(1252-1254)taC>taT	p.Y418Y	INPP5D_uc010zmp.2_Silent_p.Y417Y	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.	447					T cell receptor signaling pathway|apoptosis|blood coagulation|leukocyte migration	cytosol	SH3 domain binding|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		ATGACATTTACGTGATCGGCA	0.547000												
AVP	551	broad.mit.edu	37	20	3065221	3065221	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:3065221A>C	uc002whu.3	-	0	150	c.100T>G	c.(100-102)Tcc>Gcc	p.S34A		NM_000490	NP_000481	P01185	NEU2_HUMAN	Homo sapiens arginine vasopressin (AVP), mRNA.	34					ERK1 and ERK2 cascade|cell-cell signaling|generation of precursor metabolites and energy|negative regulation of apoptosis|negative regulation of release of cytochrome c from mitochondria|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|protein kinase C signaling cascade|sodium-independent organic anion transport|transmembrane transport|vasoconstriction|water transport	cytosol|soluble fraction	V1A vasopressin receptor binding|caspase inhibitor activity|neurohypophyseal hormone activity|protein kinase activity|signal transducer activity			central_nervous_system(1)|prostate(1)|skin(1)	3				COAD - Colon adenocarcinoma(99;0.00643)		TCCAGGTCGGACATGGCCCTC	0.642000												
PTPRC	5788	broad.mit.edu	37	1	198687371	198687371	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:198687371G>A	uc001gur.1	+	13	1773	c.1593G>A	c.(1591-1593)tcG>tcA	p.S531S	PTPRC_uc001gut.1_Silent_p.S370S|PTPRC_uc009wzf.1_Silent_p.S419S|PTPRC_uc021pgy.1_Silent_p.S485S|PTPRC_uc010ppg.1_Silent_p.S467S	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	531	Fibronectin type-III 2.				B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GAAATGAGTCGCATAAGAATT	0.403000												
FREM1	158326	broad.mit.edu	37	9	14775838	14775838	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:14775838G>A	uc003zlm.3	-	25	5622	c.4806C>T	c.(4804-4806)ggC>ggT	p.G1602G	FREM1_uc010mic.3_Intron|FREM1_uc003zlk.3_5'Flank|FREM1_uc003zll.3_Silent_p.G138G	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	1602					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TCACAATAAAGCCTTGGTTTG	0.468000												
TPR	7175	broad.mit.edu	37	1	186312540	186312540	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:186312540C>T	uc001grv.3	-	26	3965	c.3668G>A	c.(3667-3669)cGt>cAt	p.R1223H	MIR548F1_uc021pgf.1_Intron	NM_003292	NP_003283	P12270	TPR_HUMAN	Homo sapiens translocated promoter region (to activated MET oncogene) (TPR), mRNA.	1223					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic cell cycle spindle assembly checkpoint|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TTGTCGATAACGCAGACTCTC	0.368000			T	NTRK1	papillary thyroid							
IGSF9B	22997	broad.mit.edu	37	11	133794728	133794728	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:133794728G>A	uc001qgx.4	-	14	2337	c.2106C>T	c.(2104-2106)ggC>ggT	p.G702G	IGSF9B_uc001qgy.1_Silent_p.G544G	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	Homo sapiens immunoglobulin superfamily, member 9B (IGSF9B), mRNA.	702	Fibronectin type-III 2.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		TGCTGGAGACGCCGGCGATGT	0.562000												
ZNFX1	57169	broad.mit.edu	37	20	47887009	47887009	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:47887009C>T	uc002xui.3	-	2	1587	c.1340G>A	c.(1339-1341)cGa>cAa	p.R447Q		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	Homo sapiens zinc finger, NFX1-type containing 1 (ZNFX1), mRNA.	447							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			ATAGAGCAATCGTTTGGAATT	0.463000												
MAVS	57506	broad.mit.edu	37	20	3846580	3846580	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:3846580T>C	uc002wjw.4	+	6	1581	c.1409T>C	c.(1408-1410)gTg>gCg	p.V470A	MAVS_uc002wjx.4_Missense_Mutation_p.V329A|MAVS_uc002wjy.4_Missense_Mutation_p.V168A	NM_020746	NP_001193420	Q7Z434	MAVS_HUMAN	Homo sapiens mitochondrial antiviral signaling protein (MAVS), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	470					activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of IP-10 production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						GGGATCCACGTGGCTGAGAAC	0.647000												
PGM3	5238	broad.mit.edu	37	6	83900638	83900638	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:83900638C>T	uc011dyz.2	-	2	347	c.178G>A	c.(178-180)Gca>Aca	p.A60T	PGM3_uc003pju.2_Missense_Mutation_p.A32T|PGM3_uc003pjw.3_Intron|PGM3_uc021zcd.1_Missense_Mutation_p.A32T|RWDD2A_uc003pjx.4_5'Flank|RWDD2A_uc011dza.2_5'Flank	NM_001199917	NP_001186846	O95394	AGM1_HUMAN	Homo sapiens phosphoglucomutase 3 (PGM3), transcript variant 1, mRNA.	32					UDP-N-acetylglucosamine biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	18		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)		BRCA - Breast invasive adenocarcinoma(397;0.0478)		AGATGTTCTGCCTTCGTTCGA	0.438000												
RAD54B	25788	broad.mit.edu	37	8	95423510	95423510	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:95423510T>C	uc003ygk.3	-	3	469	c.338A>G	c.(337-339)aAg>aGg	p.K113R	RAD54B_uc010may.2_5'UTR|RAD54B_uc003ygl.2_Non-coding_Transcript	NM_012415	NP_001192192	O95073	FSBP_HUMAN	Homo sapiens RAD54 homolog B (S. cerevisiae) (RAD54B), transcript variant 1, mRNA.	0					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			TTCTTGTTCCTTGGACACTGC	0.323000								Direct reversal of damage;Homologous recombination				
CLDN20	49861	broad.mit.edu	37	6	155596935	155596935	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:155596935C>T	uc003qql.2	+	1	462	c.82C>T	c.(82-84)Ccc>Tcc	p.P28S	TFB1M_uc003qqj.4_Intron|TFB1M_uc003qqk.3_Intron|CLDN20_uc021zhh.1_Missense_Mutation_p.P28S	NM_001001346	NP_001001346	P56880	CLD20_HUMAN	Homo sapiens claudin 20 (CLDN20), mRNA.	28					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)		CACTCTGCTGCCCAACTGGAA	0.532000												
ULK1	8408	broad.mit.edu	37	12	132399917	132399917	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:132399917G>A	uc001uje.3	+	17	1828	c.1560G>A	c.(1558-1560)acG>acA	p.T520T		NM_003565	NP_003556	O75385	ULK1_HUMAN	Homo sapiens unc-51-like kinase 1 (C. elegans) (ULK1), mRNA.	520					autophagy|protein localization|regulation of autophagy	ULK1-ATG13-FIP200 complex|autophagic vacuole|cytosol|pre-autophagosomal structure	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		GGAGCGGGACGCCCTCCCCAC	0.672000												
IGSF1	3547	broad.mit.edu	37	X	130415705	130415705	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:130415705C>T	uc004ewe.4	-	7	1743	c.1460G>A	c.(1459-1461)cGc>cAc	p.R487H	IGSF1_uc004ewd.3_Missense_Mutation_p.R487H|IGSF1_uc022cdv.1_Missense_Mutation_p.R478H|IGSF1_uc004ewf.2_Missense_Mutation_p.R467H	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	487	Ig-like C2-type 5.				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						TGTCTCTACGCGATAGCTGCA	0.493000												
KCNJ2	3759	broad.mit.edu	37	17	68172423	68172423	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:68172423C>T	uc010dfg.3	+	1	1644	c.1243C>T	c.(1243-1245)Cct>Tct	p.P415S	KCNJ2_uc002jir.3_Missense_Mutation_p.P415S|KCNJ2_uc021ucj.1_Missense_Mutation_p.P415S	NM_000891	NP_000882	P63252	IRK2_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 2 (KCNJ2), mRNA.	415					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					GGCAAGTGTACCTCTAGAGCC	0.512000												
ZNF660	285349	broad.mit.edu	37	3	44635896	44635896	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:44635896A>T	uc003cnl.1	+	2	544	c.211A>T	c.(211-213)Atc>Ttc	p.I71F	ZNF660_uc021wwp.1_Missense_Mutation_p.I71F	NM_173658	NP_775929	Q6AZW8	ZN660_HUMAN	Homo sapiens zinc finger protein 660 (ZNF660), mRNA.	71					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		ACATGAGCGAATCCACACGGG	0.443000												
KCND3	3752	broad.mit.edu	37	1	112524688	112524688	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:112524688G>A	uc001ebu.1	-	1	1141	c.661C>T	c.(661-663)Cgc>Tgc	p.R221C	KCND3_uc001ebv.1_Missense_Mutation_p.R221C	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 3 (KCND3), transcript variant 1, mRNA.	221						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding	p.R221C(2)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		ACCGAGTAGCGCTCCCCGCAC	0.657000												
CSGALNACT1	55790	broad.mit.edu	37	8	19263549	19263549	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:19263549G>A	uc011kyn.2	-	9	2405	c.1341C>T	c.(1339-1341)ggC>ggT	p.G447G	CSGALNACT1_uc011kyo.2_Silent_p.G447G|CSGALNACT1_uc003wzg.3_Non-coding_Transcript|CSGALNACT1_uc011kyp.2_Silent_p.G447G	NM_001130518	NP_060841	Q8TDX6	CGAT1_HUMAN	Homo sapiens chondroitin sulfate N-acetylgalactosaminyltransferase 1 (CSGALNACT1), transcript variant 1, mRNA.	447					UDP-N-acetylgalactosamine metabolic process|UDP-glucuronate metabolic process|anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		CATCCTCTCCGCCCCAGCCTT	0.527000												
LRP1	4035	broad.mit.edu	37	12	57605717	57605717	+	Silent	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:57605717C>A	uc001snd.3	+	86	13732	c.13266C>A	c.(13264-13266)gcC>gcA	p.A4422A		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	4422					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CAGATATAGCCTCCATCCTAA	0.602000												
GPATCH8	23131	broad.mit.edu	37	17	42476724	42476724	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:42476724G>A	uc002igw.2	-	7	2940	c.2721C>T	c.(2719-2721)cgC>cgT	p.R907R	GPATCH8_uc002igv.2_Silent_p.R829R|GPATCH8_uc010wiz.2_Silent_p.R829R	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	Homo sapiens G patch domain containing 8 (GPATCH8), transcript variant 1, mRNA.	907	Ser-rich.					intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		AGTCATGGGAGCGCTTGGAGT	0.488000												
TSEN2	80746	broad.mit.edu	37	3	12570415	12570415	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:12570415C>T	uc003bxc.3	+	8	1515	c.1128C>T	c.(1126-1128)taC>taT	p.Y376Y	TSEN2_uc003bwz.3_Silent_p.Y317Y|TSEN2_uc003bxa.3_Silent_p.Y350Y|TSEN2_uc011auq.1_Silent_p.Y350Y|TSEN2_uc003bxb.3_Silent_p.Y376Y|TSEN2_uc011aur.1_Silent_p.Y285Y	NM_025265	NP_079541	Q8NCE0	SEN2_HUMAN	Homo sapiens tRNA splicing endonuclease 2 homolog (S. cerevisiae) (TSEN2), transcript variant 1, mRNA.	376					mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity			central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						CTCCATTTTACCATGCAAGGT	0.353000												
WISP1	8840	broad.mit.edu	37	8	134232921	134232921	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:134232921C>T	uc003yub.3	+	2	553	c.447C>T	c.(445-447)ggC>ggT	p.G149G	WISP1_uc003yuc.3_Intron|WISP1_uc010meb.3_Intron|WISP1_uc010mec.3_Intron|WISP1_uc010med.3_Intron|WISP1_uc003yud.3_Intron	NM_003882	NP_003873	O95388	WISP1_HUMAN	Homo sapiens WNT1 inducible signaling pathway protein 1 (WISP1), transcript variant 1, mRNA.	149	VWFC.				Wnt receptor signaling pathway|cell adhesion|cell-cell signaling|regulation of cell growth	extracellular region|soluble fraction	insulin-like growth factor binding	p.D148E(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			GCATCGACGGCGCGGTGGGCT	0.667000												
SPHKAP	80309	broad.mit.edu	37	2	228883827	228883827	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:228883827G>A	uc002vpq.2	-	6	1790	c.1743C>T	c.(1741-1743)tgC>tgT	p.C581C	SPHKAP_uc002vpp.2_Silent_p.C581C|SPHKAP_uc010zlx.1_Silent_p.C581C	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	581						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GAGCCACTGAGCATGTCACCT	0.557000												
GPRIN3	285513	broad.mit.edu	37	4	90170134	90170134	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:90170134C>T	uc003hsm.1	-	1	1647	c.1128G>A	c.(1126-1128)acG>acA	p.T376T	GPRIN3_uc021xqb.1_Silent_p.T376T	NM_198281	NP_938022	Q6ZVF9	GRIN3_HUMAN	Homo sapiens GPRIN family member 3 (GPRIN3), mRNA.	376										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		GGGGGGCTAGCGTGCTGTCAG	0.557000												
QRICH2	84074	broad.mit.edu	37	17	74287572	74287572	+	Missense_Mutation	SNP	G	G	A	rs144710718	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:74287572G>A	uc002jrd.1	-	3	2918	c.2738C>T	c.(2737-2739)gCa>gTa	p.A913V	QRICH2_uc010dgw.1_Intron	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	Homo sapiens glutamine rich 2 (QRICH2), mRNA.	913							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						GCCAGGTGATGCCACATGCTG	0.502000												
SNX29	92017	broad.mit.edu	37	16	12220513	12220513	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:12220513G>T	uc002dby.4	+	11	1488	c.271G>T	c.(271-273)Gcc>Tcc	p.A91S	SNX29_uc010uyx.1_Missense_Mutation_p.A118S	NM_032167	NP_115543	Q8TEQ0	SNX29_HUMAN	Homo sapiens sorting nexin 29 (SNX29), mRNA.	91					cell communication		phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						GGCCACTGTGGCCATGATGAA	0.488000												
HFM1	164045	broad.mit.edu	37	1	91818691	91818691	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:91818691G>T	uc001doa.4	-	14	1847	c.1748C>A	c.(1747-1749)gCt>gAt	p.A583D	HFM1_uc009wdb.3_5'Flank|HFM1_uc010osu.2_Missense_Mutation_p.A262D|HFM1_uc010osv.1_Missense_Mutation_p.A267D	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	Homo sapiens HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) (HFM1), mRNA.	583	Helicase C-terminal.						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)		ATGATAAGCAGCACCATCTTT	0.318000												
WWP1	11059	broad.mit.edu	37	8	87447904	87447904	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:87447904C>T	uc003ydt.3	+	15	2000	c.1720C>T	c.(1720-1722)Cag>Tag	p.Q574*	WWP1_uc010mai.3_Nonsense_Mutation_p.Q350*	NM_007013	NP_008944	Q9H0M0	WWP1_HUMAN	Homo sapiens WW domain containing E3 ubiquitin protein ligase 1 (WWP1), mRNA.	574					central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						TGTGTCCCGGCAGACATTGTT	0.328000												
SLC14A2	8170	broad.mit.edu	37	18	43204637	43204637	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:43204637A>G	uc002lbe.3	+	1	824	c.8A>G	c.(7-9)gAc>gGc	p.D3G	SLC14A2_uc002lbb.3_Missense_Mutation_p.D3G|SLC14A2_uc010dnj.3_Missense_Mutation_p.D3G	NM_007163	NP_009094	Q15849	UT2_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA.	3						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGAATGTCTGACCCCCACAGC	0.577000												
BHMT	635	broad.mit.edu	37	5	78415085	78415085	+	Missense_Mutation	SNP	G	G	A	rs147391267		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:78415085G>A	uc003kfu.4	+	2	275	c.170G>A	c.(169-171)cGc>cAc	p.R57H	BHMT_uc011cti.2_Intron	NM_001713	NP_001704	Q93088	BHMT1_HUMAN	Homo sapiens betaine--homocysteine S-methyltransferase (BHMT), mRNA.	57	Hcy-binding.				protein methylation|regulation of homocysteine metabolic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	CTCCCAGTTCGCCAGCTTCAT	0.443000												
HADHA	3030	broad.mit.edu	37	2	26414236	26414236	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:26414236G>A	uc002rgy.3	-	19	2305	c.2175C>T	c.(2173-2175)ggC>ggT	p.G725G	HADHA_uc010yks.2_Silent_p.G638G	NM_000182	NP_000173	P40939	ECHA_HUMAN	Homo sapiens hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit (HADHA), nuclear gene encoding mitochondrial protein, mRNA.	725					fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				NADH(DB00157)	TCTTCTGGGCGCCATACAGAT	0.517000												
XYLT1	64131	broad.mit.edu	37	16	17294440	17294440	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:17294440C>T	uc002dfa.3	-	3	1070	c.985G>A	c.(985-987)Gcc>Acc	p.A329T		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	Homo sapiens xylosyltransferase I (XYLT1), mRNA.	329					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|extracellular region|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AGGACAAAGGCGATTCTGACC	0.552000												
SEL1L	6400	broad.mit.edu	37	14	81952724	81952724	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:81952724G>A	uc010tvv.2	-	16	1824	c.1707C>T	c.(1705-1707)ggC>ggT	p.G569G		NM_005065	NP_005056	Q9UBV2	SE1L1_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like (C. elegans) (SEL1L), transcript variant 1, mRNA.	569	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		CATTGTAATCGCCATCTTTAT	0.438000												
USP19	10869	broad.mit.edu	37	3	49148537	49148537	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:49148537G>A	uc003cwd.2	-	21	3401	c.3082C>T	c.(3082-3084)Cgc>Tgc	p.R1028C	USP19_uc003cwa.3_Missense_Mutation_p.R836C|USP19_uc003cwb.3_Intron|USP19_uc003cvz.4_Missense_Mutation_p.R1131C|USP19_uc011bcg.2_Missense_Mutation_p.R1119C|USP19_uc003cwc.2_Missense_Mutation_p.R786C|USP19_uc011bch.2_Missense_Mutation_p.R1129C	NM_006677	NP_006668	O94966	UBP19_HUMAN	Homo sapiens ubiquitin specific peptidase 19 (USP19), transcript variant 4, mRNA.	1028					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCCTGCAAGCGCTCATTGTTC	0.617000												
INADL	10207	broad.mit.edu	37	1	62293227	62293227	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:62293227G>A	uc001dab.3	+	15	2066	c.1952G>A	c.(1951-1953)cGc>cAc	p.R651H	INADL_uc009waf.1_Missense_Mutation_p.R651H|INADL_uc001daa.2_Missense_Mutation_p.R651H|INADL_uc001dad.3_Missense_Mutation_p.R348H|INADL_uc001dac.3_Non-coding_Transcript	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	651					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	p.R651R(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GAACCAAGGCGCACTGAAACC	0.463000												
CSRP1	1465	broad.mit.edu	37	1	201454427	201454427	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:201454427G>A	uc021phg.1	-	4	642	c.489C>T	c.(487-489)ggC>ggT	p.G163G	CSRP1_uc001gwr.2_Non-coding_Transcript|CSRP1_uc021phh.1_Silent_p.G163G|CSRP1_uc001gws.3_Silent_p.G163G|CSRP1_uc010ppr.2_Silent_p.G157G	NM_001193572	NP_004069	P21291	CSRP1_HUMAN	Homo sapiens cysteine and glycine-rich protein 1 (CSRP1), transcript variant 5, mRNA.	163	LIM zinc-binding 2.					nucleus	zinc ion binding			large_intestine(3)|lung(2)|ovary(1)	6						AGTAAATCTCGCCATCCTTGT	0.507000												
GOLGA3	2802	broad.mit.edu	37	12	133381403	133381403	+	Missense_Mutation	SNP	G	G	A	rs138594544	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:133381403G>A	uc001ukz.1	-	6	2055	c.1496C>T	c.(1495-1497)gCg>gTg	p.A499V	GOLGA3_uc021rgt.1_Non-coding_Transcript|GOLGA3_uc001ula.1_Missense_Mutation_p.A499V|GOLGA3_uc001ulb.3_Missense_Mutation_p.A499V	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Homo sapiens golgin A3 (GOLGA3), transcript variant 1, mRNA.	499					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GTTGGACGACGCCAGGCTGGC	0.582000												
CAMK2A	815	broad.mit.edu	37	5	149631348	149631348	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:149631348G>A	uc003lru.2	-	8	873	c.658C>T	c.(658-660)Cgc>Tgc	p.R220C	CAMK2A_uc003lrt.2_Missense_Mutation_p.R220C|CAMK2A_uc010jhe.2_Missense_Mutation_p.R200C|CAMK2A_uc010jhf.1_Silent_p.T57T	NM_171825	NP_741960	Q9UQM7	KCC2A_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase II alpha (CAMK2A), transcript variant 2, mRNA.	220	Protein kinase.				interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission	cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGTACAGGCGGTGCTGGTCC	0.597000												
SVEP1	79987	broad.mit.edu	37	9	113241982	113241982	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:113241982G>A	uc010mtz.3	-	12	2757	c.2420C>T	c.(2419-2421)gCt>gTt	p.A807V	SVEP1_uc010mua.1_Missense_Mutation_p.A807V|SVEP1_uc004beu.2_Missense_Mutation_p.A807V	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	807					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	p.A807G(2)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ATCACAACGAGCTGCTTTGTA	0.383000												
AGXT2L1	64850	broad.mit.edu	37	4	109663750	109663750	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:109663750T>C	uc003hzc.3	-	12	1571	c.1390A>G	c.(1390-1392)Ata>Gta	p.I464V	AGXT2L1_uc010imc.3_Missense_Mutation_p.I458V|AGXT2L1_uc011cfm.2_Missense_Mutation_p.I424V|AGXT2L1_uc011cfn.2_Missense_Mutation_p.I391V|AGXT2L1_uc011cfo.2_Missense_Mutation_p.I406V	NM_031279	NP_112569	Q8TBG4	AT2L1_HUMAN	Homo sapiens alanine-glyoxylate aminotransferase 2-like 1 (AGXT2L1), transcript variant 1, mRNA.	464					cellular amino acid metabolic process	mitochondrion	alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000281)		AGCAGTTCTATGTGGGCTTCT	0.493000												
FBXO5	26271	broad.mit.edu	37	6	153296153	153296153	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:153296153C>T	uc003qpg.3	-	1	816	c.707G>A	c.(706-708)gGc>gAc	p.G236D	FBXO5_uc003qph.3_Missense_Mutation_p.G190D	NM_012177	NP_001135994	Q9UKT4	FBX5_HUMAN	Homo sapiens F-box protein 5 (FBXO5), transcript variant 1, mRNA.	236	Interaction with EVI5.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm|spindle	metal ion binding|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	15		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.38e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0893)		CATTTTTCTGCCAATTATATT	0.378000												
EGFR	1956	broad.mit.edu	37	7	55220348	55220348	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:55220348C>T	uc003tqk.3	+	5	984	c.738C>T	c.(736-738)agC>agT	p.S246S	EGFR_uc003tqh.3_Silent_p.S246S|EGFR_uc003tqi.3_Silent_p.S246S|EGFR_uc003tqj.3_Silent_p.S246S|EGFR_uc022adm.1_Silent_p.S246S|EGFR_uc010kzg.2_Silent_p.S201S|EGFR_uc022adn.1_Silent_p.S201S|EGFR_uc011kco.2_Silent_p.S193S|EGFR_uc003tql.1_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	246					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CCCGGGAGAGCGACTGCCTGG	0.677000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
MAN1B1	11253	broad.mit.edu	37	9	140002935	140002935	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:140002935G>A	uc004cld.2	+	12	2027	c.1992G>A	c.(1990-1992)acG>acA	p.T664T	MAN1B1_uc011mep.2_3'UTR|MAN1B1_uc010ncc.2_Non-coding_Transcript|MAN1B1_uc004clf.1_Silent_p.T337T	NM_016219	NP_057303	Q9UKM7	MA1B1_HUMAN	Homo sapiens mannosidase, alpha, class 1B, member 1 (MAN1B1), transcript variant 1, mRNA.	664					oligosaccharide metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	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)		TGGGGGAGACGCTCAAGTATC	0.562000												
MAML3	55534	broad.mit.edu	37	4	140640939	140640939	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:140640939G>A	uc021xsg.1	-	4	3707	c.2955C>T	c.(2953-2955)ggC>ggT	p.G985G	MGST2_uc021xsf.1_Intron|MGST2_uc010ioi.1_Intron|MAML3_uc011chd.1_Silent_p.G448G	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN	Homo sapiens mastermind-like 3 (Drosophila) (MAML3), mRNA.	981					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					GGTAGCTGGCGCCATTGTTGA	0.567000												
FEZF2	55079	broad.mit.edu	37	3	62355881	62355881	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:62355881G>A	uc003dlh.2	-	3	1464	c.1257C>T	c.(1255-1257)tgC>tgT	p.C419C	FEZF2_uc003dli.2_Silent_p.C419C	NM_018008	NP_060478	Q8TBJ5	FEZF2_HUMAN	Homo sapiens FEZ family zinc finger 2 (FEZF2), mRNA.	419					transcription, DNA-dependent	nucleus	zinc ion binding	p.C419C(4)|p.T418M(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		CGCAAGTGGCGCACGTGAAAG	0.522000												
TUSC3	7991	broad.mit.edu	37	8	15508247	15508247	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:15508247G>A	uc003wwt.3	+	2	694	c.350G>A	c.(349-351)cGc>cAc	p.R117H	TUSC3_uc003wwu.3_Missense_Mutation_p.R117H	NM_006765	NP_006756	Q13454	TUSC3_HUMAN	Homo sapiens tumor suppressor candidate 3 (TUSC3), transcript variant 1, mRNA.	117					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex		p.R117H(2)|p.R117C(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		AACTCCTGGCGCTATTCATCT	0.398000												
POGZ	23126	broad.mit.edu	37	1	151396574	151396574	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:151396574G>A	uc001eyd.2	-	8	1689	c.1374C>T	c.(1372-1374)ggC>ggT	p.G458G	POGZ_uc021oyq.1_Silent_p.G405G|POGZ_uc010pdb.2_Silent_p.G449G|POGZ_uc010pdc.2_Silent_p.G396G|POGZ_uc009wmv.2_Silent_p.G363G|POGZ_uc001eyf.2_Silent_p.G405G|POGZ_uc010pdd.2_Intron	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	Homo sapiens pogo transposable element with ZNF domain (POGZ), transcript variant 1, mRNA.	458					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGACGGCATCGCCCACGTTCT	0.507000												
PRICKLE1	144165	broad.mit.edu	37	12	42858589	42858589	+	Missense_Mutation	SNP	G	G	A	rs151332996	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:42858589G>A	uc010skv.2	-	6	1534	c.1247C>T	c.(1246-1248)aCg>aTg	p.T416M	PRICKLE1_uc001rnl.3_Missense_Mutation_p.T416M|PRICKLE1_uc010skw.2_Missense_Mutation_p.T416M|PRICKLE1_uc001rnm.3_Missense_Mutation_p.T416M	NM_001144881	NP_694571	Q96MT3	PRIC1_HUMAN	Homo sapiens prickle homolog 1 (Drosophila) (PRICKLE1), transcript variant 2, mRNA.	416					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		GAGGAGCTGCGTCATATAATC	0.448000												
NOTCH1	4851	broad.mit.edu	37	9	139412321	139412321	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:139412321G>A	uc004chz.3	-	7	1324	c.1324C>T	c.(1324-1326)Cag>Tag	p.Q442*		NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	442	EGF-like 11; calcium-binding (Potential).				Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GTGTAGCCCTGCAGACACTGG	0.652000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)		
ZDHHC23	254887	broad.mit.edu	37	3	113673204	113673204	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:113673204G>A	uc003eau.3	+	2	1118	c.819G>A	c.(817-819)tgG>tgA	p.W273*	ZDHHC23_uc003eav.3_Nonsense_Mutation_p.W267*	NM_173570	NP_775841	Q8IYP9	ZDH23_HUMAN	Homo sapiens zinc finger, DHHC-type containing 23 (ZDHHC23), mRNA.	273						integral to membrane	acyltransferase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						CCCGGGCATGGCACTGCCGGA	0.522000												
STAB1	23166	broad.mit.edu	37	3	52556909	52556909	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:52556909G>A	uc003dej.3	+	61	6937	c.6863G>A	c.(6862-6864)cGc>cAc	p.R2288H	STAB1_uc003dek.1_Missense_Mutation_p.R303H|STAB1_uc003del.3_Missense_Mutation_p.R175H	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	2288	Link.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	p.R2288H(2)		breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CTGGGTGCCCGCAAGAACCTC	0.617000												
TIAM2	26230	broad.mit.edu	37	6	155577914	155577914	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:155577914G>A	uc003qqb.3	+	28	6038	c.4765G>A	c.(4765-4767)Gaa>Aaa	p.E1589K	TIAM2_uc003qqe.3_Missense_Mutation_p.E1589K|TFB1M_uc003qqj.4_3'UTR|TIAM2_uc010kjj.3_Missense_Mutation_p.E1151K|TIAM2_uc003qqf.3_Missense_Mutation_p.E965K|TIAM2_uc011efl.1_Missense_Mutation_p.E933K|TIAM2_uc003qqg.3_Missense_Mutation_p.E901K|TIAM2_uc003qqh.3_Missense_Mutation_p.E514K|AB075492_uc021zhg.1_5'Flank|TFB1M_uc003qqi.1_5'Flank	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	1589					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TAAAGACATCGAAATTCAGTT	0.542000												
MDH1B	130752	broad.mit.edu	37	2	207619807	207619807	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:207619807A>T	uc002vbs.3	-	4	891	c.836T>A	c.(835-837)aTt>aAt	p.I279N	MDH1B_uc010ziw.2_Intron|MDH1B_uc002vbt.3_Intron|MDH1B_uc010fui.3_Missense_Mutation_p.I279N|MDH1B_uc021vvm.1_Missense_Mutation_p.I181N	NM_001039845	NP_001034934	Q5I0G3	MDH1B_HUMAN	Homo sapiens malate dehydrogenase 1B, NAD (soluble) (MDH1B), mRNA.	279					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		CACAGCAATAATGTTGTGTGC	0.463000												
HYOU1	10525	broad.mit.edu	37	11	118921765	118921765	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:118921765G>A	uc001puu.2	-	13	1840	c.1647C>T	c.(1645-1647)ggC>ggT	p.G549G	HYOU1_uc001put.2_Silent_p.G514G|HYOU1_uc010ryu.1_Silent_p.G569G|HYOU1_uc010ryv.1_Silent_p.G438G|HYOU1_uc001pux.3_Silent_p.G549G|HYOU1_uc010ryw.2_Non-coding_Transcript|HYOU1_uc001puw.1_Silent_p.G549G	NM_006389	NP_006380	Q9Y4L1	HYOU1_HUMAN	Homo sapiens hypoxia up-regulated 1 (HYOU1), transcript variant 1, mRNA.	549						endoplasmic reticulum lumen	ATP binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		GACTGAGCACGCCACTCTCAT	0.537000												
OR4K1	79544	broad.mit.edu	37	14	20404350	20404350	+	Silent	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:20404350T>C	uc001vwj.2	+	0	584	c.525T>C	c.(523-525)gaT>gaC	p.D175D		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA.	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		ATGAGGTGGATAGCTTCTTTT	0.453000												
PHACTR3	116154	broad.mit.edu	37	20	58349436	58349436	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:58349436C>T	uc002yau.3	+	6	1532	c.1065C>T	c.(1063-1065)gcC>gcT	p.A355A	PHACTR3_uc002yat.3_Silent_p.A352A|PHACTR3_uc010zzw.2_Silent_p.A314A|PHACTR3_uc002yav.3_Silent_p.A314A|PHACTR3_uc002yaw.3_Silent_p.A314A|PHACTR3_uc002yax.3_Silent_p.A244A	NM_080672	NP_899067	Q96KR7	PHAR3_HUMAN	Homo sapiens phosphatase and actin regulator 3 (PHACTR3), transcript variant 1, mRNA.	355						nuclear matrix	actin binding|protein phosphatase inhibitor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			AGCGAACTGCCGCTAAGGAAT	0.542000												
KCNMA1	3778	broad.mit.edu	37	10	78709065	78709065	+	Silent	SNP	G	G	A	rs139475681		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:78709065G>A	uc001jxn.3	-	21	2721	c.2544C>T	c.(2542-2544)ggC>ggT	p.G848G	KCNMA1_uc021ptu.1_Silent_p.G740G|KCNMA1_uc001jxj.2_Silent_p.G794G|KCNMA1_uc001jxk.1_Silent_p.G466G|KCNMA1_uc009xrt.1_Silent_p.G639G|KCNMA1_uc001jxl.1_Silent_p.G473G|KCNMA1_uc001jxo.3_Silent_p.G831G|KCNMA1_uc001jxm.3_Silent_p.G790G|KCNMA1_uc001jxq.3_Silent_p.G793G	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, alpha member 1 (KCNMA1), transcript variant 3, mRNA.	848	Segment S9.				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	p.T847M(1)		breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	AGCTGACGTCGCCAAAGATGC	0.552000												
XRCC4	7518	broad.mit.edu	37	5	82406986	82406986	+	Silent	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:82406986T>C	uc003kib.3	+	2	407	c.279T>C	c.(277-279)tgT>tgC	p.C93C	XRCC4_uc003kia.1_Silent_p.C93C|XRCC4_uc003kic.3_Silent_p.C93C|XRCC4_uc003kid.3_Silent_p.C93C|XRCC4_uc003kie.3_Silent_p.C93C	NM_022406	NP_071801	Q13426	XRCC4_HUMAN	Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 4 (XRCC4), transcript variant 2, mRNA.	93					DNA ligation involved in DNA repair|double-strand break repair via nonhomologous end joining|initiation of viral infection|positive regulation of ligase activity|provirus integration|response to X-ray	DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|cytosol|nucleoplasm	DNA binding|protein C-terminus binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(2)|skin(3)	17		Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034)		OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28)		AAGAGTCTTGTTATTTCTTCT	0.323000								Non-homologous end-joining				
WDR66	144406	broad.mit.edu	37	12	122359496	122359496	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:122359496A>C	uc009zxk.3	+	1	444	c.285A>C	c.(283-285)gaA>gaC	p.E95D	WDR66_uc021rfh.1_Missense_Mutation_p.E95D	NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN	Homo sapiens WD repeat domain 66 (WDR66), transcript variant 1, mRNA.	95	Glu-rich.						calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		TACAGGAAGAAACCACAGTAG	0.473000												
PDZD2	23037	broad.mit.edu	37	5	31799525	31799525	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:31799525T>C	uc003jhl.3	+	1	558	c.170T>C	c.(169-171)gTc>gCc	p.V57A	PDZD2_uc003jhm.3_Missense_Mutation_p.V57A	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	57					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GAGAGTACGGTCCCACCTGAT	0.592000												
THNSL2	55258	broad.mit.edu	37	2	88474827	88474827	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:88474827G>A	uc002ssy.4	+	2	2169	c.478G>A	c.(478-480)Gac>Aac	p.D160N	THNSL2_uc002ssw.4_Missense_Mutation_p.D160N|THNSL2_uc002sta.4_Missense_Mutation_p.D2N|THNSL2_uc010fhe.3_Missense_Mutation_p.D2N|THNSL2_uc021vkq.1_Missense_Mutation_p.D160N|THNSL2_uc021vkr.1_Missense_Mutation_p.D160N	NM_018271	NP_060741	Q86YJ6	THNS2_HUMAN	Homo sapiens threonine synthase-like 2 (S. cerevisiae) (THNSL2), transcript variant 1, mRNA.	160					threonine biosynthetic process		threonine synthase activity			breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						AAAGAACATGGACATTATCGT	0.493000												
NEK10	152110	broad.mit.edu	37	3	27244008	27244008	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:27244008C>A	uc010hfk.3	-	2	296	c.67G>T	c.(67-69)Gat>Tat	p.D23Y	NEK10_uc003cds.1_Missense_Mutation_p.D108Y|NEK10_uc010hfj.3_Missense_Mutation_p.D23Y			Q6ZWH5	NEK10_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 10 (NEK10), mRNA.	711							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GCCCAGACATCAGCCTTCTCC	0.488000												
C20orf112	140688	broad.mit.edu	37	20	31044021	31044021	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:31044021G>A	uc002wxu.4	-	2	444	c.287C>T	c.(286-288)cCg>cTg	p.P96L		NM_080616	NP_542183	Q96MY1	CT112_HUMAN	Homo sapiens chromosome 20 open reading frame 112 (C20orf112), mRNA.	96										endometrium(3)|kidney(2)|large_intestine(5)|lung(5)	15						CGTGGCCGGCGGGAGCTTGTC	0.682000												
DSC2	1824	broad.mit.edu	37	18	28671070	28671070	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:28671070C>T	uc002kwl.4	-	3	849	c.395G>A	c.(394-396)cGc>cAc	p.R132H	DSC2_uc002kwk.4_Missense_Mutation_p.R132H	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	132					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TCTCTTGGCGCGCCTTAGAAC	0.368000												
WDR35	57539	broad.mit.edu	37	2	20136078	20136078	+	Silent	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:20136078T>C	uc002rdi.3	-	20	2457	c.2349A>G	c.(2347-2349)gtA>gtG	p.V783V	WDR35_uc002rdj.3_Silent_p.V772V|WDR35_uc010ext.3_Non-coding_Transcript|WDR35_uc002rdh.3_Silent_p.V348V|WDR35_uc002rdk.4_Silent_p.V348V	NM_001006657	NP_001006658	Q9P2L0	WDR35_HUMAN	Homo sapiens WD repeat domain 35 (WDR35), transcript variant 1, mRNA.	783										breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAGCTGGAGTACTCTAAACC	0.433000												
HIST1H2BH	8345	broad.mit.edu	37	6	26252014	26252014	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:26252014C>T	uc003nhh.3	+	0	136	c.136C>T	c.(136-138)Ctg>Ttg	p.L46L	HIST1H3F_uc003nhg.1_5'Flank	NM_003524	NP_003515	Q93079	H2B1H_HUMAN	Homo sapiens histone cluster 1, H2bh (HIST1H2BH), mRNA.	46					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(3)|breast(2)|large_intestine(1)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	17						TTACAAGGTGCTGAAGCAAGT	0.557000												
WWC3	55841	broad.mit.edu	37	X	10085205	10085205	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:10085205G>A	uc004csx.4	+	10	1304	c.1106G>A	c.(1105-1107)cGc>cAc	p.R369H	WWC3_uc010nds.3_Missense_Mutation_p.R33H|WWC3_uc010ndt.3_Non-coding_Transcript	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	Homo sapiens WWC family member 3 (WWC3), mRNA.	369	Ser-rich.									NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						GGGAGCAGCCGCGGGTCCCTA	0.662000												
AR	367	broad.mit.edu	37	X	66942787	66942787	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:66942787C>T	uc004dwu.2	+	6	3683	c.2568C>T	c.(2566-2568)cgC>cgT	p.R856R	AR_uc022byk.1_Intron|AR_uc004dwv.2_Silent_p.R324R	NM_000044	NP_000035	P10275	ANDR_HUMAN	Homo sapiens androgen receptor (AR), transcript variant 1, mRNA.	855	Interaction with MYST2.|Ligand-binding.		F -> L (in AIS).		cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	p.R856R(2)|p.R674R(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	GCTCAAGACGCTTCTACCAGC	0.433000									Androgen Insensitivity Syndrome			
KIF13B	23303	broad.mit.edu	37	8	28967445	28967445	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:28967445C>T	uc003xhh.4	-	32	4132	c.4073G>A	c.(4072-4074)cGt>cAt	p.R1358H	AF086219_uc003xhi.1_5'Flank	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	Homo sapiens kinesin family member 13B (KIF13B), mRNA.	1358					T cell activation|microtubule-based movement|protein targeting|signal transduction	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		CTGGCGCAGACGATCTAAAGT	0.522000												
CRMP1	1400	broad.mit.edu	37	4	5838577	5838577	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:5838577G>A	uc003gis.3	-	9	1456	c.1367C>T	c.(1366-1368)gCg>gTg	p.A456V	CRMP1_uc003giq.3_Missense_Mutation_p.A342V|CRMP1_uc003gir.3_Missense_Mutation_p.A337V	NM_001014809	NP_001014809	Q14194	DPYL1_HUMAN	Homo sapiens collapsin response mediator protein 1 (CRMP1), transcript variant 1, mRNA.	342					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		CTTGCCCACCGCCTTCTGGGC	0.577000												
YTHDF1	54915	broad.mit.edu	37	20	61833667	61833667	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:61833667C>T	uc002yeh.3	-	3	1919	c.1625G>A	c.(1624-1626)cGc>cAc	p.R542H	YTHDF1_uc011aaq.2_Missense_Mutation_p.R492H	NM_017798	NP_060268	Q9BYJ9	YTHD1_HUMAN	Homo sapiens YTH domain family, member 1 (YTHDF1), mRNA.	542										NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						CTCCTCCTGGCGCTTCTCGTA	0.552000												
ZMAT2	153527	broad.mit.edu	37	5	140085213	140085213	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:140085213G>A	uc003lgy.1	+	5	486	c.472G>A	c.(472-474)Gcg>Acg	p.A158T		NM_144723	NP_653324	Q96NC0	ZMAT2_HUMAN	Homo sapiens zinc finger, matrin-type 2 (ZMAT2), mRNA.	158						nucleus	DNA binding|zinc ion binding	p.K157N(1)|p.A158A(1)		breast(2)|kidney(2)|large_intestine(1)|liver(1)|lung(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			aaaggccaaagcgtacaagaa	0.468000												
MBNL2	10150	broad.mit.edu	37	13	98009823	98009823	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:98009823G>A	uc010aft.3	+	5	1708	c.892G>A	c.(892-894)Gtc>Atc	p.V298I	MBNL2_uc001vmz.3_Missense_Mutation_p.V298I|MBNL2_uc001vna.3_Missense_Mutation_p.V298I|MBNL2_uc001vnb.3_Non-coding_Transcript|MBNL2_uc010tij.2_Missense_Mutation_p.V143I|MBNL2_uc001vnc.3_Missense_Mutation_p.V31I	NM_144778	NP_659002	Q5VZF2	MBNL2_HUMAN	Homo sapiens muscleblind-like 2 (Drosophila) (MBNL2), transcript variant 1, mRNA.	298					RNA splicing|mRNA processing|regulation of RNA splicing	cytoplasm|nucleus	RNA binding|zinc ion binding	p.V298I(2)|p.V49I(1)		endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)			TAACCCCAGCGTCTTGCACTA	0.532000												
PCDHAC2	56134	broad.mit.edu	37	5	140307066	140307066	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:140307066G>A	uc003lih.2	+	0	765	c.589G>A	c.(589-591)Gcc>Acc	p.A197T	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lig.1_Missense_Mutation_p.A197T	NM_018898	NP_061721	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 1 (PCDHAC1), transcript variant 1, mRNA.	221	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGAACAGCGCGCCACCCACCT	0.607000												
GSPT2	23708	broad.mit.edu	37	X	51488078	51488078	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:51488078C>T	uc004dpl.3	+	0	1598	c.1356C>T	c.(1354-1356)tcC>tcT	p.S452S		NM_018094	NP_060564	Q8IYD1	ERF3B_HUMAN	Homo sapiens G1 to S phase transition 2 (GSPT2), mRNA.	452					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					AGCTGGAATCCGGGTCCATTT	0.418000												
ADAT1	23536	broad.mit.edu	37	16	75654554	75654554	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:75654554G>A	uc002feo.2	-	2	313	c.144C>T	c.(142-144)tgC>tgT	p.C48C	ADAT1_uc002fep.2_5'UTR	NM_012091	NP_036223	Q9BUB4	ADAT1_HUMAN	Homo sapiens adenosine deaminase, tRNA-specific 1 (ADAT1), transcript variant 1, mRNA.	48					tRNA processing		RNA binding|metal ion binding|tRNA-specific adenosine deaminase activity			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)	19						CAGGGGTGTCGCAGGCCTTGT	0.507000												
MAN2A2	4122	broad.mit.edu	37	15	91453478	91453478	+	Silent	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:91453478G>T	uc010bnz.2	+	9	1648	c.1533G>T	c.(1531-1533)cgG>cgT	p.R511R	MAN2A2_uc010boa.3_Silent_p.R553R|MAN2A2_uc002bqc.3_Silent_p.R511R|MAN2A2_uc010uql.2_Silent_p.R173R|MAN2A2_uc010uqm.2_Intron|MAN2A2_uc010uqn.1_5'Flank	NM_006122	NP_006113	P49641	MA2A2_HUMAN	Homo sapiens mannosidase, alpha, class 2A, member 2 (MAN2A2), mRNA.	511					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			ACACTTCCCGGCCCTTCTACA	0.607000												
STAB2	55576	broad.mit.edu	37	12	104136204	104136204	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:104136204C>T	uc001tjw.3	+	55	6089	c.5903C>T	c.(5902-5904)gCc>gTc	p.A1968V	STAB2_uc009zug.3_Non-coding_Transcript	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	1968	Laminin EGF-like 2.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GGACCAGATGCCCCGTGTAAT	0.557000												
ASB15	142685	broad.mit.edu	37	7	123269456	123269456	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:123269456G>T	uc003vku.1	+	9	1700	c.1408G>T	c.(1408-1410)Gga>Tga	p.G470*	ASB15_uc003vkw.1_Nonsense_Mutation_p.G470*	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 15 (ASB15), mRNA.	470					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						GGTGCTGCCAGGATGGACATC	0.383000												
DHRS4	10901	broad.mit.edu	37	14	24470629	24470629	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:24470629C>T	uc001wli.4	+	5	698	c.568C>T	c.(568-570)Ctg>Ttg	p.L190L	DHRS4_uc021rrd.1_Intron|DHRS4_uc021rrf.1_Intron|DHRS4_uc001wld.4_Intron|DHRS4_uc001wle.4_Intron|DHRS4_uc001wlc.4_Intron|DHRS4_uc021rrb.1_Silent_p.L89L|DHRS4_uc021rrc.1_Silent_p.L48L|DHRS4_uc021rre.1_Silent_p.L128L|DHRS4_uc010tnt.2_Silent_p.L113L|DHRS4_uc010alb.3_Silent_p.L64L	NM_198083	NP_001180565	Q9BTZ2	DHRS4_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 4 like 2 (DHRS4L2), transcript variant 1, mRNA.	190						mitochondrion|nuclear membrane|peroxisome	binding|carbonyl reductase (NADPH) activity			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	AACAGCCTTGCTGGGCCTCAA	0.473000												
CCDC135	84229	broad.mit.edu	37	16	57735853	57735853	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:57735853G>A	uc002emi.3	+	4	599	c.510G>A	c.(508-510)tcG>tcA	p.S170S	CCDC135_uc002emj.3_Silent_p.S170S|CCDC135_uc002emk.3_Intron	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	Homo sapiens coiled-coil domain containing 135 (CCDC135), mRNA.	170						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						ACCAGCCCTCGCACCTGTACT	0.627000												
REST	5978	broad.mit.edu	37	4	57798266	57798266	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:57798266G>A	uc003hch.3	+	3	3589	c.3242G>A	c.(3241-3243)cGc>cAc	p.R1081H	REST_uc003hci.3_Missense_Mutation_p.R1081H|REST_uc010ihf.3_Missense_Mutation_p.R755H	NM_005612	NP_005603	Q13127	REST_HUMAN	Homo sapiens RE1-silencing transcription factor (REST), transcript variant 1, mRNA.	1081	Interaction with RCOR1.				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					CACCTCAATCGCCATTTGGTT	0.393000												
MYO18B	84700	broad.mit.edu	37	22	26299648	26299648	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:26299648G>T	uc003abz.1	+	30	5248	c.4998G>T	c.(4996-4998)caG>caT	p.Q1666H	MYO18B_uc003aca.1_Missense_Mutation_p.Q1547H|MYO18B_uc010guy.1_Missense_Mutation_p.Q1548H|MYO18B_uc010guz.1_Missense_Mutation_p.Q1546H|MYO18B_uc011aka.1_Missense_Mutation_p.Q820H|MYO18B_uc011akb.1_Missense_Mutation_p.Q1179H	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	1666	Gln-rich.|Tail.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AGATGCTACAGGACCATAAAC	0.552000												
KIAA1244	57221	broad.mit.edu	37	6	138655785	138655785	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:138655785C>T	uc003qhu.3	+	32	5973	c.5802C>T	c.(5800-5802)ggC>ggT	p.G1934G		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	Homo sapiens KIAA1244 (KIAA1244), mRNA.	1934					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	p.G1863G(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TCTTCAAGGGCGACCCGTTCT	0.562000												
CAPN12	147968	broad.mit.edu	37	19	39229238	39229238	+	Silent	SNP	C	C	T	rs148191501	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:39229238C>T	uc002ojd.1	-	5	1089	c.780G>A	c.(778-780)gcG>gcA	p.A260A	CAPN12_uc002ojc.1_5'Flank	NM_144691	NP_653292	Q6ZSI9	CAN12_HUMAN	Homo sapiens calpain 12 (CAPN12), mRNA.	260	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			TGATGGAATACGCGTGTCCCT	0.627000												
RTTN	25914	broad.mit.edu	37	18	67727254	67727254	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:67727254C>T	uc002lkp.2	-	35	4840	c.4772G>A	c.(4771-4773)cGg>cAg	p.R1591Q	RTTN_uc002lko.2_Non-coding_Transcript|RTTN_uc010xfb.1_Missense_Mutation_p.R679Q|RTTN_uc010dqp.2_5'UTR	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	Homo sapiens rotatin (RTTN), mRNA.	1591							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				ATGAGGTGGCCGTGGTGATGT	0.383000												
AUH	549	broad.mit.edu	37	9	93983211	93983211	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:93983211G>A	uc004arf.4	-	6	754	c.719C>T	c.(718-720)gCg>gTg	p.A240V	AUH_uc004arg.4_Missense_Mutation_p.A211V	NM_001698	NP_001689	Q13825	AUHM_HUMAN	Homo sapiens AU RNA binding protein/enoyl-CoA hydratase (AUH), nuclear gene encoding mitochondrial protein, mRNA.	240			A -> V (in MGA1).		branched chain family amino acid catabolic process|mRNA catabolic process	mitochondrial matrix	enoyl-CoA hydratase activity|mRNA 3'-UTR binding|methylglutaconyl-CoA hydratase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						GAGGACTCGCGCAGAGAATAT	0.557000												
ZRANB1	54764	broad.mit.edu	37	10	126631374	126631374	+	Silent	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:126631374T>C	uc010qug.2	+	1	494	c.390T>C	c.(388-390)tgT>tgC	p.C130C	ZRANB1_uc001lic.3_Silent_p.C104C	NM_017580	NP_060050	Q9UGI0	ZRAN1_HUMAN	Homo sapiens zinc finger, RAN-binding domain containing 1 (ZRANB1), mRNA.	104					Wnt receptor signaling pathway|positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination	aggresome|centrosome|intermediate filament cytoskeleton|nucleolus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		CAATCAGATGTACCCAGTGCT	0.458000												
LRFN4	78999	broad.mit.edu	37	11	66626561	66626561	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:66626561A>G	uc001ojr.3	+	0	1686	c.1346A>G	c.(1345-1347)tAc>tGc	p.Y449C	PC_uc001ojo.1_Intron|PC_uc001ojp.1_Intron|PC_uc001ojn.1_Intron	NM_024036	NP_076941	Q6PJG9	LRFN4_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 4 (LRFN4), mRNA.	449	Fibronectin type-III.					integral to membrane				breast(1)|lung(1)|prostate(1)	3						ACCCTCATCTACCGGTGAGGA	0.657000												
C19orf29	58509	broad.mit.edu	37	19	3624136	3624136	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:3624136C>T	uc002lyh.3	-	1	245	c.192G>A	c.(190-192)tgG>tgA	p.W64*	C19orf29_uc002lyi.4_Nonsense_Mutation_p.W64*|C19orf29_uc010dto.3_Non-coding_Transcript	NM_001080543	NP_067054	Q8WUQ7	CS029_HUMAN	Homo sapiens chromosome 19 open reading frame 29 (C19orf29), transcript variant 1, mRNA.	64						catalytic step 2 spliceosome	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(2)	15		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGAGCGCTGCCACCGCTCTT	0.637000												
BSN	8927	broad.mit.edu	37	3	49694978	49694978	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:49694978C>T	uc003cxe.4	+	4	8103	c.7989C>T	c.(7987-7989)agC>agT	p.S2663S		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	2663					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCATGAGCAGCGTGGGCATCC	0.622000												
CDH5	1003	broad.mit.edu	37	16	66420974	66420974	+	Missense_Mutation	SNP	C	C	T	rs150311666		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:66420974C>T	uc002eom.4	+	2	629	c.473C>T	c.(472-474)gCg>gTg	p.A158V	CDH5_uc002eon.1_Missense_Mutation_p.A158V	NM_001795	NP_001786	P33151	CADH5_HUMAN	Homo sapiens cadherin 5, type 2 (vascular endothelium) (CDH5), mRNA.	158	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding	p.A158V(2)|p.A158A(1)		central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		TTGTTCAATGCGTCCGTGCCT	0.572000												
SRA1	10011	broad.mit.edu	37	5	139930355	139930355	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:139930355G>A	uc003lga.3	-	4	1246	c.641C>T	c.(640-642)gCc>gTc	p.A214V	SRA1_uc003lfz.3_Missense_Mutation_p.A140V|SRA1_uc021yef.1_Missense_Mutation_p.A186V|SRA1_uc010jfm.3_Missense_Mutation_p.A140V	NM_001035235	NP_001030312	Q9HD15	SRA1_HUMAN	Homo sapiens steroid receptor RNA activator 1 (SRA1), transcript variant 1, mRNA.	214					apoptosis|cell differentiation|cell proliferation|transcription, DNA-dependent	cytoplasm|ribonucleoprotein complex	receptor activity	p.A213V(1)		endometrium(1)|kidney(1)|large_intestine(1)|prostate(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTTCATTGGCTGCCTCCTC	0.498000												
NEURL	9148	broad.mit.edu	37	10	105331403	105331403	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:105331403C>T	uc001kxh.3	+	2	883	c.473C>T	c.(472-474)cCt>cTt	p.P158L	NEURL_uc021pxn.1_Missense_Mutation_p.P141L	NM_004210	NP_004201	O76050	NEU1A_HUMAN	Homo sapiens neuralized homolog (Drosophila) (NEURL), mRNA.	158	NHR 1.				nervous system development	perinuclear region of cytoplasm	zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		AAGGCGCTGCCTGAGGAGTTT	0.602000												
LRRC14B	389257	broad.mit.edu	37	5	194842	194842	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:194842C>T	uc003jal.1	+	1	947	c.919C>T	c.(919-921)Cga>Tga	p.R307*		NM_001080478	NP_001073947	A6NHZ5	LR14B_HUMAN	Homo sapiens leucine rich repeat containing 14B (LRRC14B), mRNA.	307										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	10						GACCCCGCTGCGAGTACTGGA	0.647000												
ADRA1B	147	broad.mit.edu	37	5	159344141	159344141	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:159344141C>T	uc003lxt.1	+	0	402	c.229C>T	c.(229-231)Cgg>Tgg	p.R77W		NM_000679	NP_000670	P35368	ADA1B_HUMAN	Homo sapiens adrenergic, alpha-1B-, receptor (ADRA1B), mRNA.	77					G-protein signaling, coupled to cAMP nucleotide second messenger|cell proliferation|cell-cell signaling|intracellular protein kinase cascade	integral to plasma membrane	alpha1-adrenergic receptor activity	p.R77W(4)		endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656)	CCGGCACCTGCGGACGCCCAC	0.612000												
RIMBP2	23504	broad.mit.edu	37	12	130919323	130919323	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:130919323C>T	uc001uil.2	-	10	2374	c.2158G>A	c.(2158-2160)Gcc>Acc	p.A720T	RIMBP2_uc001uim.3_Missense_Mutation_p.A628T	NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	720						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TCCACCGAGGCGCCCCTCCTC	0.647000												
MLL3	58508	broad.mit.edu	37	7	151845551	151845551	+	Silent	SNP	G	G	A	rs138230031		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:151845551G>A	uc003wla.3	-	51	13680	c.13461C>T	c.(13459-13461)tgC>tgT	p.C4487C	MLL3_uc003wkz.3_Silent_p.C3605C|MLL3_uc003wkx.3_Silent_p.C645C|MLL3_uc003wky.3_Silent_p.C2051C	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	4487					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		CTTTAATGGCGCAAGTGAAGT	0.423000			N		medulloblastoma							
FAM188A	80013	broad.mit.edu	37	10	15838155	15838155	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:15838155G>A	uc001iod.1	-	10	1120	c.899C>T	c.(898-900)gCc>gTc	p.A300V	FAM188A_uc001ioe.1_Missense_Mutation_p.A127V	NM_024948	NP_079224	Q9H8M7	F188A_HUMAN	Homo sapiens family with sequence similarity 188, member A (FAM188A), mRNA.	300					apoptosis	nucleus	calcium ion binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						AGCTTCAGGGGCAACTAAAGC	0.373000												
CSTF3	1479	broad.mit.edu	37	11	33120306	33120306	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:33120306C>T	uc001muh.3	-	12	1224	c.1058G>A	c.(1057-1059)cGc>cAc	p.R353H	TCP11L1_uc001muf.1_Intron	NM_001326	NP_001317	Q12996	CSTF3_HUMAN	Homo sapiens cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa (CSTF3), transcript variant 1, mRNA.	353					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	RNA binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						ATACTTCATGCGACTCTAAGG	0.398000												
MTHFSD	64779	broad.mit.edu	37	16	86575334	86575334	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:86575334C>T	uc002fjn.3	-	6	701	c.650G>A	c.(649-651)cGc>cAc	p.R217H	MTHFSD_uc002fjm.3_Missense_Mutation_p.R216H|MTHFSD_uc010voo.2_Missense_Mutation_p.R197H|MTHFSD_uc010vop.2_Missense_Mutation_p.R54H|MTHFSD_uc010voq.2_Missense_Mutation_p.R216H|MTHFSD_uc010vor.2_Missense_Mutation_p.R217H|MTHFSD_uc002fjo.3_Missense_Mutation_p.R54H|MTHFSD_uc002fjp.2_Missense_Mutation_p.R197H	NM_001159377	NP_001152849	Q2M296	MTHSD_HUMAN	Homo sapiens methenyltetrahydrofolate synthetase domain containing (MTHFSD), transcript variant 1, mRNA.	217					folic acid-containing compound biosynthetic process		5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|RNA binding			endometrium(1)|large_intestine(3)|lung(6)|skin(1)	11						TGGCTTTGGGCGCTTGCAGCC	0.562000												
ENTPD1	953	broad.mit.edu	37	10	97605259	97605259	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:97605259G>A	uc010qoj.2	+	5	818	c.755G>A	c.(754-756)cGc>cAc	p.R252H	ENTPD1_uc001kle.1_Missense_Mutation_p.R247H|ENTPD1_uc001kli.4_Missense_Mutation_p.R247H|LOC728558_uc001klg.2_Intron|ENTPD1_uc010qok.2_Missense_Mutation_p.R132H|ENTPD1_uc010qol.2_Missense_Mutation_p.R132H|ENTPD1_uc001klh.4_Missense_Mutation_p.R240H|ENTPD1_uc010qom.2_Missense_Mutation_p.R240H|ENTPD1_uc010qon.2_Missense_Mutation_p.R102H|ENTPD1_uc009xva.3_Missense_Mutation_p.R102H	NM_001164178	NP_001157655	P49961	ENTP1_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 1 (ENTPD1), transcript variant 3, mRNA.	240					cell adhesion	integral to plasma membrane	ATP binding			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		CTGCAATTTCGCCTCTATGGC	0.488000												
KIAA0020	9933	broad.mit.edu	37	9	2811408	2811408	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:2811408C>T	uc003zhp.1	-	14	1684	c.1588G>A	c.(1588-1590)Gcc>Acc	p.A530T	KIAA0020_uc003zhq.1_Missense_Mutation_p.A529T	NM_014878	NP_055693	Q15397	K0020_HUMAN	Homo sapiens KIAA0020 (KIAA0020), mRNA.	530						endoplasmic reticulum|nucleolus	RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		GCCAAGCTGGCGATGGCATTC	0.527000												
PLRG1	5356	broad.mit.edu	37	4	155460278	155460278	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:155460278G>T	uc003iny.3	-	11	1255	c.1130C>A	c.(1129-1131)gCt>gAt	p.A377D	PLRG1_uc003inz.3_Missense_Mutation_p.A368D	NM_002669	NP_002660	O43660	PLRG1_HUMAN	Homo sapiens pleiotropic regulator 1 (PLRG1), transcript variant 1, mRNA.	377						catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				TAAAACCACAGCCCTAACTGA	0.363000												
ZNF234	10780	broad.mit.edu	37	19	44661004	44661004	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:44661004C>T	uc002oym.3	+	5	1142	c.835C>T	c.(835-837)Cag>Tag	p.Q279*	ZNF234_uc002oyl.4_Nonsense_Mutation_p.Q279*	NM_006630	NP_006621	Q14588	ZN234_HUMAN	Homo sapiens zinc finger protein 234 (ZNF234), transcript variant 1, mRNA.	279					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				TCAGGAACATCAGAGAATTCA	0.413000												
COBLL1	22837	broad.mit.edu	37	2	165550894	165550894	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:165550894C>T	uc002ucp.3	-	11	3344	c.3122G>A	c.(3121-3123)cGc>cAc	p.R1041H	COBLL1_uc002ucq.3_Missense_Mutation_p.R1003H|COBLL1_uc010zcw.2_Missense_Mutation_p.R1108H|COBLL1_uc010zcx.2_Missense_Mutation_p.R1049H|COBLL1_uc002ucn.3_Missense_Mutation_p.R469H|COBLL1_uc002uco.3_Missense_Mutation_p.R772H	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN	Homo sapiens COBL-like 1 (COBLL1), mRNA.	1079										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						TGACTCGGTGCGCTCTTTACT	0.473000												
AKAP8L	26993	broad.mit.edu	37	19	15511828	15511828	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:15511828G>A	uc002naw.1	-	5	942	c.843C>T	c.(841-843)ggC>ggT	p.G281G	AKAP8L_uc002nax.1_Non-coding_Transcript|AKAP8L_uc010xoh.1_Silent_p.G220G|AKAP8L_uc002nay.1_Silent_p.G281G|AKAP8L_uc002naz.3_Silent_p.G129G	NM_014371	NP_055186	Q9ULX6	AKP8L_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 8-like (AKAP8L), mRNA.	281						cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						CAGGACTGCCGCCCTGCTTTC	0.607000												
TRIP12	9320	broad.mit.edu	37	2	230672494	230672494	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:230672494G>A	uc002vpx.1	-	16	2535	c.2426C>T	c.(2425-2427)gCg>gTg	p.A809V	TRIP12_uc021vxw.1_Missense_Mutation_p.A767V|TRIP12_uc002vpy.1_Missense_Mutation_p.A464V|TRIP12_uc002vpw.1_Missense_Mutation_p.A761V|TRIP12_uc010zlz.1_Intron|TRIP12_uc010fxh.1_Missense_Mutation_p.A767V	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), mRNA.	761	WWE.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CTGCCATATCGCACCATCTGT	0.433000												
DOCK4	9732	broad.mit.edu	37	7	111617195	111617195	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:111617195C>T	uc003vfy.3	-	7	962	c.693G>A	c.(691-693)cgG>cgA	p.R231R	DOCK4_uc003vfx.3_Silent_p.R231R|DOCK4_uc003vga.1_5'UTR|DOCK4_uc010ljt.1_Silent_p.R231R	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA.	231					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity|receptor tyrosine kinase 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)				ACCTGATTGGCCGGTTCTCTT	0.443000												
MFSD9	84804	broad.mit.edu	37	2	103334879	103334879	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:103334879C>T	uc002tcb.2	-	5	1493	c.1425G>A	c.(1423-1425)taG>taA	p.*475*	MFSD9_uc010fja.2_Non-coding_Transcript|MFSD9_uc021vls.1_Silent_p.*414*	NM_032718	NP_116107	Q8NBP5	MFSD9_HUMAN	Homo sapiens major facilitator superfamily domain containing 9 (MFSD9), mRNA.	0					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						CCAAATCCATCTACTCACTTT	0.453000												
ACTN3	89	broad.mit.edu	37	11	66330622	66330622	+	Silent	SNP	C	C	T	rs79516407	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:66330622C>T	uc021qma.1	+	10	1431	c.918C>T	c.(916-918)taC>taT	p.Y306Y	ACTN3_uc021qlz.1_Non-coding_Transcript			Q08043	ACTN3_HUMAN	Homo sapiens actinin, alpha 3 (ACTN3), mRNA.	888					focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						CCCTGGACTACGTGGCCTTCT	0.632000												
TANC1	85461	broad.mit.edu	37	2	160050772	160050772	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:160050772G>A	uc002uag.3	+	16	3021	c.2747G>A	c.(2746-2748)aGc>aAc	p.S916N	TANC1_uc010zcm.2_Missense_Mutation_p.S908N|TANC1_uc010fom.1_Missense_Mutation_p.S722N	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 (TANC1), transcript variant 1, mRNA.	916						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CAACAGGTGAGCCGTCTCCTG	0.468000												
SIRPB2	284759	broad.mit.edu	37	20	1459011	1459011	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:1459011G>A	uc002wfg.2	-	2	921	c.693C>T	c.(691-693)aaC>aaT	p.N231N	SIRPB2_uc002wfh.3_Silent_p.N133N|SIRPB2_uc010zpr.1_Silent_p.N93N	NM_001122962	NP_001116434	Q5JXA9	SIRB2_HUMAN	Homo sapiens signal-regulatory protein beta 2 (SIRPB2), transcript variant 1, mRNA.	231	Ig-like V-type 2.					integral to membrane				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CACTGGAGACGTTTTGCAGAA	0.522000												
ZNF217	7764	broad.mit.edu	37	20	52198529	52198529	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:52198529C>T	uc002xwq.4	-	0	1179	c.837G>A	c.(835-837)acG>acA	p.T279T	ZNF217_uc010gij.1_Silent_p.T271T	NM_006526	NP_006517	O75362	ZN217_HUMAN	Homo sapiens zinc finger protein 217 (ZNF217), mRNA.	279					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.T279T(3)|p.T279M(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			GCTTCTTCCCCGTTTCAGGGT	0.547000												
PRICKLE1	144165	broad.mit.edu	37	12	42860064	42860064	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:42860064C>T	uc010skv.2	-	5	994	c.707G>A	c.(706-708)cGc>cAc	p.R236H	PRICKLE1_uc001rnl.3_Missense_Mutation_p.R236H|PRICKLE1_uc010skw.2_Missense_Mutation_p.R236H|PRICKLE1_uc001rnm.3_Missense_Mutation_p.R236H	NM_001144881	NP_694571	Q96MT3	PRIC1_HUMAN	Homo sapiens prickle homolog 1 (Drosophila) (PRICKLE1), transcript variant 2, mRNA.	236	LIM zinc-binding 2.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding	p.R236C(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		GCAGAAGGGGCGGCCGTCCTT	0.542000												
DMC1	11144	broad.mit.edu	37	22	38934370	38934370	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:38934370G>A	uc003avz.1	-	10	880	c.705C>T	c.(703-705)ggC>ggT	p.G235G	DMC1_uc011anv.1_Silent_p.G180G	NM_007068	NP_008999	Q14565	DMC1_HUMAN	Homo sapiens DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination (yeast) (DMC1), mRNA.	235					reciprocal meiotic recombination	condensed nuclear chromosome	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding			large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11	Melanoma(58;0.0286)					ACTCCCCACGGCCACTGAAAT	0.388000								Homologous recombination				
DNMT3B	1789	broad.mit.edu	37	20	31388002	31388002	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:31388002C>T	uc002wyc.3	+	16	2124	c.1803C>T	c.(1801-1803)taC>taT	p.Y601Y	DNMT3B_uc010zty.1_Non-coding_Transcript|DNMT3B_uc002wyd.3_Silent_p.Y581Y|DNMT3B_uc002wye.3_Silent_p.Y581Y|DNMT3B_uc010ztz.2_Silent_p.Y539Y|DNMT3B_uc010zua.2_Silent_p.Y505Y|DNMT3B_uc010gee.3_Non-coding_Transcript|DNMT3B_uc010gef.3_Non-coding_Transcript|DNMT3B_uc002wyf.3_Silent_p.Y593Y|DNMT3B_uc002wyg.3_Silent_p.Y300Y|DNMT3B_uc010geg.3_5'Flank|DNMT3B_uc010geh.3_5'Flank	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3 beta (DNMT3B), transcript variant 1, mRNA.	601					negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TAGGAAAGTACGTCGCTTCTG	0.483000												
PADI2	11240	broad.mit.edu	37	1	17413176	17413176	+	Missense_Mutation	SNP	C	C	T	rs138756249	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:17413176C>T	uc001baf.3	-	6	756	c.674G>A	c.(673-675)cGc>cAc	p.R225H	PADI2_uc010ocm.2_Missense_Mutation_p.A144T|PADI2_uc001bag.1_Missense_Mutation_p.R225H	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN	Homo sapiens peptidyl arginine deiminase, type II (PADI2), mRNA.	225					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	GTGGATATAGCGTTGGCCGAA	0.597000												
USH2A	7399	broad.mit.edu	37	1	216040396	216040396	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:216040396G>A	uc001hku.1	-	43	9185	c.8798C>T	c.(8797-8799)gCg>gTg	p.A2933V		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	2933	Fibronectin type-III 16.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AAGGACACTCGCAGTGAGATT	0.453000										HNSCC(13;0.011)		
PARD6B	84612	broad.mit.edu	37	20	49366779	49366779	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:49366779C>T	uc002xvo.3	+	2	1116	c.873C>T	c.(871-873)agC>agT	p.S291S		NM_032521	NP_115910	Q9BYG5	PAR6B_HUMAN	Homo sapiens par-6 partitioning defective 6 homolog beta (C. elegans) (PARD6B), mRNA.	291					axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly	cytosol|tight junction	protein binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						ATGAAGACAGCGAAGAAGATG	0.468000												
PREP	5550	broad.mit.edu	37	6	105730445	105730445	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:105730445G>A	uc003prc.3	-	12	1795	c.1562C>T	c.(1561-1563)gCc>gTc	p.A521V		NM_002726	NP_002717	P48147	PPCE_HUMAN	Homo sapiens prolyl endopeptidase (PREP), mRNA.	521					proteolysis		serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	TTGTTTGTTGGCCAAGATACC	0.378000												
HEATR2	54919	broad.mit.edu	37	7	825235	825235	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:825235C>T	uc010krz.1	+	12	2533	c.2513C>T	c.(2512-2514)gCc>gTc	p.A838V	HEATR2_uc003siz.2_Missense_Mutation_p.A706V|HEATR2_uc003sjb.2_Missense_Mutation_p.A218V|HEATR2_uc003sjc.2_Missense_Mutation_p.A263V	NM_017802	NP_060272	Q86Y56	HEAT2_HUMAN	Homo sapiens HEAT repeat containing 2 (HEATR2), mRNA.	838							protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		CACCGCTCGGCCACCTACTGC	0.617000												
HECW1	23072	broad.mit.edu	37	7	43580834	43580834	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:43580834G>T	uc003tid.1	+	24	4697	c.4092G>T	c.(4090-4092)agG>agT	p.R1364S	HECW1_uc011kbi.1_Missense_Mutation_p.R1330S	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	1364	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TCTTCACGAGGCCCTTCTACA	0.552000												
MAST4	375449	broad.mit.edu	37	5	66448493	66448493	+	Silent	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:66448493T>C	uc021xzk.1	+	24	3632	c.3324T>C	c.(3322-3324)agT>agC	p.S1108S	MAST4_uc003jut.2_Silent_p.S919S|MAST4_uc003juw.3_Silent_p.S847S	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	1111	Ser-rich.					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CTCTGGGAAGTCCAATGTCTC	0.537000												
REC8	9985	broad.mit.edu	37	14	24642219	24642219	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:24642219C>T	uc001wmr.3	+	3	664	c.237C>T	c.(235-237)cgC>cgT	p.R79R	REC8_uc001wms.3_Silent_p.R79R	NM_005132	NP_005123	O95072	REC8_HUMAN	Homo sapiens REC8 homolog (yeast) (REC8), transcript variant 1, mRNA.	79					mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm		p.R79R(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		GTGTGATCCGCGTCTATTCTC	0.602000												
PPP1R8	5511	broad.mit.edu	37	1	28176610	28176610	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:28176610C>T	uc001bov.2	+	6	804	c.709C>T	c.(709-711)Cgt>Tgt	p.R237C	PPP1R8_uc009vtd.2_Missense_Mutation_p.R13C|PPP1R8_uc001bow.2_Missense_Mutation_p.R95C|PPP1R8_uc001box.2_Missense_Mutation_p.R13C|PPP1R8_uc021ojy.1_Missense_Mutation_p.R95C	NM_014110	NP_612568	Q12972	PP1R8_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 8 (PPP1R8), transcript variant 1, mRNA.	237					RNA catabolic process|RNA splicing|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear speck|spliceosomal complex	DNA binding|RNA binding|endonuclease activity|protein binding|protein serine/threonine phosphatase inhibitor activity|ribonuclease E activity			breast(2)|cervix(1)|endometrium(2)|lung(2)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.76e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00248)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)		GTAGAAGAAGCGTGTGGAGGG	0.572000												
MUC4	4585	broad.mit.edu	37	3	195508379	195508379	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:195508379C>T	uc021xjp.1	-	1	10228	c.10072G>A	c.(10072-10074)Gcc>Acc	p.A3358T	MUC4_uc003fva.3_5'Flank|MUC4_uc003fvb.3_5'Flank|MUC4_uc003fvc.3_5'Flank|MUC4_uc003fvd.3_5'Flank|MUC4_uc003fve.3_5'Flank|MUC4_uc010hzr.3_5'Flank|MUC4_uc021xjm.1_5'Flank|MUC4_uc021xjn.1_5'Flank|MUC4_uc021xjo.1_5'Flank|MUC4_uc021xjg.1_5'Flank|MUC4_uc021xjh.1_5'Flank|MUC4_uc021xji.1_5'Flank|MUC4_uc021xjj.1_5'Flank|MUC4_uc021xjk.1_5'Flank|MUC4_uc021xjl.1_5'Flank|MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	141					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGAGGGGTGGCGTGACCTGTG	0.602000												
RHOT2	89941	broad.mit.edu	37	16	721922	721922	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:721922G>A	uc002cip.3	+	12	1134	c.1017G>A	c.(1015-1017)gcG>gcA	p.A339A	RHOT2_uc002ciq.3_Silent_p.A232A|RHOT2_uc010bqy.3_Silent_p.A118A	NM_138769	NP_620124	Q8IXI1	MIRO2_HUMAN	Homo sapiens ras homolog gene family, member T2 (RHOT2), nuclear gene encoding mitochondrial protein, mRNA.	339	EF-hand 2.				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	GTP binding|GTPase activity|calcium ion binding|protein binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				TCCCAGCAGCGCCCTGGGGCC	0.672000												
SYNCRIP	10492	broad.mit.edu	37	6	86324613	86324613	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:86324613C>T	uc003pla.2	-	10	2274	c.1733G>A	c.(1732-1734)cGc>cAc	p.R578H	SYNCRIP_uc003pku.3_Intron|SYNCRIP_uc003pkv.3_Intron|SYNCRIP_uc003pkw.3_Intron|SYNCRIP_uc003pkx.3_Intron|SYNCRIP_uc003pky.3_Intron|SYNCRIP_uc003pkz.2_Missense_Mutation_p.R543H	NM_006372	NP_006363	O60506	HNRPQ_HUMAN	Homo sapiens synaptotagmin binding, cytoplasmic RNA interacting protein (SYNCRIP), transcript variant 1, mRNA.	578					CRD-mediated mRNA stabilization|interspecies interaction between organisms	CRD-mediated mRNA stability complex|catalytic step 2 spliceosome|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		ATTGGTCTGGCGCCGCTTGGA	0.552000												
PAPPA	5069	broad.mit.edu	37	9	119124887	119124887	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:119124887T>C	uc004bjn.3	+	17	4745	c.4364T>C	c.(4363-4365)gTc>gCc	p.V1455A	PAPPA_uc011lxq.2_Missense_Mutation_p.V830A	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	1455	Sushi 4.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GGGAGCAATGTCATTCATTGC	0.488000												
MLL3	58508	broad.mit.edu	37	7	151878430	151878430	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:151878430T>C	uc003wla.3	-	35	6734	c.6515A>G	c.(6514-6516)gAc>gGc	p.D2172G	MLL3_uc003wkz.3_Missense_Mutation_p.D1233G	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	2172	Pro-rich.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		ACTATATGGGTCAACAGTAGT	0.463000			N		medulloblastoma							
CD247	919	broad.mit.edu	37	1	167400950	167400950	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:167400950C>T	uc001gei.4	-	7	608	c.463G>A	c.(463-465)Gcc>Acc	p.A155T	CD247_uc001gej.4_Missense_Mutation_p.A154T	NM_198053	NP_932170	P20963	CD3Z_HUMAN	Homo sapiens CD247 molecule (CD247), transcript variant 1, mRNA.	155	ITAM 3.				T cell costimulation|T cell receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytoplasm|integral to membrane	protein homodimerization activity|transmembrane receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)	6			LUSC - Lung squamous cell carcinoma(543;0.236)			ATGTGAAGGGCGTCGTAGGTG	0.567000												
ATP8B2	57198	broad.mit.edu	37	1	154317952	154317952	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:154317952C>A	uc001fex.3	+	22	2724	c.2724C>A	c.(2722-2724)ttC>ttA	p.F908L		NM_020452	NP_065185	P98198	AT8B2_HUMAN	Homo sapiens ATPase, class I, type 8B, member 2 (ATP8B2), transcript variant 1, mRNA.	894					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.Y907C(1)	IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TTTGCTATTTCTTCTACAAAA	0.498000											OREG0013835	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
EYS	346007	broad.mit.edu	37	6	66200576	66200576	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:66200576C>A	uc011dxu.1	-	4	1311	c.773G>T	c.(772-774)gGc>gTc	p.G258V	EYS_uc003peq.3_Missense_Mutation_p.G258V|EYS_uc003per.1_Missense_Mutation_p.G258V|EYS_uc021zbn.1_Missense_Mutation_p.G258V|EYS_uc010kaj.1_Non-coding_Transcript	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN	Homo sapiens eyes shut homolog (Drosophila) (EYS), transcript variant 1, mRNA.	258	EGF-like 3.				response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TTGACACTGGCCAATTATTTC	0.303000												
PALM2-AKAP2	445815	broad.mit.edu	37	9	112899061	112899061	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:112899061C>T	uc004bei.2	+	8	2125	c.1933C>T	c.(1933-1935)Cgt>Tgt	p.R645C	PALM2-AKAP2_uc004bej.4_Missense_Mutation_p.R413C|PALM2-AKAP2_uc004bek.4_Missense_Mutation_p.R413C|PALM2-AKAP2_uc004bel.1_Missense_Mutation_p.R223C|PALM2-AKAP2_uc011lwi.2_Missense_Mutation_p.R271C|PALM2-AKAP2_uc004bem.3_Missense_Mutation_p.R271C|PALM2-AKAP2_uc010mtw.1_Missense_Mutation_p.R231C|PALM2-AKAP2_uc011lwj.2_Missense_Mutation_p.R182C|PALM2-AKAP2_uc004ben.3_Missense_Mutation_p.R182C	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 2, mRNA.	182							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						GTTTGAGCTGCGTGCCTTCCA	0.517000												
WDFY3	23001	broad.mit.edu	37	4	85701365	85701365	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:85701365C>T	uc003hpd.3	-	25	4669	c.4261G>A	c.(4261-4263)Gcc>Acc	p.A1421T		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	1421						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		ACATCAGAGGCCATGGCCACC	0.493000												
GALNT8	26290	broad.mit.edu	37	12	4835984	4835984	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:4835984G>A	uc001qne.1	+	1	590	c.498G>A	c.(496-498)acG>acA	p.T166T		NM_017417	NP_059113	Q9NY28	GALT8_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) (GALNT8), mRNA.	166						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.T166M(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						TCCCCGACACGCGAGACTACA	0.572000												
CHD1	1105	broad.mit.edu	37	5	98232112	98232112	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:98232112G>T	uc003knf.3	-	10	1676	c.1528C>A	c.(1528-1530)Ctt>Att	p.L510I		NM_001270	NP_001261	O14646	CHD1_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 1 (CHD1), mRNA.	510	Helicase ATP-binding.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	GTTTTTCCAAGGCCCATTTCA	0.318000												
HDAC11	79885	broad.mit.edu	37	3	13546068	13546068	+	Missense_Mutation	SNP	G	G	A	rs142419489		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:13546068G>A	uc003bxy.3	+	9	1062	c.929G>A	c.(928-930)cGc>cAc	p.R310H	HDAC11_uc010heb.3_3'UTR|HDAC11_uc011aux.2_Missense_Mutation_p.R118H|HDAC11_uc011auy.2_Missense_Mutation_p.R259H	NM_024827	NP_079103	Q96DB2	HDA11_HUMAN	Homo sapiens histone deacetylase 11 (HDAC11), transcript variant 1, mRNA.	310	Histone deacetylase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex|plasma membrane	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|transcription factor binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3)	13						CGCACAGCCCGCATCATTGCT	0.612000												
ERF	2077	broad.mit.edu	37	19	42753169	42753169	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:42753169C>T	uc002ote.4	-	3	1253	c.1095G>A	c.(1093-1095)tcG>tcA	p.S365S	ERF_uc002otd.4_Silent_p.S96S	NM_006494	NP_006485	P50548	ERF_HUMAN	Homo sapiens Ets2 repressor factor (ERF), mRNA.	365	Poly-Ser.				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				AAGAGGATGACGAGGCCGAGG	0.687000												
KRT222	125113	broad.mit.edu	37	17	38818220	38818220	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:38818220G>A	uc002hvc.2	-	1	238	c.173C>T	c.(172-174)gCc>gTc	p.A58V	KRT222_uc002hvb.2_Missense_Mutation_p.A18V|KRT222_uc010cxc.3_Missense_Mutation_p.A18V	NM_152349	NP_689562	Q8N1A0	KT222_HUMAN	Homo sapiens keratin 222 (KRT222), mRNA.	58						intermediate filament	structural molecule activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1)	15						CTGGCGTCGGGCCTCCTTGAG	0.473000												
TRRAP	8295	broad.mit.edu	37	7	98528370	98528370	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:98528370C>T	uc003upp.3	+	24	3717	c.3508C>T	c.(3508-3510)Cgg>Tgg	p.R1170W	TRRAP_uc011kis.2_Missense_Mutation_p.R1170W|TRRAP_uc003upr.3_Missense_Mutation_p.R862W	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	1170					histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCTCATGGAGCGGCTGCCTCT	0.507000												
SYNE1	23345	broad.mit.edu	37	6	152631593	152631593	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:152631593C>T	uc021zhb.1	-	86	17180	c.16957G>A	c.(16957-16959)Gca>Aca	p.A5653T	SYNE1_uc003qos.4_Missense_Mutation_p.A177T|SYNE1_uc003qot.4_Missense_Mutation_p.A5582T|SYNE1_uc003qou.4_Missense_Mutation_p.A5653T	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	5653					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTCAGTGTTGCCTGGGCTTGC	0.433000										HNSCC(10;0.0054)		
VAV2	7410	broad.mit.edu	37	9	136643996	136643996	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:136643996G>A	uc004ces.3	-	21	1824	c.1778C>T	c.(1777-1779)gCc>gTc	p.A593V	VAV2_uc004cer.3_Missense_Mutation_p.A583V|VAV2_uc004cet.1_Missense_Mutation_p.A132V	NM_001134398	NP_001127870	P52735	VAV2_HUMAN	Homo sapiens vav 2 guanine nucleotide exchange factor (VAV2), transcript variant 1, mRNA.	593	SH3 1.				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|metal ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		ATTCTGCATGGCCACCATCTT	0.627000												
SIAH2	6478	broad.mit.edu	37	3	150460413	150460413	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:150460413G>A	uc003eyi.3	-	1	1117	c.490C>T	c.(490-492)Cgt>Tgt	p.R164C		NM_005067	NP_005058	O43255	SIAH2_HUMAN	Homo sapiens seven in absentia homolog 2 (Drosophila) (SIAH2), mRNA.	164	SBD.				apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process	cytosol|nucleus	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)	16			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GAGTAGGGACGGTATTCACAT	0.532000												
OR7C1	26664	broad.mit.edu	37	19	14910601	14910601	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:14910601G>A	uc010xnz.2	-	0	348	c.348C>T	c.(346-348)acC>acT	p.T116T		NM_198944	NP_945182	O76099	OR7C1_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily C, member 1 (OR7C1), mRNA.	116					sensory perception of smell|spermatogenesis	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						AGGCCATCACGGTCAAGAGTA	0.478000												
SEPT2	4735	broad.mit.edu	37	2	242285659	242285659	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:242285659C>T	uc002wbh.3	+	13	1413	c.951C>T	c.(949-951)ggC>ggT	p.G317G	SEPT2_uc002wbc.3_Silent_p.G307G|SEPT2_uc002wbd.3_Silent_p.G307G|SEPT2_uc002wbf.3_Silent_p.G307G|SEPT2_uc002wbg.3_Silent_p.G307G|SEPT2_uc010zop.2_Silent_p.G342G	NM_006155	NP_006146	Q15019	SEPT2_HUMAN	Homo sapiens septin 2 (SEPT2), transcript variant 2, mRNA.	307					cell division|mitosis	actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle	GTP binding			central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)		TCAAGAGAGGCGGCAGGTCAT	0.502000												
ACSL3	2181	broad.mit.edu	37	2	223795440	223795440	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:223795440G>C	uc002vni.3	+	13	2093	c.1642G>C	c.(1642-1644)Gct>Cct	p.A548P	ACSL3_uc002vnj.3_Missense_Mutation_p.A548P	NM_004457	NP_976251	O95573	ACSL3_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 3 (ACSL3), transcript variant 1, mRNA.	548					long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	AAAAACAAAAGCTGATTTCTT	0.403000			T	ETV1	prostate							
DNAH11	8701	broad.mit.edu	37	7	21627789	21627789	+	Silent	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:21627789T>C	uc003svc.3	+	9	1849	c.1818T>C	c.(1816-1818)tgT>tgC	p.C606C		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	606	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TGGATGTGTGTAAGCAACTGT	0.373000									Kartagener syndrome			
WEE1	7465	broad.mit.edu	37	11	9607038	9607038	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:9607038C>T	uc001mhs.3	+	7	1687	c.1434C>T	c.(1432-1434)ggC>ggT	p.G478G	WEE1_uc001mht.3_Silent_p.G264G	NM_003390	NP_001137448	P30291	WEE1_HUMAN	Homo sapiens WEE1 homolog (S. pombe) (WEE1), transcript variant 1, mRNA.	478	Protein kinase.				G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|S phase of mitotic cell cycle|blood coagulation|cell cycle checkpoint|cell division|mitosis	nucleoplasm	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	23				all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)		TTGAAGAGGGCGATAGTCGTT	0.368000												
CD1B	910	broad.mit.edu	37	1	158298046	158298046	+	Splice_Site	SNP	A	A	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:158298046A>T	uc001frx.3	-	6	1089	c.981_splice	c.e6-1	p.R327_splice	CD1B_uc001frw.3_Splice_Site_p.R272_splice	NM_001764	NP_001755	P29016	CD1B_HUMAN	Homo sapiens CD1b molecule (CD1B), mRNA.	327					antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					TTCTGATATGACCTGTTAAAA	0.368000												
KDM5C	8242	broad.mit.edu	37	X	53247024	53247024	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:53247024C>T	uc004drz.3	-	3	1009	c.476G>A	c.(475-477)cGc>cAc	p.R159H	KDM5C_uc022bxe.1_Missense_Mutation_p.R92H|KDM5C_uc004dsa.3_Missense_Mutation_p.R159H	NM_004187	NP_004178	P41229	KDM5C_HUMAN	Homo sapiens lysine (K)-specific demethylase 5C (KDM5C), transcript variant 1, mRNA.	159	ARID.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						ATAAACAATGCGTTCGTAGTG	0.537000			"""N, F, S"""		clear cell renal carcinoma							
MYADM	91663	broad.mit.edu	37	19	54376938	54376938	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:54376938C>T	uc002qcm.3	+	2	303	c.155C>T	c.(154-156)tCg>tTg	p.S52L	MYADM_uc002qcl.3_Missense_Mutation_p.S52L|MYADM_uc002qcn.3_Missense_Mutation_p.S52L|MYADM_uc002qco.3_Missense_Mutation_p.S52L|MYADM_uc002qcp.3_Missense_Mutation_p.S52L|MYADM_uc021vbb.1_Missense_Mutation_p.S52L	NM_138373	NP_612382	Q96S97	MYADM_HUMAN	Homo sapiens myeloid-associated differentiation marker (MYADM), transcript variant 2, mRNA.	52	MARVEL 1.					integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		GTGGCCTTCTCGCTGGTGGCT	0.657000											OREG0003650	type=REGULATORY REGION|Gene=MYADM|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay
TRANK1	9881	broad.mit.edu	37	3	36873314	36873314	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:36873314C>T	uc003cgj.3	-	20	7876	c.7628G>A	c.(7627-7629)cGc>cAc	p.R2543H		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2543					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CCGGAAGTGGCGATACAGGAG	0.592000												
PREB	10113	broad.mit.edu	37	2	27354540	27354540	+	Splice_Site	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:27354540G>A	uc002rix.1	-	8	1412	c.1159_splice	c.e8+1	p.R387_splice	PREB_uc002riy.1_Splice_Site_p.R315_splice	NM_013388	NP_037520	Q9HCU5	PREB_HUMAN	Homo sapiens prolactin regulatory element binding (PREB), mRNA.	387					COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|nucleus	DNA binding|guanyl-nucleotide exchange factor activity|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AATGACTCACGCCGTGAGGGC	0.602000												
DDX56	54606	broad.mit.edu	37	7	44611252	44611252	+	Silent	SNP	G	G	A	rs150750277		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:44611252G>A	uc003tlg.3	-	5	1372	c.729C>T	c.(727-729)gaC>gaT	p.D243D	DDX56_uc003tlh.3_Non-coding_Transcript|DDX56_uc010kyg.3_Silent_p.D243D|DDX56_uc010kyh.1_Non-coding_Transcript	NM_019082	NP_061955	Q9NY93	DDX56_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 56 (DDX56), mRNA.	243	Helicase C-terminal.				rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|identical protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						GGAGGAATTTGTCTTCCTCAG	0.527000												
C12orf42	374470	broad.mit.edu	37	12	103699756	103699756	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:103699756A>T	uc001tjt.2	-	4	715	c.627T>A	c.(625-627)aaT>aaA	p.N209K	C12orf42_uc001tjs.3_Intron|C12orf42_uc009zuf.1_Missense_Mutation_p.N209K|C12orf42_uc001tju.2_Missense_Mutation_p.N114K	NM_198521	NP_940923	Q96LP6	CL042_HUMAN	Homo sapiens chromosome 12 open reading frame 42 (C12orf42), transcript variant 1, mRNA.	209										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						ACTTACCAGAATTTTTCTTGG	0.418000												
MUC16	94025	broad.mit.edu	37	19	9047264	9047264	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:9047264G>A	uc002mkp.3	-	4	34571	c.34367C>T	c.(34366-34368)gCa>gTa	p.A11456V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11458	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						CATCTTTGATGCACCAGGGGA	0.498000												
TRIM2	23321	broad.mit.edu	37	4	154215584	154215584	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:154215584C>T	uc003inh.2	+	4	818	c.733C>T	c.(733-735)Cgc>Tgc	p.R245C	TRIM2_uc003ing.2_Missense_Mutation_p.R218C	NM_015271	NP_056086	Q9C040	TRIM2_HUMAN	Homo sapiens tripartite motif containing 2 (TRIM2), transcript variant 1, mRNA.	218						cytoplasm	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		TTTAAATGTGCGCAAGAGTGT	0.423000												
PLD2	5338	broad.mit.edu	37	17	4718853	4718853	+	Missense_Mutation	SNP	C	C	T	rs143765886	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:4718853C>T	uc002fzc.3	+	12	1382	c.1256C>T	c.(1255-1257)gCg>gTg	p.A419V	PLD2_uc010vsj.2_Missense_Mutation_p.A276V|PLD2_uc002fzd.3_Missense_Mutation_p.A419V	NM_002663	NP_002654	O14939	PLD2_HUMAN	Homo sapiens phospholipase D2 (PLD2), transcript variant 1, mRNA.	419					cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	AGCAAGAGGGCGCTGATGCTG	0.577000											OREG0024105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ABCA10	10349	broad.mit.edu	37	17	67212456	67212456	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:67212456A>G	uc010dfa.1	-	7	1453	c.574T>C	c.(574-576)Tcc>Ccc	p.S192P	ABCA10_uc010wqt.1_Non-coding_Transcript|ABCA10_uc010dfb.1_5'Flank|ABCA10_uc010dfc.1_Missense_Mutation_p.S84P	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 10 (ABCA10), mRNA.	192					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					ATAAAAATGGACATAATGAAG	0.373000												
OR6K6	128371	broad.mit.edu	37	1	158725144	158725144	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:158725144G>A	uc001fsw.1	+	0	539	c.539G>A	c.(538-540)gGc>gAc	p.G180D		NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 6 (OR6K6), mRNA.	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					TGCTTTTGTGGCTTCCTCCTT	0.478000												
IL3RA	3563	broad.mit.edu	37	X	1471219	1471219	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:1471219C>T	uc004cps.3	+	5	785	c.436C>T	c.(436-438)Cgt>Tgt	p.R146C	CRLF2_uc022brt.1_Intron|IL3RA_uc011mhd.2_Missense_Mutation_p.R68C	NM_002183	NP_002174	P26951	IL3RA_HUMAN	Homo sapiens interleukin 3 receptor, alpha (low affinity) (IL3RA), mRNA.	146						integral to membrane|plasma membrane	interleukin-3 receptor activity			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CCGCAGCAGGCGTCAACAGTA	0.597000												
WIPI1	55062	broad.mit.edu	37	17	66431771	66431771	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:66431771G>A	uc010dey.3	-	5	702	c.611C>T	c.(610-612)gCg>gTg	p.A204V	WIPI1_uc010wqo.2_Missense_Mutation_p.A122V	NM_017983	NP_060453	Q5MNZ9	WIPI1_HUMAN	Homo sapiens WD repeat domain, phosphoinositide interacting 1 (WIPI1), mRNA.	204					macroautophagy|vesicle targeting, trans-Golgi to endosome	PAS complex|autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding	p.A204V(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						TTTTTCAGACGCACTTGCTAG	0.517000											OREG0024688	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
KDM5B	10765	broad.mit.edu	37	1	202746175	202746175	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:202746175C>T	uc009xag.3	-	1	368	c.252G>A	c.(250-252)acG>acA	p.T84T	KDM5B_uc001gyf.3_Silent_p.T84T|KDM5B_uc001gyg.1_5'UTR	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	Homo sapiens lysine (K)-specific demethylase 5B (KDM5B), mRNA.	84					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						GGATACGTGGCGTAAAATGAA	0.378000												
PROCR	10544	broad.mit.edu	37	20	33764049	33764049	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:33764049C>A	uc002xbt.3	+	2	585	c.401C>A	c.(400-402)gCt>gAt	p.A134D	EDEM2_uc010zuv.1_Intron	NM_006404	NP_006395	Q9UNN8	EPCR_HUMAN	Homo sapiens protein C receptor, endothelial (PROCR), mRNA.	134					antigen processing and presentation|blood coagulation|immune response	MHC class I protein complex|integral to plasma membrane	receptor activity			breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	TTCGAAGTGGCTGTGAATGGG	0.602000												
FLNB	2317	broad.mit.edu	37	3	58129201	58129201	+	Splice_Site	SNP	A	A	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:58129201A>T	uc003djj.2	+	32	5450	c.5285_splice	c.e32-1	p.G1762_splice	FLNB_uc010hne.2_Splice_Site_p.G1793_splice|FLNB_uc003djk.2_Splice_Site_p.G1751_splice|FLNB_uc010hnf.2_Splice_Site_p.G1738_splice|FLNB_uc003djl.2_Splice_Site_p.G1582_splice|FLNB_uc003djm.2_Splice_Site_p.G1569_splice	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	1762					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GCTCCATAGGAGAGGTCCACA	0.547000												
CNOT2	4848	broad.mit.edu	37	12	70735907	70735907	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:70735907C>T	uc001svv.3	+	11	1781	c.1199C>T	c.(1198-1200)gCg>gTg	p.A400V	CNOT2_uc009zro.3_Missense_Mutation_p.A400V|CNOT2_uc009zrp.3_Missense_Mutation_p.A380V|CNOT2_uc009zrq.3_Missense_Mutation_p.A400V|CNOT2_uc001svw.1_Missense_Mutation_p.A140V	NM_014515	NP_055330	Q9NZN8	CNOT2_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 2 (CNOT2), transcript variant 2, mRNA.	400					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	RNA polymerase II transcription cofactor activity|protein binding	p.A400V(2)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			CCCAAATTTGCGTCACCCTGG	0.343000												
GPC6	10082	broad.mit.edu	37	13	94958286	94958286	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:94958286G>A	uc001vlt.3	+	5	1693	c.1061G>A	c.(1060-1062)cGc>cAc	p.R354H	GPC6_uc010tig.1_Missense_Mutation_p.R354H	NM_005708	NP_005699	Q9Y625	GPC6_HUMAN	Homo sapiens glypican 6 (GPC6), mRNA.	354						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				AGATCTGCCCGCTCAGCTCCT	0.478000												
HIST1H2BN	8341	broad.mit.edu	37	6	27806762	27806762	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:27806762C>T	uc003nju.1	+	0	384	c.323C>T	c.(322-324)gCc>gTc	p.A108V	HIST1H2AK_uc003njs.3_5'Flank|HIST1H2BN_uc003njt.1_Non-coding_Transcript|HIST1H2BN_uc003njv.3_Missense_Mutation_p.A108V	NM_003520	NP_003511	Q99877	H2B1N_HUMAN	Homo sapiens histone cluster 1, H2bn (HIST1H2BN), mRNA.	108					nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(3)|lung(3)|prostate(1)	8						GGGGAGCTGGCCAAGCACGCG	0.677000												
GUCY1A2	2977	broad.mit.edu	37	11	106558464	106558464	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:106558464T>A	uc009yxn.1	-	8	2493	c.2103A>T	c.(2101-2103)gaA>gaT	p.E701D	GUCY1A2_uc001pjg.1_Missense_Mutation_p.E670D|GUCY1A2_uc010rvo.1_Missense_Mutation_p.E691D	NM_000855	NP_000846	P33402	GCYA2_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 2 (GUCY1A2), transcript variant 2, mRNA.	670					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		ATGTGAAACTTTCTTCTCGTT	0.403000												
DCAF5	8816	broad.mit.edu	37	14	69521638	69521638	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:69521638G>A	uc001xkp.3	-	8	1984	c.1765C>T	c.(1765-1767)Cgc>Tgc	p.R589C	DCAF5_uc001xkq.3_Missense_Mutation_p.R588C	NM_003861	NP_003852	Q96JK2	DCAF5_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 5 (DCAF5), nuclear gene encoding mitochondrial protein, mRNA.	589						CUL4 RING ubiquitin ligase complex				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						TTCTGTCGGCGCCGCATGGCA	0.542000												
CYP2C19	1557	broad.mit.edu	37	10	96540303	96540303	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:96540303G>A	uc010qnz.2	+	3	529	c.529G>A	c.(529-531)Gtg>Atg	p.V177M	CYP2C19_uc009xus.1_Missense_Mutation_p.V42M|CYP2C19_uc010qny.2_Missense_Mutation_p.V155M	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	177					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	TCCCTGCAATGTGATCTGCTC	0.348000												
ADRBK2	157	broad.mit.edu	37	22	26110386	26110386	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:26110386C>T	uc003abx.4	+	17	1650	c.1503C>T	c.(1501-1503)tgC>tgT	p.C501C	ADRBK2_uc003abw.2_Silent_p.C388C|ADRBK2_uc003aby.4_Non-coding_Transcript	NM_005160	NP_005151	P35626	ARBK2_HUMAN	Homo sapiens adrenergic, beta, receptor kinase 2 (ADRBK2), mRNA.	501	AGC-kinase C-terminal.						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	TACTTGATTGCGACCAAGAAC	0.398000												
HRNR	388697	broad.mit.edu	37	1	152188001	152188001	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:152188001C>A	uc001ezt.1	-	2	6180	c.6104G>T	c.(6103-6105)aGc>aTc	p.S2035I		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	2035					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGACCTGAGCTAGCTCCATG	0.572000												
COL14A1	7373	broad.mit.edu	37	8	121228677	121228677	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:121228677T>C	uc003yox.3	+	13	1950	c.1685T>C	c.(1684-1686)aTc>aCc	p.I562T	COL14A1_uc003yoy.3_Missense_Mutation_p.I240T|COL14A1_uc010mde.1_Missense_Mutation_p.I240T	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	562	Fibronectin type-III 4.				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)			TCAAGACAGATCAATGGTTAT	0.408000												
MYBPC1	4604	broad.mit.edu	37	12	102025861	102025861	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:102025861C>T	uc001tii.3	+	5	566	c.426C>T	c.(424-426)tgC>tgT	p.C142C	MYBPC1_uc001tif.2_Silent_p.C155C|MYBPC1_uc001tig.3_Silent_p.C167C|MYBPC1_uc010svr.2_Silent_p.C142C|MYBPC1_uc010svs.2_Silent_p.C142C|MYBPC1_uc001tij.3_Silent_p.C142C|MYBPC1_uc010svt.2_Silent_p.C130C|MYBPC1_uc010svu.2_Silent_p.C142C|MYBPC1_uc001tik.3_Silent_p.C116C|MYBPC1_uc001tih.3_Silent_p.C167C|MYBPC1_uc010svq.2_Silent_p.C129C	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	Homo sapiens myosin binding protein C, slow type (MYBPC1), transcript variant 3, mRNA.	142	Ig-like C2-type 1.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding	p.C167C(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						ATTACAGATGCGAGGTCACCT	0.393000												
ANKRD26	22852	broad.mit.edu	37	10	27301829	27301829	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:27301829C>T	uc009xku.1	-	31	5107	c.4935G>A	c.(4933-4935)atG>atA	p.M1645I	ANKRD26_uc001itg.2_Missense_Mutation_p.M1331I|ANKRD26_uc001ith.2_Missense_Mutation_p.M1644I	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN	Homo sapiens ankyrin repeat domain 26 (ANKRD26), transcript variant 1, mRNA.	1644						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						AGTAGTTCTCCATGCTATTAT	0.323000												
OPRL1	4987	broad.mit.edu	37	20	62729746	62729746	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:62729746G>A	uc002yic.3	+	4	1126	c.707G>A	c.(706-708)aGc>aAc	p.S236N	OPRL1_uc002yid.3_Missense_Mutation_p.S236N|OPRL1_uc021wgs.1_Missense_Mutation_p.S236N|OPRL1_uc002yif.4_Missense_Mutation_p.S231N	NM_182647	NP_872588	P41146	OPRX_HUMAN	Homo sapiens opiate receptor-like 1 (OPRL1), transcript variant 1, mRNA.	236					elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	X-opioid receptor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					GTCTGCTACAGCCTCATGATC	0.622000												
WLS	79971	broad.mit.edu	37	1	68659743	68659743	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:68659743A>C	uc001dee.3	-	1	570	c.268T>G	c.(268-270)Ttt>Gtt	p.F90V	GNG12-AS1_uc001deb.2_Intron|GNG12-AS1_uc001dec.2_Intron|WLS_uc001def.2_Missense_Mutation_p.F92V|WLS_uc001deg.2_Intron|WLS_uc001deh.2_Missense_Mutation_p.F92V|WLS_uc009wbf.1_Missense_Mutation_p.F47V|WLS_uc021oor.1_Missense_Mutation_p.F47V	NM_001002292	NP_001002292	Q5T9L3	WLS_HUMAN	Homo sapiens wntless homolog (Drosophila) (WLS), transcript variant 2, mRNA.	92					Wnt receptor signaling pathway|multicellular organismal development|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of canonical Wnt receptor signaling pathway	Golgi membrane|cytoplasmic vesicle membrane|integral to membrane	signal transducer activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						TGAACAGAAAACACGATGTCA	0.463000												
RTTN	25914	broad.mit.edu	37	18	67860572	67860572	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:67860572C>T	uc002lkp.2	-	7	1027	c.959G>A	c.(958-960)gGc>gAc	p.G320D	RTTN_uc002lko.2_Non-coding_Transcript|RTTN_uc010xfb.1_5'UTR|RTTN_uc002lkq.1_Missense_Mutation_p.G320D	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	Homo sapiens rotatin (RTTN), mRNA.	320							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				GGGTCGCTGGCCTGTGCGCCC	0.542000												
SELL	6402	broad.mit.edu	37	1	169672454	169672454	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:169672454C>A	uc010pls.2	-	3	862	c.753G>T	c.(751-753)aaG>aaT	p.K251N	C1orf112_uc001ggj.3_Intron|SELL_uc001ggk.3_Missense_Mutation_p.K311N|SELL_uc001ggl.2_Missense_Mutation_p.K311N	NM_000655	NP_000646	P14151	LYAM1_HUMAN	Homo sapiens selectin L (SELL), transcript variant 1, mRNA.	298	Sushi 1.				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	integral to plasma membrane	glycosphingolipid binding|heparin binding|protease binding|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					TGGTTTTCTTCTTCCCAATTA	0.423000												
SYNE1	23345	broad.mit.edu	37	6	152841620	152841620	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:152841620C>T	uc021zhb.1	-	3	506	c.283G>A	c.(283-285)Gca>Aca	p.A95T	SYNE1_uc003qot.4_Missense_Mutation_p.A95T|SYNE1_uc003qou.4_Missense_Mutation_p.A95T|SYNE1_uc010kjb.1_Missense_Mutation_p.A95T|SYNE1_uc003qpa.1_Missense_Mutation_p.A95T	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	95	Actin-binding.|CH 1.				Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AACTTGAGTGCCGTGCCAATG	0.443000										HNSCC(10;0.0054)		
DUSP10	11221	broad.mit.edu	37	1	221912575	221912575	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:221912575C>T	uc001hmy.2	-	1	749	c.512G>A	c.(511-513)gGc>gAc	p.G171D	DUSP10_uc001hmx.2_5'Flank|DUSP10_uc001hmz.2_Intron	NM_007207	NP_009138	Q9Y6W6	DUS10_HUMAN	Homo sapiens dual specificity phosphatase 10 (DUSP10), transcript variant 1, mRNA.	171	Rhodanese.				JNK cascade|inactivation of MAPK activity|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		GATGACAGGGCCCTGACTCGG	0.517000												
LGR6	59352	broad.mit.edu	37	1	202270002	202270002	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:202270002G>A	uc001gxu.3	+	7	811	c.811G>A	c.(811-813)Gcc>Acc	p.A271T	LGR6_uc001gxv.3_Missense_Mutation_p.A219T|LGR6_uc009xab.3_Non-coding_Transcript|LGR6_uc001gxw.3_Missense_Mutation_p.A132T|LGR6_uc009xac.1_Non-coding_Transcript	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 6 (LGR6), transcript variant 1, mRNA.	271						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						CAACATCAAGGCCATCCCAGA	0.502000												
DOCK7	85440	broad.mit.edu	37	1	63113777	63113777	+	Splice_Site	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:63113777C>T	uc001daq.3	-	6	766	c.732_splice	c.e6+1	p.E244_splice	DOCK7_uc001dan.3_Splice_Site_p.E136_splice|DOCK7_uc001dao.3_Splice_Site_p.E136_splice|DOCK7_uc001dap.3_Splice_Site_p.E244_splice|DOCK7_uc009wah.1_Splice_Site_p.E244_splice	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	Homo sapiens dedicator of cytokinesis 7 (DOCK7), mRNA.	244					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|Rac GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						ACATCTATACCTCATCTGGTG	0.323000												
BSN	8927	broad.mit.edu	37	3	49699714	49699714	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:49699714C>T	uc003cxe.4	+	5	10550	c.10436C>T	c.(10435-10437)gCg>gTg	p.A3479V		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	3479					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CTTCAAAAAGCGGGCCCCAAG	0.627000												
MUM1L1	139221	broad.mit.edu	37	X	105450135	105450135	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:105450135C>T	uc022cca.1	+	0	710	c.710C>T	c.(709-711)gCt>gTt	p.A237V	MUM1L1_uc004emg.2_Missense_Mutation_p.A237V|MUM1L1_uc004emf.2_Missense_Mutation_p.A237V	NM_001171020	NP_001164491	Q5H9M0	MUML1_HUMAN	Homo sapiens melanoma associated antigen (mutated) 1-like 1 (MUM1L1), transcript variant 1, mRNA.	237										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						GAAAAGTTTGCTCCACCTTTG	0.418000												
KDM6B	23135	broad.mit.edu	37	17	7751760	7751760	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:7751760C>T	uc002gix.3	+	0	897	c.60C>T	c.(58-60)ggC>ggT	p.G20G	KDM6B_uc002giw.1_Silent_p.G718G	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN	Homo sapiens lysine (K)-specific demethylase 6B (KDM6B), mRNA.	718					inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						ACGAAGCAGGCGTGGCCCCCC	0.582000												
DDAH2	23564	broad.mit.edu	37	6	31695064	31695064	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:31695064C>T	uc003nwp.3	-	5	1439	c.808G>A	c.(808-810)Gcc>Acc	p.A270T	DDAH2_uc003nwq.3_Missense_Mutation_p.A270T	NM_013974	NP_039268	O95865	DDAH2_HUMAN	Homo sapiens dimethylarginine dimethylaminohydrolase 2 (DDAH2), mRNA.	270					anti-apoptosis|arginine catabolic process|citrulline metabolic process|nitric oxide biosynthetic process|nitric oxide mediated signal transduction	cytoplasm	dimethylargininase activity|protein binding			endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	11					L-Citrulline(DB00155)	CTGAGCCCGGCGCCAGCCTTC	0.617000												
LRP2	4036	broad.mit.edu	37	2	170058336	170058336	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:170058336G>A	uc002ues.3	-	43	8467	c.8254C>T	c.(8254-8256)Cga>Tga	p.R2752*		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	2752	LDL-receptor class A 17.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TGGACACATCGCCCATTGGCA	0.478000												
GMPS	8833	broad.mit.edu	37	3	155639982	155639982	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:155639982G>A	uc003faq.3	+	10	1660	c.1325G>A	c.(1324-1326)gGc>gAc	p.G442D	GMPS_uc011bom.2_Missense_Mutation_p.G343D	NM_003875	NP_003866	P49915	GUAA_HUMAN	Homo sapiens guanine monphosphate synthetase (GMPS), mRNA.	442					glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity	p.G442G(1)		breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TTAGGTCCTGGCCTGGCAATC	0.284000			T	MLL	AML							
C14orf101	54916	broad.mit.edu	37	14	57085368	57085368	+	Silent	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:57085368T>C	uc001xcm.3	+	9	1235	c.1113T>C	c.(1111-1113)ggT>ggC	p.G371G	C14orf101_uc001xcj.3_Non-coding_Transcript|C14orf101_uc001xcl.1_Non-coding_Transcript|C14orf101_uc001xcn.3_Non-coding_Transcript|C14orf101_uc010trf.2_5'UTR|C14orf101_uc001xco.3_5'UTR	NM_017799	NP_060269	Q9NX78	CN101_HUMAN	Homo sapiens chromosome 14 open reading frame 101 (C14orf101), mRNA.	371						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(311;0.226)		CTGGCATTGGTTTGGCTGCAG	0.468000												
NCKAP5	344148	broad.mit.edu	37	2	133547759	133547759	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:133547759T>C	uc002ttp.3	-	12	1303	c.929A>G	c.(928-930)aAa>aGa	p.K310R	NCKAP5_uc002ttq.3_Missense_Mutation_p.K310R	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	310							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CAAGGCCGATTTTGTATTTAG	0.483000												
NUP210	23225	broad.mit.edu	37	3	13381431	13381431	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:13381431C>T	uc003bxv.1	-	24	3477	c.3394G>A	c.(3394-3396)Gcc>Acc	p.A1132T		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	Homo sapiens nucleoporin 210kDa (NUP210), mRNA.	1132					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TTCCCGATGGCGAGGCCCTGT	0.617000												
EPB41L1	2036	broad.mit.edu	37	20	34773105	34773105	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:34773105G>A	uc002xfb.3	+	6	804	c.633G>A	c.(631-633)acG>acA	p.T211T	EPB41L1_uc002xeu.3_Silent_p.T149T|EPB41L1_uc010zvo.1_Silent_p.T211T|EPB41L1_uc002xev.3_Silent_p.T211T|EPB41L1_uc002xew.3_Silent_p.T114T|EPB41L1_uc002xex.3_Silent_p.T180T|EPB41L1_uc002xey.3_Intron|EPB41L1_uc002xez.3_Silent_p.T149T	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 1 (EPB41L1), transcript variant 1, mRNA.	211	FERM.				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					CCTTTGTCACGCATGCCCTAC	0.612000												
FBN2	2201	broad.mit.edu	37	5	127685073	127685073	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:127685073G>A	uc003kuu.3	-	22	3394	c.2955C>T	c.(2953-2955)ggC>ggT	p.G985G	FBN2_uc003kuv.2_Silent_p.G952G	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	985	EGF-like 14; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CCAACGTAAGGCCTTCAGGGC	0.458000												
ZNF335	63925	broad.mit.edu	37	20	44592274	44592274	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:44592274C>T	uc002xqw.3	-	8	1494	c.1371G>A	c.(1369-1371)tcG>tcA	p.S457S	ZNF335_uc010zxk.2_Silent_p.S302S	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN	Homo sapiens zinc finger protein 335 (ZNF335), mRNA.	457					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				GTGGTTTGGGCGACTTGTAAT	0.577000												
PWP2	5822	broad.mit.edu	37	21	45534069	45534069	+	Missense_Mutation	SNP	C	C	T	rs151259638		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr21:45534069C>T	uc002zeb.3	+	3	326	c.236C>T	c.(235-237)gCg>gTg	p.A79V		NM_005049	NP_005040	Q15269	PWP2_HUMAN	Homo sapiens PWP2 periodic tryptophan protein homolog (yeast) (PWP2), mRNA.	79						cytoplasm|nucleolus	signal transducer activity			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		GGGGGCGATGCGCTGCTGGTC	0.617000											OREG0026247	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
TMPRSS13	84000	broad.mit.edu	37	11	117787928	117787928	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:117787928G>A	uc001prs.2	-	2	659	c.513C>T	c.(511-513)tgC>tgT	p.C171C	TMPRSS13_uc009yzr.2_Intron|TMPRSS13_uc021qrc.1_Silent_p.C171C|TMPRSS13_uc001prt.1_5'UTR|TMPRSS13_uc001pru.2_Silent_p.C171C	NM_001077263	NP_001070731	Q9BYE2	TMPSD_HUMAN	Homo sapiens transmembrane protease, serine 13 (TMPRSS13), transcript variant 1, mRNA.	166					proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		GGAGGAGCACGCACCCGATGA	0.627000												
CD5	921	broad.mit.edu	37	11	60889151	60889151	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:60889151C>T	uc009ynk.3	+	5	977	c.874C>T	c.(874-876)Cgc>Tgc	p.R292C		NM_014207	NP_055022	P06127	CD5_HUMAN	Homo sapiens CD5 molecule (CD5), mRNA.	292	SRCR 3.				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		CGTGGAGGTGCGCCAGGGGGC	0.657000												
DCST1	149095	broad.mit.edu	37	1	155014205	155014205	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:155014205C>T	uc001fgn.2	+	7	878	c.764C>T	c.(763-765)gCc>gTc	p.A255V	DCST1_uc010per.2_Missense_Mutation_p.A280V|DCST1_uc010pes.2_Missense_Mutation_p.A230V	NM_152494	NP_689707	Q5T197	DCST1_HUMAN	Homo sapiens DC-STAMP domain containing 1 (DCST1), transcript variant 1, mRNA.	255						integral to membrane	zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GTGAACCAGGCCATACTCAGC	0.577000												
LMO7	4008	broad.mit.edu	37	13	76379754	76379754	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:76379754C>T	uc021rkq.1	+	8	1389	c.1054C>T	c.(1054-1056)Cgc>Tgc	p.R352C	LMO7_uc010thv.2_Intron|LMO7_uc001vjt.1_Intron|LMO7_uc001vjv.3_Missense_Mutation_p.R119C|LMO7_uc010thw.2_Intron|LMO7_uc001vjw.1_Intron	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.	404						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TCTTTATGTGCGCAAGCTCAG	0.413000												
PPP1R10	5514	broad.mit.edu	37	6	30569937	30569937	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:30569937C>T	uc003nqn.1	-	18	3041	c.2489G>A	c.(2488-2490)cGc>cAc	p.R830H	PPP1R10_uc010jsc.1_Missense_Mutation_p.R484H	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 10 (PPP1R10), mRNA.	830	Gly-rich.				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|RNA binding|protein phosphatase inhibitor activity|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						TTCGTGGGGGCGATGTCCACC	0.677000												
FARP2	9855	broad.mit.edu	37	2	242375909	242375909	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:242375909A>G	uc002wbi.2	+	11	1278	c.1114A>G	c.(1114-1116)Acc>Gcc	p.T372A	FARP2_uc010zoq.2_Missense_Mutation_p.T372A|FARP2_uc010zor.2_Missense_Mutation_p.T372A	NM_014808	NP_055623	O94887	FARP2_HUMAN	Homo sapiens FERM, RhoGEF and pleckstrin domain protein 2 (FARP2), mRNA.	372					Rac protein signal transduction|axon guidance|neuron remodeling|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	Rho guanyl-nucleotide exchange factor activity|cytoskeletal protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		GCACAGCAAGACCCACACGTC	0.512000												
OSBPL3	26031	broad.mit.edu	37	7	24839866	24839866	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:24839866C>T	uc003sxf.3	-	22	3005	c.2600G>A	c.(2599-2601)gGc>gAc	p.G867D	OSBPL3_uc003sxd.3_Non-coding_Transcript|OSBPL3_uc003sxe.3_Non-coding_Transcript|OSBPL3_uc003sxg.3_Missense_Mutation_p.G831D|OSBPL3_uc003sxh.3_Missense_Mutation_p.G836D|OSBPL3_uc003sxi.3_Missense_Mutation_p.G800D	NM_015550	NP_056365	Q9H4L5	OSBL3_HUMAN	Homo sapiens oxysterol binding protein-like 3 (OSBPL3), transcript variant 1, mRNA.	867					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						CAAATAGGTGCCGTTGCTCAC	0.388000												
RP1L1	94137	broad.mit.edu	37	8	10464545	10464545	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:10464545C>T	uc003wtc.3	-	3	7292	c.7063G>A	c.(7063-7065)Gcc>Acc	p.A2355T		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	2355					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCCAAAGGGGCCTCTTCTTGC	0.587000												
ABCA13	154664	broad.mit.edu	37	7	48318199	48318199	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:48318199G>A	uc003toq.2	+	17	7432	c.7408G>A	c.(7408-7410)Gca>Aca	p.A2470T	ABCA13_uc010kys.1_5'Flank	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	2470					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AAGAAACAGAGCAACATTAGA	0.373000												
CPXM2	119587	broad.mit.edu	37	10	125528124	125528124	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:125528124C>T	uc001lhk.1	-	8	1542	c.1217G>A	c.(1216-1218)cGc>cAc	p.R406H	CPXM2_uc001lhj.3_Non-coding_Transcript	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA.	406					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	p.R406C(1)		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)		GTGGACGATGCGCGCATTCCG	0.647000												
GCM2	9247	broad.mit.edu	37	6	10875058	10875058	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:10875058G>A	uc003mzn.4	-	4	763	c.691C>T	c.(691-693)Cct>Tct	p.P231S	SYCP2L_uc011dim.1_Intron	NM_004752	NP_004743	O75603	GCM2_HUMAN	Homo sapiens glial cells missing homolog 2 (Drosophila) (GCM2), mRNA.	231					cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				GAAGGGCAAGGCTGCCCTGGA	0.458000												
ARHGAP20	57569	broad.mit.edu	37	11	110451712	110451712	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:110451712C>T	uc001pkz.1	-	15	2243	c.1958G>A	c.(1957-1959)cGg>cAg	p.R653Q	ARHGAP20_uc001pky.1_Missense_Mutation_p.R630Q|ARHGAP20_uc009yyb.1_Missense_Mutation_p.R617Q|ARHGAP20_uc001pla.1_Missense_Mutation_p.R617Q|ARHGAP20_uc001plb.2_Missense_Mutation_p.R196Q	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN	Homo sapiens Rho GTPase activating protein 20 (ARHGAP20), mRNA.	653					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		TTCAAGAGGCCGTTTCATTTG	0.502000												
TIPARP	25976	broad.mit.edu	37	3	156396186	156396186	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:156396186A>C	uc003fav.3	+	1	1122	c.700A>C	c.(700-702)Act>Cct	p.T234P	TIPARP-AS1_uc011boq.2_5'Flank|TIPARP_uc003faw.3_Missense_Mutation_p.T234P|TIPARP_uc021xgg.1_Missense_Mutation_p.T234P	NM_015508	NP_056323	Q7Z3E1	PARPT_HUMAN	Homo sapiens TCDD-inducible poly(ADP-ribose) polymerase (TIPARP), transcript variant 2, mRNA.	234							NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			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)			GCAGTACCACACTCACCAAGA	0.463000												
CCDC37	348807	broad.mit.edu	37	3	126153218	126153218	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:126153218G>A	uc010hsg.1	+	13	1684	c.1625G>A	c.(1624-1626)cGc>cAc	p.R542H	CCDC37_uc003eiu.1_Missense_Mutation_p.R541H	NM_182628	NP_872434	Q494V2	CCD37_HUMAN	Homo sapiens coiled-coil domain containing 37 (CCDC37), mRNA.	541										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		AAGGAGCGGCGCATCAGGTGA	0.622000												
TACR3	6870	broad.mit.edu	37	4	104640294	104640294	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:104640294G>A	uc003hxe.1	-	0	680	c.539C>T	c.(538-540)gCg>gTg	p.A180V		NM_001059	NP_001050	P29371	NK3R_HUMAN	Homo sapiens tachykinin receptor 3 (TACR3), mRNA.	180						integral to plasma membrane	tachykinin receptor activity	p.A180V(2)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		CCTGTCCACCGCAATGGCCGT	0.498000												
DNAH8	1769	broad.mit.edu	37	6	38840404	38840404	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:38840404G>A	uc021yzh.1	+	49	7192	c.7083G>A	c.(7081-7083)gcG>gcA	p.A2361A	DNAH8_uc003ooe.2_Silent_p.A2144A	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											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						TAATGAAGGCGCAAACAGAAT	0.463000												
COL4A6	1288	broad.mit.edu	37	X	107422584	107422584	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:107422584C>T	uc004enw.4	-	25	2322	c.2219G>A	c.(2218-2220)aGt>aAt	p.S740N	COL4A6_uc004env.4_Missense_Mutation_p.S739N|COL4A6_uc011msn.2_Missense_Mutation_p.S739N|COL4A6_uc010npk.3_Missense_Mutation_p.S739N	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	740	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	p.P740S(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TAAGCCTGGACTGCCAATCAT	0.542000									Alport syndrome with Diffuse Leiomyomatosis			
SCN9A	6335	broad.mit.edu	37	2	167133677	167133677	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:167133677C>T	uc010fpl.3	-	15	2998	c.2657G>A	c.(2656-2658)tGc>tAc	p.C886Y	BC051759_uc002udp.3_Non-coding_Transcript	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	897						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	ATTGATCTTGCAGACACATTC	0.502000												
PLA2G3	50487	broad.mit.edu	37	22	31533804	31533804	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:31533804G>A	uc003aka.3	-	3	1087	c.958C>T	c.(958-960)Cgc>Tgc	p.R320C		NM_015715	NP_056530	Q9NZ20	PA2G3_HUMAN	Homo sapiens phospholipase A2, group III (PLA2G3), mRNA.	320					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						TTGCTGGGGCGCTTGGACCCT	0.657000												
TCOF1	6949	broad.mit.edu	37	5	149775932	149775932	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:149775932C>T	uc003lry.3	+	23	3977	c.3869C>T	c.(3868-3870)gCg>gTg	p.A1290V	TCOF1_uc003lrz.3_Missense_Mutation_p.A1252V|TCOF1_uc011dch.2_Missense_Mutation_p.A1253V|TCOF1_uc003lrx.3_Missense_Mutation_p.A1214V|TCOF1_uc003lsa.3_Missense_Mutation_p.A1213V	NM_001135243	NP_001128715	Q13428	TCOF_HUMAN	Homo sapiens Treacher Collins-Franceschetti syndrome 1 (TCOF1), transcript variant 4, mRNA.	1290					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCAACCCTGGCGCTGCAAAGC	0.612000												
CLSPN	63967	broad.mit.edu	37	1	36203693	36203693	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:36203693C>T	uc001bzi.3	-	21	3644	c.3564G>A	c.(3562-3564)caG>caA	p.Q1188Q	CLSPN_uc009vux.3_Silent_p.Q1124Q	NM_022111	NP_071394	Q9HAW4	CLSPN_HUMAN	Homo sapiens claspin (CLSPN), transcript variant 1, mRNA.	1188					DNA repair|DNA replication|G2/M transition DNA damage checkpoint|activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	DNA binding|anaphase-promoting complex binding			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TTTTCCCCTGCTGTGCCTGAA	0.343000												
FAM118A	55007	broad.mit.edu	37	22	45726536	45726536	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:45726536G>A	uc003bfz.4	+	5	1191	c.575G>A	c.(574-576)gGc>gAc	p.G192D	FAM118A_uc003bga.4_Missense_Mutation_p.G192D|FAM118A_uc011aqr.2_Missense_Mutation_p.G10D	NM_001104595	NP_060381	Q9NWS6	F118A_HUMAN	Homo sapiens family with sequence similarity 118, member A (FAM118A), transcript variant 1, mRNA.	192						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		CACATTCACGGCCTCTACACG	0.527000												
FES	2242	broad.mit.edu	37	15	91436365	91436365	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:91436365G>A	uc002bpv.3	+	14	1981	c.1862G>A	c.(1861-1863)cGt>cAt	p.R621H	FES_uc010uqj.2_Missense_Mutation_p.R493H|FES_uc010uqk.2_Missense_Mutation_p.R603H|FES_uc002bpx.3_Missense_Mutation_p.R551H|FES_uc002bpy.3_Missense_Mutation_p.R563H|FES_uc010bny.3_Intron	NM_002005	NP_001996	P07332	FES_HUMAN	Homo sapiens feline sarcoma oncogene (FES), transcript variant 1, mRNA.	621	Protein kinase.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			AACATCGTGCGTCTCATTGGT	0.652000												
NMUR1	10316	broad.mit.edu	37	2	232393472	232393472	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:232393472C>T	uc002vry.4	-	1	370	c.260G>A	c.(259-261)cGc>cAc	p.R87H		NM_006056	NP_006047	Q9HB89	NMUR1_HUMAN	Homo sapiens neuromedin U receptor 1 (NMUR1), mRNA.	87					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity	p.L86M(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		GGCCTTGTGGCGCAGGATGAC	0.622000												
CKAP2L	150468	broad.mit.edu	37	2	113520091	113520091	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:113520091G>A	uc002tie.2	-	1	172	c.93C>T	c.(91-93)agC>agT	p.S31S	CKAP2L_uc002tif.2_5'UTR|CKAP2L_uc010yxp.1_5'UTR|CKAP2L_uc010yxq.1_Intron	NM_152515	NP_689728	Q8IYA6	CKP2L_HUMAN	Homo sapiens cytoskeleton associated protein 2-like (CKAP2L), mRNA.	31						centrosome				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						TGGTGTTTTGGCTCTTCAGTT	0.413000												
MYLIP	29116	broad.mit.edu	37	6	16143955	16143955	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:16143955G>A	uc003nbq.3	+	4	925	c.688G>A	c.(688-690)Gcc>Acc	p.A230T	MYLIP_uc003nbr.3_Missense_Mutation_p.A49T	NM_013262	NP_037394	Q8WY64	MYLIP_HUMAN	Homo sapiens myosin regulatory light chain interacting protein (MYLIP), mRNA.	230	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)			GGTGCAGATGGCCACCCAGTC	0.483000												
SYTL4	94121	broad.mit.edu	37	X	99942125	99942125	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:99942125C>T	uc004egd.4	-	12	1479	c.1123G>A	c.(1123-1125)Gtc>Atc	p.V375I	SYTL4_uc010nnb.3_Missense_Mutation_p.V47I|SYTL4_uc010nnc.3_Missense_Mutation_p.V375I|SYTL4_uc004ege.4_Missense_Mutation_p.V375I|SYTL4_uc004egf.4_Missense_Mutation_p.V375I|SYTL4_uc004egg.4_3'UTR	NM_080737	NP_542775	Q96C24	SYTL4_HUMAN	Homo sapiens synaptotagmin-like 4 (SYTL4), transcript variant 1, mRNA.	375	C2 1.				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	Rab GTPase binding|neurexin binding|phospholipid binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTCACATGGACAACCAGACTC	0.512000												
CSPG4	1464	broad.mit.edu	37	15	75968836	75968836	+	Silent	SNP	G	G	A	rs150399169		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:75968836G>A	uc002baw.3	-	9	6117	c.6024C>T	c.(6022-6024)ggC>ggT	p.G2008G		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	Homo sapiens chondroitin sulfate proteoglycan 4 (CSPG4), mRNA.	2008	Cysteine-containing.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	p.G2008G(2)		breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						AGACCACCTCGCCCTGGTCTA	0.597000												
CHD9	80205	broad.mit.edu	37	16	53358035	53358035	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:53358035C>T	uc002ehb.3	+	37	8086	c.7922C>T	c.(7921-7923)gCc>gTc	p.A2641V	CHD9_uc002egy.3_Missense_Mutation_p.A2625V|CHD9_uc002ehc.3_Missense_Mutation_p.A2626V|CHD9_uc002ehf.3_Missense_Mutation_p.A1739V|CHD9_uc002ehg.2_Missense_Mutation_p.A1756V|CHD9_uc010cbw.3_Missense_Mutation_p.A707V	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.	2641	Poly-Ala.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	p.K2641T(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				ATTGCAAAGGCCACAGCAGCA	0.512000												
VTA1	51534	broad.mit.edu	37	6	142539701	142539701	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:142539701C>T	uc003qiw.3	+	7	860	c.845C>T	c.(844-846)gCt>gTt	p.A282V	VTA1_uc011edu.2_Missense_Mutation_p.A197V	NM_016485	NP_057569	Q9NP79	VTA1_HUMAN	Homo sapiens Vps20-associated 1 homolog (S. cerevisiae) (VTA1), mRNA.	282	Interaction with VPS4B (By similarity).				cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding			endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		GCTGGCAGTGCTTTGCAGTAT	0.428000												
FMO1	2326	broad.mit.edu	37	1	171252297	171252297	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:171252297C>T	uc009wvz.3	+	7	1334	c.1198C>T	c.(1198-1200)Cca>Tca	p.P400S	FMO1_uc010pme.2_Missense_Mutation_p.P337S|FMO1_uc001ghl.3_Missense_Mutation_p.P400S|FMO1_uc001ghm.3_Missense_Mutation_p.P400S	NM_002021	NP_002012	Q01740	FMO1_HUMAN	Homo sapiens flavin containing monooxygenase 1 (FMO1), mRNA.	400					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AAATAAGTTACCACCACCAAG	0.338000												
CDC23	8697	broad.mit.edu	37	5	137527970	137527970	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:137527970G>A	uc003lcl.3	-	10	1305	c.1274C>T	c.(1273-1275)gCc>gTc	p.A425V		NM_004661	NP_004652	Q9UJX2	CDC23_HUMAN	Homo sapiens cell division cycle 23 homolog (S. cerevisiae) (CDC23), mRNA.	425					G1 phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AAGCTGGTGGGCCCGTCTATA	0.433000												
PGM3	5238	broad.mit.edu	37	6	83880190	83880190	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:83880190T>C	uc011dyz.2	-	12	1626	c.1457A>G	c.(1456-1458)gAc>gGc	p.D486G	PGM3_uc003pju.2_Missense_Mutation_p.D458G|PGM3_uc003pjw.3_Missense_Mutation_p.D377G|PGM3_uc021zcd.1_Missense_Mutation_p.D458G|DOPEY1_uc003pjt.3_Non-coding_Transcript	NM_001199917	NP_001186846	O95394	AGM1_HUMAN	Homo sapiens phosphoglucomutase 3 (PGM3), transcript variant 1, mRNA.	458					UDP-N-acetylglucosamine biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	18		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)		BRCA - Breast invasive adenocarcinoma(397;0.0478)		AACTCTCCTGTCTGCAACCTA	0.408000												
C5AR1	728	broad.mit.edu	37	19	47823356	47823356	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:47823356G>A	uc002pgj.1	+	1	371	c.322G>A	c.(322-324)Gcc>Acc	p.A108T		NM_001736	NP_001727	P21730	C5AR_HUMAN	Homo sapiens complement component 5a receptor 1 (C5AR1), mRNA.	108					activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity	p.A108T(2)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		TGGCGGGGCCGCCTGCAGCAT	0.607000												
TNS1	7145	broad.mit.edu	37	2	218751283	218751283	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:218751283C>T	uc002vgt.2	-	10	976	c.578G>A	c.(577-579)gGc>gAc	p.G193D	TNS1_uc002vgr.2_Missense_Mutation_p.G193D|TNS1_uc002vgs.2_Missense_Mutation_p.G193D|TNS1_uc010zjv.1_Missense_Mutation_p.G193D|TNS1_uc010fvj.1_Missense_Mutation_p.G261D|TNS1_uc010fvk.1_Missense_Mutation_p.G318D|TNS1_uc002vgu.3_Missense_Mutation_p.G224D|TNS1_uc010fvi.1_5'Flank	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	Homo sapiens tensin 1 (TNS1), mRNA.	193	C2 tensin-type.					cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GTTGGGGATGCCGTGCATGAT	0.522000											OREG0015188	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
KDM3A	55818	broad.mit.edu	37	2	86705832	86705832	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:86705832C>T	uc002sri.4	+	14	2617	c.2290C>T	c.(2290-2292)Cca>Tca	p.P764S	KDM3A_uc010ytj.2_Missense_Mutation_p.P764S|KDM3A_uc010ytk.2_Missense_Mutation_p.P712S	NM_018433	NP_060903	Q9Y4C1	KDM3A_HUMAN	Homo sapiens lysine (K)-specific demethylase 3A (KDM3A), transcript variant 1, mRNA.	764					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						CTTTTCAAAGCCAGCCTCAAA	0.363000												
PHC2	1912	broad.mit.edu	37	1	33840979	33840979	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:33840979C>T	uc009vuh.1	-	1	651	c.162G>A	c.(160-162)cgG>cgA	p.R54R	PHC2_uc001bxg.1_Silent_p.R54R|PHC2_uc001bxh.1_Silent_p.R54R|PHC2_uc001bxi.1_Silent_p.R54R	NM_198040	NP_932157	Q8IXK0	PHC2_HUMAN	Homo sapiens polyhomeotic homolog 2 (Drosophila) (PHC2), transcript variant 1, mRNA.	54					multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GCACGGTCTGCCGGTCTGGAA	0.557000												
IGSF3	3321	broad.mit.edu	37	1	117150721	117150721	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:117150721G>A	uc001egq.1	-	4	1770	c.1065C>T	c.(1063-1065)agC>agT	p.S355S	IGSF3_uc001egr.1_Silent_p.S355S|IGSF3_uc001egs.1_Silent_p.S28S	NM_001542	NP_001533	O75054	IGSF3_HUMAN	Homo sapiens immunoglobulin superfamily, member 3 (IGSF3), transcript variant 1, mRNA.	355	Ig-like C2-type 3.					integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		AGACACTGTCGCTCTCTTTGG	0.567000												
ACOX3	8310	broad.mit.edu	37	4	8368787	8368787	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:8368787G>A	uc010idk.3	-	17	2149	c.2004C>T	c.(2002-2004)ggC>ggT	p.G668G	ACOX3_uc003glc.4_Silent_p.G668G|ACOX3_uc003gld.4_3'UTR	NM_003501	NP_003492	O15254	ACOX3_HUMAN	Homo sapiens acyl-CoA oxidase 3, pristanoyl (ACOX3), transcript variant 1, mRNA.	668					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity	p.G668C(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						GCAGGACAGCGCCCCAGAGGT	0.478000												
DNAJC6	9829	broad.mit.edu	37	1	65851520	65851520	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:65851520G>A	uc001dce.1	+	6	1127	c.926G>A	c.(925-927)cGc>cAc	p.R309H	DNAJC6_uc001dcc.1_Missense_Mutation_p.R283H|DNAJC6_uc001dcd.1_Missense_Mutation_p.R252H|DNAJC6_uc010opc.1_Missense_Mutation_p.R239H	NM_014787	NP_055602	O75061	AUXI_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 6 (DNAJC6), mRNA.	252	C2 tensin-type.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	SH3 domain binding|heat shock protein binding|protein tyrosine phosphatase activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						AATGGATGTCGCCCTTACTGT	0.418000												
PYROXD2	84795	broad.mit.edu	37	10	100155209	100155209	+	Splice_Site	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:100155209C>T	uc001kpc.3	-	7	712	c.626_splice	c.e7-1	p.G209_splice	PYROXD2_uc001kpb.3_Splice_Site|PYROXD2_uc010qpe.2_Splice_Site_p.G209_splice|PYROXD2_uc021pwu.1_5'Flank	NM_032709	NP_116098	Q8N2H3	PYRD2_HUMAN	Homo sapiens pyridine nucleotide-disulphide oxidoreductase domain 2 (PYROXD2), mRNA.	209							oxidoreductase activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						CAGGATGCGGCCTACAAGAGA	0.557000												
KIAA0947	23379	broad.mit.edu	37	5	5464600	5464600	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:5464600C>T	uc003jdm.4	+	12	5375	c.5153C>T	c.(5152-5154)gCg>gTg	p.A1718V		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	Homo sapiens KIAA0947 (KIAA0947), mRNA.	1718	Pro-rich.									breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						CAGTTCTGTGCGGCCACGCCG	0.612000												
TANK	10010	broad.mit.edu	37	2	162081195	162081195	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:162081195G>A	uc002ubs.3	+	5	566	c.458G>A	c.(457-459)tGc>tAc	p.C153Y	TANK_uc002ubr.2_Missense_Mutation_p.C153Y	NM_001199135	NP_001186064	Q92844	TANK_HUMAN	Homo sapiens TRAF family member-associated NFKB activator (TANK), transcript variant 3, mRNA.	153						cytosol	metal ion binding|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)	21						CATAAAATATGCATGCTAGCA	0.289000												
BNC2	54796	broad.mit.edu	37	9	16552745	16552745	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:16552745G>A	uc003zml.3	-	4	592	c.452C>T	c.(451-453)aCg>aTg	p.T151M	BNC2_uc011lmw.2_Missense_Mutation_p.T56M|BNC2_uc003zmm.3_Missense_Mutation_p.T109M|BNC2_uc003zmq.1_Missense_Mutation_p.T165M|BNC2_uc003zmr.1_Missense_Mutation_p.T188M|BNC2_uc003zmp.1_Missense_Mutation_p.T179M|BNC2_uc010mij.1_Missense_Mutation_p.T73M|BNC2_uc011lmv.2_5'UTR|BNC2_uc003zmo.1_Missense_Mutation_p.T73M	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	Homo sapiens basonuclin 2 (BNC2), mRNA.	151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		CAGGTGCTGCGTGCTGAGCTT	0.517000												
GRM3	2913	broad.mit.edu	37	7	86415724	86415724	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:86415724C>T	uc003uid.3	+	2	1715	c.616C>T	c.(616-618)Cgc>Tgc	p.R206C	GRM3_uc010lef.3_Missense_Mutation_p.R204C|GRM3_uc010leg.3_Missense_Mutation_p.R78C|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	206					synaptic transmission	integral to plasma membrane		p.R206C(2)		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)	TGAGATCTTGCGCTTCTTCAA	0.577000												
TBC1D3B	414059	broad.mit.edu	37	17	34499219	34499219	+	Silent	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:34499219T>C	uc002hky.2	-	6	642	c.492A>G	c.(490-492)ggA>ggG	p.G164G	DQ571391_uc002hla.1_5'Flank|DQ593188_uc021tvb.1_5'Flank|DQ586142_uc002hlc.3_5'Flank|DQ575686_uc021tvc.1_5'Flank|DQ580080_uc021tvd.1_5'Flank	NM_001001417	NP_001001417	A6NDS4	TBC3B_HUMAN	Homo sapiens TBC1 domain family, member 3B (TBC1D3B), mRNA.	164	Rab-GAP TBC.					intracellular	Rab GTPase activator activity	p.G164*(1)		endometrium(2)|lung(3)|pancreas(1)	6		Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTTACTTGGTTCCGTATCGAT	0.577000												
SOBP	55084	broad.mit.edu	37	6	107956476	107956476	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:107956476G>A	uc003prx.3	+	5	2932	c.2428G>A	c.(2428-2430)Gcg>Acg	p.A810T		NM_018013	NP_060483	A7XYQ1	SOBP_HUMAN	Homo sapiens sine oculis binding protein homolog (Drosophila) (SOBP), mRNA.	810							metal ion binding	p.A810V(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		TAATAACCCCGCGGACGAGGA	0.647000												
A2M	2	broad.mit.edu	37	12	9229462	9229462	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:9229462C>T	uc001qvk.1	-	27	3535	c.3422G>A	c.(3421-3423)gGc>gAc	p.G1141D	A2M_uc009zgk.1_Missense_Mutation_p.G991D	NM_000014	NP_000005	P01023	A2MG_HUMAN	Homo sapiens alpha-2-macroglobulin (A2M), mRNA.	1141					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	GTPase activator activity|enzyme binding|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	TACATGGCTGCCATGGTCCCC	0.512000												
MACROD2	140733	broad.mit.edu	37	20	16030511	16030511	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:16030511G>A	uc002wou.3	+	17	1601	c.1337G>A	c.(1336-1338)gGa>gAa	p.G446E	MACROD2_uc002wot.3_Missense_Mutation_p.G423E|MACROD2_uc002woz.3_Missense_Mutation_p.G211E|MACROD2_uc002wpb.3_Missense_Mutation_p.G188E|MACROD2_uc002wpd.3_Missense_Mutation_p.G96E	NM_080676	NP_542407	A1Z1Q3	MACD2_HUMAN	Homo sapiens MACRO domain containing 2 (MACROD2), transcript variant 1, mRNA.	446										breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				CAAAGAAATGGAACTAAATGA	0.512000												
SLC13A4	26266	broad.mit.edu	37	7	135390380	135390380	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:135390380C>T	uc003vtb.3	-	4	1246	c.557G>A	c.(556-558)aGc>aAc	p.S186N	SLC13A4_uc003vta.3_Missense_Mutation_p.S186N	NM_012450	NP_036582	Q9UKG4	S13A4_HUMAN	Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 4 (SLC13A4), mRNA.	186						integral to plasma membrane	sodium:sulfate symporter activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						AGAAGGTTGGCTGTTCTTTAC	0.507000												
C12orf26	84190	broad.mit.edu	37	12	82870436	82870436	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:82870436T>A	uc001szq.3	+	9	1655	c.1586T>A	c.(1585-1587)aTt>aAt	p.I529N		NM_032230	NP_115606	Q8N6Q8	CL026_HUMAN	Homo sapiens chromosome 12 open reading frame 26 (C12orf26), mRNA.	529										breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	19						CCAGAAAAAATTATAATGAAC	0.274000												
UTP14C	9724	broad.mit.edu	37	13	52603935	52603935	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:52603935T>C	uc001vgb.3	+	1	1557	c.995T>C	c.(994-996)cTg>cCg	p.L332P	UTP14C_uc001vga.3_3'UTR|UTP14C_uc001vgc.3_Non-coding_Transcript|UTP14C_uc021rjw.1_Missense_Mutation_p.L332P	NM_021645	NP_067677	Q5TAP6	UT14C_HUMAN	Homo sapiens UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) (UTP14C), mRNA.	332					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		AACAAAGAACTGACACAGAAA	0.498000												
FAT1	2195	broad.mit.edu	37	4	187540995	187540995	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:187540995C>T	uc003izf.3	-	9	6933	c.6745G>A	c.(6745-6747)Gca>Aca	p.A2249T		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	2249	Cadherin 20.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AGCTTATATGCCGGGTGGGCC	0.478000										HNSCC(5;0.00058)		
CHPF2	54480	broad.mit.edu	37	7	150932242	150932242	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:150932242G>A	uc003wjr.1	+	1	1885	c.372G>A	c.(370-372)gtG>gtA	p.V124V	CHPF2_uc003wjq.1_Silent_p.V116V	NM_019015	NP_061888	Q9P2E5	CHPF2_HUMAN	Homo sapiens chondroitin polymerizing factor 2 (CHPF2), mRNA.	124						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						ACCGTACGGTGGCCCATCACT	0.647000												
ENPEP	2028	broad.mit.edu	37	4	111397641	111397641	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:111397641C>T	uc003iab.4	+	0	413	c.71C>T	c.(70-72)gCg>gTg	p.A24V		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	24					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)	ATTCTCTGTGCGGTGGTGGTG	0.537000												
DNAH7	56171	broad.mit.edu	37	2	196771409	196771409	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:196771409G>A	uc002utj.4	-	26	4410	c.4309C>T	c.(4309-4311)Cga>Tga	p.R1437*		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1437	AAA 1 (By similarity).				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						AGTTCTGATCGCCCAGCATAC	0.373000												
RBBP6	5930	broad.mit.edu	37	16	24583525	24583525	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:24583525G>A	uc002dmh.3	+	17	6178	c.5138G>A	c.(5137-5139)aGc>aAc	p.S1713N	RBBP6_uc002dmi.3_Missense_Mutation_p.S1679N|RBBP6_uc010bxr.3_Missense_Mutation_p.S873N|RBBP6_uc002dmk.3_Missense_Mutation_p.S1546N|DQ573285_uc021tfm.1_5'Flank	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA.	1713					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		CAGACCCGAAGCCACAGTAGC	0.502000												
KSR2	283455	broad.mit.edu	37	12	118199014	118199014	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:118199014C>T	uc001two.2	-	3	756	c.701G>A	c.(700-702)cGc>cAc	p.R234H		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	263	Pro-rich.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTTGGGGGTGCGCGGCGGGGT	0.751000												
FANCD2	2177	broad.mit.edu	37	3	10084330	10084330	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:10084330G>A	uc003buw.3	+	10	949	c.871G>A	c.(871-873)Gcc>Acc	p.A291T	FANCD2_uc003bux.1_Missense_Mutation_p.A291T|FANCD2_uc003buy.1_Missense_Mutation_p.A291T	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Homo sapiens Fanconi anemia, complementation group D2 (FANCD2), transcript variant 1, mRNA.	291	Interaction with BRCA2.|Interaction with FANCE.				DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TTCCGTAACAGCCATGGATAC	0.383000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia			
RICTOR	253260	broad.mit.edu	37	5	39002706	39002706	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:39002706C>T	uc003jlo.2	-	4	345	c.323G>A	c.(322-324)cGa>cAa	p.R108Q	RICTOR_uc003jlp.2_Missense_Mutation_p.R108Q|RICTOR_uc010ivf.2_5'UTR|RICTOR_uc003jlq.1_Missense_Mutation_p.R92Q|RICTOR_uc011cpk.1_Missense_Mutation_p.R108Q	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	Homo sapiens RPTOR independent companion of MTOR, complex 2 (RICTOR), mRNA.	108					T cell costimulation|actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade	TORC2 complex|cytosol	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					GATGAGATATCGAAGCGCTCG	0.363000												
KCNQ5	56479	broad.mit.edu	37	6	73879485	73879485	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:73879485C>T	uc011dyh.2	+	11	1889	c.1542C>T	c.(1540-1542)ggC>ggT	p.G514G	KCNQ5_uc011dyi.2_Silent_p.G505G|KCNQ5_uc010kat.3_Silent_p.G486G|KCNQ5_uc003pgk.3_Silent_p.G495G|KCNQ5_uc011dyj.2_Intron|KCNQ5_uc011dyk.2_Silent_p.G245G	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	495					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		CAGCCCTTGGCACTGATGATG	0.438000												
PCDHGC5	56097	broad.mit.edu	37	5	140745824	140745824	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:140745824G>A	uc003lju.2	+	0	1927	c.1927G>A	c.(1927-1929)Gtg>Atg	p.V643M	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc011das.2_Missense_Mutation_p.V643M	NM_018918	NP_061741	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 5 (PCDHGA5), transcript variant 1, mRNA.	645	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGAGCCTCGTGGTGGCCGT	0.662000												
NCOA5	57727	broad.mit.edu	37	20	44698981	44698981	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:44698981A>G	uc002xrd.3	-	1	761	c.233T>C	c.(232-234)gTg>gCg	p.V78A	NCOA5_uc002xrc.3_5'UTR|NCOA5_uc002xre.3_Missense_Mutation_p.V78A	NM_020967	NP_066018	Q9HCD5	NCOA5_HUMAN	Homo sapiens nuclear receptor coactivator 5 (NCOA5), mRNA.	78	Arg/Asp-rich (mixed charge).|Transcription repression.				regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	ATP binding|aminoacyl-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				AACGTCGCGCACACTCCTGCT	0.552000												
RYR1	6261	broad.mit.edu	37	19	38958369	38958369	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:38958369C>T	uc002oit.3	+	24	3428	c.3298C>T	c.(3298-3300)Cgc>Tgc	p.R1100C	RYR1_uc002oiu.3_Missense_Mutation_p.R1100C	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	1100	6 X approximate repeats.|B30.2/SPRY 2.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AGGCGAGATGCGCGTGGGCTG	0.622000												
CLK4	57396	broad.mit.edu	37	5	178032359	178032359	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:178032359C>T	uc003mjf.1	-	10	1267	c.1159G>A	c.(1159-1161)Gca>Aca	p.A387T	CLK4_uc003mjg.1_Missense_Mutation_p.A351T|CLK4_uc010jku.1_Missense_Mutation_p.A207T|CLK4_uc003mjh.1_Missense_Mutation_p.A207T|CLK4_uc010jkv.1_Non-coding_Transcript|CLK4_uc011dgg.1_Intron|CLK4_uc011dgh.1_Missense_Mutation_p.A207T	NM_020666	NP_065717	Q9HAZ1	CLK4_HUMAN	Homo sapiens CDC-like kinase 4 (CLK4), mRNA.	387	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)		TCCATCATTGCCAGGTGCTCT	0.323000												
PRKCH	5583	broad.mit.edu	37	14	61997194	61997194	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:61997194C>T	uc001xfn.3	+	11	1947	c.1642C>T	c.(1642-1644)Ctc>Ttc	p.L548F	PRKCH_uc010tsa.2_Missense_Mutation_p.L387F|PRKCH_uc010tsb.2_Missense_Mutation_p.L116F	NM_006255	NP_006246	P24723	KPCL_HUMAN	Homo sapiens protein kinase C, eta (PRKCH), mRNA.	548	Protein kinase.				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		CTATGAGATGCTCTGTGGTCA	0.547000												
PTCHD2	57540	broad.mit.edu	37	1	11596418	11596418	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:11596418C>T	uc001ash.4	+	20	3992	c.3854C>T	c.(3853-3855)gCc>gTc	p.A1285V		NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	1285					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		ACGCTGGAGGCCGTGCGGCAC	0.682000												
GABBR2	9568	broad.mit.edu	37	9	101340263	101340263	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:101340263A>G	uc004ays.3	-	1	873	c.413T>C	c.(412-414)gTc>gCc	p.V138A		NM_005458	NP_005449	O75899	GABR2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 2 (GABBR2), mRNA.	138					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	GATGGATGTGACGGATGGACA	0.517000												
B4GALT7	11285	broad.mit.edu	37	5	177035954	177035954	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:177035954G>A	uc003mhy.3	+	4	860	c.767G>A	c.(766-768)cGc>cAc	p.R256H	B4GALT7_uc003mhz.3_Missense_Mutation_p.R142H	NM_007255	NP_009186	Q9UBV7	B4GT7_HUMAN	Homo sapiens xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 (galactosyltransferase I) (B4GALT7), mRNA.	256					fibril organization|glycosaminoglycan biosynthetic process|negative regulation of fibroblast proliferation|protein modification process|proteoglycan metabolic process	Golgi cisterna membrane|integral to membrane	metal ion binding|xylosylprotein 4-beta-galactosyltransferase activity			endometrium(2)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	7	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGACATTTCGCCACCTGCAT	0.607000												
PTPRA	5786	broad.mit.edu	37	20	2945651	2945651	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:2945651C>T	uc010zqd.2	+	3	568	c.251C>T	c.(250-252)cCc>cTc	p.P84L	PTPRA_uc002whj.3_Missense_Mutation_p.P73L|PTPRA_uc010zqb.1_Missense_Mutation_p.P73L|PTPRA_uc010zqc.1_Intron|PTPRA_uc002whk.3_Missense_Mutation_p.P73L|PTPRA_uc002whl.3_Missense_Mutation_p.P73L|PTPRA_uc002whm.3_5'UTR|PTPRA_uc002whn.3_Missense_Mutation_p.P73L	NM_002836	NP_002827	P18433	PTPRA_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, A (PTPRA), transcript variant 1, mRNA.	73					axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						ACTCTGGGACCCACCTATTTA	0.418000												
SCN4A	6329	broad.mit.edu	37	17	62026054	62026054	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:62026054G>A	uc002jds.1	-	15	3138	c.3061C>T	c.(3061-3063)Cgc>Tgc	p.R1021C		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	1021					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R1021R(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	CAGGCCCTGCGCAGAGTCCAC	0.617000												
FAT4	79633	broad.mit.edu	37	4	126237960	126237960	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:126237960G>A	uc003ifj.4	+	0	394	c.394G>A	c.(394-396)Gcc>Acc	p.A132T		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	132	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CAATGACAACGCCCCCGTTTT	0.617000											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
RFX2	5990	broad.mit.edu	37	19	6004294	6004294	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:6004294G>A	uc002meb.3	-	12	1687	c.1418C>T	c.(1417-1419)gCc>gTc	p.A473V	RFX2_uc002mec.3_Missense_Mutation_p.A448V	NM_000635	NP_000626	P48378	RFX2_HUMAN	Homo sapiens regulatory factor X, 2 (influences HLA class II expression) (RFX2), transcript variant 1, mRNA.	473					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GTTACGGATGGCCTGTGTCAA	0.542000												
GABRE	2564	broad.mit.edu	37	X	151123859	151123859	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:151123859G>T	uc004ffi.3	-	7	1172	c.1118C>A	c.(1117-1119)gCt>gAt	p.A373D	GABRE_uc011myd.2_Non-coding_Transcript|GABRE_uc022cgw.1_5'Flank	NM_004961	NP_004952	P78334	GBRE_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, epsilon (GABRE), mRNA.	373					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TTTAGGAGAAGCATGGGCTTT	0.498000												
KDELC1	79070	broad.mit.edu	37	13	103445716	103445716	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:103445716G>A	uc001vpq.4	-	3	1031	c.647C>T	c.(646-648)gCc>gTc	p.A216V	KDELC1_uc001vpr.4_5'UTR	NM_024089	NP_076994	Q6UW63	KDEL1_HUMAN	Homo sapiens KDEL (Lys-Asp-Glu-Leu) containing 1 (KDELC1), mRNA.	216						endoplasmic reticulum lumen				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AAGTAGTATGGCATCCATGAA	0.299000												
RECQL	5965	broad.mit.edu	37	12	21630862	21630862	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:21630862C>T	uc001rex.3	-	7	1090	c.742G>A	c.(742-744)Gca>Aca	p.A248T	RECQL_uc001rey.3_Missense_Mutation_p.A248T	NM_032941	NP_116559	P46063	RECQ1_HUMAN	Homo sapiens RecQ protein-like (DNA helicase Q1-like) (RECQL), transcript variant 2, mRNA.	248	Helicase ATP-binding.				DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding	p.A248T(2)		endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						ATTAGTGATGCGTTAGGGAAC	0.358000								Other identified genes with known or suspected DNA repair function				
TCF25	22980	broad.mit.edu	37	16	89967183	89967183	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:89967183G>A	uc002fpb.2	+	11	1444	c.1362G>A	c.(1360-1362)gcG>gcA	p.A454A	TCF25_uc002fpc.2_Silent_p.A219A	NM_014972	NP_055787	Q9BQ70	TCF25_HUMAN	Homo sapiens transcription factor 25 (basic helix-loop-helix) (TCF25), mRNA.	454					heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		TACAGCAGGCGCTCACCATGT	0.622000												
KDM4A	9682	broad.mit.edu	37	1	44128589	44128589	+	Missense_Mutation	SNP	C	C	T	rs140820309		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:44128589C>T	uc001cjx.3	+	4	620	c.454C>T	c.(454-456)Cgg>Tgg	p.R152W	KDM4A_uc010oki.2_Missense_Mutation_p.R152W	NM_014663	NP_055478	O75164	KDM4A_HUMAN	Homo sapiens lysine (K)-specific demethylase 4A (KDM4A), mRNA.	152	JmjC.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	p.R152W(2)		breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						GAATATTGGCCGGCTGAGAAC	0.478000												
BAI3	577	broad.mit.edu	37	6	69703826	69703826	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:69703826G>T	uc010kak.3	+	9	2177	c.1901G>T	c.(1900-1902)aGt>aTt	p.S634I	BAI3_uc003pev.4_Missense_Mutation_p.S634I	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	634					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A633V(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AAAAGGGCAAGTTACATCCCT	0.443000												
LILRB1	10859	broad.mit.edu	37	19	55143618	55143618	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:55143618C>T	uc002qgj.3	+	5	931	c.591C>T	c.(589-591)tgC>tgT	p.C197C	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.3_Silent_p.C197C|LILRB1_uc002qgk.3_Silent_p.C197C|LILRB1_uc002qgm.3_Silent_p.C197C|LILRB1_uc010erq.3_Silent_p.C197C|LILRB1_uc010err.3_Non-coding_Transcript	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.	197	Ig-like C2-type 2.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GGTACAGGTGCTATGCTTATG	0.592000										HNSCC(37;0.09)		
USP22	23326	broad.mit.edu	37	17	20922459	20922459	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:20922459C>T	uc002gym.4	-	3	662	c.458G>A	c.(457-459)cGg>cAg	p.R153Q	USP22_uc002gyn.4_Missense_Mutation_p.R141Q|USP22_uc002gyl.4_Missense_Mutation_p.R48Q	NM_015276	NP_056091	Q9UPT9	UBP22_HUMAN	Homo sapiens ubiquitin specific peptidase 22 (USP22), mRNA.	153					cell cycle|embryo development|histone H4 acetylation|histone deubiquitination|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						TTCAAGCTCCCGTTTGGTTGG	0.478000												
NAV2	89797	broad.mit.edu	37	11	20077375	20077375	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:20077375G>A	uc010rdm.2	+	19	5133	c.4772G>A	c.(4771-4773)aGc>aAc	p.S1591N	NAV2_uc001mpp.3_Missense_Mutation_p.S1504N|NAV2_uc001mpr.4_Missense_Mutation_p.S1568N|NAV2_uc021qew.1_Missense_Mutation_p.S1568N|NAV2_uc001mpt.2_Missense_Mutation_p.S617N|NAV2_uc009yhx.3_Missense_Mutation_p.S632N|NAV2_uc009yhy.1_Missense_Mutation_p.S530N|NAV2_uc009yhz.3_Missense_Mutation_p.S213N|NAV2_uc001mpu.3_Missense_Mutation_p.S6N	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN	Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.	1591	Ser-rich.					nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						AGGACTCACAGCCTCTCCAAT	0.502000												
NLGN4Y	22829	broad.mit.edu	37	Y	16952743	16952743	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrY:16952743G>A	uc011nas.1	+	6	2291	c.2112G>A	c.(2110-2112)tcG>tcA	p.S704S	NLGN4Y_uc004fte.2_Silent_p.S516S|NLGN4Y_uc004ftg.2_Silent_p.S684S|NLGN4Y_uc004ftf.2_Silent_p.S377S|NLGN4Y_uc004fth.2_Silent_p.S684S	NM_001206850	NP_001193779	Q8NFZ3	NLGNY_HUMAN	Homo sapiens neuroligin 4, Y-linked (NLGN4Y), transcript variant 3, mRNA.	684					brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|integral to plasma membrane|synapse	neurexin binding|receptor activity			large_intestine(3)|lung(7)|prostate(2)|skin(2)	14						TCGGGGCGTCGCTCCTCTTCC	0.532000												
DYRK1A	1859	broad.mit.edu	37	21	38884778	38884778	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr21:38884778G>T	uc002ywk.3	+	10	2312	c.2236G>T	c.(2236-2238)Gaa>Taa	p.E746*	DYRK1A_uc002ywi.3_3'UTR|DYRK1A_uc002ywj.3_Nonsense_Mutation_p.E737*|DYRK1A_uc002ywm.3_3'UTR|DYRK1A_uc011aei.2_Nonsense_Mutation_p.E507*	NM_001396	NP_001387	Q13627	DYR1A_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A (DYRK1A), transcript variant 1, mRNA.	746					nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity	p.E746Q(2)		breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						GGCTGATAGAGAAGAGTCCCC	0.438000												
SYCP2L	221711	broad.mit.edu	37	6	10924823	10924823	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:10924823G>A	uc003mzo.3	+	14	1463	c.1167G>A	c.(1165-1167)ttG>ttA	p.L389L	SYCP2L_uc011din.1_Silent_p.L230L|SYCP2L_uc010jow.3_Silent_p.L9L	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	Homo sapiens synaptonemal complex protein 2-like (SYCP2L), mRNA.	389						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			ATTTTGATTTGCAGTTCAACA	0.313000												
RANBP9	10048	broad.mit.edu	37	6	13638133	13638133	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:13638133C>T	uc003nbb.3	-	9	1639	c.1580G>A	c.(1579-1581)tGc>tAc	p.C527Y	RANBP9_uc003nba.3_Missense_Mutation_p.C186Y	NM_005493	NP_005484	Q96S59	RANB9_HUMAN	Homo sapiens RAN binding protein 9 (RANBP9), mRNA.	527					axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			ATTACTATGGCAATATGATTG	0.313000												
KRT8	3856	broad.mit.edu	37	12	53292668	53292668	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:53292668C>T	uc009zmk.1	-	6	1101	c.1081G>A	c.(1081-1083)Gcc>Acc	p.A361T	KRT8_uc001sbd.2_Missense_Mutation_p.A333T|KRT8_uc009zml.1_Missense_Mutation_p.A333T|KRT8_uc009zmm.1_Missense_Mutation_p.A333T	NM_002273	NP_002264	P05787	K2C8_HUMAN	Homo sapiens keratin 8 (KRT8), transcript variant 2, mRNA.	333	Coil 2.|Necessary for interaction with PNN.|Rod.				cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity			endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCAATGGCGGCCTCCAGGGAA	0.642000												
REV3L	5980	broad.mit.edu	37	6	111694065	111694065	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:111694065G>A	uc003puy.4	-	12	5834	c.5493C>T	c.(5491-5493)gaC>gaT	p.D1831D	REV3L_uc003pux.4_Silent_p.D1753D|REV3L_uc003puz.4_Silent_p.D1753D	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	Homo sapiens REV3-like, catalytic subunit of DNA polymerase zeta (yeast) (REV3L), mRNA.	1831					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CACAGGCCACGTCTACAAGTT	0.423000								DNA polymerases (catalytic subunits)				
KIAA0556	23247	broad.mit.edu	37	16	27709701	27709701	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:27709701C>T	uc002dow.3	+	8	1017	c.993C>T	c.(991-993)tgC>tgT	p.C331C	KIAA0556_uc002dox.1_Silent_p.C239C	NM_015202	NP_056017	O60303	K0556_HUMAN	Homo sapiens KIAA0556 (KIAA0556), mRNA.	331										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						AAACTCTTTGCGAGGCTGAGT	0.587000												
PHF5A	84844	broad.mit.edu	37	22	41863526	41863526	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:41863526G>A	uc003bab.3	-	2	220	c.169C>T	c.(169-171)Cgc>Tgc	p.R57C	ACO2_uc003bac.3_5'Flank	NM_032758	NP_116147	Q7RTV0	PHF5A_HUMAN	Homo sapiens PHD finger protein 5A (PHF5A), mRNA.	57					nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent	U12-type spliceosomal complex|U2 snRNP|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity	p.R57S(2)		central_nervous_system(1)|large_intestine(2)|lung(1)	4						ATCACACAGCGCCCCTGGTAA	0.507000												
FICD	11153	broad.mit.edu	37	12	108912521	108912521	+	Missense_Mutation	SNP	C	C	T	rs151147125		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:108912521C>T	uc001tmx.1	+	2	792	c.646C>T	c.(646-648)Cgc>Tgc	p.R216C		NM_007076	NP_009007	Q9BVA6	FICD_HUMAN	Homo sapiens FIC domain containing (FICD), mRNA.	216					negative regulation of Rho GTPase activity	integral to membrane	binding|protein adenylyltransferase activity			NS(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|upper_aerodigestive_tract(2)	15						CTCAGCTCTGCGCAGGGTCAT	0.542000												
BTN3A3	10384	broad.mit.edu	37	6	26452025	26452025	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:26452025C>T	uc003nhz.3	+	10	1384	c.1141C>T	c.(1141-1143)Cgt>Tgt	p.R381C	BTN3A3_uc011dkn.2_Missense_Mutation_p.R332C|BTN3A3_uc021ynh.1_Missense_Mutation_p.R171C	NM_006994	NP_008925	O00478	BT3A3_HUMAN	Homo sapiens butyrophilin, subfamily 3, member A3 (BTN3A3), transcript variant 1, mRNA.	381	B30.2/SPRY.					integral to membrane				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						ATTTGAATGGCGTTACTGTGT	0.522000												
DNAH7	56171	broad.mit.edu	37	2	196718175	196718175	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:196718175G>A	uc002utj.4	-	45	8774	c.8673C>T	c.(8671-8673)agC>agT	p.S2891S		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2891					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.W2890L(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						GAGCTGTGTGGCTCCATCGAG	0.483000												
TDRD10	126668	broad.mit.edu	37	1	154493838	154493838	+	Silent	SNP	A	A	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:154493838A>C	uc009wow.3	+	5	1090	c.252A>C	c.(250-252)acA>acC	p.T84T	TDRD10_uc001ffd.3_Silent_p.T84T|TDRD10_uc001ffe.3_Silent_p.T5T	NM_001098475	NP_001091945	Q5VZ19	TDR10_HUMAN	Homo sapiens tudor domain containing 10 (TDRD10), transcript variant 1, mRNA.	84	RRM.						RNA binding|nucleotide 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)			AGAAAGTGACACTTGCAATCC	0.498000												
KPRP	448834	broad.mit.edu	37	1	152733226	152733226	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:152733226C>A	uc001fal.1	+	1	1220	c.1162C>A	c.(1162-1164)Ctt>Att	p.L388I	KPRP_uc021ozf.1_Missense_Mutation_p.L388I	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA.	388	Pro-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCACGGCGTCTTGACCAGTG	0.647000												
NNMT	4837	broad.mit.edu	37	11	114182863	114182863	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:114182863C>T	uc001por.1	+	4	723	c.459C>T	c.(457-459)ccC>ccT	p.P153P	NNMT_uc001pos.1_Silent_p.P153P	NM_006169	NP_006160	P40261	NNMT_HUMAN	Homo sapiens nicotinamide N-methyltransferase (NNMT), mRNA.	153					xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity	p.P153S(1)		kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	GGGCCGTCCCCTTACCCCCGG	0.627000												
PDLIM3	27295	broad.mit.edu	37	4	186446177	186446177	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:186446177T>C	uc003ixw.4	-	1	366	c.242A>G	c.(241-243)gAc>gGc	p.D81G	PDLIM3_uc003ixx.4_Missense_Mutation_p.D81G|PDLIM3_uc010isi.3_Non-coding_Transcript|PDLIM3_uc003ixy.3_Missense_Mutation_p.D81G|PDLIM3_uc003ixz.2_Missense_Mutation_p.D81G	NM_014476	NP_055291	Q53GG5	PDLI3_HUMAN	Homo sapiens PDZ and LIM domain 3 (PDLIM3), transcript variant 1, mRNA.	81	PDZ.					sarcomere	zinc ion binding			breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		GAAGCACCTGTCAATTTTGAG	0.473000												
ACOX3	8310	broad.mit.edu	37	4	8416072	8416072	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:8416072C>T	uc010idk.3	-	4	635	c.490G>A	c.(490-492)Ggc>Agc	p.G164S	ACOX3_uc003glc.4_Missense_Mutation_p.G164S|ACOX3_uc003gld.4_Missense_Mutation_p.G164S	NM_003501	NP_003492	O15254	ACOX3_HUMAN	Homo sapiens acyl-CoA oxidase 3, pristanoyl (ACOX3), transcript variant 1, mRNA.	164					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						GTATTACTGCCGTGGCTTAAT	0.463000												
TXLNB	167838	broad.mit.edu	37	6	139564109	139564109	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:139564109C>T	uc021zfy.1	-	9	1774	c.1609G>A	c.(1609-1611)Gct>Act	p.A537T		NM_153235	NP_694967	Q8N3L3	TXLNB_HUMAN	Homo sapiens taxilin beta (TXLNB), mRNA.	537						cytoplasm		p.A536T(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		TCCTTGAGAGCGGCGTCAGCA	0.567000												
CST11	140880	broad.mit.edu	37	20	23432462	23432462	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:23432462C>T	uc002wtf.1	-	1	358	c.324G>A	c.(322-324)gaG>gaA	p.E108E	CST11_uc002wtg.1_Intron	NM_130794	NP_570612	Q9H112	CST11_HUMAN	Homo sapiens cystatin 11 (CST11), transcript variant 1, mRNA.	108					defense response to bacterium	cytoplasm|nucleus	cysteine-type endopeptidase inhibitor activity			kidney(2)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	14	Colorectal(13;0.0431)|Lung NSC(19;0.235)					CCTTGTGAAGCTCCCTTTCCT	0.468000												
ZCCHC14	23174	broad.mit.edu	37	16	87445771	87445771	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:87445771C>T	uc002fjz.1	-	11	2172	c.2145G>A	c.(2143-2145)acG>acA	p.T715T	ZCCHC14_uc002fka.1_Non-coding_Transcript|ZCCHC14_uc002fkb.3_Silent_p.T491T	NM_015144	NP_055959	Q8WYQ9	ZCH14_HUMAN	Homo sapiens zinc finger, CCHC domain containing 14 (ZCCHC14), mRNA.	715	Ser-rich.				cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		TGGCAAAGGACGTGGAGGGGT	0.617000												
TTN	7273	broad.mit.edu	37	2	179444834	179444834	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:179444834G>A	uc021vsy.1	-	266	59701	c.59476C>T	c.(59476-59478)Cgt>Tgt	p.R19826C	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R13521C|TTN_uc021vta.1_Missense_Mutation_p.R13454C|TTN_uc021vtb.1_Missense_Mutation_p.R13329C|AX746670_uc002umv.1_3'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	20753	Ig-like 110.						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)			TCTGCATCACGTTTTTGTACC	0.443000												
EXOC2	55770	broad.mit.edu	37	6	576783	576783	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:576783C>A	uc003mtd.3	-	11	1426	c.1292G>T	c.(1291-1293)aGc>aTc	p.S431I	EXOC2_uc003mte.3_Missense_Mutation_p.S431I|EXOC2_uc011dho.2_Missense_Mutation_p.S26I	NM_018303	NP_060773	Q96KP1	EXOC2_HUMAN	Homo sapiens exocyst complex component 2 (EXOC2), mRNA.	431					exocytosis|protein transport					breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		CTGAAAGCTGCTGCCCCTCTT	0.493000												
KRT39	390792	broad.mit.edu	37	17	39114941	39114941	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:39114941G>A	uc002hvo.1	-	6	1424	c.1388C>T	c.(1387-1389)aCc>aTc	p.T463I	KRT39_uc010wfm.1_Missense_Mutation_p.T196I	NM_213656	NP_998821	Q6A163	K1C39_HUMAN	Homo sapiens keratin 39 (KRT39), mRNA.	463	Tail.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				CTTGGTGATGGTGCAAATTTT	0.517000												
WDR62	284403	broad.mit.edu	37	19	36594764	36594764	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:36594764G>A	uc002odd.2	+	29	4125	c.4034G>A	c.(4033-4035)cGc>cAc	p.R1345H	WDR62_uc002odc.2_Missense_Mutation_p.R1340H	NM_001083961	NP_001077430	O43379	WDR62_HUMAN	Homo sapiens WD repeat domain 62 (WDR62), transcript variant 1, mRNA.	1340					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TCTGCCTTTCGCCCAAGTCTC	0.687000												
BHMT2	23743	broad.mit.edu	37	5	78379533	78379533	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:78379533C>T	uc003kft.3	+	6	923	c.864C>T	c.(862-864)ggC>ggT	p.G288G	BHMT2_uc011cth.2_Silent_p.G224G	NM_017614	NP_060084	Q9H2M3	BHMT2_HUMAN	Homo sapiens betaine--homocysteine S-methyltransferase 2 (BHMT2), transcript variant 1, mRNA.	288	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)	GGTACATTGGCGGGTGCTGTG	0.522000												
STEAP3	55240	broad.mit.edu	37	2	120005645	120005645	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:120005645C>T	uc002tlp.3	+	3	1040	c.883C>T	c.(883-885)Ctg>Ttg	p.L295L	STEAP3_uc002tlq.3_Silent_p.L305L|STEAP3_uc002tlr.3_Silent_p.L295L|STEAP3_uc010fle.3_Silent_p.L295L	NM_018234	NP_060704	Q658P3	STEA3_HUMAN	Homo sapiens STEAP family member 3, metalloreductase (STEAP3), transcript variant 2, mRNA.	295	Ferric oxidoreductase.				apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						CCCCGACTGGCTGGACCACTG	0.687000												
PCK1	5105	broad.mit.edu	37	20	56138777	56138777	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:56138777G>A	uc002xyn.4	+	5	1118	c.955G>A	c.(955-957)Gca>Aca	p.A319T	PCK1_uc010zzm.2_Intron	NM_002591	NP_002582	P35558	PCKGC_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.	319					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	GTP binding|carboxylic acid binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	p.D318D(1)		endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			GAAGTTTGACGCACAAGGTGA	0.542000												
HM13	81502	broad.mit.edu	37	20	30147438	30147438	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:30147438G>A	uc002wwc.3	+	8	947	c.833G>A	c.(832-834)cGc>cAc	p.R278H	HM13_uc002wwd.3_Missense_Mutation_p.R278H|HM13_uc002wwe.3_Missense_Mutation_p.R278H|HM13_uc002wwf.3_Missense_Mutation_p.R154H	NM_178581	NP_848696	Q8TCT9	HM13_HUMAN	Homo sapiens histocompatibility (minor) 13 (HM13), transcript variant 3, mRNA.	278					membrane protein proteolysis	cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane	aspartic-type endopeptidase activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			TTGCTGCTGCGCTTTGACATC	0.582000											OREG0025850	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
BMPER	168667	broad.mit.edu	37	7	33945297	33945297	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:33945297C>T	uc011kap.2	+	1	446	c.72C>T	c.(70-72)tgC>tgT	p.C24C		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	Homo sapiens BMP binding endothelial regulator (BMPER), mRNA.	24					blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						TTACGTGCTGCGTCTTGCTGC	0.662000												
DAGLA	747	broad.mit.edu	37	11	61488161	61488161	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:61488161C>T	uc001nsa.3	+	2	222	c.106C>T	c.(106-108)Ctg>Ttg	p.L36L		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	Homo sapiens diacylglycerol lipase, alpha (DAGLA), mRNA.	36					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GTTTGTGATCCTGTCCGTGGT	0.637000												
GGA3	23163	broad.mit.edu	37	17	73236020	73236020	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:73236020C>T	uc002jni.2	-	12	1472	c.1433G>A	c.(1432-1434)aGt>aAt	p.S478N	GGA3_uc002jnk.2_Missense_Mutation_p.S406N|GGA3_uc002jnj.2_Missense_Mutation_p.S445N|GGA3_uc010wry.2_Missense_Mutation_p.S406N|GGA3_uc010wrw.2_Missense_Mutation_p.S356N|GGA3_uc010wrx.2_Missense_Mutation_p.S356N	NM_138619	NP_619525	Q9NZ52	GGA3_HUMAN	Homo sapiens golgi-associated, gamma adaptin ear containing, ARF binding protein 3 (GGA3), transcript variant long, mRNA.	478	Unstructured hinge.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			GGAGCCCGCACTGGGGGCAGG	0.657000												
ZNF764	92595	broad.mit.edu	37	16	30569345	30569345	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:30569345G>A	uc002dyq.3	-	0	298	c.159C>T	c.(157-159)gaC>gaT	p.D53D	ZNF764_uc002dyr.2_Silent_p.D53D	NM_033410	NP_219363	Q96H86	ZN764_HUMAN	Homo sapiens zinc finger protein 764 (ZNF764), transcript variant 1, mRNA.	53	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						CCCGCATCACGTCCCGGTACA	0.726000												
GDF11	10220	broad.mit.edu	37	12	56143477	56143477	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:56143477C>T	uc001shq.3	+	2	1072	c.1035C>T	c.(1033-1035)tgC>tgT	p.C345C		NM_005811	NP_005802	O95390	GDF11_HUMAN	Homo sapiens growth differentiation factor 11 (GDF11), mRNA.	345					growth|mesoderm development|skeletal system development	extracellular space	cytokine activity|growth factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|urinary_tract(1)	12						CCGGCCAGTGCGAGTACATGT	0.562000												
CRISPLD2	83716	broad.mit.edu	37	16	84922872	84922872	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:84922872G>T	uc010voh.1	+	13	1569	c.1342G>T	c.(1342-1344)Gtc>Ttc	p.V448F	CRISPLD2_uc010vog.1_Intron	NM_031476	NP_113664	Q9H0B8	CRLD2_HUMAN	Homo sapiens cysteine-rich secretory protein LCCL domain containing 2 (CRISPLD2), mRNA.	448	LCCL 2.					extracellular region|transport vesicle				endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						GCACGCGGGAGTCATCAGCAA	0.567000												
TLN2	83660	broad.mit.edu	37	15	63009877	63009877	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:63009877C>T	uc002alb.4	+	20	2866	c.2866C>T	c.(2866-2868)Cag>Tag	p.Q956*		NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	956	Ala-rich.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GCAGCTGGTCCAGAGTTGCAA	0.577000												
RNPEPL1	57140	broad.mit.edu	37	2	241516387	241516387	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:241516387C>T	uc002vzi.3	+	9	1864	c.1171C>T	c.(1171-1173)Cgg>Tgg	p.R391W	RNPEPL1_uc002vzj.3_Missense_Mutation_p.R39W	NM_018226	NP_060696	Q9HAU8	RNPL1_HUMAN	Homo sapiens arginyl aminopeptidase (aminopeptidase B)-like 1 (RNPEPL1), mRNA.	391					leukotriene biosynthetic process|proteolysis		aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.R391W(2)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	13		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)		CCACAGGGTGCGGCGCTTCCT	0.647000												
CYBB	1536	broad.mit.edu	37	X	37663265	37663265	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:37663265G>A	uc004ddr.2	+	8	1094	c.1033G>A	c.(1033-1035)Gcc>Acc	p.A345T	CYBB_uc011mke.1_Non-coding_Transcript|CYBB_uc011mkf.1_Missense_Mutation_p.A313T|CYBB_uc011mkg.1_Missense_Mutation_p.A78T	NM_000397	NP_000388	P04839	CY24B_HUMAN	Homo sapiens cytochrome b-245, beta polypeptide (CYBB), mRNA.	345	FAD-binding FR-type.				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						ACTGACATCCGCCCCTGAGGA	0.483000												
PLEKHG4B	153478	broad.mit.edu	37	5	162053	162053	+	Silent	SNP	C	C	T	rs145013757	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:162053C>T	uc003jak.2	+	9	1625	c.1575C>T	c.(1573-1575)tgC>tgT	p.C525C		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	525					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CCGAGTTGTGCGAGACGGTAA	0.637000												
NHS	4810	broad.mit.edu	37	X	17746817	17746817	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:17746817C>A	uc011mix.2	+	7	4609	c.4271C>A	c.(4270-4272)tCc>tAc	p.S1424Y	NHS_uc004cxx.3_Missense_Mutation_p.S1403Y|NHS_uc004cxy.3_Missense_Mutation_p.S1247Y|NHS_uc004cxz.3_Missense_Mutation_p.S1226Y|NHS_uc004cya.3_Missense_Mutation_p.S1126Y	NM_001136024	NP_001129496	Q6T4R5	NHS_HUMAN	Homo sapiens Nance-Horan syndrome (congenital cataracts and dental anomalies) (NHS), transcript variant 2, mRNA.	1403						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)					AGTGAAGACTCCCAAGCTGAA	0.433000												
OSBPL10	114884	broad.mit.edu	37	3	31710298	31710298	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:31710298C>T	uc021wuu.1	-	9	2603	c.1932G>A	c.(1930-1932)aaG>aaA	p.K644K	OSBPL10_uc003ceu.1_Silent_p.K401K|OSBPL10_uc011axf.2_Silent_p.K580K	NM_017784	NP_060254	Q9BXB5	OSB10_HUMAN	Homo sapiens oxysterol binding protein-like 10 (OSBPL10), transcript variant 1, mRNA.	644					lipid transport		lipid binding	p.V643V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		TTGGGTTGTGCTTCACTTCTG	0.398000												
ATP1A4	480	broad.mit.edu	37	1	160151577	160151577	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:160151577G>A	uc001fve.4	+	18	3319	c.2840G>A	c.(2839-2841)cGc>cAc	p.R947H	ATP1A4_uc001fvf.4_Non-coding_Transcript|ATP1A4_uc001fvg.3_Missense_Mutation_p.R450H|ATP1A4_uc001fvh.3_Missense_Mutation_p.R83H	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 4 polypeptide (ATP1A4), transcript variant 1, mRNA.	947					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.R947C(1)|p.R946H(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AAGACTCGCCGCAACTCACTT	0.527000												
PIF1	80119	broad.mit.edu	37	15	65114700	65114700	+	Missense_Mutation	SNP	C	C	T	rs139868280	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:65114700C>T	uc002ant.2	-	2	734	c.668G>A	c.(667-669)aGc>aAc	p.S223N	PIF1_uc002anr.2_5'Flank|PIF1_uc002ans.2_5'Flank|PIF1_uc010uiq.1_Missense_Mutation_p.S223N|PIF1_uc002anu.3_Missense_Mutation_p.S223N	NM_025049	NP_079325	Q9H611	PIF1_HUMAN	Homo sapiens PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae) (PIF1), mRNA.	223	Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding			kidney(1)|lung(1)	2						GAAGAAGATGCTCTGGCCTTT	0.602000												
SESTD1	91404	broad.mit.edu	37	2	179974726	179974726	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:179974726T>C	uc002uni.4	-	17	2141	c.1991A>G	c.(1990-1992)gAc>gGc	p.D664G	SESTD1_uc002unh.4_Missense_Mutation_p.D167G	NM_178123	NP_835224	Q86VW0	SESD1_HUMAN	Homo sapiens SEC14 and spectrin domains 1 (SESTD1), mRNA.	664					regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			AGAAGCCATGTCACTTGGACT	0.373000												
DDX23	9416	broad.mit.edu	37	12	49227064	49227064	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:49227064C>T	uc001rsm.3	-	12	1890	c.1799G>A	c.(1798-1800)cGc>cAc	p.R600H		NM_004818	NP_004809	Q9BUQ8	DDX23_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 (DDX23), mRNA.	600	Helicase ATP-binding.					U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding	p.R600S(1)		NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						CCTTACTTGGCGGTACTTATG	0.567000												
TMEM213	155006	broad.mit.edu	37	7	138487646	138487646	+	Splice_Site	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:138487646C>T	uc010lna.3	+	3	266	c.155_splice	c.e3-1	p.N52_splice	TMEM213_uc010lnb.3_Splice_Site_p.N51_splice	NM_001085429	NP_001078898	A2RRL7	TM213_HUMAN	Homo sapiens transmembrane protein 213 (TMEM213), mRNA.	52						integral to membrane				breast(1)|endometrium(3)|kidney(1)|lung(1)	6						CCCCACCAGACGTGGACTTCT	0.602000												
ANO8	57719	broad.mit.edu	37	19	17444269	17444269	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:17444269C>T	uc002ngf.2	-	2	471	c.312G>A	c.(310-312)acG>acA	p.T104T	ANO8_uc010eap.2_Non-coding_Transcript|GTPBP3_uc010xpo.2_5'Flank	NM_020959	NP_066010	Q9HCE9	ANO8_HUMAN	Homo sapiens anoctamin 8 (ANO8), mRNA.	104						chloride channel complex	chloride channel activity			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						CGTAGGCACGCGTGTGGCGGT	0.642000												
PDHA1	5160	broad.mit.edu	37	X	19372612	19372612	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:19372612C>T	uc004czg.4	+	5	659	c.514C>T	c.(514-516)Ccc>Tcc	p.P172S	PDHA1_uc004czh.4_Missense_Mutation_p.P210S|PDHA1_uc011mjc.2_Missense_Mutation_p.P179S|PDHA1_uc011mjd.2_Intron|PDHA1_uc010nfl.3_5'Flank	NM_000284	NP_000275	P08559	ODPA_HUMAN	Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 1 (PDHA1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	172					glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)				NADH(DB00157)	ATGTTAGGTGCCCCTGGGCGC	0.468000												
JAG1	182	broad.mit.edu	37	20	10620233	10620233	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:10620233C>T	uc002wnw.2	-	25	4086	c.3570G>A	c.(3568-3570)ccG>ccA	p.P1190P		NM_000214	NP_000205	P78504	JAG1_HUMAN	Homo sapiens jagged 1 (JAG1), mRNA.	1190					Notch receptor processing|Notch signaling pathway|angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	Notch binding|calcium ion binding|growth factor activity|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						GGTGTTTTGTCGGCGTGCCGT	0.542000									Alagille Syndrome			
PRKAG1	5571	broad.mit.edu	37	12	49397360	49397360	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:49397360T>C	uc001rsy.3	-	9	828	c.722A>G	c.(721-723)tAc>tGc	p.Y241C	PRKAG1_uc010smd.2_Missense_Mutation_p.Y209C|PRKAG1_uc001rsz.3_Missense_Mutation_p.Y250C	NM_002733	NP_001193639	P54619	AAKG1_HUMAN	Homo sapiens protein kinase, AMP-activated, gamma 1 non-catalytic subunit (PRKAG1), transcript variant 1, mRNA.	241	CBS 3.				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|positive regulation of protein kinase activity|regulation of fatty acid oxidation|regulation of glycolysis|spermatogenesis	cytosol	cAMP-dependent protein kinase activity|cAMP-dependent protein kinase regulator activity|protein kinase binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	9						AAACTTGGAGTAGATGTCCAC	0.547000												
ANXA6	309	broad.mit.edu	37	5	150489327	150489327	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:150489327C>T	uc003ltl.2	-	21	1899	c.1671G>A	c.(1669-1671)ccG>ccA	p.P557P	ANXA6_uc011dcp.2_Silent_p.P525P|ANXA6_uc003lto.2_Silent_p.P144P	NM_001155	NP_001180473	P08133	ANXA6_HUMAN	Homo sapiens annexin A6 (ANXA6), transcript variant 1, mRNA.	557						melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCGGAGGTGCGGATAGCTCC	0.562000												
SLFNL1	200172	broad.mit.edu	37	1	41483534	41483534	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:41483534G>A	uc009vwg.1	-	3	1114	c.730C>T	c.(730-732)Cgg>Tgg	p.R244W	LOC100507178_uc021omd.1_Non-coding_Transcript|SLFNL1_uc009vwf.1_Missense_Mutation_p.R244W|SLFNL1_uc001cgn.2_Missense_Mutation_p.R185W|SLFNL1_uc001cgm.2_Missense_Mutation_p.R244W	NM_001168247	NP_659427	Q499Z3	SLNL1_HUMAN	Homo sapiens schlafen-like 1 (SLFNL1), transcript variant 2, mRNA.	244							ATP binding			endometrium(3)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)				ACGTAGCGCCGCACGTGGTGC	0.662000												
LHFPL4	375323	broad.mit.edu	37	3	9547876	9547876	+	Missense_Mutation	SNP	C	C	T	rs148006358		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:9547876C>T	uc003bry.3	-	2	704	c.418G>A	c.(418-420)Gtc>Atc	p.V140I		NM_198560	NP_940962	Q7Z7J7	LHPL4_HUMAN	Homo sapiens lipoma HMGIC fusion partner-like 4 (LHFPL4), mRNA.	140						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1)	10	Medulloblastoma(99;0.227)					CAGCCCAGGACGAGGCACAGA	0.617000												
UBAP1	51271	broad.mit.edu	37	9	34241362	34241362	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:34241362G>A	uc022bfy.1	+	4	737	c.339G>A	c.(337-339)atG>atA	p.M113I	UBAP1_uc010mka.2_Missense_Mutation_p.M149I|UBAP1_uc003zty.3_Missense_Mutation_p.M113I|UBAP1_uc022bfz.1_Missense_Mutation_p.M113I|UBAP1_uc003ztx.3_Missense_Mutation_p.M113I|UBAP1_uc011loj.2_Missense_Mutation_p.M177I|UBAP1_uc011loi.2_Missense_Mutation_p.M149I|KIF24_uc010mkb.3_Intron|UBAP1_uc003ztz.3_Missense_Mutation_p.M113I	NM_001171203	NP_057609	Q9NZ09	UBAP1_HUMAN	Homo sapiens ubiquitin associated protein 1 (UBAP1), transcript variant 2, mRNA.	113						cytoplasm				endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(29;0.00272)			CAGCCACAATGCCACCTCCTA	0.507000												
MYH10	4628	broad.mit.edu	37	17	8526285	8526285	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:8526285T>C	uc002glm.3	-	1	376	c.280A>G	c.(280-282)Aca>Gca	p.T94A	MYH10_uc002gll.3_Missense_Mutation_p.T94A|MYH10_uc010cnx.3_Missense_Mutation_p.T94A	NM_005964	NP_005955	P35580	MYH10_HUMAN	Homo sapiens myosin, heavy chain 10, non-muscle (MYH10), transcript variant 2, mRNA.	94	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TTCAAGCATGTCAATTCTGCC	0.383000												
LRRTM1	347730	broad.mit.edu	37	2	80530493	80530493	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:80530493G>A	uc021vjt.1	-	0	452	c.452C>T	c.(451-453)gCg>gTg	p.A151V	CTNNA2_uc010yse.2_Intron|CTNNA2_uc010ysf.2_Intron|CTNNA2_uc010ysg.2_Intron|CTNNA2_uc010ysh.2_Intron|CTNNA2_uc010ysi.2_5'Flank|LRRTM1_uc002soj.3_Non-coding_Transcript|LRRTM1_uc002sok.1_Missense_Mutation_p.A151V	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 1 (LRRTM1), mRNA.	151						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GGGCGCGAGCGCCTGCAGCTT	0.637000										HNSCC(69;0.2)		
KRT33A	3883	broad.mit.edu	37	17	39502732	39502732	+	Silent	SNP	C	C	T	rs57495682	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:39502732C>T	uc002hwk.1	-	5	1102	c.1065G>A	c.(1063-1065)acG>acA	p.T355T		NM_004138	NP_004129	O76009	KT33A_HUMAN	Homo sapiens keratin 33A (KRT33A), mRNA.	355	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				GGCTCCGGTACGTGTTGATCT	0.577000												
WDR74	54663	broad.mit.edu	37	11	62601368	62601368	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:62601368G>A	uc001nvm.2	-	9	985	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	STX5_uc001nvh.3_5'Flank|STX5_uc010rmj.2_5'Flank|STX5_uc010rmi.2_5'Flank|WDR74_uc001nvl.2_Missense_Mutation_p.R273C|WDR74_uc009yoi.2_Missense_Mutation_p.R273C	NM_018093	NP_060563	Q6RFH5	WDR74_HUMAN	Homo sapiens WD repeat domain 74 (WDR74), mRNA.	273						nucleolus				kidney(2)|large_intestine(1)|liver(1)|lung(3)|ovary(1)	8						TGCAACCCACGCACACTGCCT	0.562000												
CDH10	1008	broad.mit.edu	37	5	24535840	24535840	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:24535840C>A	uc003jgr.2	-	3	1124	c.618G>T	c.(616-618)caG>caT	p.Q206H	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	206	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G205W(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AGAAATAGGGCTGCCCTTGAA	0.443000										HNSCC(23;0.051)		
KDM1B	221656	broad.mit.edu	37	6	18200736	18200736	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:18200736G>A	uc003nco.1	+	5	754	c.679G>A	c.(679-681)Gtc>Atc	p.V227I	KDM1B_uc003ncn.1_Missense_Mutation_p.V298I	NM_153042	NP_694587	Q8NB78	KDM1B_HUMAN	Homo sapiens lysine (K)-specific demethylase 1B (KDM1B), mRNA.	430					multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						TTTTAAAGGCGTCACAGTGGG	0.428000												
SSFA2	6744	broad.mit.edu	37	2	182786932	182786932	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:182786932G>A	uc002uoi.3	+	15	3790	c.3468G>A	c.(3466-3468)acG>acA	p.T1156T	SSFA2_uc002uoh.3_Silent_p.T1156T|SSFA2_uc002uoj.3_Silent_p.T1134T|SSFA2_uc002uok.3_Non-coding_Transcript|SSFA2_uc010zfo.2_Silent_p.T981T|SSFA2_uc002uol.3_Silent_p.T1003T|SSFA2_uc002uom.3_Silent_p.T620T	NM_001130445	NP_001123917	P28290	SSFA2_HUMAN	Homo sapiens sperm specific antigen 2 (SSFA2), transcript variant 1, mRNA.	1156						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			TGGCTCTAACGCCAACAGCTC	0.502000												
OSBPL10	114884	broad.mit.edu	37	3	31725328	31725328	+	Silent	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:31725328A>G	uc021wuu.1	-	7	2195	c.1524T>C	c.(1522-1524)ccT>ccC	p.P508P	OSBPL10_uc003ceu.1_Silent_p.P265P|OSBPL10_uc011axf.2_Silent_p.P444P	NM_017784	NP_060254	Q9BXB5	OSB10_HUMAN	Homo sapiens oxysterol binding protein-like 10 (OSBPL10), transcript variant 1, mRNA.	508					lipid transport		lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		GACAGCTGGCAGGAGAGCGGG	0.547000												
SDK1	221935	broad.mit.edu	37	7	3991379	3991379	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:3991379G>T	uc003smx.3	+	6	1116	c.977G>T	c.(976-978)aGt>aTt	p.S326I		NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	326	Ig-like C2-type 3.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GAGGACCTGAGTGTGACCTGG	0.587000												
EPM2A	7957	broad.mit.edu	37	6	145948764	145948764	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:145948764C>T	uc003qkw.3	-	3	1141	c.784G>A	c.(784-786)Gtg>Atg	p.V262M	EPM2A_uc003qkv.3_Missense_Mutation_p.V262M|EPM2A_uc010khr.3_Missense_Mutation_p.R181H|EPM2A_uc003qkx.3_Missense_Mutation_p.V124M|EPM2A_uc003qku.3_Missense_Mutation_p.V108M	NM_005670	NP_005661	O95278	EPM2A_HUMAN	Homo sapiens epilepsy, progressive myoclonus type 2A, Lafora disease (laforin) (EPM2A), transcript variant 1, mRNA.	262	Tyrosine-protein phosphatase.				glycogen metabolic process	cytosol|endoplasmic reticulum|nucleus|plasma membrane|polysome	carbohydrate binding|identical protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	7		Ovarian(120;0.162)		OV - Ovarian serous cystadenocarcinoma(155;3.38e-07)|GBM - Glioblastoma multiforme(68;0.0203)		TGCACGTACACGATGTGTCCC	0.607000												
MYBPHL	343263	broad.mit.edu	37	1	109840068	109840068	+	Missense_Mutation	SNP	C	C	T	rs34962971		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:109840068C>T	uc001dxk.1	-	2	456	c.406G>A	c.(406-408)Gcc>Acc	p.A136T	MYBPHL_uc010ovh.1_Intron|MYBPHL_uc001dxl.3_Intron	NM_001010985	NP_001010985	A2RUH7	MBPHL_HUMAN	Homo sapiens myosin binding protein H-like (MYBPHL), mRNA.	136	Ig-like C2-type 1.									central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2)	14		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)		TCAATGGTGGCGGTGGCCTCC	0.612000												
CACHD1	57685	broad.mit.edu	37	1	65138932	65138932	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:65138932A>G	uc001dbo.1	+	17	2554	c.2449A>G	c.(2449-2451)Acc>Gcc	p.T817A	CACHD1_uc001dbp.1_Missense_Mutation_p.T572A|CACHD1_uc001dbq.1_Missense_Mutation_p.T572A|CACHD1_uc010opa.1_Missense_Mutation_p.T61A	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN	Homo sapiens cache domain containing 1 (CACHD1), mRNA.	868	Cache 2.				calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GCAGCACATCACCCACAAGGT	0.522000												
QPCT	25797	broad.mit.edu	37	2	37594392	37594392	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:37594392G>A	uc002rqg.3	+	3	686	c.564G>A	c.(562-564)aaG>aaA	p.K188K		NM_012413	NP_036545	Q16769	QPCT_HUMAN	Homo sapiens glutaminyl-peptide cyclotransferase (QPCT), mRNA.	188					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	extracellular region	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17		Ovarian(717;0.051)|all_hematologic(82;0.21)				CAGACTCCAAGCCAGATTTGT	0.373000												
ENPEP	2028	broad.mit.edu	37	4	111470515	111470515	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:111470515G>A	uc003iab.4	+	14	2507	c.2165G>A	c.(2164-2166)gGt>gAt	p.G722D		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	722					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)	TACTTCCAAGGTCAAGTGAAG	0.328000												
PCDHAC2	56134	broad.mit.edu	37	5	140188422	140188422	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:140188422G>A	uc003lhi.2	+	0	1751	c.1650G>A	c.(1648-1650)acG>acA	p.T550T	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Silent_p.T550T|PCDHAC2_uc011daa.2_Silent_p.T550T	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	564	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAACGTGACGCTGCAGGTGT	0.662000												
SYCP2L	221711	broad.mit.edu	37	6	10924769	10924769	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:10924769G>A	uc003mzo.3	+	14	1409	c.1113G>A	c.(1111-1113)aaG>aaA	p.K371K	SYCP2L_uc011din.1_Silent_p.K212K|SYCP2L_uc010jow.3_5'UTR	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	Homo sapiens synaptonemal complex protein 2-like (SYCP2L), mRNA.	371						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			ACCTGAAGAAGCCCATGATTA	0.299000												
ZNF554	115196	broad.mit.edu	37	19	2834253	2834253	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:2834253C>T	uc002lwm.2	+	4	1218	c.1020C>T	c.(1018-1020)agC>agT	p.S340S	ZNF554_uc002lwl.2_Silent_p.S289S	NM_001102651	NP_001096121	Q86TJ5	ZN554_HUMAN	Homo sapiens zinc finger protein 554 (ZNF554), mRNA.	340					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATTCTTTGAGCGAACATCAAA	0.537000												
COL12A1	1303	broad.mit.edu	37	6	75839850	75839850	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:75839850C>A	uc021zbv.1	-	35	6202	c.6167G>T	c.(6166-6168)aGg>aTg	p.R2056M	COL12A1_uc021zbw.1_Missense_Mutation_p.R892M|COL12A1_uc003phs.3_Missense_Mutation_p.R2056M|COL12A1_uc003pht.3_Missense_Mutation_p.R892M	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	2056	Fibronectin type-III 16.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						ATAGATGATCCTGTACTGCTG	0.448000												
POFUT1	23509	broad.mit.edu	37	20	30803242	30803242	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:30803242G>A	uc002wxp.3	+	2	466	c.417G>A	c.(415-417)acG>acA	p.T139T	POFUT1_uc002wxo.3_Silent_p.T139T|POFUT1_uc010ztt.2_Silent_p.T31T|POFUT1_uc010ztu.2_Intron	NM_015352	NP_056167	Q9H488	OFUT1_HUMAN	Homo sapiens protein O-fucosyltransferase 1 (POFUT1), transcript variant 1, mRNA.	139					Notch signaling pathway|O-glycan processing|fucose metabolic process|regulation of transcription, DNA-dependent	endoplasmic reticulum|membrane	peptide-O-fucosyltransferase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	6			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			ATAAGAAGACGTGCCCCATGA	0.577000												
HTRA4	203100	broad.mit.edu	37	8	38832617	38832617	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:38832617G>A	uc003xmj.3	+	1	649	c.534G>A	c.(532-534)gcG>gcA	p.A178A		NM_153692	NP_710159	P83105	HTRA4_HUMAN	Homo sapiens HtrA serine peptidase 4 (HTRA4), mRNA.	178					proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity	p.A178V(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			AGAAGGTGGCGCCATCGGTGG	0.577000												
ACVR1B	91	broad.mit.edu	37	12	52385715	52385715	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:52385715C>T	uc010snn.2	+	8	1530	c.1453C>T	c.(1453-1455)Cga>Tga	p.R485*	ACVR1B_uc001rzm.3_Nonsense_Mutation_p.R444*|ACVR1B_uc001rzn.3_Nonsense_Mutation_p.R444*|ACVR1B_uc021qya.1_Nonsense_Mutation_p.R392*	NM_020328	NP_064733	P36896	ACV1B_HUMAN	Homo sapiens activin A receptor, type IB (ACVR1B), transcript variant 3, mRNA.	444	Protein kinase.				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	ATP binding|SMAD binding|activin receptor activity, type I|metal ion binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding	p.R485*(1)		breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	TGAGGAAATGCGAAAGGTTGT	0.488000												
OR52I2	143502	broad.mit.edu	37	11	4608901	4608901	+	Missense_Mutation	SNP	G	G	A	rs150458035	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:4608901G>A	uc010qyh.2	+	0	881	c.859G>A	c.(859-861)Gca>Aca	p.A287T		NM_001005170	NP_001005170	Q8NH67	O52I2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily I, member 2 (OR52I2), mRNA.	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACCTGGGATGGCATCCATCTA	0.522000												
ITPR1	3708	broad.mit.edu	37	3	4808340	4808340	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:4808340G>T	uc003bqc.3	+	43	5976	c.5626G>T	c.(5626-5628)Gga>Tga	p.G1876*	ITPR1_uc021wsi.1_Nonsense_Mutation_p.G1843*|ITPR1_uc021wsj.1_Nonsense_Mutation_p.G1828*|ITPR1_uc011asu.2_Intron	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	1891					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		CAGTGACTTGGGAAATAAAAA	0.428000												
RNASE4	6038	broad.mit.edu	37	14	21167643	21167643	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:21167643G>A	uc021rol.1	+	0	113	c.113G>A	c.(112-114)cGg>cAg	p.R38Q	RNASE4_uc001vxy.4_Missense_Mutation_p.R38Q|RNASE4_uc001vxx.4_Non-coding_Transcript|RNASE4_uc001vya.3_Missense_Mutation_p.R38Q	NM_194431	NP_919412	P34096	RNAS4_HUMAN	Homo sapiens ribonuclease, RNase A family, 4 (RNASE4), transcript variant 3, mRNA.	38					mRNA cleavage	extracellular region	nucleic acid binding|pancreatic ribonuclease activity			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_cancers(95;0.00304)		Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	GBM - Glioblastoma multiforme(265;0.0133)		CGATTCCTGCGGCAACACGTG	0.557000												
NEUROD4	58158	broad.mit.edu	37	12	55420335	55420335	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:55420335C>T	uc001sgp.4	+	1	490	c.112C>T	c.(112-114)Cca>Tca	p.P38S	NEUROD4_uc021qyr.1_Missense_Mutation_p.P38S	NM_021191	NP_067014	Q9HD90	NDF4_HUMAN	Homo sapiens neurogenic differentiation 4 (NEUROD4), mRNA.	38					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						AGAGAGCAGACCAGGTACTTA	0.468000												
GLRX3	10539	broad.mit.edu	37	10	131973264	131973264	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:131973264C>T	uc001lkn.2	+	9	914	c.868C>T	c.(868-870)Cgg>Tgg	p.R290W	GLRX3_uc001lkm.2_Missense_Mutation_p.R290W|GLRX3_uc001lko.3_Non-coding_Transcript|GLRX3_uc021qay.1_Missense_Mutation_p.R144W	NM_001199868	NP_001186797	O76003	GLRX3_HUMAN	Homo sapiens glutaredoxin 3 (GLRX3), transcript variant 1, mRNA.	290	Glutaredoxin 2.				cell redox homeostasis|negative regulation of cardiac muscle hypertrophy|regulation of the force of heart contraction	cell cortex	electron carrier activity|iron-sulfur cluster binding|metal ion binding|protein disulfide oxidoreductase activity			endometrium(1)|large_intestine(5)|lung(7)	13		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)		OV - Ovarian serous cystadenocarcinoma(35;0.00218)		TCTTTAGGTTCGGCAAGGATT	0.428000												
KCNQ5	56479	broad.mit.edu	37	6	73787158	73787158	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:73787158C>T	uc011dyh.2	+	3	1077	c.730C>T	c.(730-732)Cgc>Tgc	p.R244C	KCNQ5_uc003pgj.4_Missense_Mutation_p.R244C|KCNQ5_uc011dyi.2_Missense_Mutation_p.R244C|KCNQ5_uc010kat.3_Missense_Mutation_p.R244C|KCNQ5_uc003pgk.3_Missense_Mutation_p.R244C|KCNQ5_uc011dyj.2_Missense_Mutation_p.R244C|KCNQ5_uc011dyk.2_Missense_Mutation_p.R3C	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	244			R -> C (in a colorectal cancer sample; somatic mutation).		protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	p.R244C(4)|p.R244H(2)		breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		CCGCATGGTGCGCATGGACCG	0.438000												
TMEM106C	79022	broad.mit.edu	37	12	48361942	48361942	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:48361942G>A	uc001rqp.3	+	7	798	c.683G>A	c.(682-684)gGc>gAc	p.G228D	TMEM106C_uc001rqo.3_Missense_Mutation_p.G209D|TMEM106C_uc001rqr.3_Missense_Mutation_p.G228D|TMEM106C_uc001rqq.3_Missense_Mutation_p.G209D	NM_024056	NP_076961	Q9BVX2	T106C_HUMAN	Homo sapiens transmembrane protein 106C (TMEM106C), transcript variant 2, mRNA.	228						endoplasmic reticulum membrane|integral to membrane		p.G228>?(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(13;0.11)		GBM - Glioblastoma multiforme(48;0.241)		TCATACATTGGCCTCATGACC	0.413000												
PCYT1B	9468	broad.mit.edu	37	X	24608151	24608151	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:24608151C>T	uc004dbi.3	-	3	708	c.475G>A	c.(475-477)Gaa>Aaa	p.E159K	PCYT1B_uc004dbk.4_Missense_Mutation_p.E159K|PCYT1B_uc004dbj.3_Missense_Mutation_p.E141K	NM_004845	NP_004836	Q9Y5K3	PCY1B_HUMAN	Homo sapiens phosphate cytidylyltransferase 1, choline, beta (PCYT1B), transcript variant 1, mRNA.	159	Catalytic (Potential).					endoplasmic reticulum	choline-phosphate cytidylyltransferase activity			breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	TTGTGTTTTTCCAGAAACTCT	0.483000												
NSUN2	54888	broad.mit.edu	37	5	6607320	6607320	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:6607320C>T	uc003jdu.3	-	12	1882	c.1501G>A	c.(1501-1503)Gtg>Atg	p.V501M	NSUN2_uc003jdt.3_Missense_Mutation_p.V265M|NSUN2_uc011cmk.2_Missense_Mutation_p.V466M|NSUN2_uc003jdv.3_Missense_Mutation_p.V265M	NM_017755	NP_060225	Q08J23	NSUN2_HUMAN	Homo sapiens NOP2/Sun domain family, member 2 (NSUN2), transcript variant 1, mRNA.	501						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding	p.V501M(2)		breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						TACCCACACACGCCATCTTTC	0.443000												
MGAM	8972	broad.mit.edu	37	7	141796213	141796213	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:141796213C>T	uc003vwy.3	+	41	5056	c.5002C>T	c.(5002-5004)Cgt>Tgt	p.R1668C		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1668	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGTCCTGGAGCGTGTGAGTAT	0.582000												
MLH3	27030	broad.mit.edu	37	14	75516018	75516018	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:75516018T>G	uc001xrd.1	-	1	557	c.341A>C	c.(340-342)aAc>aCc	p.N114T	MLH3_uc001xre.1_Missense_Mutation_p.N114T|MLH3_uc010tuy.1_Non-coding_Transcript	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN	Homo sapiens mutL homolog 3 (E. coli) (MLH3), transcript variant 1, mRNA.	114					mismatch repair|reciprocal meiotic recombination	MutLbeta complex|chiasma|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		CATTGTCCTGTTTTTCTTGGA	0.448000								Mismatch excision repair (MMR)				
ZNF773	374928	broad.mit.edu	37	19	58018779	58018779	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:58018779G>A	uc002qox.3	+	3	1456	c.1316G>A	c.(1315-1317)gGa>gAa	p.G439E	ZNF773_uc002qoy.3_Missense_Mutation_p.G438E|ZNF773_uc021vcl.1_Intron	NM_198542	NP_940944	Q6PK81	ZN773_HUMAN	Homo sapiens zinc finger protein 773 (ZNF773), mRNA.	439					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		ATTCACACTGGAGAAATACAA	0.413000												
TRIM60	166655	broad.mit.edu	37	4	165962417	165962417	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:165962417C>T	uc003iqy.1	+	2	1363	c.1193C>T	c.(1192-1194)gCg>gTg	p.A398V	TRIM60_uc010iqx.1_Missense_Mutation_p.A398V|TRIM60_uc021xty.1_Missense_Mutation_p.A398V	NM_152620	NP_689833	Q495X7	TRI60_HUMAN	Homo sapiens tripartite motif containing 60 (TRIM60), mRNA.	398	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		GGTTATGTTGCGTCAGGTCCT	0.443000												
COL4A1	1282	broad.mit.edu	37	13	110859767	110859767	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:110859767C>T	uc001vqw.4	-	12	885	c.763G>A	c.(763-765)Gcc>Acc	p.A255T		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	255	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCCTTGGTGGCGAAGTCTCCT	0.413000												
GCM1	8521	broad.mit.edu	37	6	52996822	52996822	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:52996822G>A	uc003pbp.3	-	3	633	c.424C>T	c.(424-426)Cgc>Tgc	p.R142C	GCM1_uc010jzr.2_Missense_Mutation_p.R142C	NM_003643	NP_003634	Q9NP62	GCM1_HUMAN	Homo sapiens glial cells missing homolog 1 (Drosophila) (GCM1), mRNA.	142						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					AATATAAAGCGTCCGTCGTGC	0.502000												
NDST4	64579	broad.mit.edu	37	4	115997904	115997904	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:115997904C>T	uc003ibu.3	-	1	968	c.289G>A	c.(289-291)Gct>Act	p.A97T	NDST4_uc010imw.3_Intron	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	97	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TCCAAAATAGCTATGATATCT	0.433000												
KIAA1109	84162	broad.mit.edu	37	4	123258064	123258064	+	Silent	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:123258064A>G	uc003ieh.3	+	68	12084	c.12039A>G	c.(12037-12039)ggA>ggG	p.G4013G	KIAA1109_uc003iem.3_Silent_p.G369G|KIAA1109_uc003ien.3_5'Flank	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	4013					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		p.G4013V(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AAGATATGGGACATTTTGAAA	0.333000												
CCNI2	645121	broad.mit.edu	37	5	132086668	132086668	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:132086668G>A	uc011cxg.1	+	3	804	c.753G>A	c.(751-753)acG>acA	p.T251T	CCNI2_uc011cxh.1_Silent_p.T252T|CCNI2_uc003kxq.1_Silent_p.T251T|SEPT8_uc003kxr.2_3'UTR	NM_001039780	NP_001034869	Q6ZMN8	CCNI2_HUMAN	Homo sapiens cyclin I family, member 2 (CCNI2), mRNA.	251					regulation of cyclin-dependent protein kinase activity		protein kinase binding			haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATATTGGGACGCCGCTGGACT	0.488000												
FAM179A	165186	broad.mit.edu	37	2	29222106	29222106	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:29222106C>T	uc010ezl.3	+	3	550	c.199C>T	c.(199-201)Cgt>Tgt	p.R67C	FAM179A_uc010ymm.2_Missense_Mutation_p.R67C	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN	Homo sapiens family with sequence similarity 179, member A (FAM179A), mRNA.	67							binding	p.R67L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ACAGCTCCTGCGTGGACTCGG	0.617000												
ADAR	103	broad.mit.edu	37	1	154574691	154574691	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:154574691T>A	uc001ffh.3	-	1	669	c.427A>T	c.(427-429)Atc>Ttc	p.I143F	ADAR_uc021pag.1_5'UTR|ADAR_uc001ffj.3_Missense_Mutation_p.I143F|ADAR_uc001ffi.3_Missense_Mutation_p.I143F|ADAR_uc001ffk.3_5'UTR|ADAR_uc001ffl.1_5'UTR|ADAR_uc001ffm.1_Non-coding_Transcript|ADAR_uc001ffn.2_3'UTR	NM_001111	NP_001180424	P55265	DSRAD_HUMAN	Homo sapiens adenosine deaminase, RNA-specific (ADAR), transcript variant 1, mRNA.	143					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		AACTTTAAGATCCTTTGTTCC	0.483000												
SIGLEC1	6614	broad.mit.edu	37	20	3678463	3678463	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:3678463C>A	uc002wja.3	-	7	2104	c.2104G>T	c.(2104-2106)Gcc>Tcc	p.A702S	SIGLEC1_uc002wiz.4_Missense_Mutation_p.A702S	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	702	Ig-like C2-type 6.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						TTGAAGGTGGCTGAGGTGGAG	0.612000												
KAT5	10524	broad.mit.edu	37	11	65486194	65486194	+	Silent	SNP	C	C	T	rs114460328	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:65486194C>T	uc001ofi.3	+	11	1565	c.1299C>T	c.(1297-1299)agC>agT	p.S433S	KAT5_uc001ofj.3_Silent_p.S381S|KAT5_uc001ofk.3_Silent_p.S466S|KAT5_uc010roo.2_Silent_p.S414S|KAT5_uc001ofl.3_Silent_p.S222S|RNASEH2C_uc001ofm.3_Non-coding_Transcript|RNASEH2C_uc001ofn.3_3'UTR	NM_006388	NP_006379	Q92993	KAT5_HUMAN	Homo sapiens K(lysine) acetyltransferase 5 (KAT5), transcript variant 2, mRNA.	433					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|androgen receptor signaling pathway|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						AGTCGGAGAGCGGGGAGAGGC	0.597000												
CD37	951	broad.mit.edu	37	19	49842133	49842133	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:49842133G>A	uc002pnd.3	+	5	745	c.624G>A	c.(622-624)gcG>gcA	p.A208A	AK097351_uc002pnb.1_Intron|CD37_uc002pnc.3_Non-coding_Transcript|CD37_uc010yam.1_Silent_p.A208A|CD37_uc010yan.1_Silent_p.A140A|CD37_uc002pnf.3_Silent_p.A180A|CD37_uc002pne.3_Silent_p.A140A	NM_001774	NP_001035120	P11049	CD37_HUMAN	Homo sapiens CD37 molecule (CD37), transcript variant 1, mRNA.	208						integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	11		all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443)		GACACCTGGCGCGGTCCAGAC	0.607000												
C20orf96	140680	broad.mit.edu	37	20	257712	257712	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:257712C>T	uc002wde.2	-	7	966	c.798G>A	c.(796-798)aaG>aaA	p.K266K	C20orf96_uc021vzl.1_Silent_p.K265K|C20orf96_uc010zpi.2_Silent_p.K213K|C20orf96_uc010zpj.1_Silent_p.K231K|C20orf96_uc010zpk.2_Silent_p.K204K	NM_153269	NP_695001	Q9NUD7	CT096_HUMAN	Homo sapiens chromosome 20 open reading frame 96 (C20orf96), transcript variant 1, mRNA.	266	Poly-Lys.									endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12		all_cancers(10;0.00959)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			GAATTTTTTTCTTCTTCTTCT	0.557000												
GFPT2	9945	broad.mit.edu	37	5	179745956	179745956	+	Splice_Site	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:179745956G>A	uc003mlw.1	-	10	893	c.795_splice	c.e10-1	p.S265_splice		NM_005110	NP_005101	O94808	GFPT2_HUMAN	Homo sapiens glutamine-fructose-6-phosphate transaminase 2 (GFPT2), mRNA.	265	Glutamine amidotransferase type-2.				UDP-N-acetylglucosamine biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	CTATGATAGCGCTGGGGCAAG	0.602000												
STRN4	29888	broad.mit.edu	37	19	47225261	47225261	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:47225261C>T	uc002pfm.3	-	15	2128	c.2095G>A	c.(2095-2097)Gca>Aca	p.A699T	STRN4_uc002pfl.3_Missense_Mutation_p.A692T|STRN4_uc010xyf.2_Non-coding_Transcript	NM_001039877	NP_001034966	Q9NRL3	STRN4_HUMAN	Homo sapiens striatin, calmodulin binding protein 4 (STRN4), transcript variant 2, mRNA.	692						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		ATCAGGAATGCGCCGTTGGGG	0.627000												
UGT8	7368	broad.mit.edu	37	4	115544223	115544223	+	Missense_Mutation	SNP	G	G	A	rs114818124		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:115544223G>A	uc003ibs.2	+	1	709	c.187G>A	c.(187-189)Gcc>Acc	p.A63T	UGT8_uc003ibt.2_Missense_Mutation_p.A63T|UGT8_uc011cge.1_Non-coding_Transcript	NM_001128174	NP_003351	Q16880	CGT_HUMAN	Homo sapiens UDP glycosyltransferase 8 (UGT8), transcript variant 1, mRNA.	63					central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		CAGAGACATCGCCCCATCTAA	0.483000												
GDF6	392255	broad.mit.edu	37	8	97157131	97157131	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:97157131C>T	uc003yhp.3	-	1	1128	c.1028G>A	c.(1027-1029)gGc>gAc	p.G343D		NM_001001557	NP_001001557	Q6KF10	GDF6_HUMAN	Homo sapiens growth differentiation factor 6 (GDF6), mRNA.	343					BMP signaling pathway|activin receptor signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					GTGCCGCTTGCCATGGCGACT	0.721000												
POLQ	10721	broad.mit.edu	37	3	121228903	121228903	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:121228903G>A	uc003eee.4	-	10	1928	c.1799C>T	c.(1798-1800)gCc>gTc	p.A600V		NM_199420	NP_955452	O75417	DPOLQ_HUMAN	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.	600					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TCCATCACTGGCTTCTGTACT	0.413000								DNA polymerases (catalytic subunits)				
OBSCN	84033	broad.mit.edu	37	1	228467553	228467553	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:228467553G>A	uc009xez.1	+	27	7472	c.7428G>A	c.(7426-7428)gaG>gaA	p.E2476E	OBSCN_uc001hsn.3_Silent_p.E2476E|OBSCN_uc001hsp.1_Silent_p.E175E|OBSCN_uc001hsq.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	2476	Ig-like 24.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGCCGTTGGAGCCCAAGACAG	0.652000												
KLHDC7A	127707	broad.mit.edu	37	1	18808238	18808238	+	Missense_Mutation	SNP	G	G	A	rs145131334		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:18808238G>A	uc001bax.3	+	0	815	c.763G>A	c.(763-765)Gcc>Acc	p.A255T	KLHDC7A_uc009vpg.3_Missense_Mutation_p.A37T	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA.	255						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GCAGGAGGGCGCCCCCAACTC	0.612000												
KHNYN	23351	broad.mit.edu	37	14	24900835	24900835	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:24900835G>A	uc010tpc.2	+	2	507	c.491G>A	c.(490-492)gGc>gAc	p.G164D	KHNYN_uc001wph.4_Missense_Mutation_p.G123D|KHNYN_uc010alw.3_Missense_Mutation_p.G123D|CBLN3_uc001wpg.4_5'Flank	NM_015299	NP_056114	O15037	KHNYN_HUMAN	Homo sapiens KH and NYN domain containing (KHNYN), mRNA.	123										kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						ATGATCAGTGGCCTGACTGAA	0.617000											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
MDN1	23195	broad.mit.edu	37	6	90365627	90365627	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:90365627G>A	uc003pnn.1	-	91	15462	c.15346C>T	c.(15346-15348)Cgt>Tgt	p.R5116C		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	5116					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTGTGCACACGCTCATTGTGA	0.542000												
PCDH10	57575	broad.mit.edu	37	4	134073220	134073220	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:134073220G>A	uc003iha.3	+	0	2751	c.1925G>A	c.(1924-1926)cGc>cAc	p.R642H	BC040219_uc003igy.3_5'Flank|PCDH10_uc003igz.3_Missense_Mutation_p.R642H	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	Homo sapiens protocadherin 10 (PCDH10), transcript variant 1, mRNA.	642	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R642G(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CGCACAGCACGCCGAGTCCCG	0.672000												
ADSSL1	122622	broad.mit.edu	37	14	105208225	105208225	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:105208225C>T	uc001ypd.3	+	8	908	c.834C>T	c.(832-834)ggC>ggT	p.G278G	ADSSL1_uc001ype.3_Silent_p.G321G|ADSSL1_uc001ypf.3_Non-coding_Transcript	NM_152328	NP_689541	Q8N142	PURA1_HUMAN	Homo sapiens adenylosuccinate synthase like 1 (ADSSL1), transcript variant 2, mRNA.	278					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	GTP binding|adenylosuccinate synthase activity|magnesium ion binding|phosphate binding			central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	L-Aspartic Acid(DB00128)	GCACCGTGGGCGGTGTGTGCA	0.602000												
USP51	158880	broad.mit.edu	37	X	55514472	55514472	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:55514472C>T	uc022bxu.1	-	0	901	c.901G>A	c.(901-903)Gcc>Acc	p.A301T	USP51_uc004dun.2_Missense_Mutation_p.A301T	NM_201286	NP_958443	Q70EK9	UBP51_HUMAN	Homo sapiens ubiquitin specific peptidase 51 (USP51), mRNA.	301					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						GTTTCTTTGGCAATCTGTTCT	0.343000												
TGFA	7039	broad.mit.edu	37	2	70692857	70692857	+	Missense_Mutation	SNP	C	C	T	rs147786817	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:70692857C>T	uc002sgs.4	-	2	354	c.106G>A	c.(106-108)Gtg>Atg	p.V36M	TGFA_uc010fdq.3_Missense_Mutation_p.V42M|TGFA_uc010fdr.3_Missense_Mutation_p.V41M|TGFA_uc002sgt.4_Missense_Mutation_p.V35M|TGFA_uc002sgu.3_Missense_Mutation_p.V35M|TGFA_uc002sgv.3_Missense_Mutation_p.V36M|TGFA_uc002sgw.3_Missense_Mutation_p.V35M	NM_003236	NP_003227	P01135	TGFA_HUMAN	Homo sapiens transforming growth factor, alpha (TGFA), transcript variant 1, mRNA.	36					activation of MAPK activity|cell proliferation|positive regulation of cell division|positive regulation of epidermal growth factor receptor activity|positive regulation of epithelial cell proliferation|positive regulation of mitosis	cell surface|extracellular space|integral to membrane|plasma membrane	MAP kinase kinase activity|epidermal growth factor receptor binding|growth factor activity|signal transducer activity			haematopoietic_and_lymphoid_tissue(1)|lung(2)|prostate(1)	4						GCTGCAGCCACGGGCGGGTCT	0.567000												
TOP2B	7155	broad.mit.edu	37	3	25668727	25668727	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:25668727C>T	uc011awn.1	-	15	2010	c.1967G>A	c.(1966-1968)cGc>cAc	p.R656H	TOP2B_uc003cdj.2_Missense_Mutation_p.R651H|TOP2B_uc021wug.1_Missense_Mutation_p.R651H	NM_001068	NP_001059	Q02880	TOP2B_HUMAN	Homo sapiens topoisomerase (DNA) II beta 180kDa (TOP2B), mRNA.	656					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	DNA topoisomerase complex (ATP-hydrolyzing)|WINAC complex|cytosol|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|chromatin binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity	p.R651H(2)		breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						AAACAAGATGCGATGCCTTTC	0.353000												
KIF5C	3800	broad.mit.edu	37	2	149853828	149853828	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:149853828C>T	uc010zbu.2	+	17	2469	c.2074C>T	c.(2074-2076)Cgg>Tgg	p.R692W	KIF5C_uc002tws.1_Non-coding_Transcript|KIF5C_uc002twt.3_Missense_Mutation_p.R244W|KIF5C_uc002twu.1_5'Flank	NM_004522	NP_004513	O60282	KIF5C_HUMAN	Homo sapiens kinesin family member 5C (KIF5C), mRNA.	692					microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	p.E692*(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		ACATCTGACGCGGTTGCAGGA	0.433000												
KIAA1033	23325	broad.mit.edu	37	12	105531765	105531765	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:105531765G>C	uc010swr.2	+	14	1518	c.1431G>C	c.(1429-1431)ttG>ttC	p.L477F	KIAA1033_uc001tld.3_Missense_Mutation_p.L476F|KIAA1033_uc010sws.2_Missense_Mutation_p.L288F	NM_015275	NP_056090	Q2M389	WAHS7_HUMAN	Homo sapiens KIAA1033 (KIAA1033), mRNA.	476					endosome transport	WASH complex				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						TTAAGGCATTGTGCAGGCTTG	0.358000												
TPST2	8459	broad.mit.edu	37	22	26937372	26937372	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:26937372G>A	uc003acw.3	-	2	566	c.225C>T	c.(223-225)ggC>ggT	p.G75G	TPST2_uc003acx.3_Silent_p.G75G|TPST2_uc011akf.1_Silent_p.G75G	NM_001008566	NP_003586	O60704	TPST2_HUMAN	Homo sapiens tyrosylprotein sulfotransferase 2 (TPST2), transcript variant 1, mRNA.	75					peptidyl-tyrosine sulfation	Golgi membrane|endoplasmic reticulum|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			central_nervous_system(1)|large_intestine(1)|lung(5)	7						TGCGAGGCACGCCACCCACGA	0.687000												
MYCL1	4610	broad.mit.edu	37	1	40363547	40363547	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:40363547G>A	uc001cer.2	-	2	809	c.682C>T	c.(682-684)Ccc>Tcc	p.P228S	MYCL1_uc001ces.2_Missense_Mutation_p.P198S	NM_001033082	NP_001028253	P12524	MYCL1_HUMAN	Homo sapiens v-myc myelocytomatosis viral oncogene homolog 1, lung carcinoma derived (avian) (MYCL1), transcript variant 2, mRNA.	198						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			liver(1)|lung(1)	2	all_cancers(7;1.73e-14)|all_lung(5;2.77e-17)|all_epithelial(6;6.81e-17)|Lung SC(1;2.85e-13)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.51e-19)|Epithelial(16;3.36e-18)|all cancers(16;8.43e-17)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TTCATGCAGGGATCCAGGGGG	0.517000			A		small cell lung							
TRAPPC9	83696	broad.mit.edu	37	8	141321405	141321405	+	Missense_Mutation	SNP	C	C	T	rs148453804	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:141321405C>T	uc003yvh.2	-	9	1873	c.1858G>A	c.(1858-1860)Gcc>Acc	p.A620T	TRAPPC9_uc003yvj.2_Missense_Mutation_p.A522T|TRAPPC9_uc003yvi.1_Missense_Mutation_p.A513T	NM_031466	NP_001153844	Q96Q05	TPPC9_HUMAN	Homo sapiens trafficking protein particle complex 9 (TRAPPC9), transcript variant 1, mRNA.	522					cell differentiation	Golgi apparatus|endoplasmic reticulum				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						CCAGGGAGGGCGATGGGCTCC	0.552000												
EGFR	1956	broad.mit.edu	37	7	55214312	55214312	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:55214312C>T	uc003tqk.3	+	3	684	c.438C>T	c.(436-438)ggC>ggT	p.G146G	EGFR_uc003tqh.3_Silent_p.G146G|EGFR_uc003tqi.3_Silent_p.G146G|EGFR_uc003tqj.3_Silent_p.G146G|EGFR_uc022adm.1_Silent_p.G146G|EGFR_uc010kzg.2_Intron|EGFR_uc022adn.1_Intron|EGFR_uc011kco.2_Silent_p.G93G	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	146					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TCCTGCATGGCGCCGTGCGGT	0.527000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
PSD3	23362	broad.mit.edu	37	8	18725364	18725364	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:18725364C>T	uc003wza.3	-	3	1557	c.1454G>A	c.(1453-1455)cGc>cAc	p.R485H		NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 3 (PSD3), transcript variant 1, mRNA.	485					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	p.R485H(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		TTCTTTAATGCGCTGTTGTAT	0.463000												
SLC12A9	56996	broad.mit.edu	37	7	100459098	100459098	+	Silent	SNP	C	C	T	rs113249714	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:100459098C>T	uc003uwp.3	+	10	1570	c.1428C>T	c.(1426-1428)ggC>ggT	p.G476G	SLC12A9_uc003uwq.3_Silent_p.G387G|SLC12A9_uc011kki.2_Silent_p.G7G|SLC12A9_uc003uwr.3_Silent_p.G212G|SLC12A9_uc003uws.3_Silent_p.G7G|SLC12A9_uc003uwt.3_Silent_p.G212G|SLC12A9_uc003uwv.3_Silent_p.G7G	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 9 (SLC12A9), mRNA.	476						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					TCAGTCCTGGCGCGGCTGGTG	0.667000												
LTA4H	4048	broad.mit.edu	37	12	96409440	96409440	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:96409440C>T	uc001ten.1	-	10	1048	c.980G>A	c.(979-981)cGc>cAc	p.R327H	LTA4H_uc010suy.1_Missense_Mutation_p.R289H|LTA4H_uc010suz.1_Missense_Mutation_p.R289H|LTA4H_uc010sva.1_Non-coding_Transcript|LTA4H_uc009ztj.3_5'Flank	NM_000895	NP_000886	P09960	LKHA4_HUMAN	Homo sapiens leukotriene A4 hydrolase (LTA4H), mRNA.	327					hormone biosynthetic process|inflammatory response|leukotriene biosynthetic process|peptide catabolic process|prostanoid metabolic process|proteolysis	cytosol|nucleus	aminopeptidase activity|epoxide hydrolase activity|leukotriene-A4 hydrolase activity|metallopeptidase activity|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12						GCAAATGTGGCGTTCCAAGTA	0.363000											OREG0022040	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CRB2	286204	broad.mit.edu	37	9	126132504	126132504	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:126132504G>A	uc004bnx.1	+	6	1264	c.1172G>A	c.(1171-1173)cGc>cAc	p.R391H	CRB2_uc004bnw.1_Missense_Mutation_p.R391H	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	Homo sapiens crumbs homolog 2 (Drosophila) (CRB2), mRNA.	391	EGF-like 8; calcium-binding (Potential).					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						TGGGGTGGGCGCGACTGTTCT	0.627000												
EEF2K	29904	broad.mit.edu	37	16	22260086	22260086	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:22260086G>A	uc002dki.3	+	3	843	c.358G>A	c.(358-360)Gtc>Atc	p.V120I	EEF2K_uc002dkh.3_Non-coding_Transcript	NM_013302	NP_037434	O00418	EF2K_HUMAN	Homo sapiens eukaryotic elongation factor-2 kinase (EEF2K), mRNA.	120	Alpha-type protein kinase.				insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		GTACAACGCCGTCACCGGGGA	0.572000												
ZNF114	163071	broad.mit.edu	37	19	48790081	48790081	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:48790081G>A	uc002pil.1	+	5	1697	c.1200G>A	c.(1198-1200)tcG>tcA	p.S400S	ZNF114_uc010elv.1_Silent_p.S400S|ZNF114_uc002pim.1_Silent_p.S400S|ZNF114_uc002pin.2_Silent_p.S366S	NM_153608	NP_705836	Q8NC26	ZN114_HUMAN	Homo sapiens zinc finger protein 114 (ZNF114), mRNA.	400					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S400S(2)		endometrium(1)|large_intestine(6)|lung(11)	18		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)		TTGCAAAGTCGTCAGGACTTA	0.373000												
CENPC1	1060	broad.mit.edu	37	4	68380247	68380247	+	Missense_Mutation	SNP	C	C	T	rs139483291	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:68380247C>T	uc003hdd.1	-	7	1172	c.989G>A	c.(988-990)cGc>cAc	p.R330H	CENPC1_uc010ihj.1_Non-coding_Transcript|CENPC1_uc010ihk.1_Non-coding_Transcript|CENPC1_uc010ihm.1_Missense_Mutation_p.R330H	NM_001812	NP_001803	Q03188	CENPC_HUMAN	Homo sapiens centromere protein C 1 (CENPC1), mRNA.	330					mitotic prometaphase	condensed chromosome kinetochore|condensed nuclear chromosome, centromeric region|cytosol	DNA binding			NS(1)|breast(1)|kidney(5)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	23						GGATATTGTGCGTTGTTTCAG	0.388000												
RASA2	5922	broad.mit.edu	37	3	141231095	141231095	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:141231095G>A	uc010huq.1	+	1	224	c.224G>A	c.(223-225)cGt>cAt	p.R75H	RASA2_uc003etz.1_Missense_Mutation_p.R75H|RASA2_uc003eua.1_Missense_Mutation_p.R75H	NM_006506	NP_006497	Q15283	RASA2_HUMAN	Homo sapiens RAS p21 protein activator 2 (RASA2), mRNA.	75	C2 1.				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	Ras GTPase activator activity|metal ion binding	p.R75H(2)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						GAAGTTTATCGTACCCAAGTT	0.308000												
TOM1L2	146691	broad.mit.edu	37	17	17766053	17766053	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:17766053C>T	uc002grz.4	-	10	1351	c.1194G>A	c.(1192-1194)caG>caA	p.Q398Q	TOM1L2_uc002gry.4_Silent_p.Q348Q|TOM1L2_uc010vwy.2_Silent_p.Q345Q|TOM1L2_uc010cpr.3_Silent_p.Q353Q|TOM1L2_uc010vwz.2_Silent_p.Q250Q|TOM1L2_uc010vxa.2_Silent_p.Q300Q|TOM1L2_uc002grv.4_Silent_p.Q131Q	NM_001082968	NP_001076437	Q6ZVM7	TM1L2_HUMAN	Homo sapiens target of myb1-like 2 (chicken) (TOM1L2), transcript variant 3, mRNA.	398					intracellular protein transport	intracellular				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					ACGTCTTGCGCTGCTCAGCCA	0.527000												
KDM4B	23030	broad.mit.edu	37	19	5041189	5041189	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:5041189G>A	uc010xim.2	+	3	467	c.359G>A	c.(358-360)cGc>cAc	p.R120H	KDM4B_uc010xil.1_Missense_Mutation_p.R120H|KDM4B_uc002mbq.4_Missense_Mutation_p.R120H	NM_015015	NP_055830	O94953	KDM4B_HUMAN	Homo sapiens lysine (K)-specific demethylase 4B (KDM4B), mRNA.	120					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GACCTTGAACGCAAATACTGG	0.552000												
RSBN1L	222194	broad.mit.edu	37	7	77407902	77407902	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:77407902G>A	uc010ldt.1	+	7	2002	c.1958G>A	c.(1957-1959)cGc>cAc	p.R653H		NM_198467	NP_940869	Q6PCB5	RSBNL_HUMAN	Homo sapiens round spermatid basic protein 1-like (RSBN1L), mRNA.	653						nucleus				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GAAGGCATTCGCTATGCCAGG	0.348000												
CFB	629	broad.mit.edu	37	6	31915615	31915615	+	Missense_Mutation	SNP	G	G	A	rs145082719		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:31915615G>A	uc003nyj.4	+	4	1033	c.755G>A	c.(754-756)gGc>gAc	p.G252D	CFB_uc011dor.2_Missense_Mutation_p.G754D|CFB_uc003nyi.2_Missense_Mutation_p.G252D	NM_001710	NP_001701	P00751	CFAB_HUMAN	Homo sapiens complement factor B (CFB), mRNA.	252			G -> S (in dbSNP:rs4151651).		complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						GATGGGCACGGCCCAGGTTTG	0.567000												
YTHDF3	253943	broad.mit.edu	37	8	64099768	64099768	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:64099768C>A	uc003xuy.3	+	4	1512	c.1196C>A	c.(1195-1197)gCc>gAc	p.A399D	YTHDF3_uc010lys.3_Missense_Mutation_p.A344D|YTHDF3_uc003xuz.3_Missense_Mutation_p.A344D|YTHDF3_uc003xva.3_Missense_Mutation_p.A344D|YTHDF3_uc011len.2_Missense_Mutation_p.A344D	NM_152758	NP_689971	Q7Z739	YTHD3_HUMAN	Homo sapiens YTH domain family, member 3 (YTHDF3), mRNA.	400												Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	BRCA - Breast invasive adenocarcinoma(89;0.161)			AAGCTAAAGGCCATAAACAAC	0.408000												
BCO2	83875	broad.mit.edu	37	11	112071486	112071486	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:112071486G>A	uc001pnf.3	+	6	1133	c.1016G>A	c.(1015-1017)cGc>cAc	p.R339H	BCO2_uc001pne.1_Missense_Mutation_p.R166H|BCO2_uc001png.3_Missense_Mutation_p.R266H|BCO2_uc001pnh.3_Missense_Mutation_p.R305H|BCO2_uc010rwt.2_Missense_Mutation_p.R234H|BCO2_uc009yyn.3_Missense_Mutation_p.R305H|BCO2_uc001pni.3_Missense_Mutation_p.R305H	NM_031938	NP_001032367	Q9BYV7	BCDO2_HUMAN	Homo sapiens beta-carotene oxygenase 2 (BCO2), transcript variant 1, mRNA.	339					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						GTGGAAAAACGCACTGGACAG	0.388000												
RBM28	55131	broad.mit.edu	37	7	127964664	127964664	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:127964664C>T	uc003vmp.2	-	11	1402	c.1287G>A	c.(1285-1287)acG>acA	p.T429T	RBM28_uc011koj.1_Silent_p.T288T|RBM28_uc011kok.1_Silent_p.T376T	NM_018077	NP_060547	Q9NW13	RBM28_HUMAN	Homo sapiens RNA binding motif protein 28 (RBM28), transcript variant 1, mRNA.	429					RNA splicing|mRNA processing	Golgi apparatus|nucleolus|spliceosomal complex	RNA binding|nucleotide binding			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						TCTTCACCTTCGTCGTCTGAA	0.562000												
NAE1	8883	broad.mit.edu	37	16	66852491	66852491	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:66852491C>T	uc002eqf.3	-	7	638	c.561G>A	c.(559-561)aaG>aaA	p.K187K	NAE1_uc002eqe.3_Silent_p.K181K|NAE1_uc002eqg.3_Silent_p.K98K|NAE1_uc010cdv.3_Silent_p.K190K|NAE1_uc010cdw.1_Silent_p.K98K	NM_003905	NP_001018170	Q13564	ULA1_HUMAN	Homo sapiens NEDD8 activating enzyme E1 subunit 1 (NAE1), transcript variant 1, mRNA.	187					DNA replication|apoptosis|cell cycle|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction	cytoplasm|insoluble fraction|plasma membrane	catalytic activity|protein heterodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	Adenosine triphosphate(DB00171)	CAGGAAATGGCTTATCTAGTC	0.313000												
ACACB	32	broad.mit.edu	37	12	109687849	109687849	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:109687849C>T	uc001tob.3	+	40	5849	c.5730C>T	c.(5728-5730)ggC>ggT	p.G1910G	ACACB_uc001toc.3_Silent_p.G1910G|ACACB_uc010sxl.1_Non-coding_Transcript|ACACB_uc001tod.3_Non-coding_Transcript|ACACB_uc010sxm.2_Silent_p.G576G	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	1910	Carboxyltransferase.				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	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|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)	ATCTGAGGGGCTCAGGCATGA	0.483000												
KDM5A	5927	broad.mit.edu	37	12	416652	416652	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:416652G>A	uc001qif.1	-	22	4261	c.3898C>T	c.(3898-3900)Ctc>Ttc	p.L1300F		NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	Homo sapiens lysine (K)-specific demethylase 5A (KDM5A), mRNA.	1300					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						GCTTTTTGGAGTTCTGCACTG	0.413000			T	NUP98	AML							
WASF1	8936	broad.mit.edu	37	6	110421800	110421800	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:110421800C>T	uc003ptv.1	-	10	2442	c.1605G>A	c.(1603-1605)ctG>ctA	p.L535L	WASF1_uc003ptw.1_Silent_p.L535L|WASF1_uc003ptx.1_Silent_p.L535L|WASF1_uc003pty.1_Silent_p.L535L	NM_003931	NP_003922	Q92558	WASF1_HUMAN	Homo sapiens WAS protein family, member 1 (WASF1), transcript variant 1, mRNA.	535					actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		TACGGCGAGACAGGATGGTGG	0.393000												
ACADSB	36	broad.mit.edu	37	10	124800157	124800157	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:124800157C>T	uc001lhb.3	+	3	596	c.479C>T	c.(478-480)gCc>gTc	p.A160V	ACADSB_uc010qub.2_Missense_Mutation_p.A58V	NM_001609	NP_001600	P45954	ACDSB_HUMAN	Homo sapiens acyl-CoA dehydrogenase, short/branched chain (ACADSB), nuclear gene encoding mitochondrial protein, mRNA.	160					branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)	GAACAAAAGGCCACCTATTTG	0.348000												
PLXNA4	91584	broad.mit.edu	37	7	131829950	131829950	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:131829950T>A	uc003vra.4	-	28	5382	c.5153A>T	c.(5152-5154)gAc>gTc	p.D1718V	PLXNA4_uc003vqz.4_Missense_Mutation_p.D3V	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1718						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						ATCCAGGAAGTCAAACATGTA	0.557000												
PHF20L1	51105	broad.mit.edu	37	8	133806768	133806768	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:133806768C>T	uc003ytt.3	+	2	521	c.196C>T	c.(196-198)Cga>Tga	p.R66*	PHF20L1_uc003ytr.3_Nonsense_Mutation_p.R66*|PHF20L1_uc010mdv.3_Nonsense_Mutation_p.R66*|PHF20L1_uc003yts.3_Nonsense_Mutation_p.R66*|PHF20L1_uc011lja.2_Nonsense_Mutation_p.R66*|PHF20L1_uc003ytu.1_Non-coding_Transcript	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	Homo sapiens PHD finger protein 20-like 1 (PHF20L1), transcript variant 1, mRNA.	66	Tudor 1.						nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			CAATAGATTGCGACCCCTTGA	0.403000												
CLSTN2	64084	broad.mit.edu	37	3	140167437	140167437	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:140167437C>T	uc003etn.3	+	5	1054	c.864C>T	c.(862-864)tgC>tgT	p.C288C	CLSTN2_uc003etm.2_Silent_p.C288C	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	Homo sapiens calsyntenin 2 (CLSTN2), mRNA.	288					homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TGGAGACGTGCGATGGAGCCG	0.532000										HNSCC(16;0.037)		
UBR4	23352	broad.mit.edu	37	1	19478277	19478277	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:19478277G>A	uc001bbi.3	-	47	7077	c.7073C>T	c.(7072-7074)aCt>aTt	p.T2358I	UBR4_uc001bbk.1_Missense_Mutation_p.T12I|UBR4_uc001bbl.1_Missense_Mutation_p.T295I|UBR4_uc001bbm.1_Missense_Mutation_p.T1570I	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	2358					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)		TATTGCTTGAGTCCCAATCTG	0.512000												
SCUBE1	80274	broad.mit.edu	37	22	43634953	43634953	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:43634953G>A	uc003bdt.2	-	6	862	c.735C>T	c.(733-735)tgC>tgT	p.C245C	SCUBE1_uc003bdu.2_Silent_p.C275C	NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 1 (SCUBE1), mRNA.	245	EGF-like 5 (Potential).|EGF-like 6 (Potential).				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity	p.T244M(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				TATTGACTGCGCACGTCTCTG	0.577000												
CCDC108	255101	broad.mit.edu	37	2	219895460	219895460	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:219895460G>A	uc002vjl.1	-	8	1196	c.1112C>T	c.(1111-1113)gCt>gTt	p.A371V	CCDC108_uc010fwa.1_5'Flank|CCDC108_uc010zkp.1_Missense_Mutation_p.A360V|CCDC108_uc010zkq.1_Missense_Mutation_p.A306V	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	371						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)		GCAGCCCACAGCAACAGAGCC	0.627000												
IL16	3603	broad.mit.edu	37	15	81598350	81598350	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:81598350G>A	uc021ssh.1	+	15	3623	c.3522G>A	c.(3520-3522)acG>acA	p.T1174T	IL16_uc010blq.1_Silent_p.T1128T|IL16_uc002bge.4_Non-coding_Transcript|IL16_uc010unp.2_Silent_p.T1216T|IL16_uc002bgg.3_Silent_p.T1174T|IL16_uc002bgi.1_Silent_p.T564T|IL16_uc002bgj.3_Silent_p.T668T|IL16_uc021ssi.1_Silent_p.T473T|IL16_uc002bgl.1_Silent_p.T473T|IL16_uc010unq.1_Silent_p.T473T	NM_172217	NP_757366	Q14005	IL16_HUMAN	Homo sapiens interleukin 16 (IL16), transcript variant 2, mRNA.	1174	Interaction with PPP1R12A, PPP1R12B and PPP1R12C.|PDZ 3.				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						AGGGGACCACGCACCATGATG	0.557000												
OR2T4	127074	broad.mit.edu	37	1	248525590	248525590	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:248525590C>T	uc001ieh.1	+	0	708	c.708C>T	c.(706-708)gtC>gtT	p.V236V		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 4 (OR2T4), mRNA.	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGTGCTGTGTCCTCATGCTCC	0.483000												
PARP6	56965	broad.mit.edu	37	15	72549731	72549731	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:72549731G>A	uc002auc.3	-	11	1416	c.957C>T	c.(955-957)ggC>ggT	p.G319G	PARP6_uc002aua.3_Silent_p.G164G|PARP6_uc002aub.3_Non-coding_Transcript|PARP6_uc002aud.4_Non-coding_Transcript|PARP6_uc002auf.1_Silent_p.G319G	NM_020214	NP_064599	Q2NL67	PARP6_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 6 (PARP6), mRNA.	319							NAD+ ADP-ribosyltransferase activity	p.G319G(2)|p.L318L(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						CAGACATGACGCCCAGTGTGT	0.527000												
DNAH10	196385	broad.mit.edu	37	12	124337847	124337847	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:124337847C>T	uc001uft.4	+	34	6057	c.6032C>T	c.(6031-6033)tCg>tTg	p.S2011L		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	2011	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GCCCTGAAATCGGTGCTGGTC	0.527000												
MIER2	54531	broad.mit.edu	37	19	312230	312230	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:312230C>T	uc002lok.1	-	8	859	c.850G>A	c.(850-852)Gcc>Acc	p.A284T		NM_017550	NP_060020	Q8N344	MIER2_HUMAN	Homo sapiens mesoderm induction early response 1, family member 2 (MIER2), mRNA.	284	ELM2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTCGCAGGGCCTCCTCCACA	0.622000												
ITGB1BP1	9270	broad.mit.edu	37	2	9548269	9548269	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:9548269G>A	uc002qzj.3	-	4	531	c.354C>T	c.(352-354)ggC>ggT	p.G118G	ITGB1BP1_uc002qzm.3_Non-coding_Transcript|ITGB1BP1_uc002qzk.3_Silent_p.G118G|ITGB1BP1_uc002qzl.3_Non-coding_Transcript|ITGB1BP1_uc010yiy.2_Silent_p.G74G|ITGB1BP1_uc002qzn.1_Silent_p.G118G	NM_004763	NP_004754	O14713	ITBP1_HUMAN	Homo sapiens integrin beta 1 binding protein 1 (ITGB1BP1), transcript variant 1, mRNA.	118	PID.				cell migration|cell-matrix adhesion|intracellular protein kinase cascade	cytosol|lamellipodium|membrane|ruffle	protein binding			kidney(2)|large_intestine(2)|lung(2)|prostate(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.23)		ATACTTTTATGCCATACTTGG	0.308000												
RNF19A	25897	broad.mit.edu	37	8	101271043	101271043	+	Missense_Mutation	SNP	C	C	T	rs34606154		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:101271043C>T	uc003yjj.1	-	10	2575	c.2258G>A	c.(2257-2259)cGc>cAc	p.R753H	RNF19A_uc003yjk.1_Missense_Mutation_p.R753H	NM_015435	NP_904355	Q9NV58	RN19A_HUMAN	Homo sapiens ring finger protein 19A (RNF19A), transcript variant 2, mRNA.	753	Interaction with CASR.				microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			AGTAGCAAAGCGGGTGTGATA	0.408000												
USP34	9736	broad.mit.edu	37	2	61415812	61415812	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:61415812G>A	uc002sbe.3	-	79	10088	c.10066C>T	c.(10066-10068)Cgt>Tgt	p.R3356C	USP34_uc002sbd.3_Missense_Mutation_p.R158C	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA.	3356					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.R3356P(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CTGCTAACACGCCGCCTTTTA	0.478000												
ARNTL	406	broad.mit.edu	37	11	13402723	13402723	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:13402723G>A	uc001mkr.3	+	17	1947	c.1539G>A	c.(1537-1539)tcG>tcA	p.S513S	ARNTL_uc001mko.3_Silent_p.S469S|ARNTL_uc001mkp.3_Silent_p.S512S|ARNTL_uc001mkq.3_Silent_p.S512S|ARNTL_uc001mks.3_Silent_p.S470S|ARNTL_uc001mkt.3_Silent_p.S513S|ARNTL_uc001mkw.3_Silent_p.S470S|ARNTL_uc001mkx.3_Silent_p.S511S|ARNTL_uc001mky.3_Silent_p.S51S	NM_001178	NP_001169	O00327	BMAL1_HUMAN	Homo sapiens aryl hydrocarbon receptor nuclear translocator-like (ARNTL), transcript variant 1, mRNA.	513				SP -> LR (in Ref. 2; AAC51213).	circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|Hsp90 protein binding|aryl hydrocarbon receptor 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)		GAGGGTCATCGCCTTCTAGCT	0.478000												
RERE	473	broad.mit.edu	37	1	8425885	8425885	+	Silent	SNP	C	C	T	rs139440766		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:8425885C>T	uc001ape.3	-	13	2244	c.1434G>A	c.(1432-1434)ccG>ccA	p.P478P	RERE_uc001apf.3_Silent_p.P478P|RERE_uc010nzx.1_Silent_p.P210P|RERE_uc001apd.3_5'UTR	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	478					NLS-bearing substrate import into nucleus|multicellular organismal development	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		ATTCACTGGACGGGGGTCTGG	0.637000												
SPAG17	200162	broad.mit.edu	37	1	118634571	118634571	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:118634571G>A	uc001ehk.2	-	8	1296	c.1228C>T	c.(1228-1230)Ccg>Tcg	p.P410S		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	410						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GGAGCTTGCGGTTCTTCATAC	0.448000												
SEMA3B	7869	broad.mit.edu	37	3	50314079	50314079	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:50314079G>A	uc003cyu.3	+	18	2431	c.2189G>A	c.(2188-2190)aGg>aAg	p.R730K	SEMA3B_uc003cyt.3_Missense_Mutation_p.R729K|SEMA3B_uc003cyv.3_Missense_Mutation_p.R618K|SEMA3B_uc003cyw.3_Missense_Mutation_p.R454K|SEMA3B_uc010hli.3_Missense_Mutation_p.R623K|SEMA3B_uc003cyx.3_Missense_Mutation_p.R617K|SEMA3B_uc003cyy.3_Missense_Mutation_p.R388K|SEMA3B_uc011bdo.2_Missense_Mutation_p.R388K|C3orf45_uc003cyz.3_5'Flank	NM_004636	NP_004627	Q13214	SEM3B_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B (SEMA3B), transcript variant 1, mRNA.	731	Arg-rich (basic).				axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity			central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		CGTAACCGGAGGACCCACGCC	0.721000												
NTRK3	4916	broad.mit.edu	37	15	88483952	88483952	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:88483952G>T	uc002bme.2	-	14	1924	c.1618C>A	c.(1618-1620)Ctg>Atg	p.L540M	NTRK3_uc002bmh.2_Missense_Mutation_p.L532M|NTRK3_uc002bmf.2_Missense_Mutation_p.L540M|NTRK3_uc021sua.1_Missense_Mutation_p.L532M|NTRK3_uc010upl.1_Missense_Mutation_p.L442M|NTRK3_uc010bnh.1_Missense_Mutation_p.L532M	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA.	540	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TCTCGCTTCAGCACGATGTCT	0.537000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)		
MAPK9	5601	broad.mit.edu	37	5	179676011	179676011	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:179676011G>A	uc003mls.4	-	5	849	c.578C>T	c.(577-579)gCg>gTg	p.A193V	MAPK9_uc003mlv.4_Missense_Mutation_p.A193V|MAPK9_uc003mlt.4_Missense_Mutation_p.A193V|MAPK9_uc010jlc.3_Missense_Mutation_p.A193V|MAPK9_uc021yji.1_Missense_Mutation_p.A167V|MAPK9_uc021yjj.1_Missense_Mutation_p.A193V|MAPK9_uc021yjk.1_Missense_Mutation_p.A193V|MAPK9_uc021yjl.1_Missense_Mutation_p.A193V|MAPK9_uc011dgx.2_Missense_Mutation_p.A193V	NM_002752	NP_002743	P45984	MK09_HUMAN	Homo sapiens mitogen-activated protein kinase 9 (MAPK9), transcript variant JNK2-a2, mRNA.	193	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding	p.A193V(3)|p.R192L(1)		central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GACTTCGGGCGCCCGGTAGTA	0.552000												
ITPR1	3708	broad.mit.edu	37	3	4703860	4703860	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:4703860C>T	uc003bqc.3	+	13	1651	c.1301C>T	c.(1300-1302)gCc>gTc	p.A434V	ITPR1_uc021wsi.1_Missense_Mutation_p.A449V|ITPR1_uc021wsj.1_Missense_Mutation_p.A434V|ITPR1_uc011asu.2_Intron	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	449	MIR 5.				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GCCAATGATGCCAGCAAGGTG	0.547000												
CENPJ	55835	broad.mit.edu	37	13	25480954	25480954	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:25480954C>T	uc001upt.4	-	6	1475	c.1222G>A	c.(1222-1224)Gag>Aag	p.E408K	CENPJ_uc010tdf.2_Non-coding_Transcript|CENPJ_uc010aaf.3_Non-coding_Transcript|CENPJ_uc001upu.3_5'Flank	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN	Homo sapiens centromere protein J (CENPJ), mRNA.	408					G2/M transition of mitotic cell cycle|cell division|centriole replication|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		GGCTGGTCCTCGGAAGTGCTC	0.393000												
KRTAP13-1	140258	broad.mit.edu	37	21	31768922	31768922	+	Nonstop_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr21:31768922G>T	uc002yoa.3	+	0	531	c.518G>T	c.(517-519)tGa>tTa	p.*173L		NM_181599	NP_853630	Q8IUC0	KR131_HUMAN	Homo sapiens keratin associated protein 13-1 (KRTAP13-1), mRNA.	0						intermediate filament				endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTCTACTATTGATCATCTTGT	0.433000												
ELF5	2001	broad.mit.edu	37	11	34515211	34515211	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:34515211C>T	uc001mvo.1	-	2	430	c.200G>A	c.(199-201)cGc>cAc	p.R67H	ELF5_uc021qft.1_Intron|ELF5_uc001mvp.2_Missense_Mutation_p.R57H|ELF5_uc009ykd.2_Intron|ELF5_uc001mvq.2_Missense_Mutation_p.R57H	NM_198381	NP_001413	Q9UKW6	ELF5_HUMAN	Homo sapiens E74-like factor 5 (ets domain transcription factor) (ELF5), transcript variant 1, mRNA.	67	PNT.				cell proliferation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(4)|skin(1)	5		Acute lymphoblastic leukemia(5;0.0087)|all_hematologic(20;0.0384)				CCACACATGGCGCTTAGTCCA	0.527000											OREG0020879	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
VWA2	340706	broad.mit.edu	37	10	116045881	116045881	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:116045881C>T	uc001lbl.1	+	10	1502	c.1181C>T	c.(1180-1182)gCg>gTg	p.A394V	VWA2_uc001lbk.1_Missense_Mutation_p.A394V|VWA2_uc009xyf.1_Missense_Mutation_p.A90V	NM_198496	NP_940898	Q5GFL6	VWA2_HUMAN	Homo sapiens von Willebrand factor A domain containing 2 (VWA2), mRNA.	394	VWFA 2.					extracellular region		p.A394V(2)		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)		CTGCTGGTGGCGGTGCCTGTG	0.667000												
CYP2U1	113612	broad.mit.edu	37	4	108871478	108871478	+	Missense_Mutation	SNP	G	G	A	rs150818323		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:108871478G>A	uc003hyp.3	+	4	1617	c.1534G>A	c.(1534-1536)Gca>Aca	p.A512T	CYP2U1_uc011cfi.2_Missense_Mutation_p.A303T	NM_183075	NP_898898	Q7Z449	CP2U1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily U, polypeptide 1 (CYP2U1), mRNA.	512					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000128)		GCAGAGTTTCGCATTTGCTTT	0.398000												
DAB2IP	153090	broad.mit.edu	37	9	124528868	124528868	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:124528868C>T	uc004bln.3	+	8	1541	c.1472C>T	c.(1471-1473)gCc>gTc	p.A491V	DAB2IP_uc004blo.3_Missense_Mutation_p.A395V|DAB2IP_uc004blp.3_5'Flank	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	Homo sapiens DAB2 interacting protein (DAB2IP), transcript variant 1, mRNA.	519	Ras-GAP.				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|Ras GTPase activator activity|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						CTCATCAGCGCCTCCCTCTTC	0.632000												
BMPER	168667	broad.mit.edu	37	7	34118628	34118628	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:34118628G>A	uc011kap.2	+	12	1612	c.1238G>A	c.(1237-1239)cGc>cAc	p.R413H		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	Homo sapiens BMP binding endothelial regulator (BMPER), mRNA.	413	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CGCCGGACACGCTCCTTCTCG	0.627000												
THEMIS	387357	broad.mit.edu	37	6	128134766	128134766	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:128134766G>A	uc011ebt.2	-	3	1169	c.1020C>T	c.(1018-1020)ggC>ggT	p.G340G	THEMIS_uc010kfa.3_Silent_p.G243G|THEMIS_uc021zfa.1_Silent_p.G340G|THEMIS_uc010kfb.3_Silent_p.G305G	NM_001164685	NP_001158157	Q8N1K5	THMS1_HUMAN	Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.	340	CABIT 2.				T cell receptor signaling pathway|negative T cell selection|positive T cell selection	cytoplasm|nucleus		p.G340S(1)		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						GCTTGAACTTGCCTTTATAGC	0.463000												
C16orf46	123775	broad.mit.edu	37	16	81095510	81095510	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:81095510G>A	uc002fgc.4	-	3	703	c.444C>T	c.(442-444)agC>agT	p.S148S	C16orf46_uc010chf.3_Silent_p.S148S|C16orf46_uc010vno.2_5'UTR	NM_152337	NP_689550	Q6P387	CP046_HUMAN	Homo sapiens chromosome 16 open reading frame 46 (C16orf46), transcript variant 2, mRNA.	148										NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						AGCAGATGTCGCTAATTGCCC	0.557000												
GAK	2580	broad.mit.edu	37	4	871523	871523	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:871523G>A	uc003gbm.4	-	15	1935	c.1736C>T	c.(1735-1737)gCc>gTc	p.A579V	GAK_uc003gbn.4_Missense_Mutation_p.A500V|GAK_uc010ibk.1_Missense_Mutation_p.A473V|GAK_uc003gbl.4_Missense_Mutation_p.A443V	NM_005255	NP_005246	O14976	GAK_HUMAN	Homo sapiens cyclin G associated kinase (GAK), mRNA.	579	C2 tensin-type.				cell cycle	Golgi apparatus|focal adhesion|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	p.A579V(2)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		CATGACCACGGCCCTCACCAG	0.652000												
ABCA13	154664	broad.mit.edu	37	7	48413962	48413962	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:48413962G>A	uc003toq.2	+	33	11176	c.11152G>A	c.(11152-11154)Gcc>Acc	p.A3718T	ABCA13_uc010kys.1_Missense_Mutation_p.A792T|ABCA13_uc003tos.1_Missense_Mutation_p.A544T|ABCA13_uc010kyt.1_5'Flank	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	3718					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTCGACAACCGCCTTTGGACA	0.418000												
TRPM8	79054	broad.mit.edu	37	2	234869622	234869622	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:234869622C>T	uc002vvh.3	+	11	1605	c.1565C>T	c.(1564-1566)aCg>aTg	p.T522M	TRPM8_uc010fyj.3_Missense_Mutation_p.T210M	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	522						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	GCCCTCCTCACGTTTGTCTGG	0.512000												
HTR4	3360	broad.mit.edu	37	5	147889355	147889355	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:147889355C>A	uc021yfj.1	-	4	787	c.740G>T	c.(739-741)aGc>aTc	p.S247I	HTR4_uc021yfg.1_Missense_Mutation_p.S247I|HTR4_uc021yfh.1_Missense_Mutation_p.S247I|HTR4_uc010jgu.1_Non-coding_Transcript|HTR4_uc021yfi.1_Missense_Mutation_p.S247I|HTR4_uc011dby.1_Missense_Mutation_p.S247I|HTR4_uc003lpn.3_Missense_Mutation_p.S247I|HTR4_uc010jgv.3_Non-coding_Transcript|HTR4_uc021yfk.1_Missense_Mutation_p.S247I	NM_001040173	NP_001035263	Q13639	5HT4R_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 4 (HTR4), transcript variant i, mRNA.	247					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	GCGATGAGTGCTATGCTGGTC	0.542000												
SCYL3	57147	broad.mit.edu	37	1	169823904	169823904	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:169823904T>C	uc001ggs.2	-	12	1874	c.1676A>G	c.(1675-1677)cAg>cGg	p.Q559R	SCYL3_uc010plw.1_Missense_Mutation_p.Q151R|SCYL3_uc001ggt.2_Missense_Mutation_p.Q505R	NM_181093	NP_851607	Q8IZE3	PACE1_HUMAN	Homo sapiens SCY1-like 3 (S. cerevisiae) (SCYL3), transcript variant 2, mRNA.	559	Interaction with EZR.				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GGTAGTGCACTGGGACTTGAC	0.478000												
MEF2C	4208	broad.mit.edu	37	5	88100421	88100421	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:88100421G>A	uc003kjl.3	-	3	681	c.252C>T	c.(250-252)atC>atT	p.I84I	MEF2C_uc021ybg.1_Silent_p.I84I|MEF2C_uc021ybh.1_Silent_p.I84I|MEF2C_uc003kji.2_Silent_p.I84I|MEF2C_uc003kjj.3_Silent_p.I84I|MEF2C_uc003kjk.3_Silent_p.I84I|MEF2C_uc003kjm.3_Silent_p.I84I	NM_001193347	NP_001180276	Q06413	MEF2C_HUMAN	Homo sapiens myocyte enhancer factor 2C (MEF2C), transcript variant 3, mRNA.	84					B cell proliferation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|apoptosis|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		TCACCTCCACGATGTCTGAGT	0.547000										HNSCC(66;0.2)		
MFSD6	54842	broad.mit.edu	37	2	191301738	191301738	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:191301738G>A	uc002urz.2	+	2	1307	c.983G>A	c.(982-984)cGc>cAc	p.R328H		NM_017694	NP_060164	Q6ZSS7	MFSD6_HUMAN	Homo sapiens major facilitator superfamily domain containing 6 (MFSD6), mRNA.	328					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						GGGTTGCAGCGCATGTGGGGC	0.537000												
NOTCH4	4855	broad.mit.edu	37	6	32166736	32166736	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:32166736C>T	uc003obb.3	-	23	4641	c.4502G>A	c.(4501-4503)cGg>cAg	p.R1501Q	NOTCH4_uc011dpt.2_5'Flank|NOTCH4_uc003oba.3_Missense_Mutation_p.R164Q|NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc011dpw.1_5'Flank	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	1501					Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TAGTGGGGGCCGGCGTCGGTG	0.602000												
SLC6A9	6536	broad.mit.edu	37	1	44467145	44467145	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:44467145C>T	uc001cll.3	-	8	1528	c.1336G>A	c.(1336-1338)Gag>Aag	p.E446K	SLC6A9_uc009vxe.2_Missense_Mutation_p.E302K|SLC6A9_uc010okm.1_Missense_Mutation_p.E373K|SLC6A9_uc001clm.3_Missense_Mutation_p.E392K|SLC6A9_uc009vxd.3_Non-coding_Transcript|SLC6A9_uc010okn.2_Missense_Mutation_p.E377K|SLC6A9_uc010oko.2_Missense_Mutation_p.E262K|SLC6A9_uc001cln.3_Missense_Mutation_p.E373K|SLC6A9_uc010okp.1_Non-coding_Transcript	NM_201649	NP_964012	P48067	SC6A9_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 9 (SLC6A9), transcript variant 2, mRNA.	446						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	GTGAGGGCCTCGGGGTAAGCC	0.617000												
KIF1C	10749	broad.mit.edu	37	17	4917019	4917019	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:4917019C>T	uc002gan.2	+	16	1920	c.1563C>T	c.(1561-1563)ggC>ggT	p.G521G		NM_006612	NP_006603	O43896	KIF1C_HUMAN	Homo sapiens kinesin family member 1C (KIF1C), mRNA.	521					microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	Golgi apparatus|endoplasmic reticulum|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						TCAAAGATGGCGTCACCAGGT	0.597000												
FAF1	11124	broad.mit.edu	37	1	51050377	51050377	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:51050377G>A	uc001cse.1	-	9	1400	c.947C>T	c.(946-948)gCc>gTc	p.A316V	FAF1_uc009vyw.1_Intron|FAF1_uc010onc.1_Missense_Mutation_p.A74V	NM_007051	NP_008982	Q9UNN5	FAF1_HUMAN	Homo sapiens Fas (TNFRSF6) associated factor 1 (FAF1), mRNA.	316					apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	NF-kappaB binding|heat shock protein binding|protein kinase binding|protein kinase regulator activity	p.0?(1)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		TTTTCTCAAGGCAGATGACGC	0.383000												
GRIA2	2891	broad.mit.edu	37	4	158254497	158254497	+	Missense_Mutation	SNP	C	C	T	rs143357227		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:158254497C>T	uc003ipm.4	+	7	1606	c.1147C>T	c.(1147-1149)Ccc>Tcc	p.P383S	GRIA2_uc011cit.2_Missense_Mutation_p.P336S|GRIA2_uc003ipl.4_Missense_Mutation_p.P383S|GRIA2_uc003ipk.4_Missense_Mutation_p.P336S|GRIA2_uc010iqh.1_Non-coding_Transcript	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA.	383					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	p.P383R(1)		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)	AACTAATGGGCCCCGGAAGGT	0.398000												
PCDH7	5099	broad.mit.edu	37	4	30732378	30732378	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:30732378C>T	uc003gsk.1	+	1	4186	c.3178C>T	c.(3178-3180)Cgt>Tgt	p.R1060C	PCDH7_uc011bxx.2_Intron|PCDH7_uc021xnd.1_Intron	NM_002589	NP_002580	O60245	PCDH7_HUMAN	Homo sapiens protocadherin 7 (PCDH7), transcript variant a, mRNA.	1060					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						CTTTCAGATGCGTCTACATCC	0.373000												
KIAA1211	57482	broad.mit.edu	37	4	57180790	57180790	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:57180790G>A	uc003hbk.2	+	7	1513	c.1122G>A	c.(1120-1122)caG>caA	p.Q374Q	KIAA1211_uc010iha.2_Silent_p.Q367Q|KIAA1211_uc011bzz.1_Silent_p.Q284Q|KIAA1211_uc003hbm.1_Silent_p.Q260Q	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	Homo sapiens KIAA1211 (KIAA1211), mRNA.	374	Glu-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					agctggaacagcaggaggcgg	0.692000												
SLC26A5	375611	broad.mit.edu	37	7	103030938	103030938	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:103030938C>A	uc003vbz.3	-	11	1511	c.1249G>T	c.(1249-1251)Gcc>Tcc	p.A417S	SLC26A5_uc003vbt.2_Missense_Mutation_p.A417S|SLC26A5_uc003vbu.2_Missense_Mutation_p.A417S|SLC26A5_uc003vbv.2_Intron|SLC26A5_uc003vbw.3_Non-coding_Transcript|SLC26A5_uc003vby.3_Non-coding_Transcript|SLC26A5_uc010liy.3_Intron|SLC26A5_uc003vbx.3_Missense_Mutation_p.A417S	NM_198999	NP_945350	P58743	S26A5_HUMAN	Homo sapiens solute carrier family 26, member 5 (prestin) (SLC26A5), transcript variant a, mRNA.	417					regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity	p.L416F(1)		endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						ATTAATGAGGCCAAACAACCT	0.408000												
ASAP1	50807	broad.mit.edu	37	8	131092151	131092151	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:131092151G>A	uc003yta.2	-	25	2867	c.2639C>T	c.(2638-2640)tCg>tTg	p.S880L	ASAP1_uc003ysz.2_Missense_Mutation_p.S691L|ASAP1_uc011liw.2_Missense_Mutation_p.S873L	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 (ASAP1), transcript variant 1, mRNA.	880	Pro-rich.				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						GGCTTACCTCGACTGCTGGGA	0.453000												
PLXNA3	55558	broad.mit.edu	37	X	153697254	153697254	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:153697254C>T	uc004flm.3	+	24	4549	c.4376C>T	c.(4375-4377)gCa>gTa	p.A1459V		NM_017514	NP_059984	P51805	PLXA3_HUMAN	Homo sapiens plexin A3 (PLXNA3), mRNA.	1459					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACGGGCGAGGCACGATACTCC	0.617000												
PASK	23178	broad.mit.edu	37	2	242051680	242051680	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:242051680C>T	uc002wao.2	-	14	3641	c.3508G>A	c.(3508-3510)Gca>Aca	p.A1170T	PASK_uc010zol.2_Missense_Mutation_p.A984T|PASK_uc010zom.2_Missense_Mutation_p.A1135T|PASK_uc010fzl.2_Missense_Mutation_p.A1177T|PASK_uc010zon.2_Missense_Mutation_p.A951T|PASK_uc021vzf.1_Missense_Mutation_p.A1170T	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	Homo sapiens PAS domain containing serine/threonine kinase (PASK), transcript variant 2, mRNA.	1170	Protein kinase.				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		ACTTCCGGTGCACAGTACTCG	0.542000												
AGAP3	116988	broad.mit.edu	37	7	150815376	150815376	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:150815376C>T	uc003wjg.1	+	5	789	c.786C>T	c.(784-786)acC>acT	p.T262T	AGAP3_uc003wje.1_Silent_p.T34T|AGAP3_uc003wjf.1_Silent_p.T262T|AGAP3_uc010lpy.1_Silent_p.T262T|AGAP3_uc003wjh.1_Silent_p.T442T	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 (AGAP3), transcript variant 1, mRNA.	226	Small GTPase-like.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						AGCGGTGCACCTACTATGAGA	0.642000												
ZNF536	9745	broad.mit.edu	37	19	30935717	30935717	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:30935717C>T	uc002nsu.1	+	1	1386	c.1248C>T	c.(1246-1248)ggC>ggT	p.G416G	ZNF536_uc010edd.1_Silent_p.G416G	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	416					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)					TGCCCATGGGCGGCATGTCCC	0.627000												
ZNF626	199777	broad.mit.edu	37	19	20807894	20807894	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:20807894G>A	uc002npb.1	-	3	939	c.789C>T	c.(787-789)ggC>ggT	p.G263G	ZNF626_uc002npc.1_Silent_p.G187G	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN	Homo sapiens zinc finger protein 626 (ZNF626), transcript variant 1, mRNA.	263					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						TAAAGGCTTTGCCACATTTAT	0.398000												
MSH5	4439	broad.mit.edu	37	6	31713064	31713064	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:31713064C>T	uc003nwu.2	+	8	862	c.734C>T	c.(733-735)gCc>gTc	p.A245V	MSH5_uc003nwx.2_Missense_Mutation_p.A262V|MSH5_uc003nwv.2_Missense_Mutation_p.A245V|MSH5_uc003nww.2_Missense_Mutation_p.A245V|MSH5_uc011dof.1_Intron	NM_172165	NP_751897	O43196	MSH5_HUMAN	Homo sapiens mutS homolog 5 (E. coli) (MSH5), transcript variant 2, mRNA.	245					chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|ovary(2)|skin(2)	5						TACAAAGTGGCCAGTGGACTG	0.483000								Direct reversal of damage;Mismatch excision repair (MMR)				
FBXO27	126433	broad.mit.edu	37	19	39516156	39516156	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:39516156G>A	uc002okh.3	-	5	829	c.747C>T	c.(745-747)cgC>cgT	p.R249R		NM_178820	NP_849142	Q8NI29	FBX27_HUMAN	Homo sapiens F-box protein 27 (FBXO27), mRNA.	249	FBA.				protein catabolic process	SCF ubiquitin ligase complex	glycoprotein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			AAGACACAAAGCGGACGCCCA	0.587000												
A2ML1	144568	broad.mit.edu	37	12	9000230	9000230	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:9000230C>T	uc001quz.4	+	14	1867	c.1769C>T	c.(1768-1770)gCg>gTg	p.A590V	A2ML1_uc001qva.1_Missense_Mutation_p.A170V|A2ML1_uc010sgm.2_Missense_Mutation_p.A90V	NM_144670	NP_653271	B3KVV6	B3KVV6_HUMAN	Homo sapiens alpha-2-macroglobulin-like 1 (A2ML1), mRNA.	434						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TCCCTGTGTGCGCTCCGGGCG	0.607000												
ACOX3	8310	broad.mit.edu	37	4	8398744	8398744	+	Missense_Mutation	SNP	C	C	T	rs116281866	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:8398744C>T	uc010idk.3	-	8	1121	c.976G>A	c.(976-978)Gct>Act	p.A326T	ACOX3_uc003glc.4_Missense_Mutation_p.A326T|ACOX3_uc003gld.4_Missense_Mutation_p.A326T	NM_003501	NP_003492	O15254	ACOX3_HUMAN	Homo sapiens acyl-CoA oxidase 3, pristanoyl (ACOX3), transcript variant 1, mRNA.	326					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						AAGCGAAGAGCGATGGCCACG	0.587000												
MOGS	7841	broad.mit.edu	37	2	74688835	74688835	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:74688835A>G	uc010ffj.3	-	3	2244	c.2081T>C	c.(2080-2082)cTt>cCt	p.L694P	MOGS_uc010ffh.3_Missense_Mutation_p.L419P|MOGS_uc010yrt.2_Missense_Mutation_p.L575P|MOGS_uc010ffi.3_Missense_Mutation_p.L588P	NM_006302	NP_001139630	Q13724	MOGS_HUMAN	Homo sapiens mannosyl-oligosaccharide glucosidase (MOGS), transcript variant 1, mRNA.	694					oligosaccharide metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						CAAGGGAAAAAGACTGACATA	0.617000												
PTPN23	25930	broad.mit.edu	37	3	47453616	47453616	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:47453616G>A	uc003crf.1	+	21	4202	c.4106G>A	c.(4105-4107)cGc>cAc	p.R1369H	PTPN23_uc011bax.1_Non-coding_Transcript|PTPN23_uc011bay.1_Missense_Mutation_p.R1239H|BC067356_uc003cri.3_5'Flank	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 23 (PTPN23), mRNA.	1369	Tyrosine-protein phosphatase.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity	p.R1369S(1)		breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AACTTGCTGCGCTTCATCCAG	0.632000												
OR10AG1	282770	broad.mit.edu	37	11	55735774	55735774	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:55735774T>G	uc010rit.2	-	0	166	c.166A>C	c.(166-168)Aat>Cat	p.N56H		NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily AG, member 1 (OR10AG1), mRNA.	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N56N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					AGGGAAAAATTGCTAAGAAAA	0.343000												
TGM2	7052	broad.mit.edu	37	20	36779458	36779458	+	Splice_Site	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:36779458C>T	uc002xhr.3	-	4	534	c.434_splice	c.e4-1	p.A145_splice	TGM2_uc010zvx.2_Splice_Site_p.A64_splice|TGM2_uc010zvy.2_Splice_Site_p.A85_splice|TGM2_uc002xhs.1_Splice_Site_p.A121_splice|TGM2_uc002xht.3_Splice_Site_p.A145_splice|TGM2_uc002xhu.3_Splice_Site_p.A145_splice	NM_004613	NP_004604	P21980	TGM2_HUMAN	Homo sapiens transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM2), transcript variant 1, mRNA.	145					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	ACACAGCATCCGCTGCAGGCA	0.587000												
HAND1	9421	broad.mit.edu	37	5	153857252	153857252	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:153857252C>T	uc003lvn.3	-	0	573	c.317G>A	c.(316-318)cGc>cAc	p.R106H		NM_004821	NP_004812	O96004	HAND1_HUMAN	Homo sapiens heart and neural crest derivatives expressed 1 (HAND1), mRNA.	106					angiogenesis|cardiac left ventricle formation|cardiac right ventricle formation|cardiac septum morphogenesis|heart looping|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|trophectodermal cell differentiation|ventricular cardiac muscle tissue morphogenesis	cytoplasm|nucleolus|nucleoplasm	DNA binding|bHLH transcription factor binding|protein homodimerization activity|transcription coactivator activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			GCTCTCAGTGCGTCTCCGCTC	0.667000												
MLL5	55904	broad.mit.edu	37	7	104753201	104753201	+	Silent	SNP	G	G	A	rs147477523		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:104753201G>A	uc003vcm.3	+	26	5532	c.4998G>A	c.(4996-4998)tcG>tcA	p.S1666S	MLL5_uc010ljc.3_Silent_p.S1666S|MLL5_uc010ljf.1_Intron|MLL5_uc010ljg.3_Silent_p.S400S	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila) (MLL5), transcript variant 1, mRNA.	1666	Pro-rich.				DNA methylation|cell cycle arrest|cellular response to retinoic acid|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(13)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	63						CCCCTGGGTCGCATATTCATT	0.582000												
SCFD2	152579	broad.mit.edu	37	4	53773693	53773693	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:53773693G>A	uc003gzu.3	-	6	1907	c.1773C>T	c.(1771-1773)tcC>tcT	p.S591S	SCFD2_uc010igm.3_Intron	NM_152540	NP_689753	Q8WU76	SCFD2_HUMAN	Homo sapiens sec1 family domain containing 2 (SCFD2), mRNA.	591					protein transport|vesicle docking involved in exocytosis					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			CAATATCAACGGAATCTGGCC	0.403000												
JAK1	3716	broad.mit.edu	37	1	65344791	65344791	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:65344791G>A	uc001dbu.1	-	3	495	c.246C>T	c.(244-246)gaC>gaT	p.D82D	JAK1_uc009wam.1_Silent_p.D82D|JAK1_uc001dbv.3_5'Flank	NM_002227	NP_002218	P23458	JAK1_HUMAN	Homo sapiens Janus kinase 1 (JAK1), mRNA.	82	FERM.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	p.Y81*(1)		breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		TGGTGTTCTCGTCATACAGGG	0.468000			Mis		ALL							
PCDHGC5	56097	broad.mit.edu	37	5	140762959	140762959	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:140762959A>G	uc003lka.2	+	0	493	c.493A>G	c.(493-495)Aac>Gac	p.N165D	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003ljz.1_Missense_Mutation_p.N165D	NM_018920	NP_061743	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 7 (PCDHGA7), transcript variant 1, mRNA.	165	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGGGCACGAACTCCCTCCA	0.512000												
CRIM1	51232	broad.mit.edu	37	2	36739513	36739513	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:36739513G>A	uc002rpd.3	+	9	1822	c.1756G>A	c.(1756-1758)Ggc>Agc	p.G586S		NM_016441	NP_057525	Q9NZV1	CRIM1_HUMAN	Homo sapiens cysteine rich transmembrane BMP regulator 1 (chordin-like) (CRIM1), mRNA.	586	Antistasin-like 4.				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity	p.G586V(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				GGACAGTCACGGCTGTCTTAT	0.522000												
CRTAP	10491	broad.mit.edu	37	3	33174107	33174107	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:33174107A>G	uc003cfl.4	+	4	1103	c.983A>G	c.(982-984)gAc>gGc	p.D328G	CRTAP_uc010hfz.3_Missense_Mutation_p.D285G|CRTAP_uc003cfn.3_Missense_Mutation_p.D149G	NM_006371	NP_006362	O75718	CRTAP_HUMAN	Homo sapiens cartilage associated protein (CRTAP), mRNA.	328						proteinaceous extracellular matrix	binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9						GATCAGAATGACAAGGTCATG	0.502000												
IQCG	84223	broad.mit.edu	37	3	197618326	197618326	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:197618326G>A	uc003fyo.3	-	9	1334	c.1188C>T	c.(1186-1188)agC>agT	p.S396S	IQCG_uc003fyn.3_Silent_p.S298S|IQCG_uc003fyp.3_Silent_p.S396S	NM_001134435	NP_115639	Q9H095	IQCG_HUMAN	Homo sapiens IQ motif containing G (IQCG), transcript variant 2, mRNA.	396	IQ.									autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		CCTTTATAACGCTCTTTAATT	0.378000												
LY6G6F	259215	broad.mit.edu	37	6	31675769	31675769	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:31675769C>T	uc003nwb.1	+	2	504	c.504C>T	c.(502-504)ggC>ggT	p.G168G	ABHD16A_uc011dnz.2_Intron|LY6G6F_uc003nwa.1_Silent_p.G168G	NM_001003693	NP_001003693	Q5SQ64	LY66F_HUMAN	Homo sapiens lymphocyte antigen 6 complex, locus G6F (LY6G6F), mRNA.	168						integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	12						CCGTGAGGGGCCGTGTTCAGT	0.622000												
DCC	1630	broad.mit.edu	37	18	50923715	50923715	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:50923715G>A	uc002lfe.2	+	17	3342	c.2726G>A	c.(2725-2727)gGc>gAc	p.G909D	DCC_uc010xdr.1_Missense_Mutation_p.G737D|DCC_uc010dpf.2_Missense_Mutation_p.G544D	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	909	Fibronectin type-III 5.				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)		ACAGCAACAGGCCTCAAACCA	0.388000												
ZDBF2	57683	broad.mit.edu	37	2	207170556	207170556	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:207170556G>A	uc002vbp.2	+	4	1554	c.1304G>A	c.(1303-1305)cGt>cAt	p.R435H		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	435							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AAGGAAGTACGTACTGATGTA	0.343000												
GPC5	2262	broad.mit.edu	37	13	92345910	92345910	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:92345910G>A	uc010tif.2	+	2	1161	c.795G>A	c.(793-795)gcG>gcA	p.A265A		NM_004466	NP_004457	P78333	GPC5_HUMAN	Homo sapiens glypican 5 (GPC5), mRNA.	265						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				AAGGCCTGGCGCTCACTAAGC	0.542000												
SCN9A	6335	broad.mit.edu	37	2	167133746	167133746	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:167133746G>A	uc010fpl.3	-	15	2929	c.2588C>T	c.(2587-2589)gCc>gTc	p.A863V	BC051759_uc002udp.3_Non-coding_Transcript	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	874						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.L862L(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	GACGATGATGGCCAACACTAA	0.463000												
GLB1L2	89944	broad.mit.edu	37	11	134244527	134244527	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:134244527G>A	uc001qhp.3	+	17	1927	c.1739G>A	c.(1738-1740)gGc>gAc	p.G580D	GLB1L2_uc009zdg.1_Non-coding_Transcript	NM_138342	NP_612351	Q8IW92	GLBL2_HUMAN	Homo sapiens galactosidase, beta 1-like 2 (GLB1L2), mRNA.	580					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		TTCATCAATGGCCAGAACCTT	0.547000												
ESRP1	54845	broad.mit.edu	37	8	95680362	95680362	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:95680362G>A	uc003ygq.4	+	9	1300	c.1117G>A	c.(1117-1119)Gct>Act	p.A373T	ESRP1_uc003ygr.4_Missense_Mutation_p.A373T|ESRP1_uc003ygs.4_Missense_Mutation_p.A373T|ESRP1_uc003ygt.4_Missense_Mutation_p.A373T|ESRP1_uc003ygu.4_Missense_Mutation_p.A373T|ESRP1_uc003ygv.3_Missense_Mutation_p.A213T|ESRP1_uc003ygw.3_Missense_Mutation_p.A213T	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	Homo sapiens epithelial splicing regulatory protein 1 (ESRP1), transcript variant 1, mRNA.	373	RRM 2.				RNA splicing|mRNA processing|regulation of RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						AACAGGGGACGCTTTTGTCCT	0.483000												
UNC5D	137970	broad.mit.edu	37	8	35544118	35544118	+	Silent	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:35544118A>G	uc003xjr.2	+	6	1303	c.975A>G	c.(973-975)gaA>gaG	p.E325E	UNC5D_uc003xjs.2_Silent_p.E320E|UNC5D_uc003xjt.1_Silent_p.E94E	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.	325	TSP type-1 2.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CAGAGTGTGAACATTTGCGGA	0.488000												
PCDHGC5	56097	broad.mit.edu	37	5	140857013	140857013	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:140857013C>T	uc003lkv.2	+	0	1445	c.1330C>T	c.(1330-1332)Cgt>Tgt	p.R444C	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc003lkt.2_Intron|PCDHGC5_uc003lku.1_Missense_Mutation_p.R444C|PCDHGC5_uc003lkw.2_Intron	NM_002588	NP_002579	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily C, 3 (PCDHGC3), transcript variant 1, mRNA.	441	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R444C(2)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACAATAGTGCGTGTTCAAGT	0.522000												
NOC2L	26155	broad.mit.edu	37	1	883877	883877	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:883877G>A	uc009vjq.3	-	12	1609	c.1550C>T	c.(1549-1551)gCg>gTg	p.A517V	NOC2L_uc001aby.4_Missense_Mutation_p.A314V|NOC2L_uc001abz.4_Missense_Mutation_p.A517V	NM_015658	NP_056473	Q9Y3T9	NOC2L_HUMAN	Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) (NOC2L), mRNA.	517						nucleolus	protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		CACCCGGTACGCCTTCTCCTG	0.632000												
NFIB	4781	broad.mit.edu	37	9	14150263	14150263	+	Splice_Site	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:14150263C>T	uc022bdo.1	-	5	1221	c.686_splice	c.e5-1	p.T229_splice	NFIB_uc003zld.3_Splice_Site|NFIB_uc003zlf.3_Splice_Site_p.T229_splice|NFIB_uc003zle.3_Splice_Site_p.T229_splice|NFIB_uc022bdp.1_Splice_Site_p.T255_splice|NFIB_uc011lmo.2_Splice_Site_p.T229_splice	NM_001190737	NP_001177666	O00712	NFIB_HUMAN	Homo sapiens nuclear factor I/B (NFIB), transcript variant 1, mRNA.	229					Clara cell differentiation|DNA replication|Type I pneumocyte differentiation|Type II pneumocyte differentiation|anterior commissure morphogenesis|chondrocyte differentiation|commissural neuron axon guidance|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		GGGTTATGGGCGCTGAGGAAT	0.438000			T	"""MYB, HGMA2"""	"""adenoid cystic carcinoma, lipoma"""							
HEATR4	399671	broad.mit.edu	37	14	73989372	73989372	+	Missense_Mutation	SNP	C	C	T	rs142623987		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:73989372C>T	uc021rwe.1	-	2	833	c.485G>A	c.(484-486)cGc>cAc	p.R162H	HEATR4_uc021rwf.1_Missense_Mutation_p.R115H|HEATR4_uc010tub.1_Missense_Mutation_p.R162H	NM_001220484	NP_001207413			Homo sapiens HEAT repeat containing 4 (HEATR4), transcript variant 1, mRNA.											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		GATGAGAGGGCGGGGTGCTTC	0.557000												
SUDS3	64426	broad.mit.edu	37	12	118828947	118828947	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:118828947G>A	uc001twz.3	+	5	516	c.377G>A	c.(376-378)cGa>cAa	p.R126Q		NM_022491	NP_071936	Q9H7L9	SDS3_HUMAN	Homo sapiens suppressor of defective silencing 3 homolog (S. cerevisiae) (SUDS3), mRNA.	126					chromatin modification|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	Sin3 complex	histone deacetylase binding			breast(1)|lung(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAAGTGGAACGAAATTACATT	0.453000												
KIF3A	11127	broad.mit.edu	37	5	132052617	132052617	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:132052617T>A	uc011cxf.2	-	5	830	c.676A>T	c.(676-678)Att>Ttt	p.I226F	KIF3A_uc003kxn.3_Missense_Mutation_p.I185F|KIF3A_uc003kxo.3_Missense_Mutation_p.I226F|KIF3A_uc003kxp.3_Missense_Mutation_p.I226F	NM_007054	NP_008985	Q9Y496	KIF3A_HUMAN	Homo sapiens kinesin family member 3A (KIF3A), mRNA.	226	Kinesin-motor.				blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule	centrosome|cytosol|kinesin II complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|protein binding			endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCTATAGTAATTGTAAAGATG	0.383000												
ZNF217	7764	broad.mit.edu	37	20	52193292	52193292	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:52193292C>T	uc002xwq.4	-	2	2353	c.2011G>A	c.(2011-2013)Gca>Aca	p.A671T	ZNF217_uc010gij.1_Missense_Mutation_p.A663T	NM_006526	NP_006517	O75362	ZN217_HUMAN	Homo sapiens zinc finger protein 217 (ZNF217), mRNA.	671					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.A671T(3)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			CAGTCAGCTGCGGTCTCCGTT	0.483000												
DOPEY1	23033	broad.mit.edu	37	6	83848526	83848526	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:83848526C>T	uc011dyy.2	+	20	4998	c.4738C>T	c.(4738-4740)Ctg>Ttg	p.L1580L	DOPEY1_uc003pjs.1_Silent_p.L1589L|DOPEY1_uc010kbl.1_Silent_p.L1580L|DOPEY1_uc003pjt.3_Non-coding_Transcript	NM_001199942	NP_001186871	Q5JWR5	DOP1_HUMAN	Homo sapiens dopey family member 1 (DOPEY1), transcript variant 2, mRNA.	1589					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GCTTCAGAGGCTGATTGTTCT	0.408000												
MGA	23269	broad.mit.edu	37	15	41961288	41961288	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:41961288C>T	uc010ucy.2	+	1	377	c.196C>T	c.(196-198)Ctt>Ttt	p.L66F	MGA_uc001zog.1_Missense_Mutation_p.L66F|MGA_uc010ucz.2_Missense_Mutation_p.L66F	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.	66						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		GAAGATTTGCCTTCCAGCTGA	0.408000												
NCBP1	4686	broad.mit.edu	37	9	100431913	100431913	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:100431913C>T	uc004axq.3	+	21	2643	c.2184C>T	c.(2182-2184)tgC>tgT	p.C728C		NM_002486	NP_002477	Q09161	NCBP1_HUMAN	Homo sapiens nuclear cap binding protein subunit 1, 80kDa (NCBP1), mRNA.	728					gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	RNA cap binding|protein binding			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				TAGTACGATGCGAAACTGATG	0.418000												
BCAM	4059	broad.mit.edu	37	19	45316510	45316510	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:45316510G>A	uc002ozu.3	+	4	552	c.508G>A	c.(508-510)Gcc>Acc	p.A170T	BCAM_uc002ozt.1_Missense_Mutation_p.A170T	NM_005581	NP_005572	P50895	BCAM_HUMAN	Homo sapiens basal cell adhesion molecule (Lutheran blood group) (BCAM), transcript variant 1, mRNA.	170	Ig-like V-type 2.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				GCCTCAGATCGCCACCTGCAA	0.642000												
ENPEP	2028	broad.mit.edu	37	4	111434596	111434596	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:111434596T>C	uc003iab.4	+	6	1676	c.1334T>C	c.(1333-1335)gTa>gCa	p.V445A		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	445					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)	CTTGAAGATGTATTACCTGTT	0.323000												
SCLT1	132320	broad.mit.edu	37	4	129880822	129880822	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:129880822T>C	uc003igp.2	-	11	1486	c.980A>G	c.(979-981)tAt>tGt	p.Y327C	SCLT1_uc003ign.2_5'UTR|SCLT1_uc003igo.2_5'UTR|SCLT1_uc003igq.2_Intron|SCLT1_uc010iob.1_Intron	NM_144643	NP_653244	Q96NL6	SCLT1_HUMAN	Homo sapiens sodium channel and clathrin linker 1 (SCLT1), mRNA.	327						centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						AATAGCCTCATATCTCTCATT	0.348000												
PTGS2	5743	broad.mit.edu	37	1	186647441	186647441	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:186647441C>A	uc001gsb.3	-	3	546	c.409G>T	c.(409-411)Gcc>Tcc	p.A137S	PTGS2_uc009wyo.3_Missense_Mutation_p.E20D	NM_000963	NP_000954	P35354	PGH2_HUMAN	Homo sapiens prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) (PTGS2), mRNA.	137					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)|gamma-Homolinolenic acid(DB00154)	GGAGGAAGGGCTCTAGTATAA	0.448000												
FASN	2194	broad.mit.edu	37	17	80040218	80040218	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:80040218C>T	uc002kdu.3	-	34	6109	c.5992G>A	c.(5992-5994)Ggc>Agc	p.G1998S	FASN_uc002kdv.1_5'Flank	NM_004104	NP_004095	P49327	FAS_HUMAN	Homo sapiens fatty acid synthase (FASN), mRNA.	1998	Beta-ketoacyl reductase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	Golgi apparatus|cytosol|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	TTCAGGGTGCCGCTGTACTTG	0.637000												
ARFGEF1	10565	broad.mit.edu	37	8	68169965	68169965	+	Splice_Site	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:68169965A>G	uc003xxo.2	-	17	2916	c.2526_splice	c.e17+1	p.Q842_splice	ARFGEF1_uc003xxl.1_Splice_Site_p.Q296_splice	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) (ARFGEF1), mRNA.	842					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			AAGAAAACATACCTGTGGACT	0.308000												
FAM179B	23116	broad.mit.edu	37	14	45473399	45473399	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:45473399C>G	uc001wvw.3	+	3	2683	c.2474C>G	c.(2473-2475)aCt>aGt	p.T825S	FAM179B_uc001wvv.3_Missense_Mutation_p.T825S|FAM179B_uc010anc.3_Non-coding_Transcript|FAM179B_uc001wvu.3_Missense_Mutation_p.T825S	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	Homo sapiens family with sequence similarity 179, member B (FAM179B), mRNA.	825							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						TCACCTCGAACTAGTCCAAAG	0.393000												
EXOG	9941	broad.mit.edu	37	3	38565787	38565787	+	Silent	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:38565787T>C	uc003cih.2	+	5	1137	c.1041T>C	c.(1039-1041)taT>taC	p.Y347Y	EXOG_uc010hhg.3_Non-coding_Transcript|EXOG_uc010hhf.2_Silent_p.Y207Y|EXOG_uc003cii.2_Silent_p.Y207Y|EXOG_uc011ayq.1_Silent_p.Y297Y|EXOG_uc003cij.2_Silent_p.Y207Y|EXOG_uc010hhd.2_Silent_p.Y207Y|EXOG_uc010hhe.2_Silent_p.Y207Y|EXOG_uc003cik.2_Silent_p.Y207Y	NM_005107	NP_005098	Q9Y2C4	EXOG_HUMAN	Homo sapiens endo/exonuclease (5'-3'), endonuclease G-like (EXOG), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	347						mitochondrial inner membrane	endonuclease activity|metal ion binding|nucleic acid binding			central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						TGAGTCGCTATGAGAAGAAGC	0.408000												
CDH20	28316	broad.mit.edu	37	18	59221532	59221532	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:59221532C>T	uc010dps.1	+	10	2162	c.2010C>T	c.(2008-2010)ggC>ggT	p.G670G	CDH20_uc002lif.2_Silent_p.G664G	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	Homo sapiens cadherin 20, type 2 (CDH20), mRNA.	670					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G670G(2)		breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				ACGAGGGCGGCGGCGAGGAGG	0.652000												
EPHB3	2049	broad.mit.edu	37	3	184297350	184297350	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:184297350C>T	uc003foz.3	+	9	2324	c.1887C>T	c.(1885-1887)gaC>gaT	p.D629D		NM_004443	NP_004434	P54753	EPHB3_HUMAN	Homo sapiens EPH receptor B3 (EPHB3), mRNA.	629						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)			AGGAGATCGACGTGTCCTGCG	0.547000												
OR2F2	135948	broad.mit.edu	37	7	143632824	143632824	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:143632824C>A	uc011ktv.2	+	0	499	c.499C>A	c.(499-501)Ccc>Acc	p.P167T		NM_001004685	NP_001004685	O95006	OR2F2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 2 (OR2F2), mRNA.	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P167H(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					CTTTCAGCTGCCCATGTGCAC	0.522000												
SPPL3	121665	broad.mit.edu	37	12	121205248	121205248	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:121205248G>A	uc001tzd.3	-	8	1407	c.922C>T	c.(922-924)Cgc>Tgc	p.R308C	SPPL3_uc001tzc.3_Missense_Mutation_p.R138C	NM_139015	NP_620584	Q8TCT6	PSL4_HUMAN	Homo sapiens signal peptide peptidase-like 3 (SPPL3), mRNA.	309						integral to membrane	aspartic-type endopeptidase activity	p.R308C(1)				all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TTCTGCATGCGCCCGGAGATG	0.547000												
CDH10	1008	broad.mit.edu	37	5	24492981	24492981	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:24492981T>A	uc003jgr.2	-	9	2075	c.1569A>T	c.(1567-1569)aaA>aaT	p.K523N	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	523	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.K523N(2)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TGAAAAAAAATTTCTGTCCAC	0.318000										HNSCC(23;0.051)		
USP49	25862	broad.mit.edu	37	6	41773964	41773964	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:41773964G>A	uc003ori.3	-	3	980	c.758C>T	c.(757-759)aCg>aTg	p.T253M		NM_018561	NP_061031	Q70CQ1	UBP49_HUMAN	Homo sapiens ubiquitin specific peptidase 49 (USP49), mRNA.	253					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	p.T253T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GCGCAGGCCCGTGACGCCTGG	0.672000												
QSER1	79832	broad.mit.edu	37	11	32975681	32975681	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:32975681C>T	uc001mty.3	+	4	4336	c.4069C>T	c.(4069-4071)Cgt>Tgt	p.R1357C	QSER1_uc001mtz.1_Missense_Mutation_p.R1118C|QSER1_uc001mua.3_Missense_Mutation_p.R862C	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	Homo sapiens glutamine and serine rich 1 (QSER1), mRNA.	1357										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					ATACAGAGAGCGTGATGAATT	0.433000												
TPPP3	51673	broad.mit.edu	37	16	67424250	67424250	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:67424250C>T	uc002etb.3	-	3	503	c.358G>A	c.(358-360)Ggt>Agt	p.G120S	TPPP3_uc002esz.3_Missense_Mutation_p.G120S|TPPP3_uc002eta.3_Missense_Mutation_p.G120S	NM_015964	NP_057224	Q9BW30	TPPP3_HUMAN	Homo sapiens tubulin polymerization-promoting protein family member 3 (TPPP3), mRNA.	120					microtubule bundle formation	cytoplasm|microtubule	calcium ion binding|tubulin binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781)		TCTACAGCACCCCCTGTTTTT	0.617000												
DLGAP2	9228	broad.mit.edu	37	8	1649446	1649446	+	Silent	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:1649446A>G	uc003wpl.3	+	11	2899	c.2802A>G	c.(2800-2802)agA>agG	p.R934R	DLGAP2_uc003wpm.3_Silent_p.R920R	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.	1013					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		TGCCCGACAGACAACGCCAGG	0.592000												
MCM3AP	8888	broad.mit.edu	37	21	47671503	47671503	+	Silent	SNP	C	C	T	rs149634851	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr21:47671503C>T	uc002zir.1	-	19	4266	c.4230G>A	c.(4228-4230)tcG>tcA	p.S1410S	MCM3AP-AS1_uc002zim.2_Non-coding_Transcript|MCM3AP-AS1_uc002zin.2_3'UTR|MCM3AP_uc002zip.1_Silent_p.S151S|MCM3AP_uc002ziq.1_Silent_p.S337S|MCM3AP-AS1_uc002zis.1_Non-coding_Transcript	NM_003906	NP_003897	O60318	MCM3A_HUMAN	Homo sapiens minichromosome maintenance complex component 3 associated protein (MCM3AP), mRNA.	1410					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					AGTTGAAAAGCGAAAGCGTCT	0.398000												
OR10AG1	282770	broad.mit.edu	37	11	55735781	55735781	+	Silent	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:55735781A>G	uc010rit.2	-	0	159	c.159T>C	c.(157-159)ttT>ttC	p.F53F		NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily AG, member 1 (OR10AG1), mRNA.	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					AATTGCTAAGAAAAAAATACA	0.328000												
ZBTB17	7709	broad.mit.edu	37	1	16272720	16272720	+	Missense_Mutation	SNP	C	C	T	rs148471565		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:16272720C>T	uc001axl.4	-	4	703	c.464G>A	c.(463-465)cGc>cAc	p.R155H	ZBTB17_uc010obs.2_Missense_Mutation_p.R79H|ZBTB17_uc010obq.2_Missense_Mutation_p.R73H|ZBTB17_uc010obr.2_Missense_Mutation_p.R155H|ZBTB17_uc010obt.1_Missense_Mutation_p.R92H|ZBTB17_uc010obu.2_Missense_Mutation_p.R79H|ZBTB17_uc009vom.1_Missense_Mutation_p.R98H|ZBTB17_uc010obv.1_Missense_Mutation_p.R155H	NM_003443	NP_003434	Q13105	ZBT17_HUMAN	Homo sapiens zinc finger and BTB domain containing 17 (ZBTB17), transcript variant 2, mRNA.	155					negative regulation of cell cycle	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		GGGTGTGCTGCGTCCTGCCTG	0.662000												
AMBRA1	55626	broad.mit.edu	37	11	46419227	46419227	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:46419227G>A	uc001ncv.2	-	19	3993	c.3679C>T	c.(3679-3681)Cga>Tga	p.R1227*	AMBRA1_uc010rgt.1_3'UTR|AMBRA1_uc009ylc.1_Nonsense_Mutation_p.R1195*|AMBRA1_uc001ncu.1_Nonsense_Mutation_p.R1134*|AMBRA1_uc010rgu.1_Nonsense_Mutation_p.R1224*|AMBRA1_uc001ncw.2_Nonsense_Mutation_p.R1105*|AMBRA1_uc001ncx.2_Nonsense_Mutation_p.R1164*	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	Homo sapiens autophagy/beclin-1 regulator 1 (AMBRA1), mRNA.	1224					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		CTTAGGCCTCGCTCTGCCAGT	0.692000												
HUWE1	10075	broad.mit.edu	37	X	53641546	53641546	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:53641546G>A	uc004dsp.3	-	22	2612	c.2210C>T	c.(2209-2211)gCc>gTc	p.A737V		NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	737					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GCTCTGCATGGCCTGTACTTC	0.478000												
GPR132	29933	broad.mit.edu	37	14	105517738	105517738	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:105517738C>T	uc001yqd.3	-	3	1635	c.736G>A	c.(736-738)Gcg>Acg	p.A246T	GPR132_uc001yqc.3_Missense_Mutation_p.A58T|GPR132_uc001yqe.3_Missense_Mutation_p.A237T	NM_013345	NP_037477	Q9UNW8	GP132_HUMAN	Homo sapiens G protein-coupled receptor 132 (GPR132), mRNA.	246					response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		ACAACCACCGCGATGGCCGAG	0.567000												
PABPC3	5042	broad.mit.edu	37	13	25670410	25670410	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:25670410C>T	uc001upy.3	+	0	135	c.74C>T	c.(73-75)gCg>gTg	p.A25V		NM_030979	NP_112241	Q9H361	PABP3_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 3 (PABPC3), mRNA.	25	RRM 1.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		GTGACTGAGGCGATGCTCTAC	0.642000												
ASAP1	50807	broad.mit.edu	37	8	131104379	131104379	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:131104379G>A	uc003yta.2	-	24	2640	c.2412C>T	c.(2410-2412)ggC>ggT	p.G804G	ASAP1_uc003ysz.2_Silent_p.G615G|ASAP1_uc011liw.2_Silent_p.G797G	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 (ASAP1), transcript variant 1, mRNA.	804	Pro-rich.				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						TTGAAGGTGGGCCAGTTGGAC	0.517000												
IGF2R	3482	broad.mit.edu	37	6	160523629	160523629	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:160523629C>T	uc003qta.3	+	45	7069	c.6921C>T	c.(6919-6921)ggC>ggT	p.G2307G		NM_000876	NP_000867	P11717	MPRI_HUMAN	Homo sapiens insulin-like growth factor 2 receptor (IGF2R), mRNA.	2307					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		AGGCAGTCGGCGCGGTGCTCA	0.647000												
ROBO3	64221	broad.mit.edu	37	11	124735609	124735609	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:124735609C>T	uc001qbc.3	+	0	305	c.136C>T	c.(136-138)Cct>Tct	p.P46S		NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 3 (Drosophila) (ROBO3), mRNA.	46					axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		CACCCTGCTGCCTCCCGGCGA	0.632000											OREG0021466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
RHBDD2	57414	broad.mit.edu	37	7	75517323	75517323	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:75517323C>T	uc003udw.1	+	3	835	c.751C>T	c.(751-753)Cct>Tct	p.P251S	RHBDD2_uc003udv.1_Missense_Mutation_p.P110S	NM_001040456	NP_001035547	Q6NTF9	RHBD2_HUMAN	Homo sapiens rhomboid domain containing 2 (RHBDD2), transcript variant 1, mRNA.	251						integral to membrane	serine-type endopeptidase activity			kidney(1)|lung(4)|prostate(1)	6						GAACCCGGTGCCTGGCTCCTA	0.597000												
HOXA1	3198	broad.mit.edu	37	7	27135154	27135154	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:27135154G>A	uc003sye.3	-	0	472	c.378C>T	c.(376-378)tgC>tgT	p.C126C	HOXA1_uc003syd.3_Intron|HOXA1_uc022aao.1_Silent_p.C126C|HOTAIRM1_uc003syg.3_5'Flank|HOTAIRM1_uc022aap.1_5'Flank	NM_005522	NP_005513	P49639	HXA1_HUMAN	Homo sapiens homeobox A1 (HOXA1), transcript variant 1, mRNA.	126						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.C126F(1)		endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CAGCGGGAGCGCACTGGGGGT	0.567000												
HNF1B	6928	broad.mit.edu	37	17	36099531	36099531	+	Silent	SNP	C	C	T	rs147218489		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:36099531C>T	uc002hok.4	-	1	665	c.444G>A	c.(442-444)tcG>tcA	p.S148S	HNF1B_uc010wdi.2_Silent_p.S148S|HNF1B_uc021tvv.1_Silent_p.S148S|HNF1B_uc021tvw.1_Silent_p.S148S	NM_000458	NP_000449	P35680	HNF1B_HUMAN	Homo sapiens HNF1 homeobox B (HNF1B), transcript variant 1, mRNA.	148			S -> L (in RCAD).|S -> W (in RCAD).		endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			GGGAGAGGTGCGACTGGTTCA	0.567000												
PMS1	5378	broad.mit.edu	37	2	190660570	190660570	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:190660570G>A	uc002urh.4	+	2	737	c.208G>A	c.(208-210)Gca>Aca	p.A70T	PMS1_uc010zga.1_Missense_Mutation_p.A70T|PMS1_uc010zgb.1_Intron|PMS1_uc002urk.4_Missense_Mutation_p.A70T|PMS1_uc002uri.4_Missense_Mutation_p.A70T|PMS1_uc010zgc.2_5'UTR|PMS1_uc010zgd.2_Intron|PMS1_uc002urj.3_Non-coding_Transcript|PMS1_uc010fry.1_Missense_Mutation_p.A70T|PMS1_uc010frz.3_Missense_Mutation_p.A70T|PMS1_uc010zfz.1_Missense_Mutation_p.A70T	NM_000534	NP_000525	P54277	PMS1_HUMAN	Homo sapiens PMS1 postmeiotic segregation increased 1 (S. cerevisiae) (PMS1), transcript variant 1, mRNA.	70					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding	p.M69L(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			ACCTGTAATGGCAATGAAGTA	0.368000			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)				
OR52B4	143496	broad.mit.edu	37	11	4389392	4389392	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:4389392C>T	uc010qye.2	-	0	225	c.134G>A	c.(133-135)aGc>aAc	p.S45N		NM_001005161	NP_001005161	Q8NGK2	O52B4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 4 (OR52B4), mRNA.	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		GATGAGCAGGCTGTTCCCAAG	0.527000												
EFCAB7	84455	broad.mit.edu	37	1	64034139	64034139	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:64034139C>T	uc001dbf.3	+	11	1950	c.1656C>T	c.(1654-1656)atC>atT	p.I552I		NM_032437	NP_115813	A8K855	EFCB7_HUMAN	Homo sapiens EF-hand calcium binding domain 7 (EFCAB7), mRNA.	552							calcium ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						AAAATATAATCGTGCATACTT	0.378000												
BCLAF1	9774	broad.mit.edu	37	6	136597397	136597397	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:136597397A>T	uc003qgx.1	-	4	1519	c.1266T>A	c.(1264-1266)agT>agA	p.S422R	BCLAF1_uc003qgy.1_Missense_Mutation_p.S420R|BCLAF1_uc011edc.1_Intron|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.S420R|BCLAF1_uc003qgw.1_Intron	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	422					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CAGTAGCAAAACTTTTACCCT	0.423000												
ST6GAL2	84620	broad.mit.edu	37	2	107460198	107460198	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:107460198G>A	uc002tdq.3	-	1	355	c.236C>T	c.(235-237)gCg>gTg	p.A79V	ST6GAL2_uc002tdr.3_Missense_Mutation_p.A79V|ST6GAL2_uc002tds.3_Missense_Mutation_p.A79V	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	79					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.A79V(2)|p.A79A(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						GCGGGGCAGCGCCTGGCGTGC	0.662000												
VAV2	7410	broad.mit.edu	37	9	136677305	136677305	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:136677305G>A	uc004ces.3	-	4	529	c.483C>T	c.(481-483)tgC>tgT	p.C161C	VAV2_uc004cer.3_Silent_p.C161C	NM_001134398	NP_001127870	P52735	VAV2_HUMAN	Homo sapiens vav 2 guanine nucleotide exchange factor (VAV2), transcript variant 1, mRNA.	161					angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|metal ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		CACACGGGACGCAGTCGTAGA	0.667000												
CAMKK1	84254	broad.mit.edu	37	17	3773157	3773157	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:3773157C>T	uc002fwv.3	-	13	1412	c.1264G>A	c.(1264-1266)Gac>Aac	p.D422N	CAMKK1_uc002fwt.3_Missense_Mutation_p.D384N|CAMKK1_uc002fwu.3_Missense_Mutation_p.D384N	NM_172207	NP_757344	Q8N5S9	KKCC1_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase kinase 1, alpha (CAMKK1), transcript variant 3, mRNA.	384					synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		AGGATCAGGTCCTTGAGCTCC	0.587000												
PYGM	5837	broad.mit.edu	37	11	64522963	64522963	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:64522963C>T	uc001oax.4	-	5	1545	c.728G>A	c.(727-729)cGc>cAc	p.R243H	PYGM_uc001oay.4_Missense_Mutation_p.R155H	NM_005609	NP_005600	P11217	PYGM_HUMAN	Homo sapiens phosphorylase, glycogen, muscle (PYGM), transcript variant 1, mRNA.	243					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	AGACCAGAGGCGCATGGTGTT	0.617000												
KSR1	8844	broad.mit.edu	37	17	25910117	25910117	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:25910117C>T	uc010crg.3	+	4	1000	c.555C>T	c.(553-555)gaC>gaT	p.D185D	KSR1_uc002gzj.1_Non-coding_Transcript	NM_014238	NP_055053	Q8IVT5	KSR1_HUMAN	Homo sapiens kinase suppressor of ras 1 (KSR1), mRNA.	320					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		GCATTGATGACGTCTCCTCGA	0.542000												
STAG2	10735	broad.mit.edu	37	X	123229279	123229279	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:123229279G>A	uc004eua.3	+	33	4167	c.3763G>A	c.(3763-3765)Gct>Act	p.A1255T	STAG2_uc004etz.4_Missense_Mutation_p.A1218T|STAG2_uc004eub.3_Missense_Mutation_p.A1218T|STAG2_uc004euc.3_Missense_Mutation_p.A1255T|STAG2_uc004eud.3_Missense_Mutation_p.A1218T|STAG2_uc004eue.3_Missense_Mutation_p.A1218T	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN	Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.	1218					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CTTTGATCCAGCTTCAATTAT	0.373000												
CAMTA1	23261	broad.mit.edu	37	1	7797322	7797322	+	Missense_Mutation	SNP	C	C	T	rs149702154		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:7797322C>T	uc001aoi.3	+	14	3557	c.3350C>T	c.(3349-3351)gCg>gTg	p.A1117V	CAMTA1_uc010nzv.1_Missense_Mutation_p.A204V|CAMTA1_uc001aok.4_Missense_Mutation_p.A160V|CAMTA1_uc001aoj.3_Missense_Mutation_p.A73V	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	1117					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TAGATGTGGGCGTGTGCCCTA	0.547000			T	WWTR1	epitheliod hemangioendothelioma							
NOX3	50508	broad.mit.edu	37	6	155761236	155761236	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:155761236G>A	uc003qqm.3	-	5	625	c.522C>T	c.(520-522)ggC>ggT	p.G174G		NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN	Homo sapiens NADPH oxidase 3 (NOX3), mRNA.	174	Ferric oxidoreductase.						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	p.G174G(2)|p.A173A(1)		cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		GACCGGTGACGCCTGCTATTG	0.403000												
GFRAL	389400	broad.mit.edu	37	6	55216125	55216125	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:55216125G>A	uc003pcm.1	+	4	531	c.445G>A	c.(445-447)Gcc>Acc	p.A149T		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA.	149						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TGCACAGTTGGCCTCTTACCT	0.453000												
PCDHAC2	56134	broad.mit.edu	37	5	140167729	140167729	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:140167729G>A	uc003lhb.2	+	0	1854	c.1854G>A	c.(1852-1854)gcG>gcA	p.A618A	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lgz.3_Silent_p.A618A	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	629	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGCGGCGCGCGCATCCCGT	0.667000												
C9	735	broad.mit.edu	37	5	39341719	39341719	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:39341719C>T	uc003jlv.4	-	2	356	c.267G>A	c.(265-267)gtG>gtA	p.V89V		NM_001737	NP_001728	P02748	CO9_HUMAN	Homo sapiens complement component 9 (C9), mRNA.	89	TSP type-1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			GCTCTGTGGGCACACACTGTC	0.463000												
OBSCN	84033	broad.mit.edu	37	1	228506834	228506834	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:228506834G>A	uc009xez.1	+	53	14425	c.14381G>A	c.(14380-14382)cGc>cAc	p.R4794H	OBSCN_uc001hsn.3_Missense_Mutation_p.R4794H	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	4794					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding	p.R5376H(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GAGCTGGCCCGCACTGGAGAT	0.652000												
SP110	3431	broad.mit.edu	37	2	231037655	231037655	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:231037655G>A	uc002vqg.3	-	14	1851	c.1611C>T	c.(1609-1611)tgC>tgT	p.C537C	SP110_uc002vqh.3_Silent_p.C537C	NM_080424	NP_536349	Q9HB58	SP110_HUMAN	Homo sapiens SP110 nuclear body protein (SP110), transcript variant c, mRNA.	537					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding	p.C537C(2)		breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		AGCACACCTCGCATTCATCCG	0.562000												
USP46	64854	broad.mit.edu	37	4	53494163	53494163	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:53494163G>A	uc003gzn.3	-	2	470	c.285C>T	c.(283-285)ggC>ggT	p.G95G	USP46_uc003gzm.4_Silent_p.G88G|USP46_uc011bzr.2_Silent_p.G72G|USP46_uc011bzs.2_5'UTR	NM_022832	NP_073743	P62068	UBP46_HUMAN	Homo sapiens ubiquitin specific peptidase 46 (USP46), transcript variant 1, mRNA.	95					behavior|protein deubiquitination|regulation of synaptic transmission, GABAergic|ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)	12			LUSC - Lung squamous cell carcinoma(32;0.0295)			GTGGGATGACGCCAACCTTCT	0.438000												
TMEM216	51259	broad.mit.edu	37	11	61165323	61165323	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:61165323G>A	uc021qkf.1	+	3	579	c.307G>A	c.(307-309)Gcc>Acc	p.A103T	TMEM216_uc010rlj.2_Missense_Mutation_p.A103T|TMEM216_uc001nrn.2_Missense_Mutation_p.A42T	NM_001173991	NP_001167462	Q9P0N5	TM216_HUMAN	Homo sapiens transmembrane protein 216 (TMEM216), transcript variant 3, mRNA.	96						integral to membrane				endometrium(1)|large_intestine(2)|lung(1)|prostate(2)	6						TGCCATGATGGCCTCCTATTA	0.527000												
PFKP	5214	broad.mit.edu	37	10	3124630	3124630	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:3124630G>A	uc001igp.3	+	1	239	c.163G>A	c.(163-165)Gcc>Acc	p.A55T	PFKP_uc001igq.3_Missense_Mutation_p.G20D|PFKP_uc009xhr.3_Missense_Mutation_p.A17T	NM_002627	NP_002618	Q01813	K6PP_HUMAN	Homo sapiens phosphofructokinase, platelet (PFKP), transcript variant 1, mRNA.	55					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		CTACGTGGGGGCCAAGGTGTA	0.617000												
POTEH	23784	broad.mit.edu	37	22	16279297	16279297	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:16279297C>A	uc010gqp.2	-	3	978	c.926G>T	c.(925-927)gGc>gTc	p.G309V	POTEH_uc002zlg.1_Non-coding_Transcript|POTEH_uc002zlh.1_Missense_Mutation_p.G28V|POTEH_uc002zlj.1_Missense_Mutation_p.G144V	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA.	309										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TGGTGTGAGGCCATGCTGTAA	0.323000												
PARP4	143	broad.mit.edu	37	13	25008533	25008533	+	Splice_Site	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:25008533C>A	uc001upl.3	-	31	4852	c.4746_splice	c.e31+1	p.E1582_splice		NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 4 (PARP4), mRNA.	1582	Interaction with the major vault protein.				DNA repair|cell death|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|NAD+ ADP-ribosyltransferase activity|enzyme binding			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)		AGACACATACCTCTGTCTGTA	0.463000												
FRAS1	80144	broad.mit.edu	37	4	79188442	79188442	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:79188442G>A	uc003hlb.2	+	8	1277	c.837G>A	c.(835-837)gtG>gtA	p.V279V	FRAS1_uc003hkw.3_Silent_p.V279V|FRAS1_uc003hky.1_5'UTR|FRAS1_uc003hkz.3_5'UTR	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	279	VWFC 4.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						AGGAATGTGTGTCTCCTGCCG	0.582000												
LPAR1	1902	broad.mit.edu	37	9	113704425	113704425	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:113704425C>A	uc011lwo.2	-	1	74	c.72G>T	c.(70-72)caG>caT	p.Q24H	LPAR1_uc004bfa.3_Missense_Mutation_p.Q23H|LPAR1_uc011lwm.2_Missense_Mutation_p.Q24H|LPAR1_uc004bfc.3_Missense_Mutation_p.Q23H|LPAR1_uc011lwn.2_Missense_Mutation_p.Q5H|LPAR1_uc004bfb.3_Missense_Mutation_p.Q23H|LPAR1_uc010mub.3_Missense_Mutation_p.Q23H	NM_057159	NP_476500	Q92633	LPAR1_HUMAN	Homo sapiens lysophosphatidic acid receptor 1 (LPAR1), transcript variant 2, mRNA.	23					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						TGTAGAAGCACTGTGGTTCAT	0.403000												
KIAA1755	85449	broad.mit.edu	37	20	36869866	36869866	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:36869866G>T	uc002xhy.1	-	2	939	c.667C>A	c.(667-669)Cca>Aca	p.P223T	KIAA1755_uc002xhz.1_Missense_Mutation_p.P223T	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	Homo sapiens KIAA1755 (KIAA1755), mRNA.	223										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				TGGTTGTCTGGGGAGCTGGCC	0.587000												
PGBD1	84547	broad.mit.edu	37	6	28251950	28251950	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:28251950G>C	uc003nky.3	+	1	780	c.360G>C	c.(358-360)gaG>gaC	p.E120D	PGBD1_uc003nkz.3_Missense_Mutation_p.E120D	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN	Homo sapiens piggyBac transposable element derived 1 (PGBD1), transcript variant 2, mRNA.	120	SCAN box.				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						CAGTGCTGGAGAATCTAGAGA	0.517000												
KRTAP1-3	81850	broad.mit.edu	37	17	39191019	39191019	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:39191019T>C	uc002hvv.3	-	0	89	c.55A>G	c.(55-57)Aca>Gca	p.T19A		NM_030966	NP_112228	Q8IUG1	KRA13_HUMAN	Homo sapiens keratin associated protein 1-3 (KRTAP1-3), mRNA.	19						extracellular region|keratin filament	structural constituent of epidermis			cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GAGCCGCATGTCCCACTGGTG	0.582000												
ATP6V1A	523	broad.mit.edu	37	3	113503074	113503074	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:113503074G>A	uc003eao.3	+	3	323	c.215G>A	c.(214-216)gGt>gAt	p.G72D	ATP6V1A_uc011bik.2_Missense_Mutation_p.G39D	NM_001690	NP_001681	P38606	VATA_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A (ATP6V1A), mRNA.	72					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TTTTTAGCTGGTGTGTCTGTT	0.423000												
ITPKB	3707	broad.mit.edu	37	1	226923286	226923286	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:226923286C>T	uc010pvo.2	-	1	2214	c.1874G>A	c.(1873-1875)cGc>cAc	p.R625H	ITPKB_uc001hqh.3_Missense_Mutation_p.R625H	NM_002221	NP_002212	P27987	IP3KB_HUMAN	Homo sapiens inositol-trisphosphate 3-kinase B (ITPKB), mRNA.	625							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				GTCCAGGGTGCGCTCAGGGTC	0.557000												
PCDHB8	56128	broad.mit.edu	37	5	140559017	140559017	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:140559017G>A	uc011dai.2	+	0	1647	c.1402G>A	c.(1402-1404)Gcc>Acc	p.A468T	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	468	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A468T(2)|p.P467A(1)|p.P467P(1)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAACAGCCCCGCCCTGCACAT	0.637000												
FOXO1	2308	broad.mit.edu	37	13	41134254	41134254	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:41134254C>T	uc001uxl.4	-	1	1759	c.1374G>A	c.(1372-1374)gcG>gcA	p.A458A	FOXO1_uc010acc.1_Silent_p.A273A	NM_002015	NP_002006	Q12778	FOXO1_HUMAN	Homo sapiens forkhead box O1 (FOXO1), mRNA.	458					anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	p.A458V(1)	PAX7/FOXO1(197)|PAX3/FOXO1(749)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	20		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)		AGAGTCCAGGCGCACAGTTAT	0.502000												
SRRM2	23524	broad.mit.edu	37	16	2816576	2816576	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:2816576G>A	uc002crk.3	+	10	6596	c.6047G>A	c.(6046-6048)cGc>cAc	p.R2016H	SRRM2_uc002crj.1_Missense_Mutation_p.R1920H|SRRM2_uc002crl.1_Missense_Mutation_p.R2016H|SRRM2_uc010bsu.1_Missense_Mutation_p.R1920H	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	2016	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GTGACACGCCGCCGCTCTAGG	0.577000												
ZNF434	54925	broad.mit.edu	37	16	3434741	3434741	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:3434741G>A	uc002cux.4	-	5	1208	c.949C>T	c.(949-951)Cgc>Tgc	p.R317C	ZNF434_uc010uwx.2_Missense_Mutation_p.R29C|ZNF434_uc002cuy.4_Missense_Mutation_p.R29C|ZNF434_uc002cuz.3_Missense_Mutation_p.R106C|ZNF434_uc010uwy.1_Missense_Mutation_p.R29C|ZNF434_uc010uwz.1_Missense_Mutation_p.R317C|ZNF434_uc010uxa.1_Missense_Mutation_p.R106C	NM_017810	NP_060280	Q9NX65	ZN434_HUMAN	Homo sapiens zinc finger protein 434 (ZNF434), mRNA.	106					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						CTCACTTTGCGGTAACTCAAC	0.542000												
MAP3K1	4214	broad.mit.edu	37	5	56155650	56155650	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:56155650C>T	uc003jqw.4	+	2	1243	c.742C>T	c.(742-744)Cga>Tga	p.R248*		NM_005921	NP_005912	Q13233	M3K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 1 (MAP3K1), mRNA.	248					MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to mechanical stimulus|innate immune response|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		TTCCAAAGGCCGACGCAGTCC	0.507000												
BMP2K	55589	broad.mit.edu	37	4	79791958	79791958	+	Missense_Mutation	SNP	G	G	A	rs142887199	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:79791958G>A	uc003hlk.3	+	10	1419	c.1253G>A	c.(1252-1254)gGc>gAc	p.G418D	BMP2K_uc010ijl.1_Non-coding_Transcript|BMP2K_uc003hlj.3_Missense_Mutation_p.G418D|BMP2K_uc003hll.3_5'Flank	NM_198892	NP_942595	Q9NSY1	BMP2K_HUMAN	Homo sapiens BMP2 inducible kinase (BMP2K), transcript variant 1, mRNA.	418						nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						CCTGGAAATGGCCCTGAAATT	0.438000												
HSP90B1	7184	broad.mit.edu	37	12	104335416	104335416	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:104335416C>T	uc001tkb.1	+	9	1345	c.1240C>T	c.(1240-1242)Cgc>Tgc	p.R414C	HSP90B1_uc010swg.1_Missense_Mutation_p.R79C|HSP90B1_uc009zui.1_Intron	NM_003299	NP_003290	P14625	ENPL_HUMAN	Homo sapiens heat shock protein 90kDa beta (Grp94), member 1 (HSP90B1), mRNA.	414					ER-associated protein catabolic process|actin rod assembly|anti-apoptosis|cellular response to ATP|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|RNA binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|unfolded protein binding|virion binding			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	GCTCTATGTGCGCCGTGTATT	0.368000												
FAT2	2196	broad.mit.edu	37	5	150897291	150897291	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:150897291G>A	uc003lue.4	-	18	11366	c.11353C>T	c.(11353-11355)Cgg>Tgg	p.R3785W	FAT2_uc003lud.4_Missense_Mutation_p.R478W	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	3785	Laminin G-like.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCCCTGTACCGCACATAGCTC	0.517000												
FAM55C	91775	broad.mit.edu	37	3	101520245	101520245	+	Missense_Mutation	SNP	G	G	A	rs143859535		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:101520245G>A	uc003dvn.3	+	4	897	c.260G>A	c.(259-261)cGg>cAg	p.R87Q	FAM55C_uc010hpn.3_Missense_Mutation_p.R87Q	NM_145037	NP_659474	Q969Y0	FA55C_HUMAN	Homo sapiens family with sequence similarity 55, member C (FAM55C), transcript variant 2, mRNA.	87						extracellular region				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	32						GCCTTGCACCGGCAGGTTCCT	0.552000												
OPA3	80207	broad.mit.edu	37	19	46032371	46032371	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:46032371G>A	uc002pcj.4	-	1	586	c.486C>T	c.(484-486)caC>caT	p.H162H		NM_001017989	NP_001017989	Q9H6K4	OPA3_HUMAN	Homo sapiens optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) (OPA3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	162					response to stimulus|visual perception	mitochondrion				cervix(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)		GGAGGCAGAGGTGGGCTCGCA	0.701000												
SLC7A6OS	84138	broad.mit.edu	37	16	68336334	68336334	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:68336334C>T	uc002evw.2	-	3	788	c.749G>A	c.(748-750)cGc>cAc	p.R250H		NM_032178	NP_115554	Q96CW6	S7A6O_HUMAN	Homo sapiens solute carrier family 7, member 6 opposite strand (SLC7A6OS), mRNA.	250					protein transport	cytoplasm|nucleus				breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	10		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.106)		GTACTCATTGCGCCAGTTATT	0.507000												
IL12RB2	3595	broad.mit.edu	37	1	67838350	67838350	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:67838350A>G	uc001ddu.3	+	11	2241	c.1601A>G	c.(1600-1602)aAg>aGg	p.K534R	IL12RB2_uc010oqi.2_Missense_Mutation_p.K534R|IL12RB2_uc010oqj.2_Missense_Mutation_p.K534R|IL12RB2_uc010oqk.2_Non-coding_Transcript|IL12RB2_uc010oql.2_Intron|IL12RB2_uc010oqm.2_Missense_Mutation_p.K534R|IL12RB2_uc010oqn.2_Intron	NM_001559	NP_001550	Q99665	I12R2_HUMAN	Homo sapiens interleukin 12 receptor, beta 2 (IL12RB2), mRNA.	534	Fibronectin type-III 5.				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						ACAGAGGAAAAGGGGAGCATT	0.478000												
PYGB	5834	broad.mit.edu	37	20	25273229	25273229	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:25273229C>T	uc002wup.3	+	16	2266	c.2157C>T	c.(2155-2157)gtC>gtT	p.V719V		NM_002862	NP_002853	P11216	PYGB_HUMAN	Homo sapiens phosphorylase, glycogen; brain (PYGB), mRNA.	719					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31					Pyridoxal Phosphate(DB00114)	TGGAGGATGTCGAGGCCTTGG	0.667000												
CAPNS1	826	broad.mit.edu	37	19	36634008	36634008	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:36634008G>A	uc002odi.1	+	5	591	c.434G>A	c.(433-435)cGc>cAc	p.R145H	CAPNS1_uc002odk.3_Missense_Mutation_p.R145H|CAPNS1_uc002odj.3_Missense_Mutation_p.R145H|CAPNS1_uc002odl.3_Missense_Mutation_p.R145H	NM_001749	NP_001740	P04632	CPNS1_HUMAN	Homo sapiens calpain, small subunit 1 (CAPNS1), transcript variant 1, mRNA.	145	EF-hand 2.				positive regulation of cell proliferation	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GACACATGTCGCAGCATGGTG	0.522000												
TAF1B	9014	broad.mit.edu	37	2	10050891	10050891	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:10050891G>A	uc002qzz.3	+	9	1082	c.982G>A	c.(982-984)Gtg>Atg	p.V328M	TAF1B_uc010exc.2_Missense_Mutation_p.V328M|TAF1B_uc002qzy.4_Missense_Mutation_p.V328M|TAF1B_uc010yja.2_Missense_Mutation_p.V73M|TAF1B_uc010exd.3_Missense_Mutation_p.V73M	NM_005680	NP_005671	Q53T94	TAF1B_HUMAN	Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa (TAF1B), mRNA.	328					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AACTTGCCACGTGGTAAAAAT	0.343000												
HIPK4	147746	broad.mit.edu	37	19	40895719	40895719	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:40895719G>A	uc002onp.3	-	0	376	c.91C>T	c.(91-93)Cgg>Tgg	p.R31W		NM_144685	NP_653286	Q8NE63	HIPK4_HUMAN	Homo sapiens homeodomain interacting protein kinase 4 (HIPK4), mRNA.	31	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity	p.R31Q(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			CCCGTGCTCCGCCGCCAGCCC	0.607000												
PCDHAC2	56134	broad.mit.edu	37	5	140256730	140256730	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:140256730A>T	uc003lic.2	+	0	1800	c.1673A>T	c.(1672-1674)gAg>gTg	p.E558V	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Missense_Mutation_p.E558V	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	572	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCTGGACGAGAACGACAAC	0.701000												
RAF1	5894	broad.mit.edu	37	3	12647737	12647737	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:12647737G>A	uc003bxf.4	-	5	1058	c.643C>T	c.(643-645)Cgt>Tgt	p.R215C	RAF1_uc011aut.2_Intron|RAF1_uc011auu.2_Missense_Mutation_p.R133C	NM_002880	NP_002871	P04049	RAF1_HUMAN	Homo sapiens v-raf-1 murine leukemia viral oncogene homolog 1 (RAF1), mRNA.	215					Ras protein signal transduction|activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity	p.R215C(4)	ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Sorafenib(DB00398)	CGCATACGACGCATAGTCAAA	0.418000			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome			
MLL3	58508	broad.mit.edu	37	7	151962157	151962157	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:151962157G>A	uc003wla.3	-	7	1369	c.1150C>T	c.(1150-1152)Caa>Taa	p.Q384*		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	384					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	p.Q384E(3)|p.W383L(1)		NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		TCAGGACATTGCCAACCTGCA	0.428000			N		medulloblastoma							
SLC7A4	6545	broad.mit.edu	37	22	21385306	21385306	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:21385306G>A	uc002zud.3	-	1	864	c.796C>T	c.(796-798)Cgg>Tgg	p.R266W	SLC7A4_uc002zue.3_Missense_Mutation_p.R266W	NM_004173	NP_004164	O43246	CTR4_HUMAN	Homo sapiens solute carrier family 7 (orphan transporter), member 4 (SLC7A4), mRNA.	266					cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GGCACAGACCGCCGTGGGTTC	0.632000												
ART5	116969	broad.mit.edu	37	11	3660999	3660999	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:3660999G>A	uc001lyb.1	-	1	1053	c.660C>T	c.(658-660)cgC>cgT	p.R220R	ART5_uc001lyc.1_Silent_p.R220R|ART5_uc001lyd.3_Intron|ART5_uc009yea.3_Intron	NM_053017	NP_443750	Q96L15	NAR5_HUMAN	Homo sapiens ADP-ribosyltransferase 5 (ART5), transcript variant 1, mRNA.	220						extracellular region	NAD(P)+-protein-arginine ADP-ribosyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)	11		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCAGCACCTCGCGCTCCTTGG	0.512000												
C10orf114	399726	broad.mit.edu	37	10	21785730	21785730	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:21785730T>A	uc001iqn.4	-	0	484	c.14A>T	c.(13-15)gAg>gTg	p.E5V	MIR1915_uc021pnw.1_5'Flank	NM_001010911	NP_001010911	Q5T4H9	CJ114_HUMAN	Homo sapiens chromosome 10 open reading frame 114 (C10orf114), mRNA.	5										endometrium(2)|large_intestine(1)|lung(2)	5						CCCTGAGGGCTCCCGCGATTG	0.642000												
ZNF319	57567	broad.mit.edu	37	16	58031051	58031051	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:58031051G>A	uc002emx.1	-	1	1742	c.1119C>T	c.(1117-1119)tgC>tgT	p.C373C	ZNF319_uc021tjd.1_Silent_p.C373C	NM_020807	NP_065858	Q9P2F9	ZN319_HUMAN	Homo sapiens zinc finger protein 319 (ZNF319), mRNA.	373					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						CACATAGGCCGCATTTGAAGG	0.617000												
ZNF80	7634	broad.mit.edu	37	3	113955754	113955754	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:113955754G>A	uc010hqo.3	-	0	672	c.168C>T	c.(166-168)agC>agT	p.S56S	ZNF80_uc003ebf.3_Non-coding_Transcript	NM_007136	NP_009067	P51504	ZNF80_HUMAN	Homo sapiens zinc finger protein 80 (ZNF80), mRNA.	56						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			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)				TGTTAAACACGCTCCCACATT	0.478000												
C17orf53	78995	broad.mit.edu	37	17	42232005	42232005	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:42232005G>A	uc002ifi.2	+	5	1771	c.1534G>A	c.(1534-1536)Gcc>Acc	p.A512T	C17orf53_uc010czq.2_Missense_Mutation_p.A511T|C17orf53_uc002ifj.2_Missense_Mutation_p.A436T|C17orf53_uc002ifk.1_Non-coding_Transcript	NM_024032	NP_076937	Q8N3J3	CQ053_HUMAN	Homo sapiens chromosome 17 open reading frame 53 (C17orf53), transcript variant 1, mRNA.	512										NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CACAATGGACGCCAGTGTGGT	0.552000												
EVPL	2125	broad.mit.edu	37	17	74005331	74005331	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:74005331G>A	uc010wss.1	-	21	4249	c.4021C>T	c.(4021-4023)Cgc>Tgc	p.R1341C	EVPL_uc002jqi.2_Missense_Mutation_p.R1319C|EVPL_uc010wst.1_Missense_Mutation_p.R789C	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1319	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TTCTCGTGGCGCACCACCTCC	0.701000												
ARID1A	8289	broad.mit.edu	37	1	27105886	27105886	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:27105886C>T	uc001bmv.1	+	19	5870	c.5497C>T	c.(5497-5499)Cgt>Tgt	p.R1833C	ARID1A_uc001bmu.1_Missense_Mutation_p.R1616C|ARID1A_uc001bmx.1_Missense_Mutation_p.R679C|ARID1A_uc009vsm.1_Missense_Mutation_p.R161C|ARID1A_uc009vsn.1_Missense_Mutation_p.R75C	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1833					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TAAGCTTGGGCGTGTGCAGGA	0.512000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""							
ZYX	7791	broad.mit.edu	37	7	143087068	143087068	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:143087068G>A	uc003wcx.3	+	8	1770	c.1612G>A	c.(1612-1614)Gag>Aag	p.E538K	ZYX_uc011ktd.2_Missense_Mutation_p.E381K|ZYX_uc003wcw.3_Missense_Mutation_p.E538K|ZYX_uc011kte.2_Missense_Mutation_p.E507K|ZYX_uc011ktf.2_Missense_Mutation_p.E381K	NM_003461	NP_003452	Q15942	ZYX_HUMAN	Homo sapiens zyxin (ZYX), transcript variant 1, mRNA.	538	LIM zinc-binding 3.				cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					TTACAAGTGTGAGGTCAGCCA	0.572000												
CDC42BPB	9578	broad.mit.edu	37	14	103447231	103447231	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:103447231G>A	uc001ymi.1	-	7	1251	c.1019C>T	c.(1018-1020)gCg>gTg	p.A340V		NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	Homo sapiens CDC42 binding protein kinase beta (DMPK-like) (CDC42BPB), mRNA.	340	Protein kinase.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TTCAAAAAACGCATGCTTTTT	0.453000												
KCTD18	130535	broad.mit.edu	37	2	201369584	201369584	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:201369584C>T	uc002uvs.3	-	2	776	c.259G>A	c.(259-261)Gcc>Acc	p.A87T	KCTD18_uc002uvt.3_Missense_Mutation_p.A87T|KCTD18_uc002uvu.1_Missense_Mutation_p.A87T	NM_152387	NP_689600	Q6PI47	KCD18_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 18 (KCTD18), mRNA.	87						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.A87T(2)		endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						TCCTGTAGGGCGATGCGGGTT	0.433000												
CNOT7	29883	broad.mit.edu	37	8	17092325	17092325	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:17092325T>C	uc003wxf.1	-	4	686	c.518A>G	c.(517-519)aAc>aGc	p.N173S	CNOT7_uc003wxg.1_Missense_Mutation_p.N173S|CNOT7_uc003wxh.1_Missense_Mutation_p.N173S	NM_013354	NP_037486	Q9UIV1	CNOT7_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 7 (CNOT7), transcript variant 1, mRNA.	173					carbohydrate metabolic process|nuclear-transcribed mRNA poly(A) tail shortening	CCR4-NOT complex|cytoplasmic mRNA processing body|cytosol	nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)	11				Colorectal(111;0.0523)|COAD - Colon adenocarcinoma(73;0.209)		TTCAGGCAAGTTAGAGTTGGT	0.338000												
CRB1	23418	broad.mit.edu	37	1	197390881	197390881	+	Silent	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:197390881C>A	uc001gtz.3	+	5	2132	c.1923C>A	c.(1921-1923)ggC>ggA	p.G641G	CRB1_uc010poz.2_Silent_p.G572G|CRB1_uc009wza.3_Silent_p.G529G|CRB1_uc010ppa.2_Splice_Site|CRB1_uc010ppb.2_Silent_p.G641G|CRB1_uc010ppc.1_Splice_Site|CRB1_uc010ppd.2_Silent_p.G122G|CRB1_uc001gub.1_Silent_p.G290G	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	641	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						CGTTTGTAGGCTGTCTCCAAG	0.428000												
FAM120B	84498	broad.mit.edu	37	6	170627136	170627136	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:170627136G>A	uc003qxp.3	+	1	766	c.658G>A	c.(658-660)Gcc>Acc	p.A220T	FAM120B_uc003qxo.1_Missense_Mutation_p.A220T|FAM120B_uc011ehd.2_Intron	NM_032448	NP_115824	Q96EK7	F120B_HUMAN	Homo sapiens family with sequence similarity 120B (FAM120B), mRNA.	220					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.A220T(2)		endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		CCTCTGTGTGGCCGACCTTCC	0.522000												
PBXIP1	57326	broad.mit.edu	37	1	154919108	154919108	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:154919108C>T	uc001ffr.3	-	9	1101	c.1042G>A	c.(1042-1044)Ggc>Agc	p.G348S	PBXIP1_uc001ffs.3_Missense_Mutation_p.G319S|PBXIP1_uc010pep.2_Missense_Mutation_p.G193S	NM_020524	NP_065385	Q96AQ6	PBIP1_HUMAN	Homo sapiens pre-B-cell leukemia homeobox interacting protein 1 (PBXIP1), mRNA.	348					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CCATCTGGGCCCCGGACACAG	0.692000												
TTN	7273	broad.mit.edu	37	2	179666955	179666955	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:179666955C>T	uc021vsy.1	-	2	430	c.205G>A	c.(205-207)Gcc>Acc	p.A69T	TTN_uc021vsz.1_Missense_Mutation_p.A69T|TTN_uc021vta.1_Missense_Mutation_p.A69T|TTN_uc021vtb.1_Missense_Mutation_p.A69T|TTN_uc002unb.2_Missense_Mutation_p.A69T|TTN_uc002und.3_Missense_Mutation_p.A69T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	69	Ig-like 1.						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)			TTAGTCACGGCGGGGATCGTC	0.547000												
SLC17A9	63910	broad.mit.edu	37	20	61593988	61593988	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:61593988C>T	uc002yea.4	+	4	694	c.510C>T	c.(508-510)acC>acT	p.T170T	SLC17A9_uc002ydz.4_Silent_p.T164T|SLC17A9_uc011aap.1_Silent_p.T190T	NM_022082	NP_071365	Q9BYT1	S17A9_HUMAN	Homo sapiens solute carrier family 17, member 9 (SLC17A9), mRNA.	170					exocytosis|transmembrane transport	integral to membrane	transporter activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						CGCTGCTGACCGGGGCGGTGG	0.652000												
OR1L1	26737	broad.mit.edu	37	9	125424697	125424697	+	Missense_Mutation	SNP	C	C	T	rs78370954		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:125424697C>T	uc022bmz.1	+	0	703	c.703C>T	c.(703-705)Cgt>Tgt	p.R235C		NM_001005236	NP_001005236	Q8NH94	OR1L1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 1 (OR1L1), mRNA.	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						TGCTGGAAAGCGTAAAGCATT	0.428000												
SORCS3	22986	broad.mit.edu	37	10	107012607	107012607	+	Silent	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:107012607T>C	uc001kyi.1	+	22	3407	c.3180T>C	c.(3178-3180)atT>atC	p.I1060I	SORCS3_uc010qqz.1_Non-coding_Transcript	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	1060						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)		AGCTTTTCATTCTTCCACCCA	0.507000												
IFNG	3458	broad.mit.edu	37	12	68551823	68551823	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:68551823A>G	uc001stw.1	-	2	362	c.236T>C	c.(235-237)cTt>cCt	p.L79P		NM_000619	NP_000610	P01579	IFNG_HUMAN	Homo sapiens interferon, gamma (IFNG), mRNA.	79					cell cycle arrest|interferon-gamma-mediated signaling pathway|negative regulation of interleukin-17 production|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of metanephric nephron tubule epithelial cell differentiation|negative regulation of smooth muscle cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity|positive regulation of fructose 1,6-bisphosphate metabolic process|positive regulation of interleukin-12 production|positive regulation of interleukin-23 production|positive regulation of killing of cells of other organism|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mesenchymal cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of smooth muscle cell apoptosis|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|regulation of insulin secretion|regulation of interferon-gamma-mediated signaling pathway|response to virus	extracellular space	cytokine activity|interferon-gamma receptor binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000829)	Glucosamine(DB01296)|Interferon gamma-1b(DB00033)|Simvastatin(DB00641)	GTTTTTAAAAAGTTTGAAGTA	0.358000												
TSHZ1	10194	broad.mit.edu	37	18	72999579	72999579	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:72999579G>A	uc002lly.3	+	1	2645	c.2082G>A	c.(2080-2082)gaG>gaA	p.E694E	TSHZ1_uc021uln.1_Silent_p.E694E	NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	Homo sapiens teashirt zinc finger homeobox 1 (TSHZ1), mRNA.	739						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		ACTCACCGGAGCCTTCCTTCA	0.592000												
FBN3	84467	broad.mit.edu	37	19	8136980	8136980	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:8136980G>A	uc002mjf.3	-	61	8057	c.8040C>T	c.(8038-8040)ggC>ggT	p.G2680G	FBN3_uc002mje.3_Silent_p.G476G	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	2680						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GAGGGGAGAGGCCATTGATCT	0.647000												
EXOSC7	23016	broad.mit.edu	37	3	45030680	45030680	+	Missense_Mutation	SNP	G	G	A	rs146138646		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:45030680G>A	uc003coi.2	+	1	135	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K	EXOSC7_uc003coh.1_5'UTR|EXOSC7_uc011bae.2_Missense_Mutation_p.E36K|EXOSC7_uc010his.1_Intron	NM_015004	NP_055819	Q15024	EXOS7_HUMAN	Homo sapiens exosome component 7 (EXOSC7), transcript variant 1, mRNA.	36					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	3'-5'-exoribonuclease activity|RNA binding|protein binding			endometrium(3)|large_intestine(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(193;0.00911)|KIRC - Kidney renal clear cell carcinoma(197;0.0509)|Kidney(197;0.064)		CCGATGTGTCGAAGTGGAAAC	0.527000												
PLAG1	5324	broad.mit.edu	37	8	57079635	57079635	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:57079635G>A	uc003xsq.4	-	2	1121	c.670C>T	c.(670-672)Cga>Tga	p.R224*	PLAG1_uc003xsr.4_Nonsense_Mutation_p.R224*|PLAG1_uc010lyi.3_Nonsense_Mutation_p.R224*|PLAG1_uc010lyj.3_Nonsense_Mutation_p.R142*|PLAG1_uc022aur.1_Nonsense_Mutation_p.R142*	NM_001114635	NP_001108107	Q6DJT9	PLAG1_HUMAN	Homo sapiens pleiomorphic adenoma gene 1 (PLAG1), transcript variant 3, mRNA.	224	Decreased nuclear import with localization in the nucleus but also in the cytoplasm.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			TGATCCTTTCGCCCAAATCTC	0.478000			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma							
MRPS9	64965	broad.mit.edu	37	2	105713663	105713663	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:105713663A>G	uc002tcn.4	+	9	1048	c.980A>G	c.(979-981)gAc>gGc	p.D327G		NM_182640	NP_872578	P82933	RT09_HUMAN	Homo sapiens mitochondrial ribosomal protein S9 (MRPS9), nuclear gene encoding mitochondrial protein, mRNA.	327					DNA damage response, detection of DNA damage|translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						GGAAAGCACGACGTGACCTGC	0.512000												
WDR33	55339	broad.mit.edu	37	2	128471545	128471545	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:128471545G>A	uc002tpg.2	-	17	3119	c.2920C>T	c.(2920-2922)Cgg>Tgg	p.R974W		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	Homo sapiens WD repeat domain 33 (WDR33), transcript variant 1, mRNA.	974					postreplication repair|spermatogenesis	collagen|nucleus	protein binding	p.R973R(2)		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)		TGCTCATGCCGCCTCTCTGAC	0.632000												
NUP88	4927	broad.mit.edu	37	17	5312224	5312224	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:5312224G>A	uc010vsx.2	-	4	775	c.686C>T	c.(685-687)gCg>gTg	p.A229V	NUP88_uc002gbo.2_Missense_Mutation_p.A229V|NUP88_uc010cle.2_Missense_Mutation_p.A228V|NUP88_uc010vsy.2_Missense_Mutation_p.A229V	NM_002532	NP_002523	Q99567	NUP88_HUMAN	Homo sapiens nucleoporin 88kDa (NUP88), mRNA.	229					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						TGCGGTATACGCCCTTCTGGA	0.358000												
HIPK4	147746	broad.mit.edu	37	19	40889788	40889788	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:40889788C>T	uc002onp.3	-	1	1009	c.724G>A	c.(724-726)Gcc>Acc	p.A242T		NM_144685	NP_653286	Q8NE63	HIPK4_HUMAN	Homo sapiens homeodomain interacting protein kinase 4 (HIPK4), mRNA.	242	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			GCCTTGCAGGCGGCGTGCAAC	0.647000												
PTCHD1	139411	broad.mit.edu	37	X	23397938	23397938	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:23397938C>T	uc004dal.4	+	1	590	c.582C>T	c.(580-582)ggC>ggT	p.G194G	PTCHD1_uc010nfu.2_Silent_p.G194G	NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	Homo sapiens patched domain containing 1 (PTCHD1), mRNA.	194					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						AGCTTGGGGGCGTCACTGTGC	0.527000												
PCDH7	5099	broad.mit.edu	37	4	30724342	30724342	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:30724342C>T	uc003gsk.1	+	0	2306	c.1298C>T	c.(1297-1299)gCc>gTc	p.A433V	PCDH7_uc011bxx.2_Missense_Mutation_p.A433V|PCDH7_uc021xnd.1_Missense_Mutation_p.A433V|PCDH7_uc021xnc.1_Missense_Mutation_p.A433V	NM_002589	NP_002580	O60245	PCDH7_HUMAN	Homo sapiens protocadherin 7 (PCDH7), transcript variant a, mRNA.	433	Cadherin 4.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GCCAACGTGGCCGAGGACGTT	0.622000												
CAMK2N2	94032	broad.mit.edu	37	3	183978984	183978984	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:183978984C>T	uc003fnj.1	-	0	268	c.90G>A	c.(88-90)ctG>ctA	p.L30L	ECE2_uc003fni.4_Intron	NM_033259	NP_150284	Q96S95	CK2N2_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase II inhibitor 2 (CAMK2N2), mRNA.	30						cytosol|nucleus	protein kinase inhibitor activity					all_cancers(143;1.09e-10)|Ovarian(172;0.0339)		Epithelial(37;2.51e-33)|OV - Ovarian serous cystadenocarcinoma(80;5.69e-22)			TGGTGTCCTGCAGGCGGCAGC	0.701000												
ERC1	23085	broad.mit.edu	37	12	1137114	1137114	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:1137114C>T	uc001qjb.2	+	1	286	c.45C>T	c.(43-45)agC>agT	p.S15S	ERC1_uc001qiz.2_Non-coding_Transcript|ERC1_uc001qjc.2_Silent_p.S15S|ERC1_uc001qja.2_Non-coding_Transcript|ERC1_uc001qjd.2_Non-coding_Transcript|ERC1_uc001qjf.2_Silent_p.S15S	NM_178040	NP_829884	Q8IUD2	RB6I2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 1 (ERC1), transcript variant epsilon, mRNA.	15					I-kappaB phosphorylation|multicellular organismal development|positive regulation of NF-kappaB transcription factor activity|positive regulation of anti-apoptosis|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			AGCCGAGCAGCCAGAGCCCTG	0.557000												
AMPD2	271	broad.mit.edu	37	1	110172028	110172028	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:110172028C>T	uc009wfh.1	+	14	2482	c.1940C>T	c.(1939-1941)gCg>gTg	p.A647V	AMPD2_uc009wfg.1_Non-coding_Transcript|AMPD2_uc001dyb.1_Missense_Mutation_p.A566V|AMPD2_uc001dyc.1_Missense_Mutation_p.A647V|AMPD2_uc010ovr.1_Missense_Mutation_p.A572V|AMPD2_uc001dyd.1_Missense_Mutation_p.A528V|AMPD2_uc001dye.1_5'UTR	NM_004037	NP_004028	Q01433	AMPD2_HUMAN	Homo sapiens adenosine monophosphate deaminase 2 (AMPD2), transcript variant 1, mRNA.	647					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		CTGCCTGAGGCGTGGGTGGAG	0.562000												
LDLRAP1	26119	broad.mit.edu	37	1	25883728	25883728	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:25883728C>T	uc001bkl.4	+	3	543	c.429C>T	c.(427-429)tgC>tgT	p.C143C		NM_015627	NP_056442	Q5SW96	ARH_HUMAN	Homo sapiens low density lipoprotein receptor adaptor protein 1 (LDLRAP1), mRNA.	143	PID.				amyloid precursor protein metabolic process|cholesterol homeostasis|cholesterol metabolic process|positive regulation of receptor-mediated endocytosis|receptor internalization|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport|regulation of establishment of protein localization in plasma membrane|regulation of protein binding	basal plasma membrane|cytosol|early endosome|internal side of plasma membrane|neurofilament|recycling endosome	beta-amyloid binding|clathrin binding|low-density lipoprotein particle receptor binding|phosphatidylinositol-4,5-bisphosphate binding|phosphotyrosine binding|protein binding, bridging|protein complex binding|receptor signaling complex scaffold activity|signaling adaptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649)		GCCTCGAGTGCCACGCCTTCC	0.622000												
BCAS4	55653	broad.mit.edu	37	20	49446904	49446904	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:49446904T>C	uc002xvq.3	+	2	405	c.341T>C	c.(340-342)gTg>gCg	p.V114A	BCAS4_uc002xvp.1_Missense_Mutation_p.V114A|BCAS4_uc002xvr.3_Missense_Mutation_p.V114A|BCAS4_uc002xvs.3_Missense_Mutation_p.V114A	NM_017843	NP_060313	Q8TDM0	BCAS4_HUMAN	Homo sapiens breast carcinoma amplified sequence 4 (BCAS4), transcript variant 1, mRNA.	114						cytoplasm				large_intestine(2)|lung(2)|pancreas(1)|upper_aerodigestive_tract(1)	6						TATGCCAAAGTGGACCGGCTA	0.502000												
BPTF	2186	broad.mit.edu	37	17	65850239	65850239	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:65850239G>A	uc002jgf.3	+	1	858	c.797G>A	c.(796-798)cGc>cAc	p.R266H	BPTF_uc002jge.3_Missense_Mutation_p.R266H|BPTF_uc010wqm.1_Missense_Mutation_p.R266H	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	266	DDT.				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex|cytoplasm	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TCTCCTTTTCGCTTTGAGGAC	0.443000												
PTCHD3	374308	broad.mit.edu	37	10	27702950	27702950	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:27702950C>T	uc001itu.2	-	0	348	c.230G>A	c.(229-231)cGg>cAg	p.R77Q		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	77					spermatid development	integral to membrane	hedgehog receptor activity	p.P76S(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CATCGACGGCCGGGGGGGTGC	0.721000												
MYO9B	4650	broad.mit.edu	37	19	17295741	17295741	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:17295741C>T	uc010eak.3	+	16	2593	c.2441C>T	c.(2440-2442)tCc>tTc	p.S814F	MYO9B_uc002nfi.3_Missense_Mutation_p.S814F|MYO9B_uc002nfj.1_Missense_Mutation_p.S814F	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	Homo sapiens myosin IXB (MYO9B), transcript variant 1, mRNA.	814	Myosin head-like.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	ADP binding|ATP binding|ATPase activity|Rho GTPase activator activity|actin binding|calmodulin binding|metal ion binding|microfilament motor activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						ACCACCAAGTCCCTACTGCAC	0.582000												
LRP2	4036	broad.mit.edu	37	2	170048452	170048452	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:170048452G>A	uc002ues.3	-	47	9135	c.8922C>T	c.(8920-8922)ggC>ggT	p.G2974G		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	2974	LDL-receptor class A 22.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity	p.G2974G(2)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AATCCACATCGCCATCACAGA	0.478000												
ABL1	25	broad.mit.edu	37	9	133738377	133738377	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:133738377C>T	uc004bzw.3	+	3	780	c.777C>T	c.(775-777)ggC>ggT	p.G259G	ABL1_uc004bzv.3_Silent_p.G278G|AX748265_uc004bzx.1_5'Flank	NM_005157	NP_005148	P00519	ABL1_HUMAN	Homo sapiens c-abl oncogene 1, non-receptor tyrosine kinase (ABL1), transcript variant a, mRNA.	259	Protein kinase.				DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|SH3 domain binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding	p.E258V(1)|p.L248_K274del(1)		breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	TGTACGAGGGCGTGTGGAAGA	0.627000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""							
GPR52	9293	broad.mit.edu	37	1	174417942	174417942	+	RNA	SNP	T	T	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:174417942T>A	uc010pmu.1	-	0		c.393A>T			RABGAP1L_uc001gjw.3_Intron|RABGAP1L_uc001gjx.3_Intron|RABGAP1L_uc001gjy.3_Intron|RABGAP1L_uc001gjz.3_Intron|GPR52_uc001gka.1_Silent_p.R231R			Q9Y2T5	GPR52_HUMAN	Synthetic construct Homo sapiens gateway clone IMAGE:100022628 3' read GPR52 mRNA.							integral to plasma membrane	G-protein coupled receptor activity			breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						AAATTTGCCGTCAGCACACCA	0.458000												
SELPLG	6404	broad.mit.edu	37	12	109017769	109017769	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:109017769C>A	uc010sxe.2	-	1	540	c.363G>T	c.(361-363)gaG>gaT	p.E121D	SELPLG_uc001tni.3_Missense_Mutation_p.E105D|SELPLG_uc021rdm.1_Missense_Mutation_p.E105D|SELPLG_uc001tnh.3_Missense_Mutation_p.E105D	NM_001206609	NP_001193538	Q14242	SELPL_HUMAN	Homo sapiens selectin P ligand (SELPLG), transcript variant 1, mRNA.	105					blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						TGTTGGCCAGCTCCGTGGTCA	0.602000												
TLR4	7099	broad.mit.edu	37	9	120476537	120476537	+	Missense_Mutation	SNP	G	G	T	rs56225594		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:120476537G>T	uc004bjz.3	+	2	2422	c.2131G>T	c.(2131-2133)Gac>Tac	p.D711Y	TLR4_uc004bkb.3_Missense_Mutation_p.D511Y|TLR4_uc004bka.3_Missense_Mutation_p.D671Y	NM_138554	NP_612564	O00206	TLR4_HUMAN	Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA.	711	TIR.				I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	p.D711Y(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						TCACTACAGAGACTTTATTCC	0.468000												
PFN2	5217	broad.mit.edu	37	3	149684317	149684317	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:149684317C>T	uc003ext.1	-	2	480	c.382G>A	c.(382-384)Gca>Aca	p.A128T	PFN2_uc003exu.1_Intron|PFN2_uc011bnu.1_Intron	NM_053024	NP_444252	P35080	PROF2_HUMAN	Homo sapiens profilin 2 (PFN2), transcript variant 1, mRNA.	128					actin cytoskeleton organization|regulation of actin polymerization or depolymerization	actin cytoskeleton|cytoplasm	actin binding|phosphatidylinositol-4,5-bisphosphate binding			large_intestine(1)|lung(4)|ovary(1)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			ATTGAGTATGCCTTCTTATTC	0.388000												
ABL2	27	broad.mit.edu	37	1	179078138	179078138	+	Missense_Mutation	SNP	C	C	T	rs147435995		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:179078138C>T	uc001gmj.4	-	11	2551	c.2264G>A	c.(2263-2265)cGc>cAc	p.R755H	ABL2_uc010pnf.2_Intron|ABL2_uc010png.2_Intron|ABL2_uc010pnh.2_Missense_Mutation_p.R734H|ABL2_uc001gmg.4_Intron|ABL2_uc001gmi.4_Missense_Mutation_p.R740H|ABL2_uc010pne.2_Intron	NM_007314	NP_009298	P42684	ABL2_HUMAN	Homo sapiens v-abl Abelson murine leukemia viral oncogene homolog 2 (ABL2), transcript variant b, mRNA.	755	F-actin-binding (By similarity).				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	TTTGATTAAGCGTGGTGTAAA	0.532000			T	ETV6	AML							
TAF5L	27097	broad.mit.edu	37	1	229730363	229730363	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:229730363G>A	uc001htq.3	-	4	1617	c.1451C>T	c.(1450-1452)gCg>gTg	p.A484V		NM_014409	NP_055224	O75529	TAF5L_HUMAN	Homo sapiens TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa (TAF5L), transcript variant 1, mRNA.	484					histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				GCCAGCAGACGCCAAGTACTT	0.587000												
FAM50B	26240	broad.mit.edu	37	6	3850869	3850869	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:3850869G>A	uc003mvu.3	+	1	936	c.824G>A	c.(823-825)cGc>cAc	p.R275H	FAM50B_uc021ykt.1_Missense_Mutation_p.R275H	NM_012135	NP_036267	Q9Y247	FA50B_HUMAN	Homo sapiens family with sequence similarity 50, member B (FAM50B), mRNA.	275						nucleus				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				GATGACGTGCGCCTGCTCAGC	0.627000												
ATP11C	286410	broad.mit.edu	37	X	138844225	138844225	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:138844225G>A	uc004faz.3	-	21	2643	c.2544C>T	c.(2542-2544)agC>agT	p.S848S	ATP11C_uc004fax.3_Silent_p.S56S|ATP11C_uc004fay.3_Non-coding_Transcript|ATP11C_uc004fba.3_Silent_p.S848S	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	Homo sapiens ATPase, class VI, type 11C (ATP11C), transcript variant 1, mRNA.	848					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					CAGAATAATCGCTATTCCTAG	0.363000												
ELMO3	79767	broad.mit.edu	37	16	67234673	67234673	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:67234673C>T	uc002esa.3	+	6	829	c.786C>T	c.(784-786)agC>agT	p.S262S	ELMO3_uc002esb.3_Silent_p.S245S|ELMO3_uc002esc.3_Silent_p.S96S	NM_024712	NP_078988	Q96BJ8	ELMO3_HUMAN	Homo sapiens engulfment and cell motility 3 (ELMO3), mRNA.	209					apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding			cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		TGGTCAAGAGCGAGGTGCCCC	0.632000												
CTDSP2	10106	broad.mit.edu	37	12	58223300	58223300	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:58223300C>T	uc001sqm.3	-	1	673	c.144G>A	c.(142-144)caG>caA	p.Q48Q	CTDSP2_uc009zqf.3_5'UTR|CTDSP2_uc009zqg.3_Intron	NM_005730	NP_005721	O14595	CTDS2_HUMAN	Homo sapiens CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 (CTDSP2), mRNA.	48					protein dephosphorylation	nucleus|soluble fraction	CTD phosphatase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7	all_neural(12;0.00559)|Glioma(12;0.0143)|Melanoma(17;0.122)					GGCCAACATGCTGGGCGCGAA	0.537000												
ZNF480	147657	broad.mit.edu	37	19	52825228	52825228	+	Missense_Mutation	SNP	G	G	A	rs148271899	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:52825228G>A	uc010ydl.2	+	4	795	c.725G>A	c.(724-726)cGc>cAc	p.R242H	ZNF480_uc002pyv.3_Missense_Mutation_p.R165H|ZNF480_uc010ydm.2_Missense_Mutation_p.R199H|ZNF480_uc010epn.3_Missense_Mutation_p.R73H|AK097759_uc002pyw.1_Intron	NM_144684	NP_653285	Q8WV37	ZN480_HUMAN	Homo sapiens zinc finger protein 480 (ZNF480), mRNA.	242					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		GTCTTTAGTCGCAATTCACAC	0.363000												
LRFN2	57497	broad.mit.edu	37	6	40400194	40400194	+	Missense_Mutation	SNP	C	C	T	rs140980612		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:40400194C>T	uc003oph.1	-	1	1124	c.659G>A	c.(658-660)cGc>cAc	p.R220H		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.	220						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)					AGCCTGGGAGCGGGCAAAGAT	0.587000												
SLC6A17	388662	broad.mit.edu	37	1	110737374	110737374	+	Silent	SNP	G	G	A	rs143840691		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:110737374G>A	uc009wfq.3	+	8	1934	c.1473G>A	c.(1471-1473)gtG>gtA	p.V491V	SLC6A17_uc001dze.1_Silent_p.V89V	NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN	Homo sapiens solute carrier family 6, member 17 (SLC6A17), mRNA.	491					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		CCTTCAAGGTGCCCAAGGAGA	0.577000												
PTEN	5728	broad.mit.edu	37	10	89717713	89717713	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:89717713G>A	uc001kfb.3	+	6	1770	c.738G>A	c.(736-738)ccG>ccA	p.P246P	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	246	C2 tensin-type.		P -> L (in CD and BZS).		T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.P246L(8)|p.Q245*(8)|p.P246fs*10(6)|p.R55fs*1(5)|p.P246fs*3(2)|p.P246fs*11(2)|p.L247fs*10(2)|p.N212fs*1(2)|p.P246_L247insGP(2)|p.Y27fs*1(2)|p.P246fs*9(1)|p.P246fs*14(1)|p.P246fs*12(1)|p.Q245fs*8(1)|p.L247fs*11(1)|p.L247fs*12(1)|p.?(1)|p.F243fs*9(1)|p.Q245fs*20(1)|p.G165_K342del(1)|p.L247fs*8(1)|p.G165_*404del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TCCCTCAGCCGTTACCTGTGT	0.413000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)		
PXDN	7837	broad.mit.edu	37	2	1652167	1652167	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:1652167G>A	uc002qxa.3	-	16	3449	c.3385C>T	c.(3385-3387)Cgt>Tgt	p.R1129C		NM_012293	NP_036425	Q92626	PXDN_HUMAN	Homo sapiens peroxidasin homolog (Drosophila) (PXDN), mRNA.	1129					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GAGGGCACACGCATTTTCCCC	0.627000												
ITPR1	3708	broad.mit.edu	37	3	4825528	4825528	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:4825528G>A	uc003bqc.3	+	49	6844	c.6494G>A	c.(6493-6495)aGc>aAc	p.S2165N	ITPR1_uc021wsi.1_Missense_Mutation_p.S2132N|ITPR1_uc021wsj.1_Missense_Mutation_p.S2117N|ITPR1_uc011asu.2_Intron	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	2180					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GAACTTCAGAGCATGCTGAAA	0.488000												
HMCN1	83872	broad.mit.edu	37	1	186158685	186158685	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:186158685C>T	uc001grq.1	+	106	16812	c.16583C>T	c.(16582-16584)gCc>gTc	p.A5528V	MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_Missense_Mutation_p.A980V	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	5528					response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TTGGAATGTGCCTTGAGCCCA	0.443000												
LAP3	51056	broad.mit.edu	37	4	17586688	17586688	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:17586688G>A	uc003gph.1	+	5	795	c.633G>A	c.(631-633)acG>acA	p.T211T	LAP3_uc010ieg.3_3'UTR	NM_015907	NP_056991	P28838	AMPL_HUMAN	Homo sapiens leucine aminopeptidase 3 (LAP3), mRNA.	211					proteolysis	nucleus	aminopeptidase activity|magnesium ion binding|manganese ion binding|metalloexopeptidase activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						ATGAGATGACGCCAACCAGAT	0.488000												
GPR158	57512	broad.mit.edu	37	10	25887280	25887280	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:25887280G>A	uc001isj.3	+	10	2785	c.2725G>A	c.(2725-2727)Gcc>Acc	p.A909T	GPR158_uc001isk.3_Missense_Mutation_p.A284T	NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	909						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.S908I(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CATAGCAAGCGCCAAGGAGAA	0.478000												
ABCA2	20	broad.mit.edu	37	9	139912013	139912013	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:139912013G>A	uc004ckm.1	-	16	2480	c.2430C>T	c.(2428-2430)agC>agT	p.S810S	ABCA2_uc022bpy.1_Silent_p.S711S|ABCA2_uc022bpz.1_Silent_p.S781S|ABCA2_uc011mem.1_Silent_p.S780S|ABCA2_uc004ckl.1_Silent_p.S711S|ABCA2_uc004ckn.1_Non-coding_Transcript	NM_212533	NP_997698	Q9BZC7	ABCA2_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 2 (ABCA2), transcript variant 2, mRNA.	780					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TGACCACGTGGCTGTGCATAA	0.612000												
SLIT2	9353	broad.mit.edu	37	4	20597356	20597356	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:20597356C>T	uc003gpr.1	+	30	3423	c.3219C>T	c.(3217-3219)tgC>tgT	p.C1073C	SLIT2_uc003gps.1_Silent_p.C1065C	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	1073	EGF-like 4.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GTGAACACTGCGACATCGATT	0.463000												
NRXN1	9378	broad.mit.edu	37	2	51255287	51255287	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:51255287C>T	uc021vhh.1	-	0	1046	c.125G>A	c.(124-126)cGc>cAc	p.R42H	NRXN1_uc021vhg.1_Missense_Mutation_p.R42H|NRXN1_uc021vhi.1_Missense_Mutation_p.R42H|NRXN1_uc021vhj.1_Missense_Mutation_p.R42H|NRXN1_uc021vhk.1_Missense_Mutation_p.R42H	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	42	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CTTGGGGAAGCGCGTCCATTG	0.672000												
RAB5C	5878	broad.mit.edu	37	17	40280741	40280741	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:40280741G>A	uc010cxx.3	-	3	700	c.343C>T	c.(343-345)Cgg>Tgg	p.R115W	RAB5C_uc002hyz.3_Missense_Mutation_p.R82W|RAB5C_uc002hza.3_Missense_Mutation_p.R82W	NM_001252039	NP_001238968	P51148	RAB5C_HUMAN	Homo sapiens RAB5C, member RAS oncogene family (RAB5C), transcript variant 3, mRNA.	82					protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GTP binding|GTPase activity|protein binding			large_intestine(1)|lung(4)|prostate(1)|skin(1)	7		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		CTGTGATACCGCTCCTGTCCA	0.547000												
HOXA6	3203	broad.mit.edu	37	7	27185359	27185359	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:27185359C>T	uc003syo.2	-	1	645	c.620G>A	c.(619-621)cGc>cAc	p.R207H	HOXA-AS3_uc003syr.2_Intron|HOXA5_uc003syn.2_5'Flank|HOXA-AS3_uc003syp.2_5'Flank	NM_024014	NP_076919	P31267	HXA6_HUMAN	Homo sapiens homeobox A6 (HOXA6), mRNA.	207						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R206R(1)		central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1)	10						CCACTTCATGCGGCGGTTCTG	0.602000												
LCN9	392399	broad.mit.edu	37	9	138557549	138557549	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:138557549C>T	uc004cgk.1	+	4	426	c.426C>T	c.(424-426)tgC>tgT	p.C142C		NM_001001676	NP_001001676	Q8WX39	LCN9_HUMAN	Homo sapiens lipocalin 9 (LCN9), mRNA.	142						extracellular region	pheromone binding|transporter activity			kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	6		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05)		AAGAAACCTGCGAAAAGTACG	0.572000												
EGR4	1961	broad.mit.edu	37	2	73518781	73518781	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:73518781C>A	uc010yrj.2	-	1	1649	c.1574G>T	c.(1573-1575)aGc>aTc	p.S525I	EGR4_uc010yrk.1_Missense_Mutation_p.S524I	NM_001965	NP_001956	B7ZKU3	B7ZKU3_HUMAN	Homo sapiens early growth response 4 (EGR4), mRNA.	421						intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GAGGTGGTCGCTGCGGCTGAA	0.662000												
SLC27A1	376497	broad.mit.edu	37	19	17615413	17615413	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:17615413G>A	uc002ngu.1	+	11	1983	c.1933G>A	c.(1933-1935)Gcc>Acc	p.A645T	SLC27A1_uc010xpp.1_Missense_Mutation_p.A466T|SLC27A1_uc002ngv.1_Missense_Mutation_p.A247T	NM_198580	NP_940982	Q6PCB7	S27A1_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 1 (SLC27A1), mRNA.	645					cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GGGCGCCTTCGCCCTCTGAAG	0.622000												
VPS16	64601	broad.mit.edu	37	20	2840446	2840446	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:2840446C>T	uc002whe.3	+	1	183	c.135C>T	c.(133-135)ggC>ggT	p.G45G	VPS16_uc002whf.3_Silent_p.G45G|VPS16_uc002whg.3_5'Flank	NM_022575	NP_072097	Q9H269	VPS16_HUMAN	Homo sapiens vacuolar protein sorting 16 homolog (S. cerevisiae) (VPS16), transcript variant 1, mRNA.	45					intracellular protein transport	HOPS complex|early endosome|late endosome membrane|lysosomal membrane|recycling endosome				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						CCTATGGGGGCCCCATTGGTA	0.572000												
ELMO1	9844	broad.mit.edu	37	7	37253022	37253022	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:37253022G>A	uc022abv.1	-	11	1582	c.872C>T	c.(871-873)gCg>gTg	p.A291V	ELMO1_uc011kbc.2_Missense_Mutation_p.A195V|ELMO1_uc003tfk.2_Missense_Mutation_p.A291V|ELMO1_uc010kxg.2_Missense_Mutation_p.A291V	NM_001206482	NP_001193411	Q92556	ELMO1_HUMAN	Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA.	291					Rac protein signal transduction|actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						CAGCTGGTGCGCCATCTCATT	0.458000												
C1QTNF5	114902	broad.mit.edu	37	11	119213674	119213674	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:119213674C>T	uc010rzg.1	-	7	1098	c.938G>A	c.(937-939)cGc>cAc	p.R313H	C1QTNF5_uc001pwj.2_5'UTR			Q9BY79	MFRP_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 5 (C1QTNF5), mRNA.	467	CUB 2.				embryo development	integral to membrane				endometrium(1)|lung(2)	3		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		GCTCATGGTGCGAGGAGACGA	0.617000												
EXPH5	23086	broad.mit.edu	37	11	108409786	108409786	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:108409786C>A	uc001pkk.3	-	2	519	c.408G>T	c.(406-408)aaG>aaT	p.K136N	EXPH5_uc010rvz.2_5'Flank|EXPH5_uc010rvy.2_5'Flank	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	136					intracellular protein transport		Rab GTPase binding	p.K136N(2)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TTGAAGTCTCCTTTCCAGATT	0.438000												
EP400	57634	broad.mit.edu	37	12	132514593	132514593	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:132514593C>A	uc001ujn.3	+	28	5796	c.5644C>A	c.(5644-5646)Ctg>Atg	p.L1882M	EP400_uc021rgq.1_Missense_Mutation_p.L1881M|EP400_uc001ujm.3_Missense_Mutation_p.L1801M|SNORA49_uc001ujo.3_5'Flank	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	1918					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		ACGTCGGGTGCTGATTTTATC	0.418000												
OR8K1	390157	broad.mit.edu	37	11	56114241	56114241	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:56114241G>A	uc010rjg.2	+	0	727	c.727G>A	c.(727-729)Gcc>Acc	p.A243T		NM_001002907	NP_001002907	Q8NGG5	OR8K1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 1 (OR8K1), mRNA.	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					GAGGTACAAAGCCTTCTCCAC	0.413000										HNSCC(65;0.19)		
INO80	54617	broad.mit.edu	37	15	41276493	41276493	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:41276493T>C	uc001zni.3	-	32	4192	c.3979A>G	c.(3979-3981)Atc>Gtc	p.I1327V	INO80_uc010ucu.2_Non-coding_Transcript|INO80_uc021sjj.1_Missense_Mutation_p.I121V	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN	Homo sapiens INO80 homolog (S. cerevisiae) (INO80), mRNA.	1327	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				UV-damage excision repair|cell division|cellular response to UV|cellular response to ionizing radiation|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of DNA replication involved in S phase|positive regulation of cell growth|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly	Ino80 complex|microtubule	ATP binding|ATPase activity|DNA binding|DNA helicase activity|actin binding|alpha-tubulin binding			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						ACAAATGGGATCACCAGGTTC	0.478000												
ANGEL1	23357	broad.mit.edu	37	14	77255579	77255579	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:77255579C>T	uc001xsv.3	-	9	2118	c.2005G>A	c.(2005-2007)Gcc>Acc	p.A669T	AK125727_uc001xsu.1_5'Flank	NM_015305	NP_056120	Q9UNK9	ANGE1_HUMAN	Homo sapiens angel homolog 1 (Drosophila) (ANGEL1), mRNA.	669										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		TGTCATGGGGCGGTGACTTCC	0.537000												
MAPKAP1	79109	broad.mit.edu	37	9	128434766	128434766	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:128434766C>T	uc004bpv.3	-	1	421	c.88G>A	c.(88-90)Gtt>Att	p.V30I	MAPKAP1_uc004bpw.3_Intron|MAPKAP1_uc004bpx.3_Intron|MAPKAP1_uc004bpy.3_Missense_Mutation_p.V30I|MAPKAP1_uc004bpz.3_Missense_Mutation_p.V30I|MAPKAP1_uc010mxa.3_Non-coding_Transcript|MAPKAP1_uc004bqa.3_Missense_Mutation_p.V30I	NM_001006617	NP_001006622	Q9BPZ7	SIN1_HUMAN	Homo sapiens mitogen-activated protein kinase associated protein 1 (MAPKAP1), transcript variant 1, mRNA.	30	Interaction with MAP3K2.				T cell costimulation|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress	cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	Ras GTPase binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						TCAATGAGAACCATCTCACAC	0.468000												
GPR45	11250	broad.mit.edu	37	2	105858977	105858977	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:105858977C>T	uc002tco.1	+	0	778	c.662C>T	c.(661-663)aCg>aTg	p.T221M		NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN	Homo sapiens G protein-coupled receptor 45 (GPR45), mRNA.	221						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						ATCCTCAACACGGTCCGCAAG	0.677000												
C10orf137	26098	broad.mit.edu	37	10	127414270	127414270	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:127414270G>A	uc001liq.1	+	5	948	c.655G>A	c.(655-657)Gct>Act	p.A219T	C10orf137_uc001lin.3_Missense_Mutation_p.A219T|C10orf137_uc001lip.1_5'UTR|C10orf137_uc001lio.1_Missense_Mutation_p.A219T	NM_001202438	NP_001189367	Q3B7T1	EDRF1_HUMAN	Homo sapiens chromosome 10 open reading frame 137 (C10orf137), transcript variant 1, mRNA.	219					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TGATGGAGCCGCTCAGCCTGT	0.458000												
PRPF3	9129	broad.mit.edu	37	1	150305209	150305209	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:150305209C>A	uc001eum.4	+	4	640	c.478C>A	c.(478-480)Ctg>Atg	p.L160M	PRPF3_uc009wlp.2_Non-coding_Transcript|PRPF3_uc010pca.2_Missense_Mutation_p.L119M|PRPF3_uc010pcb.2_Missense_Mutation_p.L111M|PRPF3_uc009wlq.1_5'Flank	NM_004698	NP_004689	O43395	PRPF3_HUMAN	Homo sapiens PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae) (PRPF3), mRNA.	160					nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		GAAAAAACAGCTGAGCTTCAT	0.408000												
NEB	4703	broad.mit.edu	37	2	152580820	152580820	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:152580820G>A	uc021vrb.1	-	5	595	c.566C>T	c.(565-567)gCc>gTc	p.A189V	NEB_uc002txu.3_Missense_Mutation_p.A189V|NEB_uc021vrc.1_Missense_Mutation_p.A189V|NEB_uc010fnx.3_Missense_Mutation_p.A189V|NEB_uc021vrd.1_Missense_Mutation_p.A189V	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	189					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AAGTTCAGGGGCATCAGGAGG	0.493000												
GPS2	2874	broad.mit.edu	37	17	7226176	7226176	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:7226176G>A	uc002gga.1	-	15	2610	c.2603C>T	c.(2602-2604)gCg>gTg	p.A868V	GPS2_uc002ggb.1_Missense_Mutation_p.A866V|GPS2_uc002ggc.1_Missense_Mutation_p.A214V	NM_032442	NP_115818	Q13227	GPS2_HUMAN	Homo sapiens neuralized homolog 4 (Drosophila) (NEURL4), transcript variant 1, mRNA.	0					JNK cascade|cell cycle|inactivation of MAPK activity|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				ATCGACTACCGCATACACCTC	0.597000												
CRB2	286204	broad.mit.edu	37	9	126132729	126132729	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:126132729G>A	uc004bnx.1	+	6	1489	c.1397G>A	c.(1396-1398)cGc>cAc	p.R466H	CRB2_uc004bnw.1_Missense_Mutation_p.R466H	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	Homo sapiens crumbs homolog 2 (Drosophila) (CRB2), mRNA.	466	Laminin G-like 1.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						CTGAGGTTTCGCACCACACTG	0.612000												
USP7	7874	broad.mit.edu	37	16	8994445	8994445	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:8994445C>T	uc002czl.2	-	20	2450	c.2251G>A	c.(2251-2253)Gtg>Atg	p.V751M	USP7_uc010uyk.1_Missense_Mutation_p.V652M|USP7_uc010uyj.1_Missense_Mutation_p.V652M|USP7_uc002czk.2_Missense_Mutation_p.V735M	NM_003470	NP_003461	Q93009	UBP7_HUMAN	Homo sapiens ubiquitin specific peptidase 7 (herpes virus-associated) (USP7), mRNA.	751	Interaction with ICP0/VMW110.				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	PML body|cytoplasm	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						TCAAGAGACACGTCATAGTCC	0.343000												
AIG1	51390	broad.mit.edu	37	6	143382137	143382137	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:143382137G>T	uc003qjh.3	+	0	115	c.75G>T	c.(73-75)aaG>aaT	p.K25N	AIG1_uc003qjf.3_Missense_Mutation_p.K15N|AIG1_uc003qji.3_Missense_Mutation_p.K15N|AIG1_uc011edw.1_Missense_Mutation_p.K25N|AIG1_uc003qjg.3_Missense_Mutation_p.K25N	NM_016108	NP_057192	Q9NVV5	AIG1_HUMAN	Homo sapiens androgen-induced 1 (AIG1), mRNA.	25						integral to membrane				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(155;2.34e-05)|GBM - Glioblastoma multiforme(68;0.0246)		GTAACTACAAGGCCATCGAAA	0.602000												
ZBTB39	9880	broad.mit.edu	37	12	57397343	57397343	+	Silent	SNP	G	G	A	rs150115700		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:57397343G>A	uc001sml.2	-	1	1512	c.1359C>T	c.(1357-1359)tgC>tgT	p.C453C	ZBTB39_uc021qzg.1_Silent_p.C453C	NM_014830	NP_055645	O15060	ZBT39_HUMAN	Homo sapiens zinc finger and BTB domain containing 39 (ZBTB39), mRNA.	453					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						CACAGGCAGCGCATTTCAGCT	0.552000												
TRO	7216	broad.mit.edu	37	X	54949812	54949812	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:54949812G>A	uc004dtq.3	+	2	954	c.847G>A	c.(847-849)Gca>Aca	p.A283T	TRO_uc011moj.1_Missense_Mutation_p.A226T|TRO_uc004dts.3_Missense_Mutation_p.A283T|TRO_uc004dtr.3_Missense_Mutation_p.A283T|TRO_uc004dtt.3_Non-coding_Transcript|TRO_uc004dtu.3_Intron|TRO_uc004dtv.3_Intron|TRO_uc011mok.2_Intron|TRO_uc004dtw.3_Intron|TRO_uc004dtx.3_5'Flank	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	Homo sapiens trophinin (TRO), transcript variant 6, mRNA.	283					embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						TGTCACTGACGCAGCTACCAG	0.498000												
COL6A2	1292	broad.mit.edu	37	21	47545767	47545767	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr21:47545767C>T	uc002zia.1	+	25	2120	c.2038C>T	c.(2038-2040)Cgt>Tgt	p.R680C	COL6A2_uc002zhz.1_Missense_Mutation_p.R680C|COL6A2_uc002zhy.1_Missense_Mutation_p.R680C|COL6A2_uc010gqe.2_5'Flank	NM_001849	NP_001840	P12110	CO6A2_HUMAN	Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.	680	Nonhelical region.|VWFA 2.		R -> H (in dbSNP:rs1042917).		axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GGACGACGAACGTATCGACTC	0.627000												
IHH	3549	broad.mit.edu	37	2	219920499	219920499	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:219920499G>A	uc002vjo.2	-	2	715	c.666C>T	c.(664-666)gcC>gcT	p.A222A		NM_002181	NP_002172	Q14623	IHH_HUMAN	Homo sapiens Indian hedgehog (IHH), mRNA.	222					cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCGGCCTCACGGCTGACAAGG	0.672000												
GALNTL1	57452	broad.mit.edu	37	14	69791495	69791495	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:69791495G>A	uc001xlb.2	+	2	749	c.422G>A	c.(421-423)cGc>cAc	p.R141H	GALNTL1_uc001xla.2_Missense_Mutation_p.R141H|GALNTL1_uc010aqu.2_Missense_Mutation_p.R141H	NM_020692	NP_065743	Q8N428	GLTL1_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1 (GALNTL1), transcript variant 2, mRNA.	141	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|stomach(2)	24				all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656)		ACCCTGCTGCGCACAGTGAAG	0.602000												
CDCA7L	55536	broad.mit.edu	37	7	21943869	21943869	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:21943869C>T	uc010kuk.3	-	7	1176	c.1056G>A	c.(1054-1056)acG>acA	p.T352T	CDCA7L_uc003sve.4_Silent_p.T318T|CDCA7L_uc010kul.3_Silent_p.T306T|CDCA7L_uc003svf.4_Silent_p.T351T	NM_018719	NP_001120842	Q96GN5	CDA7L_HUMAN	Homo sapiens cell division cycle associated 7-like (CDCA7L), transcript variant 1, mRNA.	352					positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						ACTGATGGCACGTGTTACCCT	0.537000												
MED12L	116931	broad.mit.edu	37	3	150877785	150877785	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:150877785G>A	uc003eyp.3	+	6	1133	c.1004G>A	c.(1003-1005)gGc>gAc	p.G335D	MED12L_uc011bnz.2_Intron|MED12L_uc003eyn.3_Missense_Mutation_p.G335D|MED12L_uc003eyo.3_Missense_Mutation_p.G335D	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	335					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCCAGCCCTGGCCCCCCCGGC	0.582000												
CCDC70	83446	broad.mit.edu	37	13	52439935	52439935	+	RNA	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:52439935G>A	uc010tgr.1	-	0		c.285C>T			CCDC70_uc001vfu.4_Missense_Mutation_p.A141T|CCDC70_uc021rjv.1_Missense_Mutation_p.A141T			Q6NSX1	CCD70_HUMAN	Synthetic construct Homo sapiens gateway clone IMAGE:100022601 3' read CCDC70 mRNA.							extracellular region|plasma membrane				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		AGAGGACAATGCCTTATGGGA	0.507000												
PLA2R1	22925	broad.mit.edu	37	2	160832609	160832609	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:160832609C>T	uc002ube.2	-	16	2777	c.2565G>A	c.(2563-2565)gaG>gaA	p.E855E	PLA2R1_uc010zcp.2_Silent_p.E855E|PLA2R1_uc002ubf.3_Silent_p.E855E	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA.	855	C-type lectin 5.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						TGAATTCTTGCTCATGTGCAG	0.423000												
EDEM3	80267	broad.mit.edu	37	1	184692925	184692925	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:184692925G>A	uc010pom.2	-	7	1074	c.813C>T	c.(811-813)ggC>ggT	p.G271G	EDEM3_uc010pok.2_Silent_p.G271G|EDEM3_uc010pol.2_Non-coding_Transcript|EDEM3_uc001gqy.3_Silent_p.G194G	NM_025191	NP_079467	Q9BZQ6	EDEM3_HUMAN	Homo sapiens ER degradation enhancer, mannosidase alpha-like 3 (EDEM3), mRNA.	271					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TTATAGTCACGCCCACTAAAT	0.323000												
ATP13A4	84239	broad.mit.edu	37	3	193180607	193180607	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:193180607G>A	uc003ftd.3	-	12	1575	c.1467C>T	c.(1465-1467)ggC>ggT	p.G489G	ATP13A4_uc003fte.1_Silent_p.G489G|ATP13A4_uc011bsr.1_5'UTR|ATP13A4_uc010hzi.3_Non-coding_Transcript|ATP13A4_uc003ftf.4_Silent_p.G195G	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.	489					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TTGTTAAGGTGCCTGTCTAAA	0.517000												
SV2A	9900	broad.mit.edu	37	1	149879659	149879659	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:149879659C>T	uc001etg.3	-	8	1970	c.1479G>A	c.(1477-1479)gaG>gaA	p.E493E	SV2A_uc009wlk.3_5'Flank|SV2A_uc001eth.2_Silent_p.E493E	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2A (SV2A), mRNA.	493				E -> G (in Ref. 4; CAD97824).	neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	AAGTTACATGCTCTACGCGCT	0.522000												
KRTAP5-6	440023	broad.mit.edu	37	11	1718528	1718528	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:1718528G>A	uc001lua.3	+	0	104	c.53G>A	c.(52-54)gGc>gAc	p.G18D	MOB2_uc001ltq.2_Intron	NM_001012416	NP_001012416	Q6L8G9	KRA56_HUMAN	Homo sapiens keratin associated protein 5-6 (KRTAP5-6), mRNA.	18						keratin filament				endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GGGGGCTGTGGCTCTGGCTGT	0.657000												
NCL	4691	broad.mit.edu	37	2	232324987	232324987	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:232324987C>T	uc002vru.3	-	5	1057	c.916G>A	c.(916-918)Gct>Act	p.A306T		NM_005381	NP_005372	P19338	NUCL_HUMAN	Homo sapiens nucleolin (NCL), mRNA.	306					angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	RNA binding|nucleotide binding|protein C-terminus binding|telomeric DNA binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		AGATTGAAAGCCGTAGTCGGT	0.363000												
KIAA1199	57214	broad.mit.edu	37	15	81213380	81213380	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:81213380T>C	uc002bfw.1	+	14	2271	c.2011T>C	c.(2011-2013)Tcc>Ccc	p.S671P	KIAA1199_uc010unn.1_Missense_Mutation_p.S671P	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	Homo sapiens KIAA1199 (KIAA1199), mRNA.	671										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CAGTGCTGTGTCCACCTTCTG	0.542000												
CRELD1	78987	broad.mit.edu	37	3	9982689	9982689	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:9982689G>A	uc003buf.3	+	5	715	c.616G>A	c.(616-618)Gcc>Acc	p.A206T	CIDEC_uc003bto.3_Intron|CRELD1_uc003buh.3_Missense_Mutation_p.A206T|CRELD1_uc003bug.3_Missense_Mutation_p.A206T	NM_001031717	NP_001026887	Q96HD1	CREL1_HUMAN	Homo sapiens cysteine-rich with EGF-like domains 1 (CRELD1), transcript variant 1, mRNA.	206					cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						AGAACGCAACGCCAGCCATCT	0.642000												
PLCB3	5331	broad.mit.edu	37	11	64023268	64023268	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:64023268G>A	uc009ypi.3	+	7	800	c.673G>A	c.(673-675)Gac>Aac	p.D225N	PLCB3_uc009ypg.2_Missense_Mutation_p.D225N|PLCB3_uc009yph.2_Missense_Mutation_p.D158N	NM_000932	NP_000923	Q01970	PLCB3_HUMAN	Homo sapiens phospholipase C, beta 3 (phosphatidylinositol-specific) (PLCB3), transcript variant 1, mRNA.	225					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						TCTGCGGCCGGACATTGACAA	0.557000												
GPR12	2835	broad.mit.edu	37	13	27333601	27333601	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:27333601C>T	uc021rhk.1	-	0	364	c.364G>A	c.(364-366)Gcc>Acc	p.A122T	GPR12_uc010aal.3_Missense_Mutation_p.A122T|GPR12_uc010tdl.2_Intron	NM_005288	NP_005279	P47775	GPR12_HUMAN	Homo sapiens G protein-coupled receptor 12 (GPR12), mRNA.	122						integral to plasma membrane				endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		GAGAAAGAGGCGACAATGAGG	0.542000												
ALPK2	115701	broad.mit.edu	37	18	56205101	56205101	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:56205101G>A	uc002lhj.4	-	4	2532	c.2318C>T	c.(2317-2319)gCt>gTt	p.A773V	ALPK2_uc002lhk.1_Missense_Mutation_p.A104V	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	773							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						AACAGAGACAGCCACAGGCTC	0.537000												
SEMA6D	80031	broad.mit.edu	37	15	48054484	48054484	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:48054484G>A	uc010bek.3	+	7	986	c.626G>A	c.(625-627)cGc>cAc	p.R209H	SEMA6D_uc001zvw.3_Missense_Mutation_p.R209H|SEMA6D_uc001zvx.1_Missense_Mutation_p.R209H|SEMA6D_uc001zvy.3_Missense_Mutation_p.R209H|SEMA6D_uc001zvz.3_Missense_Mutation_p.R209H|SEMA6D_uc001zwa.3_Missense_Mutation_p.R209H|SEMA6D_uc001zwb.3_Missense_Mutation_p.R209H|SEMA6D_uc001zwc.3_Missense_Mutation_p.R209H	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D (SEMA6D), transcript variant 4, mRNA.	209	Sema.				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TCTGCCCTTCGCACAATAAAA	0.498000												
CASC5	57082	broad.mit.edu	37	15	40937938	40937938	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:40937938G>A	uc010bbs.1	+	16	6213	c.6052G>A	c.(6052-6054)Gct>Act	p.A2018T	CASC5_uc010bbt.1_Missense_Mutation_p.A1992T	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	Homo sapiens cancer susceptibility candidate 5 (CASC5), transcript variant 1, mRNA.	2018	Necessary for kinetochore localization and for interaction with NSL1 and DSN1.				CenH3-containing nucleosome assembly at centromere|acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		AGGAAAAGTGGCTCTGTATGG	0.353000												
FAM167A	83648	broad.mit.edu	37	8	11301681	11301681	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:11301681C>T	uc010lry.1	-	1	860	c.240G>A	c.(238-240)gaG>gaA	p.E80E	FAM167A_uc003wtw.2_Silent_p.E80E	NM_053279	NP_444509	Q96KS9	F167A_HUMAN	Homo sapiens family with sequence similarity 167, member A (FAM167A), mRNA.	80										breast(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)	9						GGAGCAAGGGCTCCTGCCCCC	0.687000												
KIF4B	285643	broad.mit.edu	37	5	154393675	154393675	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:154393675G>A	uc010jih.1	+	0	416	c.256G>A	c.(256-258)Gcc>Acc	p.A86T		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	86	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AACGGTCCTGGCCTATGGGCA	0.453000												
ROCK1	6093	broad.mit.edu	37	18	18622132	18622132	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:18622132A>T	uc002kte.3	-	7	1826	c.885T>A	c.(883-885)aaT>aaA	p.N295K		NM_005406	NP_005397	Q13464	ROCK1_HUMAN	Homo sapiens Rho-associated, coiled-coil containing protein kinase 1 (ROCK1), mRNA.	295	Protein kinase.				Rho protein signal transduction|actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking	Golgi membrane|centriole|cytosol	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					AGGTAAGTGAATTTTTATGGT	0.299000												
FAT4	79633	broad.mit.edu	37	4	126411605	126411605	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:126411605C>A	uc003ifj.4	+	16	13628	c.13628C>A	c.(13627-13629)cCg>cAg	p.P4543Q	FAT4_uc011cgp.2_Missense_Mutation_p.P2784Q|FAT4_uc003ifi.1_Missense_Mutation_p.P2020Q	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4543					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GAGAAGAAACCGAAGGAGAAG	0.517000												
ZNF124	7678	broad.mit.edu	37	1	247320104	247320104	+	Missense_Mutation	SNP	C	C	T	rs139164874	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:247320104C>T	uc001ick.3	-	3	959	c.820G>A	c.(820-822)Gcc>Acc	p.A274T	ZNF124_uc001ici.3_Intron|ZNF124_uc001icj.1_Missense_Mutation_p.A212T	NM_003431	NP_003422	Q15973	ZN124_HUMAN	Homo sapiens zinc finger protein 124 (ZNF124), transcript variant 1, mRNA.	274					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			AGGGAACTGGCGTATCTGAAG	0.433000												
FRY	10129	broad.mit.edu	37	13	32747622	32747622	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:32747622G>A	uc001utx.3	+	18	2766	c.2270G>A	c.(2269-2271)cGc>cAc	p.R757H	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	757					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GTGGCCACACGCAAACTGTCC	0.468000												
AQR	9716	broad.mit.edu	37	15	35182477	35182477	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:35182477G>A	uc001ziv.3	-	23	2801	c.2620C>T	c.(2620-2622)Cgc>Tgc	p.R874C		NM_014691	NP_055506	O60306	AQR_HUMAN	Homo sapiens aquarius homolog (mouse) (AQR), mRNA.	874						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		AGTAGGTGGCGCTCATCAATG	0.433000												
MDN1	23195	broad.mit.edu	37	6	90499580	90499580	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:90499580C>T	uc003pnn.1	-	6	1265	c.1149G>A	c.(1147-1149)tgG>tgA	p.W383*	MDN1_uc003pnp.1_Nonsense_Mutation_p.W383*	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	383					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TGCCAGGCTGCCACACAAACT	0.483000												
RUNX1T1	862	broad.mit.edu	37	8	93017525	93017525	+	Splice_Site	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:93017525C>T	uc022axs.1	-	6	923	c.736_splice	c.e6-1	p.A246_splice	RUNX1T1_uc003yfc.2_Splice_Site_p.A160_splice|RUNX1T1_uc010mam.3_Splice_Site_p.A160_splice|RUNX1T1_uc003yfe.2_Splice_Site_p.A150_splice|RUNX1T1_uc003yfd.3_Splice_Site_p.A187_splice|RUNX1T1_uc022axo.1_Splice_Site_p.A187_splice|RUNX1T1_uc010mao.3_Splice_Site_p.A160_splice|RUNX1T1_uc011lgi.2_Splice_Site_p.A198_splice|RUNX1T1_uc022axp.1_Splice_Site_p.A187_splice|RUNX1T1_uc022axq.1_Splice_Site_p.A187_splice|RUNX1T1_uc022axr.1_Splice_Site_p.A187_splice|RUNX1T1_uc022axt.1_Splice_Site_p.A187_splice|RUNX1T1_uc022axu.1_Splice_Site_p.A167_splice|RUNX1T1_uc022axv.1_Splice_Site_p.A187_splice|RUNX1T1_uc003yfb.2_Splice_Site_p.A150_splice|RUNX1T1_uc003yff.1_Splice_Site_p.A150_splice	NM_001198679	NP_001185608	Q06455	MTG8_HUMAN	Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA.	187					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GGCAAGTTGGCCTGCAAGGGA	0.532000												
RIMKLB	57494	broad.mit.edu	37	12	8866509	8866509	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:8866509G>A	uc001qux.2	+	2	1309	c.47G>A	c.(46-48)cGc>cAc	p.R16H	RIMKLB_uc009zgf.2_Non-coding_Transcript|RIMKLB_uc010sgl.1_Missense_Mutation_p.R16H|RIMKLB_uc001quw.2_Missense_Mutation_p.R16H	NM_020734	NP_065785	Q9ULI2	RIMKB_HUMAN	Homo sapiens ribosomal modification protein rimK-like family member B (RIMKLB), mRNA.	16					protein modification process	cytoplasm	ATP binding|acid-amino acid ligase activity|metal ion binding			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						ACAGATCGTCGCATCAGGGAA	0.458000												
DOCK7	85440	broad.mit.edu	37	1	62993865	62993865	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:62993865A>G	uc001daq.3	-	30	3927	c.3893T>C	c.(3892-3894)gTc>gCc	p.V1298A	DOCK7_uc001dan.3_Missense_Mutation_p.V1159A|DOCK7_uc001dao.3_Missense_Mutation_p.V1159A|DOCK7_uc001dap.3_Missense_Mutation_p.V1267A|DOCK7_uc001dam.3_Missense_Mutation_p.V478A|DOCK7_uc010oov.1_Intron	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	Homo sapiens dedicator of cytokinesis 7 (DOCK7), mRNA.	1298					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|Rac GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						TAGTTGAGGGACCGATGTCCC	0.433000												
DNM2	1785	broad.mit.edu	37	19	10940929	10940929	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:10940929G>A	uc002mpt.2	+	19	2608	c.2418G>A	c.(2416-2418)gcG>gcA	p.A806A	DNM2_uc010dxk.2_Intron|DNM2_uc002mps.2_Silent_p.A806A|DNM2_uc010dxl.2_Silent_p.A806A|DNM2_uc002mpu.2_Silent_p.A802A|DNM2_uc002mpv.2_Silent_p.A802A|DNM2_uc002mpw.3_Silent_p.A535A|DNM2_uc002mpx.1_Silent_p.A162A	NM_001005360	NP_001005360	P50570	DYN2_HUMAN	Homo sapiens dynamin 2 (DNM2), transcript variant 1, mRNA.	806	Pro-rich.				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	Golgi membrane|cell junction|cytosol|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CCTTCTCGGCGCCCCCAATCC	0.697000			"""F, N, Splice, Mis, O"""		ETP ALL							
SF3A1	10291	broad.mit.edu	37	22	30730631	30730631	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:30730631G>A	uc003ahl.3	-	15	2466	c.2334C>T	c.(2332-2334)ggC>ggT	p.G778G	SF3A1_uc021wnt.1_Silent_p.G713G	NM_005877	NP_005868	Q15459	SF3A1_HUMAN	Homo sapiens splicing factor 3a, subunit 1, 120kDa (SF3A1), transcript variant 1, mRNA.	778	Ubiquitin-like.				nuclear mRNA 3'-splice site recognition	U2-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm	RNA binding|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						GGATGACTGCGCCATTGGCCA	0.542000												
ADCK1	57143	broad.mit.edu	37	14	78397931	78397931	+	Missense_Mutation	SNP	G	G	A	rs112630340		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:78397931G>A	uc001xui.3	+	9	1376	c.1277G>A	c.(1276-1278)cGc>cAc	p.R426H	ADCK1_uc001xuj.3_Missense_Mutation_p.R358H|ADCK1_uc001xul.3_Missense_Mutation_p.R133H	NM_020421	NP_065154	Q86TW2	ADCK1_HUMAN	Homo sapiens aarF domain containing kinase 1 (ADCK1), transcript variant 1, mRNA.	433	Protein kinase.					extracellular region	ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		CACGTGCCGCGCCAGATGCTG	0.592000												
PCDHGC5	56097	broad.mit.edu	37	5	140746261	140746261	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:140746261C>T	uc003lju.2	+	0	2364	c.2364C>T	c.(2362-2364)agC>agT	p.S788S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc011das.2_Silent_p.S788S	NM_018918	NP_061741	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 5 (PCDHGA5), transcript variant 1, mRNA.	798					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGAGAAAAGCGAGCCTCTTC	0.488000												
ATRNL1	26033	broad.mit.edu	37	10	117075167	117075167	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:117075167G>A	uc001lcg.3	+	17	3344	c.2958G>A	c.(2956-2958)atG>atA	p.M986I	ATRNL1_uc010qsm.2_Missense_Mutation_p.M161I|ATRNL1_uc010qsn.2_Non-coding_Transcript	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	Homo sapiens attractin-like 1 (ATRNL1), mRNA.	986	PSI 5.					integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TTATTGGAATGCACCACAGTG	0.433000												
RASGRF1	5923	broad.mit.edu	37	15	79382811	79382811	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:79382811G>A	uc002beq.3	-	0	405	c.30C>T	c.(28-30)ggC>ggT	p.G10G	RASGRF1_uc002bep.3_Silent_p.G10G|RASGRF1_uc002ber.4_Silent_p.G10G	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 1 (RASGRF1), transcript variant 1, mRNA.	10					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						ACGCGACGTGGCCATCATTCA	0.642000												
TADA2B	93624	broad.mit.edu	37	4	7056185	7056185	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:7056185G>A	uc003gjw.4	+	1	818	c.667G>A	c.(667-669)Gcc>Acc	p.A223T	TADA2B_uc010idi.3_Missense_Mutation_p.A148T|TADA2B_uc021xle.1_Missense_Mutation_p.A131T	NM_152293	NP_689506	Q86TJ2	TAD2B_HUMAN	Homo sapiens transcriptional adaptor 2B (TADA2B), mRNA.	223					regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|zinc ion binding			breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						GAAGAACATCGCCCGTGACTA	0.567000												
PPM1A	5494	broad.mit.edu	37	14	60756574	60756574	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:60756574C>T	uc001xew.4	+	3	1318	c.1222C>T	c.(1222-1224)Cgc>Tgc	p.R408C	PPM1A_uc010apn.3_Missense_Mutation_p.R335C|PPM1A_uc001xey.4_Missense_Mutation_p.R335C	NM_177952	NP_808821	P35813	PPM1A_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1A (PPM1A), transcript variant 3, mRNA.	335					Wnt receptor signaling pathway|cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein dephosphorylation	cytosol|nucleus|protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.046)		CCATGTGATGCGCACATTAGC	0.433000												
CHD3	1107	broad.mit.edu	37	17	7812021	7812021	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:7812021C>T	uc002gjd.2	+	35	5447	c.5445C>T	c.(5443-5445)ggC>ggT	p.G1815G	CHD3_uc002gje.2_Silent_p.G1756G|CHD3_uc002gjf.2_Silent_p.G1722G|CHD3_uc002gjh.2_Silent_p.G333G|CHD3_uc002gjj.2_5'Flank	NM_001005271	NP_001005271	Q12873	CHD3_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA.	1756	Required for interaction with PCNT.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GTAGCCATGGCTATGCACGGT	0.438000												
TNS1	7145	broad.mit.edu	37	2	218682847	218682847	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:218682847C>T	uc002vgt.2	-	23	4294	c.3896G>A	c.(3895-3897)aGc>aAc	p.S1299N	TNS1_uc002vgr.2_Missense_Mutation_p.S1286N|TNS1_uc002vgs.2_Missense_Mutation_p.S1278N|TNS1_uc010zjv.1_Missense_Mutation_p.S1278N	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	Homo sapiens tensin 1 (TNS1), mRNA.	1299						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		ACGGCCCAGGCTGGGGCTTCC	0.667000												
RFTN1	23180	broad.mit.edu	37	3	16358554	16358554	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:16358554C>A	uc003cay.3	-	9	1800	c.1518G>T	c.(1516-1518)gaG>gaT	p.E506D	RFTN1_uc010hes.3_Missense_Mutation_p.E470D|OXNAD1_uc003cax.3_Intron|OXNAD1_uc011awb.2_Intron	NM_015150	NP_055965	Q14699	RFTN1_HUMAN	Homo sapiens raftlin, lipid raft linker 1 (RFTN1), mRNA.	506						plasma membrane		p.S505S(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						CCTTCATCTCCTCGGAGACTC	0.552000												
MYL3	4634	broad.mit.edu	37	3	46904789	46904789	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:46904789C>T	uc003cql.1	-	0	185	c.92G>A	c.(91-93)cGc>cAc	p.R31H		NM_000258	NP_000249	P08590	MYL3_HUMAN	Homo sapiens myosin, light chain 3, alkali; ventricular, skeletal, slow (MYL3), mRNA.	31					cardiac muscle contraction|muscle filament sliding|positive regulation of ATPase activity|regulation of striated muscle contraction|regulation of the force of heart contraction|ventricular cardiac muscle tissue morphogenesis	A band|I band|cytosol|muscle myosin complex	actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle			breast(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(193;0.00116)|KIRC - Kidney renal clear cell carcinoma(197;0.00557)|Kidney(197;0.0063)		CTCCTTAGGGCGCTCAGGCTC	0.607000												
PIK3C3	5289	broad.mit.edu	37	18	39575890	39575890	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:39575890C>T	uc002lap.3	+	7	881	c.823C>T	c.(823-825)Cgg>Tgg	p.R275W	PIK3C3_uc010xcl.2_Missense_Mutation_p.R212W	NM_002647	NP_002638	Q8NEB9	PK3C3_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 3 (PIK3C3), mRNA.	275					cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding	p.R275R(2)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						CAAGCTTGCCCGGAGTTTAAG	0.333000										TSP Lung(28;0.18)		
SSR3	6747	broad.mit.edu	37	3	156272757	156272757	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:156272757G>A	uc011bop.2	-	0	217	c.122C>T	c.(121-123)gCc>gTc	p.A41V	SSR3_uc003fau.3_Missense_Mutation_p.A41V	NM_007107	NP_009038	Q9UNL2	SSRG_HUMAN	Homo sapiens signal sequence receptor, gamma (translocon-associated protein gamma) (SSR3), mRNA.	41					cotranslational protein targeting to membrane	Sec61 translocon complex|integral to endoplasmic reticulum membrane|microsome	protein binding|signal sequence binding			endometrium(1)|prostate(2)	3			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			GATGGGGATGGCAGACACGAT	0.652000												
SAMD9	54809	broad.mit.edu	37	7	92732197	92732197	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:92732197G>A	uc003umf.3	-	2	3484	c.3214C>T	c.(3214-3216)Ctt>Ttt	p.L1072F	SAMD9_uc003umg.3_Missense_Mutation_p.L1072F|SAMD9_uc022ahg.1_Missense_Mutation_p.L1072F	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	1072						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			ATACTTTCAAGCAATACAGCT	0.388000												
JAKMIP3	282973	broad.mit.edu	37	10	133930823	133930823	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:133930823C>T	uc001lkx.4	+	1	378	c.378C>T	c.(376-378)ggC>ggT	p.G126G		NM_001105521	NP_001098991			Homo sapiens Janus kinase and microtubule interacting protein 3 (JAKMIP3), mRNA.											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		TGCGTGATGGCGGCCCCGAAA	0.617000												
TOP3A	7156	broad.mit.edu	37	17	18205934	18205934	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:18205934G>A	uc002gsx.1	-	5	832	c.603C>T	c.(601-603)agC>agT	p.S201S	TOP3A_uc010vxr.1_5'Flank|TOP3A_uc002gsw.1_5'UTR|TOP3A_uc010vxs.1_Silent_p.S99S|TOP3A_uc010cqa.1_Non-coding_Transcript	NM_004618	NP_004609	Q13472	TOP3A_HUMAN	Homo sapiens topoisomerase (DNA) III alpha (TOP3A), mRNA.	201					DNA topological change|meiosis	PML body|chromosome	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						CCACAGCATCGCTCACCCTCT	0.547000												
FBXL12	54850	broad.mit.edu	37	19	9922250	9922250	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:9922250G>A	uc002mme.3	-	2	545	c.303C>T	c.(301-303)tgC>tgT	p.C101C	FBXL12_uc002mmd.3_Silent_p.C48C|FBXL12_uc002mmf.3_Silent_p.C48C|FBXL12_uc002mmg.3_Silent_p.C48C	NM_017703	NP_060173	Q9NXK8	FXL12_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 12 (FBXL12), mRNA.	101							protein binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(2)	10						TCAGGTTGGGGCACTTCTGGC	0.662000												
LIG3	3980	broad.mit.edu	37	17	33326437	33326437	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:33326437A>G	uc002hik.2	+	14	2354	c.2225A>G	c.(2224-2226)cAg>cGg	p.Q742R	LIG3_uc002hij.3_Missense_Mutation_p.Q742R	NM_013975	NP_039269	P49916	DNLI3_HUMAN	Homo sapiens ligase III, DNA, ATP-dependent (LIG3), nuclear gene encoding mitochondrial protein, transcript variant alpha, mRNA.	742					DNA ligation involved in DNA repair|DNA replication|base-excision repair|cell division|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	GCCCGCCTGCAGAATGAACTA	0.572000								Other BER factors				
PRDM9	56979	broad.mit.edu	37	5	23509190	23509190	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:23509190G>A	uc003jgo.3	+	1	230	c.48G>A	c.(46-48)gaG>gaA	p.E16E		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	16					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AAGACACAGAGAGAACAGAGC	0.567000										HNSCC(3;0.000094)		
SLC18A3	6572	broad.mit.edu	37	10	50819793	50819793	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:50819793T>C	uc001jhw.3	+	0	1447	c.1007T>C	c.(1006-1008)gTg>gCg	p.V336A	CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank|CHAT_uc010qgs.1_5'Flank	NM_003055	NP_003046	Q16572	VACHT_HUMAN	Homo sapiens solute carrier family 18 (vesicular acetylcholine), member 3 (SLC18A3), mRNA.	336					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						CCGGCCTTCGTGCCTCATGTG	0.667000												
SMTN	6525	broad.mit.edu	37	22	31484712	31484712	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:31484712C>T	uc003ajl.2	+	4	563	c.322C>T	c.(322-324)Cgc>Tgc	p.R108C	SMTN_uc003ajk.2_Missense_Mutation_p.R108C|SMTN_uc003ajm.2_Missense_Mutation_p.R108C|SMTN_uc011ale.2_Missense_Mutation_p.R162C|SMTN_uc011alf.2_Missense_Mutation_p.R164C|SMTN_uc003ajn.2_Missense_Mutation_p.R100C|SMTN_uc011alg.2_5'Flank	NM_006932	NP_008863	P53814	SMTN_HUMAN	Homo sapiens smoothelin (SMTN), transcript variant 3, mRNA.	108					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						GTATGAGGAGCGCAAGCTGAT	0.642000												
CNR1	1268	broad.mit.edu	37	6	88854156	88854156	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:88854156T>A	uc010kbz.3	-	1	968	c.838A>T	c.(838-840)Atc>Ttc	p.I280F	CNR1_uc011dzr.2_Missense_Mutation_p.I280F|CNR1_uc011dzs.2_Missense_Mutation_p.I280F|CNR1_uc003pmq.4_Missense_Mutation_p.I280F|CNR1_uc011dzt.2_Missense_Mutation_p.I280F|CNR1_uc010kca.3_Missense_Mutation_p.I247F|CNR1_uc021zco.1_Missense_Mutation_p.I280F	NM_016083	NP_057167	P21554	CNR1_HUMAN	Homo sapiens cannabinoid receptor 1 (brain) (CNR1), transcript variant 1, mRNA.	280					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	GTGACCCCGATCCAGAACATC	0.527000												
LRP11	84918	broad.mit.edu	37	6	150174287	150174287	+	Missense_Mutation	SNP	G	G	A	rs150922217	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:150174287G>A	uc003qng.2	-	1	947	c.623C>T	c.(622-624)gCg>gTg	p.A208V	LRP11_uc003qnh.1_Missense_Mutation_p.A208V	NM_032832	NP_116221	Q86VZ4	LRP11_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 11 (LRP11), mRNA.	208						integral to membrane	receptor activity			cervix(1)|kidney(5)|large_intestine(1)|lung(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)		AAGTGGAGGCGCATCCTTTTC	0.438000												
CHD1L	9557	broad.mit.edu	37	1	146756152	146756152	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:146756152T>C	uc001epm.4	+	15	1897	c.1834T>C	c.(1834-1836)Tca>Cca	p.S612P	CHD1L_uc001epn.4_Missense_Mutation_p.S499P|CHD1L_uc010ozo.2_Non-coding_Transcript|CHD1L_uc009wjg.3_Non-coding_Transcript|CHD1L_uc009wjh.3_Missense_Mutation_p.S518P|CHD1L_uc010ozp.2_Missense_Mutation_p.S331P|CHD1L_uc001epo.4_Missense_Mutation_p.S408P|CHD1L_uc010ozq.1_Missense_Mutation_p.S185P|CHD1L_uc009wji.3_Missense_Mutation_p.S331P	NM_004284	NP_004275	Q86WJ1	CHD1L_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 1-like (CHD1L), transcript variant 1, mRNA.	612					DNA repair|chromatin remodeling	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					AGAGGGCCGATCACTCCGAAA	0.353000												
SSTR1	6751	broad.mit.edu	37	14	38678974	38678974	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:38678974C>T	uc021rsi.1	+	0	380	c.380C>T	c.(379-381)gCg>gTg	p.A127V	SSTR1_uc001wul.1_Missense_Mutation_p.A127V	NM_001049	NP_001040	P30872	SSR1_HUMAN	Homo sapiens somatostatin receptor 1 (SSTR1), mRNA.	127					G-protein signaling, coupled to cyclic nucleotide second messenger|digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity	p.A127A(1)		breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	CCCTTCGGTGCGCTGCTCTGC	0.592000												
YWHAQ	10971	broad.mit.edu	37	2	9728312	9728312	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:9728312G>A	uc002qzx.3	-	3	683	c.564C>T	c.(562-564)gcC>gcT	p.A188A		NM_006826	NP_006817	P27348	1433T_HUMAN	Homo sapiens tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide (YWHAQ), mRNA.	188					negative regulation of transcription, DNA-dependent	centrosome|nucleus	protein N-terminus binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.241)		CCAGCGTGCAGGCAAGCTCTG	0.398000												
POTED	317754	broad.mit.edu	37	21	14982927	14982927	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr21:14982927C>T	uc002yjb.1	+	0	430	c.378C>T	c.(376-378)agC>agT	p.S126S		NM_174981	NP_778146	Q86YR6	POTED_HUMAN	Homo sapiens POTE ankyrin domain family, member D (POTED), mRNA.	126						plasma membrane				central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						ACGACCACAGCGCCTTCATGG	0.597000												
RGAG1	57529	broad.mit.edu	37	X	109696693	109696693	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:109696693T>C	uc004eor.2	+	2	3094	c.2848T>C	c.(2848-2850)Tcc>Ccc	p.S950P	RGAG1_uc011msr.1_Missense_Mutation_p.S950P	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	Homo sapiens retrotransposon gag domain containing 1 (RGAG1), mRNA.	950										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						TGGAGGGATGTCCAAGCCATT	0.512000												
GHSR	2693	broad.mit.edu	37	3	172166024	172166024	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:172166024G>A	uc003fib.2	-	0	223	c.180C>T	c.(178-180)ggC>ggT	p.G60G	GHSR_uc011bpv.2_Silent_p.G60G	NM_198407	NP_940799	Q92847	GHSR_HUMAN	Homo sapiens growth hormone secretagogue receptor (GHSR), transcript variant 1a, mRNA.	60					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			TGAGCAGGTTGCCAGCGATGC	0.662000												
PRPF19	27339	broad.mit.edu	37	11	60666093	60666093	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:60666093T>C	uc001nqf.3	-	12	1267	c.1060A>G	c.(1060-1062)Acc>Gcc	p.T354A		NM_014502	NP_055317	Q9UMS4	PRP19_HUMAN	Homo sapiens PRP19/PSO4 pre-mRNA processing factor 19 homolog (S. cerevisiae) (PRPF19), mRNA.	354					DNA repair|protein polyubiquitination|spliceosome assembly	catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex	DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	22						TGTGCACAGGTGAGAGCTGTG	0.532000												
LPHN1	22859	broad.mit.edu	37	19	14266322	14266322	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:14266322G>A	uc010xnn.2	-	18	3454	c.3158C>T	c.(3157-3159)gCc>gTc	p.A1053V	LPHN1_uc010xno.2_Missense_Mutation_p.A1048V|LOC100507373_uc002myf.3_Intron	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	Homo sapiens latrophilin 1 (LPHN1), transcript variant 1, mRNA.	1053					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CAGCGCGATGGCCCCCAGCGC	0.652000												
WDFY3	23001	broad.mit.edu	37	4	85715780	85715780	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:85715780G>A	uc003hpd.3	-	20	3787	c.3379C>T	c.(3379-3381)Cgc>Tgc	p.R1127C		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	1127						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TTTGCTCGGCGCACAACAGTA	0.448000												
TROAP	10024	broad.mit.edu	37	12	49719532	49719532	+	Silent	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:49719532T>C	uc009zlh.3	+	4	665	c.498T>C	c.(496-498)ggT>ggC	p.G166G	TROAP_uc001rtx.4_Silent_p.G166G	NM_005480	NP_005471	Q12815	TROAP_HUMAN	Homo sapiens trophinin associated protein (tastin) (TROAP), transcript variant 1, mRNA.	166					cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						TGTCCCAGGGTGTTCGGGCCT	0.627000												
RRP12	23223	broad.mit.edu	37	10	99120319	99120319	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:99120319T>C	uc001knf.3	-	30	3763	c.3624A>G	c.(3622-3624)atA>atG	p.I1208M	RRP12_uc001kne.3_Missense_Mutation_p.I223M|RRP12_uc009xvl.3_Missense_Mutation_p.I325M|RRP12_uc009xvm.3_Missense_Mutation_p.I926M|RRP12_uc010qou.2_Missense_Mutation_p.I1147M|RRP12_uc009xvn.3_Missense_Mutation_p.I1108M	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN	Homo sapiens ribosomal RNA processing 12 homolog (S. cerevisiae) (RRP12), transcript variant 1, mRNA.	1208						integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		ACTGAGGGGGTATCTCCAGCT	0.552000												
CLCA2	9635	broad.mit.edu	37	1	86900199	86900199	+	Splice_Site	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:86900199A>G	uc001dlr.4	+	6	907	c.745_splice	c.e6-2	p.V249_splice		NM_006536	NP_006527	Q9UQC9	CLCA2_HUMAN	Homo sapiens chloride channel accessory 2 (CLCA2), mRNA.	249					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		TTTTATTTCCAGGTGGTTGAA	0.398000												
C6orf165	154313	broad.mit.edu	37	6	88128088	88128088	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:88128088C>T	uc003plv.3	+	6	917	c.794C>T	c.(793-795)gCg>gTg	p.A265V	C6orf165_uc003plu.2_Missense_Mutation_p.A265V|C6orf165_uc003plw.3_Missense_Mutation_p.A77V|C6orf165_uc010kbv.2_Non-coding_Transcript	NM_001031743	NP_001026913	Q8IYR0	CF165_HUMAN	Homo sapiens chromosome 6 open reading frame 165 (C6orf165), mRNA.	265										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		TTAAAAGAAGCGCTATATAAT	0.418000												
RELN	5649	broad.mit.edu	37	7	103629618	103629618	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:103629618C>T	uc022ajr.1	-	0	346	c.186G>A	c.(184-186)gcG>gcA	p.A62A	RELN_uc022ajq.1_Silent_p.A62A|RELN_uc010liz.3_Silent_p.A62A	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	62	Reelin.				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TGGGGTTGCCCGCAATATGCA	0.637000												
CFHR1	3078	broad.mit.edu	37	1	196801062	196801062	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:196801062G>A	uc001gtn.3	+	5	1040	c.926G>A	c.(925-927)cGt>cAt	p.R309H	CFH_uc021pgt.1_Intron|CFHR1_uc001gtm.3_Missense_Mutation_p.R213H	NM_002113	NP_002104	Q03591	FHR1_HUMAN	Homo sapiens complement factor H-related 1 (CFHR1), mRNA.	309	Sushi 5.				complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						CTTTCATCACGTTCTCACACA	0.383000												
ABCC11	85320	broad.mit.edu	37	16	48250120	48250120	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:48250120C>T	uc002eff.1	-	5	1206	c.856G>A	c.(856-858)Gca>Aca	p.A286T	ABCC11_uc002efg.1_Missense_Mutation_p.A286T|ABCC11_uc002efh.1_Missense_Mutation_p.A286T|ABCC11_uc010vgk.1_5'Flank|ABCC11_uc010vgl.1_Missense_Mutation_p.A286T	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 11 (ABCC11), transcript variant 2, mRNA.	286	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				ACCAGCGATGCGCAGGTGATC	0.473000												
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:25398284C>T	uc001rgp.1	-	1	216	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.3_Non-coding_Transcript|DD157417_uc021qwd.1_Non-coding_Transcript	NM_033360	NP_203524	P01116	RASK_HUMAN	Homo sapiens v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog (KRAS), transcript variant a, mRNA.	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(17126)|p.G12V(11533)|p.G12C(2976)|p.G12A(2808)|p.G12S(1288)|p.G12R(790)|p.G12F(96)|p.G12?(57)|p.G12L(17)|p.G12G(9)|p.G12I(8)|p.G12N(7)|p.G12W(7)|p.G12E(6)|p.G10_A11insG(5)|p.G12_G13insG(4)|p.G12Y(4)|p.A11V(3)|p.A11P(2)|p.A11_G12insGA(2)|p.G12fs*3(2)|p.A11A(1)|p.G12_G13insA(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)		
PCYOX1L	78991	broad.mit.edu	37	5	148747580	148747580	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:148747580C>T	uc003lqk.2	+	5	910	c.848C>T	c.(847-849)gCg>gTg	p.A283V	PCYOX1L_uc003lql.2_Missense_Mutation_p.A266V|PCYOX1L_uc010jgz.2_Missense_Mutation_p.A207V|PCYOX1L_uc003lqm.2_Missense_Mutation_p.A165V|PCYOX1L_uc003lqn.2_Missense_Mutation_p.A193V	NM_024028	NP_076933	Q8NBM8	PCYXL_HUMAN	Homo sapiens prenylcysteine oxidase 1 like (PCYOX1L), mRNA.	283					prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACCAGGTGGCGTATGAGAAT	0.522000											OREG0016912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
MLST8	64223	broad.mit.edu	37	16	2258304	2258304	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:2258304G>A	uc002coy.3	+	6	1058	c.667G>A	c.(667-669)Gcc>Acc	p.A223T	MLST8_uc002cpc.3_Missense_Mutation_p.A223T|MLST8_uc010uvx.2_Missense_Mutation_p.A157T|MLST8_uc002cpd.3_Missense_Mutation_p.A157T|MLST8_uc002cpb.3_Missense_Mutation_p.A222T|MLST8_uc002coz.3_Missense_Mutation_p.A223T|MLST8_uc002cpe.3_Missense_Mutation_p.A223T|MLST8_uc002cpf.3_Missense_Mutation_p.A223T|MLST8_uc002cph.3_Intron	NM_022372	NP_071767	Q9BVC4	LST8_HUMAN	Homo sapiens MTOR associated protein, LST8 homolog (S. cerevisiae) (MLST8), transcript variant 1, mRNA.	223					T cell costimulation|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade	cytosol	protein binding			large_intestine(3)|lung(2)|skin(1)	6						CACGCGCTACGCCCTGCAGTG	0.667000												
HOXC5	3222	broad.mit.edu	37	12	54428168	54428168	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:54428168G>T	uc001sew.3	+	1	636	c.561G>T	c.(559-561)gaG>gaT	p.E187D	HOXC5_uc001set.3_Non-coding_Transcript|HOXC4_uc001seu.3_Intron	NM_018953	NP_061826	Q00444	HXC5_HUMAN	Homo sapiens homeobox C5 (HOXC5), transcript variant 1, mRNA.	187					regulation of transcription from RNA polymerase II promoter	cell junction|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(2)|urinary_tract(1)	12						GGCGCATAGAGATCGCCAACA	0.498000												
OR52H1	390067	broad.mit.edu	37	11	5566215	5566215	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:5566215C>T	uc010qzh.2	-	0	539	c.539G>A	c.(538-540)cGc>cAc	p.R180H	HBG1_uc001mak.1_Intron	NM_001005289	NP_001005289	Q8NGJ2	O52H1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily H, member 1 (OR52H1), mRNA.	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGTATGATGCGTGTCCTGCA	0.488000												
RIMS1	22999	broad.mit.edu	37	6	73016981	73016981	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:73016981C>T	uc003pga.3	+	26	3948	c.3871C>T	c.(3871-3873)Cga>Tga	p.R1291*	RIMS1_uc011dyb.2_Nonsense_Mutation_p.R688*|RIMS1_uc003pgc.3_Nonsense_Mutation_p.R740*|RIMS1_uc010kaq.3_Nonsense_Mutation_p.R611*|RIMS1_uc011dyc.2_Intron|RIMS1_uc010kar.3_Intron|RIMS1_uc011dyd.2_Intron|RIMS1_uc003pge.3_Nonsense_Mutation_p.R331*|RIMS1_uc003pgf.3_Nonsense_Mutation_p.R300*|RIMS1_uc003pgi.3_Intron|RIMS1_uc003pgg.3_Intron|RIMS1_uc003pgh.3_Intron|RIMS1_uc003pgd.3_Nonsense_Mutation_p.R357*|RIMS1_uc011dye.2_Nonsense_Mutation_p.R97*|RIMS1_uc011dyf.2_Intron	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	1291					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				AGTGGAGGAGCGAACAAGACA	0.383000												
LOXL4	84171	broad.mit.edu	37	10	100021879	100021879	+	Silent	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:100021879A>G	uc001kpa.1	-	2	520	c.369T>C	c.(367-369)agT>agC	p.S123S		NM_032211	NP_115587	Q96JB6	LOXL4_HUMAN	Homo sapiens lysyl oxidase-like 4 (LOXL4), mRNA.	123	SRCR 1.					extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		CTTCTGAGTGACTGCAGTCAC	0.597000												
MRPL4	51073	broad.mit.edu	37	19	10370451	10370451	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:10370451G>A	uc002mnm.3	+	9	1052	c.898G>A	c.(898-900)Gct>Act	p.A300T	MRPL4_uc002mnn.3_Missense_Mutation_p.A300T|MRPL4_uc002mno.3_3'UTR	NM_146387	NP_666499	Q9BYD3	RM04_HUMAN	Homo sapiens mitochondrial ribosomal protein L4 (MRPL4), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	300					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11		Renal(1328;0.0112)	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06)	Lung(535;0.00705)		CCTACCCCACGCTACCCAGGG	0.662000												
FLG2	388698	broad.mit.edu	37	1	152327382	152327382	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:152327382G>A	uc001ezw.4	-	2	2953	c.2880C>T	c.(2878-2880)ggC>ggT	p.G960G	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	960	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTTGGCCAAAGCCAGAGGATT	0.502000												
LIPT1	51601	broad.mit.edu	37	2	99778541	99778541	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:99778541G>A	uc002szp.4	+	2	282	c.244G>A	c.(244-246)Gtc>Atc	p.V82I	MRPL30_uc002szl.1_Intron|LIPT1_uc002szm.4_Missense_Mutation_p.V41I|LIPT1_uc002szn.4_Missense_Mutation_p.V41I|LIPT1_uc002szo.4_Missense_Mutation_p.V41I|LIPT1_uc002szq.4_Missense_Mutation_p.V41I|MRPL30_uc002szr.3_Intron|LIPT1_uc021vln.1_Missense_Mutation_p.V41I|LIPT1_uc021vlo.1_Missense_Mutation_p.V41I|LIPT1_uc021vlp.1_Missense_Mutation_p.V41I	NM_145199	NP_660200	Q9Y234	LIPT_HUMAN	Homo sapiens lipoyltransferase 1 (LIPT1), nuclear gene encoding mitochondrial protein, transcript variant 5, mRNA.	41					lipid metabolic process|protein lipoylation	mitochondrion	acyltransferase activity			large_intestine(6)|lung(1)	7					Lipoic Acid(DB00166)	TTCCAATGATGTCTATCAAAA	0.388000												
SERPINA11	256394	broad.mit.edu	37	14	94914995	94914995	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:94914995C>T	uc001ydd.1	-	1	177	c.117G>A	c.(115-117)caG>caA	p.Q39Q		NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 (SERPINA11), mRNA.	39					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		GCTCTGAGAGCTGATGCCTGG	0.562000												
PLOD1	5351	broad.mit.edu	37	1	12024350	12024350	+	Missense_Mutation	SNP	C	C	T	rs11553676		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:12024350C>T	uc010obb.2	+	12	1575	c.1462C>T	c.(1462-1464)Cgg>Tgg	p.R488W	PLOD1_uc001atm.3_Missense_Mutation_p.R441W	NM_000302	NP_000293	Q02809	PLOD1_HUMAN	Homo sapiens procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 (PLOD1), mRNA.	441					epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	TGTGCAGGGGCGGCGTGTGTG	0.612000												
DTNBP1	84062	broad.mit.edu	37	6	15627674	15627674	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:15627674C>T	uc003nbm.3	-	4	444	c.255G>A	c.(253-255)gcG>gcA	p.A85A	DTNBP1_uc003nbl.3_Silent_p.A4A|DTNBP1_uc010jph.3_Silent_p.A72A|DTNBP1_uc003nbp.3_Silent_p.A85A	NM_032122	NP_115498	Q96EV8	DTBP1_HUMAN	Homo sapiens dystrobrevin binding protein 1 (DTNBP1), transcript variant 1, mRNA.	85					actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway	BLOC-1 complex|axon part|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome	identical protein binding	p.S84C(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	14	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			TCTCCCAGTGCGCAGAAAGCA	0.493000									Hermansky-Pudlak syndrome			
IGSF3	3321	broad.mit.edu	37	1	117156493	117156493	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:117156493G>A	uc001egq.1	-	3	1431	c.726C>T	c.(724-726)ggC>ggT	p.G242G	IGSF3_uc001egr.1_Silent_p.G242G	NM_001542	NP_001533	O75054	IGSF3_HUMAN	Homo sapiens immunoglobulin superfamily, member 3 (IGSF3), transcript variant 1, mRNA.	242	Ig-like C2-type 2.					integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		AGTAGAATTCGCCCTGGTCAG	0.627000												
POTEE	445582	broad.mit.edu	37	2	131976329	131976329	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:131976329C>T	uc002tsn.2	+	0	406	c.354C>T	c.(352-354)ggC>ggT	p.G118G	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	118							ATP binding										GCAAGGTGGGCGCTTGGGGAG	0.597000												
NODAL	4838	broad.mit.edu	37	10	72195099	72195099	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:72195099G>A	uc001jrc.2	-	1	876	c.834C>T	c.(832-834)ggC>ggT	p.G278G		NM_018055	NP_060525	Q96S42	NODAL_HUMAN	Homo sapiens nodal homolog (mouse) (NODAL), mRNA.	278					growth	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	15						TAGGACACTCGCCCTCACAGC	0.572000												
TMEM45B	120224	broad.mit.edu	37	11	129722528	129722528	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:129722528G>A	uc001qfe.1	+	1	212	c.151G>A	c.(151-153)Gca>Aca	p.A51T	TMEM45B_uc001qff.1_Missense_Mutation_p.A51T	NM_138788	NP_620143	Q96B21	TM45B_HUMAN	Homo sapiens transmembrane protein 45B (TMEM45B), mRNA.	51						integral to membrane		p.A51A(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189)		CGTCGAAGCCGCAATTAGGAC	0.488000												
PCDHGC5	56097	broad.mit.edu	37	5	140793053	140793053	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:140793053C>T	uc003lkl.2	+	0	311	c.311C>T	c.(310-312)gCg>gTg	p.A104V	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc011day.2_Missense_Mutation_p.A104V	NM_018913	NP_061736	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 10 (PCDHGA10), transcript variant 1, mRNA.	100	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A104V(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCAGAGCGCGCGGTGCGTG	0.517000												
PHF8	23133	broad.mit.edu	37	X	54014219	54014219	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:54014219G>A	uc004dsu.3	-	14	2243	c.1997C>T	c.(1996-1998)gCg>gTg	p.A666V	PHF8_uc004dsv.3_Missense_Mutation_p.A496V|PHF8_uc004dst.3_Missense_Mutation_p.A630V|PHF8_uc004dsw.3_Missense_Mutation_p.A529V|PHF8_uc004dsx.3_Missense_Mutation_p.A394V|PHF8_uc004dsy.3_Missense_Mutation_p.A630V	NM_001184896	NP_055922	Q9UPP1	PHF8_HUMAN	Homo sapiens PHD finger protein 8 (PHF8), transcript variant 1, mRNA.	666					G1/S transition of mitotic cell cycle|brain development|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						TATCAGGGTCGCCTTCTCCTT	0.453000												
ZNF485	220992	broad.mit.edu	37	10	44111987	44111987	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:44111987G>A	uc010qfc.2	+	4	690	c.496G>A	c.(496-498)Gcc>Acc	p.A166T	ZNF485_uc010qfd.2_Missense_Mutation_p.A75T	NM_145312	NP_660355	Q8NCK3	ZN485_HUMAN	Homo sapiens zinc finger protein 485 (ZNF485), mRNA.	166					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						ATGTGGGATCGCCTTTATGAA	0.398000												
ZC3H12C	85463	broad.mit.edu	37	11	110035979	110035979	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:110035979C>T	uc010rwc.2	+	5	2172	c.2172C>T	c.(2170-2172)ggC>ggT	p.G724G	ZC3H12C_uc009yxw.3_Silent_p.G723G|ZC3H12C_uc010rwd.2_Silent_p.G724G|ZC3H12C_uc001pkr.4_Silent_p.G692G	NM_033390	NP_203748	Q9C0D7	ZC12C_HUMAN	Homo sapiens zinc finger CCCH-type containing 12C (ZC3H12C), mRNA.	723							endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		GCTGTCCTGGCGACTACCCCT	0.587000												
TRIP12	9320	broad.mit.edu	37	2	230643195	230643195	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:230643195C>T	uc002vpx.1	-	35	5346	c.5237G>A	c.(5236-5238)cGc>cAc	p.R1746H	TRIP12_uc021vxw.1_Missense_Mutation_p.R1731H|TRIP12_uc002vpy.1_Missense_Mutation_p.R1428H|TRIP12_uc002vpw.1_Missense_Mutation_p.R1698H	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), mRNA.	1698					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TCCTAAGAAGCGAAACTTCAT	0.423000												
UGT2B4	7363	broad.mit.edu	37	4	70351060	70351060	+	Silent	SNP	G	G	A	rs138447267	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:70351060G>A	uc003hek.4	-	4	1223	c.1176C>T	c.(1174-1176)ggC>ggT	p.G392G	UGT2B4_uc011cap.2_Silent_p.G256G|UGT2B4_uc003hel.4_Intron	NM_021139	NP_066962	P06133	UD2B4_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.	392					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						ACAATGGAACGCCCACCATAG	0.458000												
LAMB1	3912	broad.mit.edu	37	7	107605020	107605020	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:107605020C>A	uc003vev.2	-	11	1908	c.1747G>T	c.(1747-1749)Gcg>Tcg	p.A583S	LAMB1_uc003vew.2_Missense_Mutation_p.A559S|LAMB1_uc003vex.3_Missense_Mutation_p.A559S|LAMB1_uc010ljn.1_Missense_Mutation_p.A645S	NM_002291	NP_002282	P07942	LAMB1_HUMAN	Homo sapiens laminin, beta 1 (LAMB1), mRNA.	559	Laminin IV type B.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCTTCCTCCGCTTCATAGAGG	0.532000												
NAP1L3	4675	broad.mit.edu	37	X	92927519	92927519	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:92927519T>C	uc004efq.3	-	0	1164	c.785A>G	c.(784-786)gAt>gGt	p.D262G	FAM133A_uc022bzw.1_5'Flank|FAM133A_uc022bzu.1_5'Flank|FAM133A_uc004efr.2_5'Flank|FAM133A_uc022bzv.1_5'Flank	NM_004538	NP_004529	Q99457	NP1L3_HUMAN	Homo sapiens nucleosome assembly protein 1-like 3 (NAP1L3), mRNA.	262					nucleosome assembly	chromatin assembly complex				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						CTGTTCTTTATCATCTGCCTT	0.443000												
CDH9	1007	broad.mit.edu	37	5	26885767	26885767	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:26885767G>A	uc003jgs.1	-	10	2007	c.1838C>T	c.(1837-1839)aCg>aTg	p.T613M	CDH9_uc011cnv.1_Missense_Mutation_p.T206M	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	613					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T613T(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GAGAGCTCCCGTGCTCAGGCC	0.507000												
DCHS1	8642	broad.mit.edu	37	11	6654194	6654194	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:6654194C>T	uc001mem.1	-	5	2950	c.2549G>A	c.(2548-2550)cGc>cAc	p.R850H		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	850	Cadherin 8.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTCCAGAGGGCGAAGTGTTTG	0.612000												
ITPR3	3710	broad.mit.edu	37	6	33646527	33646527	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:33646527C>T	uc021ywr.1	+	29	4107	c.3883C>T	c.(3883-3885)Cgc>Tgc	p.R1295C		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA.	1295					G-protein coupled receptor protein signaling pathway|activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						CACGCACGGGCGCCATGTGCA	0.577000												
PCDH7	5099	broad.mit.edu	37	4	30724207	30724207	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:30724207G>A	uc003gsk.1	+	0	2171	c.1163G>A	c.(1162-1164)cGc>cAc	p.R388H	PCDH7_uc011bxx.2_Missense_Mutation_p.R388H|PCDH7_uc021xnd.1_Missense_Mutation_p.R388H|PCDH7_uc021xnc.1_Missense_Mutation_p.R388H	NM_002589	NP_002580	O60245	PCDH7_HUMAN	Homo sapiens protocadherin 7 (PCDH7), transcript variant a, mRNA.	388	Cadherin 3.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.E387K(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GTCATGGCCCGCGACCGCGGG	0.642000												
TTN	7273	broad.mit.edu	37	2	179640598	179640598	+	Missense_Mutation	SNP	C	C	T	rs144135510	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:179640598C>T	uc021vsy.1	-	27	6218	c.5993G>A	c.(5992-5994)cGc>cAc	p.R1998H	TTN_uc021vsz.1_Missense_Mutation_p.R1952H|TTN_uc021vta.1_Missense_Mutation_p.R1952H|TTN_uc021vtb.1_Missense_Mutation_p.R1952H|TTN_uc002unb.2_Missense_Mutation_p.R1998H|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1998			R -> H.				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)			GAATTTACTGCGCAGCTCTTC	0.453000												
ANK2	287	broad.mit.edu	37	4	114278954	114278954	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:114278954A>C	uc003ibe.4	+	37	9280	c.9180A>C	c.(9178-9180)aaA>aaC	p.K3060N	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.K3075N	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	3027					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CTCGTGTGAAAGAGGAAGAAC	0.458000												
AKAP9	10142	broad.mit.edu	37	7	91737871	91737871	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:91737871C>T	uc003ulg.3	+	48	11835	c.11610C>T	c.(11608-11610)taC>taT	p.Y3870Y	AKAP9_uc003ulf.3_Silent_p.Y3862Y|AKAP9_uc003uli.3_Silent_p.Y3493Y|AKAP9_uc003ulj.3_Silent_p.Y1640Y|AKAP9_uc003ull.3_Silent_p.Y766Y	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	3874					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TTCAGAATTACGATCCTGACA	0.418000			T	BRAF	papillary thyroid							
TNFRSF11A	8792	broad.mit.edu	37	18	60036437	60036437	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:60036437C>T	uc002lin.3	+	8	1325	c.1287C>T	c.(1285-1287)ggC>ggT	p.G429G	TNFRSF11A_uc010dpv.3_Intron	NM_003839	NP_003830	Q9Y6Q6	TNR11_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 11a, NFKB activator (TNFRSF11A), mRNA.	429					adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of cell proliferation|positive regulation of fever generation by positive regulation of prostaglandin secretion|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				TGGACAGTGGCCATTGCCCGC	0.597000												
SLC26A4	5172	broad.mit.edu	37	7	107323732	107323732	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:107323732C>T	uc003vep.3	+	6	1075	c.851C>T	c.(850-852)gCa>gTa	p.A284V		NM_000441	NP_000432	O43511	S26A4_HUMAN	Homo sapiens solute carrier family 26, member 4 (SLC26A4), mRNA.	284					regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						GTCTGTATGGCAGTTAAGGAA	0.353000									Pendred syndrome			
MRPS22	56945	broad.mit.edu	37	3	139074577	139074577	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:139074577G>A	uc003etb.3	+	6	1003	c.932G>A	c.(931-933)gGc>gAc	p.G311D	MRPS22_uc003etc.3_Non-coding_Transcript	NM_020191	NP_064576	P82650	RT22_HUMAN	Homo sapiens mitochondrial ribosomal protein S22 (MRPS22), nuclear gene encoding mitochondrial protein, mRNA.	311						mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12						CATCCAGATGGCCAGTCGGCT	0.418000												
SMAD4	4089	broad.mit.edu	37	18	48593465	48593465	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:48593465G>A	uc010xdp.2	+	9	1754	c.1216G>A	c.(1216-1218)Gcg>Acg	p.A406T	SMAD4_uc002lfb.4_Missense_Mutation_p.A251T	NM_005359	NP_005350	Q13485	SMAD4_HUMAN	Homo sapiens SMAD family member 4 (SMAD4), mRNA.	406	MH2.				BMP signaling pathway|SMAD protein complex assembly|SMAD protein signal transduction|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of SMAD protein import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|R-SMAD binding|protein homodimerization activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.A406T(4)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TAGTGACCACGCGGTCTTTGT	0.433000												
OPA1	4976	broad.mit.edu	37	3	193343987	193343987	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:193343987G>A	uc003ftg.3	+	6	1019	c.785G>A	c.(784-786)cGc>cAc	p.R262H	OPA1_uc003fth.3_Missense_Mutation_p.R226H|OPA1_uc003fti.3_Missense_Mutation_p.R244H|OPA1_uc003ftj.3_Intron|OPA1_uc003ftk.3_Missense_Mutation_p.R208H|OPA1_uc003ftl.3_Intron|OPA1_uc003ftm.3_Intron|OPA1_uc003ftn.3_Intron	NM_130837	NP_570850	O60313	OPA1_HUMAN	Homo sapiens optic atrophy 1 (autosomal dominant) (OPA1), nuclear gene encoding mitochondrial protein, transcript variant 8, mRNA.	207					apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		CAACAGAAGCGCAAGGTGATG	0.473000												
INPP5D	3635	broad.mit.edu	37	2	234102498	234102498	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:234102498G>A	uc010zmo.2	+	21	2553	c.2400G>A	c.(2398-2400)acG>acA	p.T800T	INPP5D_uc010zmp.2_Silent_p.T799T	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.	829					T cell receptor signaling pathway|apoptosis|blood coagulation|leukocyte migration	cytosol	SH3 domain binding|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		CCACAGAAACGCAGCTGCCCA	0.592000												
HPX	3263	broad.mit.edu	37	11	6452540	6452540	+	Silent	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:6452540A>G	uc001mdg.2	-	9	1351	c.1290T>C	c.(1288-1290)ggT>ggC	p.G430G	HPX_uc009yfc.2_Non-coding_Transcript	NM_000613	NP_000604	P02790	HEMO_HUMAN	Homo sapiens hemopexin (HPX), mRNA.	430					cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		ACAAATTGGGACCATGGATGA	0.542000												
WWP1	11059	broad.mit.edu	37	8	87393781	87393781	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:87393781G>A	uc003ydt.3	+	4	537	c.257G>A	c.(256-258)cGc>cAc	p.R86H	WWP1_uc010mai.3_5'UTR	NM_007013	NP_008944	Q9H0M0	WWP1_HUMAN	Homo sapiens WW domain containing E3 ubiquitin protein ligase 1 (WWP1), mRNA.	86	C2.				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	p.R86H(2)		endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						TGGAGCCATCGCACTTTAAAA	0.338000												
HACE1	57531	broad.mit.edu	37	6	105244857	105244857	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:105244857C>T	uc003pqu.1	-	7	938	c.661G>A	c.(661-663)Gcc>Acc	p.A221T	HACE1_uc010kcy.1_5'UTR|HACE1_uc010kcz.1_Missense_Mutation_p.A221T	NM_020771	NP_065822	Q8IYU2	HACE1_HUMAN	Homo sapiens HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1 (HACE1), mRNA.	221					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		AGATATTTGGCTCCTCGTAAT	0.338000												
CCT6B	10693	broad.mit.edu	37	17	33259515	33259515	+	Silent	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:33259515A>G	uc002hig.3	-	10	1334	c.1218T>C	c.(1216-1218)tgT>tgC	p.C406C	CCT6B_uc010ctg.3_Silent_p.C369C|CCT6B_uc010wcc.2_Silent_p.C361C	NM_006584	NP_006575	Q92526	TCPW_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 6B (zeta 2) (CCT6B), transcript variant 1, mRNA.	406					chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				CAGGAACCATACAACCTATTG	0.388000												
RAP1GAP2	23108	broad.mit.edu	37	17	2898752	2898752	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:2898752G>A	uc010ckd.3	+	12	1126	c.1036G>A	c.(1036-1038)Gcc>Acc	p.A346T	RAP1GAP2_uc010cke.3_Missense_Mutation_p.A331T	NM_015085	NP_055900	Q684P5	RPGP2_HUMAN	Homo sapiens RAP1 GTPase activating protein 2 (RAP1GAP2), transcript variant 1, mRNA.	346	Rap-GAP.				regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						CGACGGAGACGCCCAGCAGGT	0.607000												
SLC25A6	293	broad.mit.edu	37	X	1505554	1505554	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:1505554G>A	uc004cpt.3	-	3	975	c.838C>T	c.(838-840)Cgg>Tgg	p.R280W	CRLF2_uc022brt.1_Intron	NM_001636	NP_001627	P12236	ADT3_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6 (SLC25A6), nuclear gene encoding mitochondrial protein, mRNA.	280					active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding	p.R280L(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	CCCATGCCCCGCAGGACGTTG	0.607000												
LRP1B	53353	broad.mit.edu	37	2	141259398	141259398	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:141259398C>T	uc002tvj.1	-	54	9680	c.8708G>A	c.(8707-8709)tGc>tAc	p.C2903Y		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	2903	LDL-receptor class A 20.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACTGGGAATGCACCTGCCATT	0.373000										TSP Lung(27;0.18)		
EPHA3	2042	broad.mit.edu	37	3	89259600	89259600	+	Silent	SNP	C	C	T	rs150099876	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:89259600C>T	uc003dqy.3	+	2	969	c.744C>T	c.(742-744)ggC>ggT	p.G248G	EPHA3_uc003dqx.1_Silent_p.G248G|EPHA3_uc021xbf.1_Silent_p.G248G	NM_005233	NP_005224	P29320	EPHA3_HUMAN	Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA.	248	Cys-rich.					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)		GTACAGAAGGCGAATGGCTTG	0.478000										TSP Lung(6;0.00050)		
PCDH18	54510	broad.mit.edu	37	4	138452423	138452423	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:138452423C>T	uc003ihe.4	-	0	1207	c.820G>A	c.(820-822)Gat>Aat	p.D274N	PCDH18_uc003ihf.4_Missense_Mutation_p.D267N|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Missense_Mutation_p.D54N|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	274	Cadherin 3.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GCGCCCTCATCTGGATCCGTG	0.408000												
METAP1	23173	broad.mit.edu	37	4	99960602	99960602	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:99960602C>T	uc003huf.4	+	4	535	c.418C>T	c.(418-420)Cga>Tga	p.R140*	METAP1_uc003hug.3_Non-coding_Transcript	NM_015143	NP_055958	P53582	AMPM1_HUMAN	Homo sapiens methionyl aminopeptidase 1 (METAP1), mRNA.	140					N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis|regulation of translation	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity|protein binding	p.M139I(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(123;3.12e-07)		AGAAGGGATGCGACTTGTATG	0.363000												
SLC25A38	54977	broad.mit.edu	37	3	39437962	39437962	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:39437962C>T	uc003cjo.2	+	6	1267	c.866C>T	c.(865-867)gCg>gTg	p.A289V		NM_017875	NP_060345	Q96DW6	S2538_HUMAN	Homo sapiens solute carrier family 25, member 38 (SLC25A38), nuclear gene encoding mitochondrial protein, mRNA.	289					erythrocyte differentiation|heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GCAGCAATGGCGTGGACGGTG	0.527000												
C3orf15	89876	broad.mit.edu	37	3	119434422	119434422	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:119434422A>G	uc003ede.4	+	5	591	c.514A>G	c.(514-516)Act>Gct	p.T172A	C3orf15_uc003edc.2_Missense_Mutation_p.T172A|C3orf15_uc010hqy.2_Missense_Mutation_p.T172A|C3orf15_uc010hqz.3_Missense_Mutation_p.T110A|C3orf15_uc011bjd.2_Missense_Mutation_p.T46A|C3orf15_uc011bje.2_Missense_Mutation_p.T152A|C3orf15_uc010hra.2_5'UTR	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN	Homo sapiens chromosome 3 open reading frame 15 (C3orf15), mRNA.	172						mitochondrion	protein binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.186)		AGAACCATACACTTTTCCTCC	0.368000												
CUL1	8454	broad.mit.edu	37	7	148496426	148496426	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:148496426C>T	uc010lpg.3	+	20	2722	c.2196C>T	c.(2194-2196)ggC>ggT	p.G732G	CUL1_uc003wey.3_Silent_p.G732G|CUL1_uc003wez.3_Silent_p.G622G|CUL1_uc003wfa.3_Silent_p.G393G	NM_003592	NP_003583	Q13616	CUL1_HUMAN	Homo sapiens cullin 1 (CUL1), mRNA.	732					G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination	SCF ubiquitin ligase complex|cytosol|nucleoplasm	ubiquitin protein ligase binding	p.G732G(2)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			AGTTACTTGGCGAGGTCCTCA	0.453000												
HABP2	3026	broad.mit.edu	37	10	115334090	115334090	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:115334090A>C	uc001lai.4	+	2	252	c.149A>C	c.(148-150)aAt>aCt	p.N50T	HABP2_uc021pyr.1_Missense_Mutation_p.N24T|HABP2_uc010qrz.1_Non-coding_Transcript|HABP2_uc010qry.1_Missense_Mutation_p.I39L	NM_004132	NP_001171131	Q14520	HABP2_HUMAN	Homo sapiens hyaluronan binding protein 2 (HABP2), transcript variant 1, mRNA.	50					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)		GAGGATTATAATCAGGAAGAG	0.473000												
SH3BP5L	80851	broad.mit.edu	37	1	249108714	249108714	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:249108714G>A	uc001iew.1	-	4	1023	c.471C>T	c.(469-471)ggC>ggT	p.G157G	SH3BP5L_uc010pzp.1_Silent_p.G50G|SH3BP5L_uc001iev.1_Silent_p.G38G	NM_030645	NP_085148	Q7L8J4	3BP5L_HUMAN	Homo sapiens SH3-binding domain protein 5-like (SH3BP5L), mRNA.	157										endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CAGCCATGACGCCCTGCTCAG	0.627000												
NPR3	4883	broad.mit.edu	37	5	32712628	32712628	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:32712628G>A	uc003jhv.3	+	0	1191	c.746G>A	c.(745-747)cGc>cAc	p.R249H	NPR3_uc010iuo.3_Intron|NPR3_uc003jhw.2_Intron|NPR3_uc003jhu.3_Missense_Mutation_p.R249H	NM_001204375	NP_001191304	P17342	ANPRC_HUMAN	Homo sapiens natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C) (NPR3), transcript variant 1, mRNA.	249					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	GACATCGTGCGCAATATCCAG	0.627000												
C10orf137	26098	broad.mit.edu	37	10	127424342	127424342	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:127424342C>T	uc001liq.1	+	12	1920	c.1627C>T	c.(1627-1629)Ccc>Tcc	p.P543S	C10orf137_uc001lin.3_Missense_Mutation_p.P509S|C10orf137_uc001lip.1_Missense_Mutation_p.P247S|C10orf137_uc001lio.1_Missense_Mutation_p.P509S|C10orf137_uc001lir.3_Missense_Mutation_p.P37S	NM_001202438	NP_001189367	Q3B7T1	EDRF1_HUMAN	Homo sapiens chromosome 10 open reading frame 137 (C10orf137), transcript variant 1, mRNA.	543					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GGAAGAGATGCCCGACAGTGA	0.378000												
POFUT2	23275	broad.mit.edu	37	21	46705800	46705800	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr21:46705800G>A	uc002zhc.3	-	1	200	c.175C>T	c.(175-177)Cgc>Tgc	p.R59C	POFUT2_uc002zhb.3_Non-coding_Transcript|POFUT2_uc002zhd.3_Missense_Mutation_p.R59C|POFUT2_uc011afp.1_Missense_Mutation_p.R59C|POFUT2_uc011afq.1_Missense_Mutation_p.R59C|LOC642852_uc002zhf.3_5'Flank	NM_133635	NP_598368	Q9Y2G5	OFUT2_HUMAN	Homo sapiens protein O-fucosyltransferase 2 (POFUT2), transcript variant 3, mRNA.	59					fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20				Colorectal(79;0.243)		ACATCCCTGCGCAGGTTGAAG	0.557000												
GCOM1	145781	broad.mit.edu	37	15	57929897	57929897	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:57929897G>A	uc002aei.3	+	8	1069	c.938G>A	c.(937-939)cGt>cAt	p.R313H	GCOM1_uc002aej.3_Missense_Mutation_p.R313H|GCOM1_uc002aek.3_Non-coding_Transcript|GCOM1_uc002ael.3_Non-coding_Transcript|GCOM1_uc002aem.3_Missense_Mutation_p.R313H|GCOM1_uc002aep.3_Non-coding_Transcript|GCOM1_uc010bfx.3_Non-coding_Transcript|GCOM1_uc002aeq.3_Non-coding_Transcript|GCOM1_uc002aen.3_Non-coding_Transcript|GCOM1_uc010bfy.3_Non-coding_Transcript|GCOM1_uc002aeo.3_Missense_Mutation_p.R313H	NM_001018100	NP_001018110	P0CAP1	GCOM1_HUMAN	Homo sapiens myocardial zonula adherens protein (MYZAP), transcript variant 1, mRNA.	313					intracellular signal transduction	I band|extrinsic to internal side of plasma membrane				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						TTTTAGGAACGTCATCAACTG	0.383000												
TNRC6B	23112	broad.mit.edu	37	22	40681651	40681651	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:40681651C>T	uc011aor.2	+	11	3796	c.3585C>T	c.(3583-3585)ggC>ggT	p.G1195G	TNRC6B_uc003aym.3_Silent_p.G391G|TNRC6B_uc003ayn.4_Silent_p.G1085G|TNRC6B_uc003ayo.3_Silent_p.G942G	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	Homo sapiens trinucleotide repeat containing 6B (TNRC6B), transcript variant 1, mRNA.	1195	Gln-rich.				gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	RNA binding|nucleotide binding			breast(1)	1						GTTTACAGGGCGGTAGTCATG	0.463000												
CSMD1	64478	broad.mit.edu	37	8	3205517	3205517	+	Silent	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:3205517T>C	uc022aqr.1	-	21	3861	c.3471A>G	c.(3469-3471)ctA>ctG	p.L1157L	CSMD1_uc011kwj.2_Silent_p.L550L|CSMD1_uc003wqe.3_Silent_p.L314L	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1158	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)		TTTTTACCTTTAGAGTATCTC	0.338000												
GRIK2	2898	broad.mit.edu	37	6	102074360	102074360	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:102074360T>C	uc003pqp.4	+	2	682	c.389T>C	c.(388-390)aTa>aCa	p.I130T	GRIK2_uc021zdj.1_Missense_Mutation_p.I130T|GRIK2_uc003pqn.3_Missense_Mutation_p.I130T|GRIK2_uc010kcw.3_Missense_Mutation_p.I130T|GRIK2_uc003pqo.4_Missense_Mutation_p.I130T|GRIK2_uc021zdk.1_Missense_Mutation_p.I130T|GRIK2_uc021zdl.1_Non-coding_Transcript	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 2 (GRIK2), transcript variant 1, mRNA.	130					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	GTTCCCCACATACAGACCCGC	0.532000												
RILPL1	353116	broad.mit.edu	37	12	123957201	123957201	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:123957201G>A	uc001ufe.2	-	6	1332	c.1096C>T	c.(1096-1098)Cgc>Tgc	p.R366C	RILPL1_uc001ufd.2_Missense_Mutation_p.R215C|RILPL1_uc010tas.1_3'UTR	NM_178314	NP_847884	Q5EBL4	RIPL1_HUMAN	Homo sapiens Rab interacting lysosomal protein-like 1 (RILPL1), mRNA.	366					neuroprotection	cytosol				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197)		TTGGCCAGGCGCTTCTTATCT	0.512000												
CKAP5	9793	broad.mit.edu	37	11	46797803	46797803	+	Splice_Site	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:46797803A>G	uc001ndi.2	-	24	3117	c.2991_splice	c.e24+1	p.E997_splice	CKAP5_uc009ylg.1_Splice_Site_p.E883_splice|CKAP5_uc001ndj.2_Splice_Site_p.E997_splice	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN	Homo sapiens cytoskeleton associated protein 5 (CKAP5), transcript variant 1, mRNA.	997					G2/M transition of mitotic cell cycle|RNA transport|cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|mitotic prometaphase|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TATGATACTAACCTCTTGCCT	0.403000												
DDX42	11325	broad.mit.edu	37	17	61895700	61895700	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:61895700C>T	uc002jbu.3	+	18	3016	c.2759C>T	c.(2758-2760)gCt>gTt	p.A920V	DDX42_uc002jbv.3_Missense_Mutation_p.A920V|DDX42_uc002jbx.3_Missense_Mutation_p.A656V|DDX42_uc002jby.3_Missense_Mutation_p.A466V|DDX42_uc010wps.2_Missense_Mutation_p.A288V	NM_007372	NP_987095	Q86XP3	DDX42_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 42 (DDX42), transcript variant 1, mRNA.	920					protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						GATAAGACAGCTGACGGCTTT	0.473000												
ZMYM4	9202	broad.mit.edu	37	1	35855553	35855553	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:35855553C>T	uc001byt.3	+	14	2521	c.2441C>T	c.(2440-2442)gCc>gTc	p.A814V	ZMYM4_uc009vuu.3_Missense_Mutation_p.A782V|ZMYM4_uc001byu.3_Missense_Mutation_p.A490V|ZMYM4_uc009vuv.3_Missense_Mutation_p.A553V	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN	Homo sapiens zinc finger, MYM-type 4 (ZMYM4), mRNA.	814					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TTTTAGATGGCCAAATGTGAT	0.368000												
ATG16L1	55054	broad.mit.edu	37	2	234202917	234202917	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:234202917C>T	uc002vty.3	+	17	2002	c.1745C>T	c.(1744-1746)gCg>gTg	p.A582V	ATG16L1_uc021vyl.1_Missense_Mutation_p.A466V|ATG16L1_uc002vub.3_Missense_Mutation_p.A440V|ATG16L1_uc002vtz.3_Missense_Mutation_p.A403V|ATG16L1_uc002vud.4_Missense_Mutation_p.A498V|ATG16L1_uc002vua.3_Missense_Mutation_p.A563V|ATG16L1_uc002vtx.2_Missense_Mutation_p.A419V	NM_030803	NP_001177196	Q676U5	A16L1_HUMAN	Homo sapiens ATG16 autophagy related 16-like 1 (S. cerevisiae) (ATG16L1), transcript variant 1, mRNA.	582					autophagic vacuole assembly|protein homooligomerization|protein transport	autophagic vacuole|pre-autophagosomal structure membrane	protein binding	p.A582E(2)|p.R241R(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		TCCATCAATGCGGTGGCGTGG	0.522000												
AKAP9	10142	broad.mit.edu	37	7	91652318	91652318	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:91652318G>A	uc003ulg.3	+	13	4368	c.4143G>A	c.(4141-4143)ccG>ccA	p.P1381P	AKAP9_uc003ule.2_Silent_p.P1393P|AKAP9_uc003ulf.3_Silent_p.P1381P|AKAP9_uc003uli.3_Silent_p.P1006P	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	1393					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CCACGGTTCCGCCAAGGTATT	0.378000			T	BRAF	papillary thyroid							
CLN6	54982	broad.mit.edu	37	15	68500592	68500592	+	Silent	SNP	C	C	T	rs151186473	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:68500592C>T	uc010ujz.2	-	6	1156	c.918G>A	c.(916-918)gcG>gcA	p.A306A	CALML4_uc002arb.3_5'Flank|CALML4_uc002arc.3_5'Flank|CALML4_uc002ard.3_5'Flank|CALML4_uc002are.3_5'Flank|CALML4_uc010bhz.3_5'Flank|CLN6_uc002arf.3_Silent_p.A274A|CLN6_uc010ujy.2_Silent_p.A145A	NM_017882	NP_060352	Q9NWW5	CLN6_HUMAN	Homo sapiens ceroid-lipofuscinosis, neuronal 6, late infantile, variant (CLN6), mRNA.	274					cell death|cholesterol metabolic process|ganglioside metabolic process|glycosaminoglycan metabolic process|lysosomal lumen acidification|positive regulation of proteolysis|protein catabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	protein homodimerization activity			large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CGACCCAGAGCGCCACAAGCA	0.602000												
CSDA	8531	broad.mit.edu	37	12	10862684	10862684	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:10862684G>A	uc001qyt.3	-	5	846	c.603C>T	c.(601-603)agC>agT	p.S201S	CSDA_uc001qyu.3_Intron	NM_003651	NP_003642	P16989	DBPA_HUMAN	Homo sapiens cold shock domain protein A (CSDA), transcript variant 1, mRNA.	201					negative regulation of transcription from RNA polymerase II promoter|response to cold	cytoplasm|nucleus	double-stranded DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	19	Glioma(1;0.155)					CACTGCTGCCGCTCCCTTCCT	0.557000												
MKI67	4288	broad.mit.edu	37	10	129905990	129905990	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:129905990G>A	uc001lke.3	-	12	4309	c.4114C>T	c.(4114-4116)Ccc>Tcc	p.P1372S	MKI67_uc001lkf.3_Missense_Mutation_p.P1012S|MKI67_uc009yav.1_Missense_Mutation_p.P947S|MKI67_uc009yaw.1_Missense_Mutation_p.P522S	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	1372	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GATTCGCAGGGCATTTTAGTA	0.522000												
PPM1H	57460	broad.mit.edu	37	12	63182064	63182064	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:63182064C>T	uc001srk.3	-	3	960	c.811G>A	c.(811-813)Gcc>Acc	p.A271T		NM_020700	NP_065751	Q9ULR3	PPM1H_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1H (PPM1H), mRNA.	271	PP2C-like.						phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		ACAATGAGGGCCGTGCAGCCA	0.443000												
KIDINS220	57498	broad.mit.edu	37	2	8871355	8871355	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:8871355G>A	uc002qzc.2	-	29	4993	c.4811C>T	c.(4810-4812)gCg>gTg	p.A1604V	KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Missense_Mutation_p.A1505V|KIDINS220_uc002qzb.2_Missense_Mutation_p.A458V	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	Homo sapiens kinase D-interacting substrate, 220kDa (KIDINS220), mRNA.	1604					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GGAGTCATCCGCCACTTCATT	0.488000												
PCBP4	57060	broad.mit.edu	37	3	51993937	51993937	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:51993937G>A	uc003dcc.2	-	3	1274	c.553C>T	c.(553-555)Cgc>Tgc	p.R185C	PCBP4_uc003dcb.2_Missense_Mutation_p.R130C|PCBP4_uc003dcf.2_Missense_Mutation_p.R164C|PCBP4_uc003dce.2_Missense_Mutation_p.R164C|PCBP4_uc003dcg.2_Missense_Mutation_p.R130C|PCBP4_uc003dcj.2_Missense_Mutation_p.R164C|PCBP4_uc003dck.2_Intron|PCBP4_uc003dch.2_Missense_Mutation_p.R164C|PCBP4_uc003dci.2_Intron			P57723	PCBP4_HUMAN	Homo sapiens poly(rC) binding protein 4 (PCBP4), transcript variant 4, mRNA.	164						cytoplasm|ribonucleoprotein complex	DNA binding|RNA binding			endometrium(2)|large_intestine(2)|lung(2)|prostate(1)|stomach(1)	8				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CAGATCTGGCGCACACACAGG	0.642000												
FER1L5	90342	broad.mit.edu	37	2	97369074	97369074	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:97369074G>A	uc010fia.3	+	48	5790	c.5790G>A	c.(5788-5790)tgG>tgA	p.W1930*	FER1L5_uc002sws.4_Nonsense_Mutation_p.W639*|FER1L5_uc010yus.2_Nonsense_Mutation_p.W638*	NM_001113382	NP_001106853	A0AVI2	FR1L5_HUMAN	Homo sapiens fer-1-like 5 (C. elegans) (FER1L5), mRNA.	1930						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						GTGGCAAATGGCGCTTGTCGG	0.517000												
SBF2	81846	broad.mit.edu	37	11	9838554	9838554	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:9838554G>A	uc001mib.2	-	28	3949	c.3811C>T	c.(3811-3813)Cgc>Tgc	p.R1271C	SBF2_uc001mid.2_5'UTR	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	Homo sapiens SET binding factor 2 (SBF2), mRNA.	1271	Myotubularin phosphatase.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		GTGCTAGAGCGAAGACTTGCC	0.512000												
DHX16	8449	broad.mit.edu	37	6	30624478	30624478	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:30624478C>T	uc003nqz.3	-	13	2419	c.2207G>A	c.(2206-2208)cGc>cAc	p.R736H	DHX16_uc003nqy.3_Missense_Mutation_p.R255H|DHX16_uc011dmo.2_Missense_Mutation_p.R676H	NM_003587	NP_003578	O60231	DHX16_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 16 (DHX16), transcript variant 1, mRNA.	736	Helicase C-terminal.				RNA splicing|mRNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA helicase activity|nucleic acid binding			kidney(2)|ovary(2)	4						GGTATACAGGCGGAAGCACTT	0.592000												
ZNF75A	7627	broad.mit.edu	37	16	3367335	3367335	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:3367335G>A	uc002cut.4	+	5	883	c.357G>A	c.(355-357)atG>atA	p.M119I	ZNF75A_uc002cuv.4_Non-coding_Transcript	NM_153028	NP_694573	Q96N20	ZN75A_HUMAN	Homo sapiens zinc finger protein 75a (ZNF75A), mRNA.	119					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.M119I(2)		breast(1)|large_intestine(3)|lung(7)|prostate(1)	12						ATTTTGATATGCACAGAGTGG	0.388000												
KCNH1	3756	broad.mit.edu	37	1	210971031	210971031	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:210971031C>A	uc001hib.2	-	8	1904	c.1734G>T	c.(1732-1734)gaG>gaT	p.E578D	KCNH1_uc001hic.2_Missense_Mutation_p.E551D	NM_172362	NP_758872	O95259	KCNH1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA.	578					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		AGGCCGGGTGCTCCTTGAACA	0.602000												
LRRC8E	80131	broad.mit.edu	37	19	7965043	7965043	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:7965043G>A	uc002mir.3	+	2	1737	c.1636G>A	c.(1636-1638)Gcc>Acc	p.A546T		NM_025061	NP_079337	Q6NSJ5	LRC8E_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member E (LRRC8E), mRNA.	546						integral to membrane				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						CCGGAGCAACGCCGGGAAGGT	0.657000												
SEH1L	81929	broad.mit.edu	37	18	12955495	12955495	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:12955495G>A	uc002krq.3	+	2	334	c.196G>A	c.(196-198)Gcc>Acc	p.A66T	SEH1L_uc002krr.3_Missense_Mutation_p.A66T	NM_001013437	NP_001013455	Q96EE3	SEH1_HUMAN	Homo sapiens SEH1-like (S. cerevisiae) (SEH1L), transcript variant 1, mRNA.	66					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mRNA transport|mitotic metaphase plate congression|mitotic prometaphase|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|condensed chromosome kinetochore|cytosol				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						TGTGACATGGGCCCATCCTGA	0.418000												
EDNRB	1910	broad.mit.edu	37	13	78492681	78492681	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:78492681G>A	uc001vkp.1	-	1	451	c.298C>T	c.(298-300)Cgc>Tgc	p.R100C	BX647243_uc001vks.3_5'Flank|EDNRB_uc001vkq.1_Missense_Mutation_p.R10C|EDNRB_uc001vko.2_Missense_Mutation_p.R10C|EDNRB_uc010aez.1_Missense_Mutation_p.R10C	NM_001201397	NP_001188326	P24530	EDNRB_HUMAN	Homo sapiens endothelin receptor type B (EDNRB), transcript variant 4, mRNA.	10					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	ACCAGGGCGCGTCCGCACAGA	0.647000											OREG0022452	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
TAB3	257397	broad.mit.edu	37	X	30872570	30872570	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:30872570C>T	uc004dcj.3	-	5	1875	c.1212G>A	c.(1210-1212)acG>acA	p.T404T	TAB3_uc004dck.3_Silent_p.T404T|TAB3_uc010ngl.3_Silent_p.T404T	NM_152787	NP_690000	Q8N5C8	TAB3_HUMAN	Homo sapiens TGF-beta activated kinase 1/MAP3K7 binding protein 3 (TAB3), mRNA.	404	Pro-rich.				I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|innate immune response|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						TTGAAGGTGGCGTGGTGGCTG	0.433000												
HOXA1	3198	broad.mit.edu	37	7	27134298	27134298	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:27134298C>T	uc003sye.3	-	1	863	c.769G>A	c.(769-771)Gcc>Acc	p.A257T	HOXA1_uc003syd.3_3'UTR|HOXA1_uc022aao.1_3'UTR|HOTAIRM1_uc003syg.3_5'Flank|HOTAIRM1_uc022aap.1_5'Flank	NM_005522	NP_005513	P49639	HXA1_HUMAN	Homo sapiens homeobox A1 (HOXA1), transcript variant 1, mRNA.	257						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R256C(1)		endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ACCCTGCGGGCGCGCGTCAGG	0.567000												
FOXA2	3170	broad.mit.edu	37	20	22563405	22563405	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:22563405G>A	uc002wsm.3	-	1	660	c.475C>T	c.(475-477)Cgc>Tgc	p.R159C	FOXA2_uc002wsn.3_Missense_Mutation_p.R153C	NM_021784	NP_710141	Q9Y261	FOXA2_HUMAN	Homo sapiens forkhead box A2 (FOXA2), transcript variant 1, mRNA.	153					cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					GTGTAGCTGCGCCTGTAGGTC	0.647000												
HSD17B2	3294	broad.mit.edu	37	16	82131906	82131906	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:82131906C>T	uc002fgv.3	+	4	1201	c.1029C>T	c.(1027-1029)ggC>ggT	p.G343G		NM_002153	NP_002144	P37059	DHB2_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 2 (HSD17B2), mRNA.	343					response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10					NADH(DB00157)	CAGGGAAAGGCGCTTACTTGT	0.498000												
DSP	1832	broad.mit.edu	37	6	7584793	7584793	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:7584793G>A	uc003mxp.1	+	23	7577	c.7298G>A	c.(7297-7299)tGc>tAc	p.C2433Y	DSP_uc003mxq.1_Missense_Mutation_p.C1834Y|DSP_uc021yle.1_Missense_Mutation_p.C1990Y	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2433	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AAAGAAAGATGCATTAAGGAT	0.413000												
RANGAP1	5905	broad.mit.edu	37	22	41676993	41676993	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:41676993G>A	uc003azs.3	-	0	1526	c.56C>T	c.(55-57)gCc>gTc	p.A19V	RANGAP1_uc003azt.3_Missense_Mutation_p.A19V|RANGAP1_uc003azu.3_Missense_Mutation_p.A19V|RANGAP1_uc011aoz.2_5'Flank	NM_002883	NP_002874	P46060	RAGP1_HUMAN	Homo sapiens Ran GTPase activating protein 1 (RANGAP1), mRNA.	19					mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	Ran GTPase activator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTGTCCCCCGGCCACCTGAGT	0.557000												
APPL1	26060	broad.mit.edu	37	3	57293966	57293966	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:57293966G>A	uc003dio.3	+	16	1724	c.1577G>A	c.(1576-1578)cGc>cAc	p.R526H	APPL1_uc010hnb.3_Missense_Mutation_p.R526H|APPL1_uc011bey.1_Missense_Mutation_p.R509H	NM_012096	NP_036228	Q9UKG1	DP13A_HUMAN	Homo sapiens adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 (APPL1), mRNA.	526	PID.				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		GAAACTATGCGCCAAATCTTA	0.378000												
ABCC9	10060	broad.mit.edu	37	12	22063104	22063104	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:22063104G>A	uc001rfh.3	-	7	1327	c.1307C>T	c.(1306-1308)gCt>gTt	p.A436V	ABCC9_uc001rfi.1_Missense_Mutation_p.A436V	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	436	ABC transmembrane type-1 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AACAGGCATAGCCCATAGATT	0.378000												
GSG1	83445	broad.mit.edu	37	12	13243486	13243486	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:13243486G>T	uc001rbn.3	-	1	499	c.315C>A	c.(313-315)agC>agA	p.S105R	GSG1_uc001rbl.3_Missense_Mutation_p.S92R|GSG1_uc001rbj.3_Missense_Mutation_p.S92R|GSG1_uc001rbk.3_Missense_Mutation_p.S92R|GSG1_uc001rbm.3_Missense_Mutation_p.S92R|GSG1_uc001rbo.3_Missense_Mutation_p.S105R|GSG1_uc001rbp.3_Missense_Mutation_p.S105R|GSG1_uc001rbq.2_Missense_Mutation_p.S105R	NM_001080555	NP_001074024	Q2KHT4	GSG1_HUMAN	Homo sapiens germ cell associated 1 (GSG1), transcript variant 4, mRNA.	92						endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		CACTCCGGAAGCTCCGGAAGG	0.552000												
CREBBP	1387	broad.mit.edu	37	16	3781373	3781373	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:3781373G>A	uc002cvv.3	-	29	5196	c.4992C>T	c.(4990-4992)cgC>cgT	p.R1664R	CREBBP_uc002cvw.3_Silent_p.R1626R	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	1664	Interaction with TRERF1.		R -> H (in RSTS1; abolishes acetyltransferase activity).		N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	MyoD binding|histone acetyltransferase activity|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.R1664C(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GGAAGGCGTCGCGCCCATCCA	0.642000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome					
LAMP1	3916	broad.mit.edu	37	13	113975905	113975905	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:113975905G>A	uc001vtm.1	+	7	1258	c.977G>A	c.(976-978)cGa>cAa	p.R326Q	LAMP1_uc010tka.1_Missense_Mutation_p.R273Q	NM_005561	NP_005552	P11279	LAMP1_HUMAN	Homo sapiens lysosomal-associated membrane protein 1 (LAMP1), mRNA.	326	Second lumenal domain.					endosome membrane|integral to plasma membrane|lysosomal membrane|membrane fraction				NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2)	16	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			GGCTCCCTGCGAGCGCTGCAG	0.607000												
SLC39A8	64116	broad.mit.edu	37	4	103228683	103228683	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:103228683C>A	uc003hwb.1	-	2	991	c.462G>T	c.(460-462)aaG>aaT	p.K154N	SLC39A8_uc011ceo.1_Missense_Mutation_p.K154N|SLC39A8_uc003hwa.1_Missense_Mutation_p.K87N|SLC39A8_uc003hwc.2_Missense_Mutation_p.K154N	NM_022154	NP_071437	Q9C0K1	S39A8_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 8 (SLC39A8), transcript variant 1, mRNA.	154						integral to membrane|organelle membrane|plasma membrane	zinc ion transmembrane transporter activity			large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Hepatocellular(203;0.217)		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)		AATAAGATTTCTTTATCAGTG	0.398000												
TMPRSS15	5651	broad.mit.edu	37	21	19713822	19713822	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr21:19713822G>A	uc002ykw.3	-	12	1503	c.1472C>T	c.(1471-1473)gCg>gTg	p.A491V		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	491	MAM.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	p.A491V(2)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						GTCATCCAACGCAATATCACT	0.388000												
IKBKAP	8518	broad.mit.edu	37	9	111659242	111659242	+	Missense_Mutation	SNP	C	C	T	rs137983175		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:111659242C>T	uc004bdm.4	-	23	3098	c.2578G>A	c.(2578-2580)Gag>Aag	p.E860K	IKBKAP_uc004bdl.3_Missense_Mutation_p.E511K|IKBKAP_uc011lwc.2_Missense_Mutation_p.E746K|IKBKAP_uc010mtq.3_Missense_Mutation_p.E511K	NM_003640	NP_003631	O95163	ELP1_HUMAN	Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein (IKBKAP), mRNA.	860					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	DNA-directed RNA polymerase II, holoenzyme|cytoplasm|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CCTTGAAGCTCGTGTACTTTT	0.448000												
ETS1	2113	broad.mit.edu	37	11	128350146	128350146	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:128350146G>A	uc010sbs.1	-	5	1247	c.931C>T	c.(931-933)Cgt>Tgt	p.R311C	ETS1_uc001qej.2_Missense_Mutation_p.R355C|ETS1_uc009zch.2_Missense_Mutation_p.R95C|ETS1_uc009zcg.2_Intron	NM_005238	NP_005229	P14921	ETS1_HUMAN	Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog 1 (avian) (ETS1), transcript variant 2, mRNA.	311					PML body organization|cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.R311H(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		AGGTCAGCACGGTCCCGCACA	0.597000												
CLASP2	23122	broad.mit.edu	37	3	33592749	33592749	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:33592749G>A	uc021wvc.1	-	29	3383	c.3172C>T	c.(3172-3174)Cgg>Tgg	p.R1058W	CLASP2_uc003cfs.3_Missense_Mutation_p.R257W|CLASP2_uc021wva.1_Missense_Mutation_p.R132W|CLASP2_uc021wvb.1_Missense_Mutation_p.R837W|CLASP2_uc011axt.1_Missense_Mutation_p.R650W	NM_015097	NP_055912	B2RTR1	B2RTR1_HUMAN	Homo sapiens cytoplasmic linker associated protein 2 (CLASP2), transcript variant 1, mRNA.	1059										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						TATACCTTCCGAACATCAGAA	0.388000												
KIAA0226	9711	broad.mit.edu	37	3	197402018	197402018	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:197402018C>T	uc003fyc.2	-	19	2973	c.2790G>A	c.(2788-2790)ccG>ccA	p.P930P	KIAA0226_uc003fyd.3_Silent_p.P885P|KIAA0226_uc021xjw.1_5'Flank	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	Homo sapiens KIAA0226 (KIAA0226), transcript variant 2, mRNA.	930	Cys-rich.				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		GCTCGCAGCGCGGACAGCTTC	0.587000												
SLC5A7	60482	broad.mit.edu	37	2	108618435	108618435	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:108618435C>T	uc002tdv.3	+	5	956	c.680C>T	c.(679-681)cCg>cTg	p.P227L	SLC5A7_uc010ywm.2_5'UTR|SLC5A7_uc010fjj.3_Missense_Mutation_p.P227L|SLC5A7_uc010ywn.2_Missense_Mutation_p.P114L	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA.	227					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TACCAAAAGCCGTGGCTGGGA	0.453000												
COL2A1	1280	broad.mit.edu	37	12	48369182	48369182	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:48369182G>A	uc001rqu.3	-	50	3985	c.3804C>T	c.(3802-3804)agC>agT	p.S1268S	COL2A1_uc001rqt.3_Silent_p.S49S|COL2A1_uc009zkw.3_Non-coding_Transcript|COL2A1_uc001rqv.3_Silent_p.S1199S	NM_001844	NP_001835	P02458	CO2A1_HUMAN	Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA.	1268	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GGCTGCGGATGCTCTCAATCT	0.617000												
NCOR1	9611	broad.mit.edu	37	17	15974755	15974755	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:15974755T>C	uc002gpo.3	-	29	4389	c.4120A>G	c.(4120-4122)Aca>Gca	p.T1374A	NCOR1_uc002gpn.3_Missense_Mutation_p.T1390A|NCOR1_uc002gpp.1_Missense_Mutation_p.T1281A|NCOR1_uc010vwb.2_Intron|NCOR1_uc010coy.3_Missense_Mutation_p.T282A|NCOR1_uc010vwc.2_Missense_Mutation_p.T185A	NM_006311	NP_006302	O75376	NCOR1_HUMAN	Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA.	1374	Interaction with ETO.				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)		ATCGGCCGTGTGCTCTGGACC	0.403000												
CHRM4	1132	broad.mit.edu	37	11	46408103	46408103	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:46408103G>A	uc001nct.1	-	0	5	c.5C>T	c.(4-6)gCc>gTc	p.A2V		NM_000741	NP_000732	P08173	ACM4_HUMAN	Homo sapiens cholinergic receptor, muscarinic 4 (CHRM4), mRNA.	2					cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)	TGTGAAGTTGGCCATGTTGGT	0.557000												
MTIF2	4528	broad.mit.edu	37	2	55490845	55490845	+	Silent	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:55490845G>T	uc002ryn.3	-	4	887	c.150C>A	c.(148-150)gcC>gcA	p.A50A	MTIF2_uc010yox.2_5'UTR|MTIF2_uc002ryo.3_Silent_p.A50A|MTIF2_uc002ryp.1_Non-coding_Transcript	NM_001005369	NP_002444	P46199	IF2M_HUMAN	Homo sapiens mitochondrial translational initiation factor 2 (MTIF2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	50					regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						GCCAGGGCCAGGCACACAGTT	0.433000												
KIF4A	24137	broad.mit.edu	37	X	69615826	69615826	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:69615826C>T	uc004dyg.3	+	21	2559	c.2416C>T	c.(2416-2418)Cgt>Tgt	p.R806C	KIF4A_uc010nkw.3_Missense_Mutation_p.R806C	NM_012310	NP_036442	O95239	KIF4A_HUMAN	Homo sapiens kinesin family member 4A (KIF4A), mRNA.	806	Interaction with PRC1.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						TACTGAAGTGCGTGGTCAAGT	0.398000												
FRYL	285527	broad.mit.edu	37	4	48591779	48591779	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:48591779C>T	uc003gyh.1	-	17	2228	c.1623G>A	c.(1621-1623)gaG>gaA	p.E541E	FRYL_uc003gyk.3_Silent_p.E541E	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	541					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TGTCTTCAGGCTCCTTATTAG	0.398000												
ARAP2	116984	broad.mit.edu	37	4	36085059	36085059	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:36085059T>C	uc003gsq.2	-	28	4777	c.4439A>G	c.(4438-4440)gAc>gGc	p.D1480G		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	1480	PH 5.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						AAACATCTTGTCATGTTTACT	0.313000												
MAP1B	4131	broad.mit.edu	37	5	71491738	71491738	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:71491738G>T	uc003kbw.4	+	4	2797	c.2556G>T	c.(2554-2556)aaG>aaT	p.K852N	MAP1B_uc010iyw.1_Missense_Mutation_p.K869N|MAP1B_uc010iyx.1_Missense_Mutation_p.K726N|MAP1B_uc010iyy.1_Missense_Mutation_p.K726N	NM_005909	NP_005900	P46821	MAP1B_HUMAN	Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.	852						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		ATGTAACAAAGGACATCAAGC	0.478000												
HAL	3034	broad.mit.edu	37	12	96380970	96380970	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:96380970G>A	uc001tem.1	-	11	1223	c.926C>T	c.(925-927)aCg>aTg	p.T309M	HAL_uc010sux.1_Missense_Mutation_p.T309M|HAL_uc009zti.1_Non-coding_Transcript|HAL_uc010suw.1_Missense_Mutation_p.T101M	NM_002108	NP_002099	P42357	HUTH_HUMAN	Homo sapiens histidine ammonia-lyase (HAL), mRNA.	309					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	GATCATCTGCGTCCCATTGAT	0.527000												
HEPHL1	341208	broad.mit.edu	37	11	93826690	93826690	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:93826690G>A	uc001pep.2	+	12	2475	c.2318G>A	c.(2317-2319)cGc>cAc	p.R773H	AF086184_uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	773	Plastocyanin-like 5.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TTTATGAACCGCACTGAAAAT	0.428000												
PHIP	55023	broad.mit.edu	37	6	79708078	79708078	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:79708078T>G	uc011dyp.2	-	17	2136	c.1910A>C	c.(1909-1911)aAc>aCc	p.N637T	PHIP_uc003pir.3_Missense_Mutation_p.N637T	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN	Homo sapiens pleckstrin homology domain interacting protein (PHIP), mRNA.	637					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		GATCTCCTGGTTTGCTTGCTG	0.398000												
C1orf96	126731	broad.mit.edu	37	1	229462504	229462504	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:229462504G>A	uc001htl.4	-	2	695	c.617C>T	c.(616-618)gCg>gTg	p.A206V	C1orf96_uc009xfc.3_Non-coding_Transcript	NM_145257	NP_660300	Q6IQ19	CA096_HUMAN	Homo sapiens chromosome 1 open reading frame 96 (C1orf96), mRNA.	206						centrosome				breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.178)				AGGAGCGGACGCACAGACGTT	0.532000												
PLXNA4	91584	broad.mit.edu	37	7	132174113	132174113	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:132174113C>T	uc003vra.4	-	2	1538	c.1309G>A	c.(1309-1311)Gca>Aca	p.A437T	PLXNA4_uc003vrc.2_Missense_Mutation_p.A437T|PLXNA4_uc003vrb.3_Missense_Mutation_p.A437T	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	437	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TAGACATATGCGATGACAGAC	0.527000												
ERCC6L	54821	broad.mit.edu	37	X	71425358	71425358	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:71425358T>C	uc004eaq.1	-	1	3356	c.3259A>G	c.(3259-3261)Atg>Gtg	p.M1087V	PIN4_uc004eao.2_Intron|ERCC6L_uc004eap.1_Missense_Mutation_p.M964V	NM_017669	NP_060139	Q2NKX8	ERC6L_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6-like (ERCC6L), mRNA.	1087					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding	p.M1087I(1)		breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					CTAGAGTTCATAGACTTATTT	0.413000												
LHFPL5	222662	broad.mit.edu	37	6	35773571	35773571	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:35773571G>A	uc003olg.1	+	0	501	c.124G>A	c.(124-126)Gcc>Acc	p.A42T		NM_182548	NP_872354	Q8TAF8	TMHS_HUMAN	Homo sapiens lipoma HMGIC fusion partner-like 5 (LHFPL5), mRNA.	42						integral to membrane				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						ACTGGTCATGGCCCTCTTCAT	0.592000												
PHB	5245	broad.mit.edu	37	17	47486737	47486737	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:47486737G>A	uc002iox.1	-	3	422	c.349C>T	c.(349-351)Cgt>Tgt	p.R117C		NM_002634	NP_002625	P35232	PHB_HUMAN	Homo sapiens prohibitin (PHB), mRNA.	117					DNA replication|cellular response to interleukin-6|glucocorticoid receptor signaling pathway|histone deacetylation|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|progesterone receptor signaling pathway|regulation of apoptosis	integral to plasma membrane|mitochondrial inner membrane|nucleoplasm	histone deacetylase binding|transcription regulatory region DNA binding	p.E116A(1)		endometrium(4)|large_intestine(2)|lung(4)	10	all_cancers(4;2.62e-14)|Breast(4;4.21e-29)|all_epithelial(4;6.9e-18)		Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)			GGCAGCACACGCTCATCATAG	0.572000												
ARHGAP32	9743	broad.mit.edu	37	11	128993351	128993351	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:128993351C>T	uc009zcp.3	-	3	392	c.392G>A	c.(391-393)gGc>gAc	p.G131D	ARHGAP32_uc009zcq.2_Missense_Mutation_p.G91D	NM_001142685	NP_055530	A7KAX9	RHG32_HUMAN	Homo sapiens Rho GTPase activating protein 32 (ARHGAP32), transcript variant 1, mRNA.	131	PX; atypical.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi membrane|cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CTGTATGCTGCCGAACTCAAC	0.323000												
BPTF	2186	broad.mit.edu	37	17	65908478	65908478	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:65908478C>T	uc002jgf.3	+	10	4539	c.4478C>T	c.(4477-4479)gCt>gTt	p.A1493V	BPTF_uc002jge.3_Missense_Mutation_p.A1619V	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	1619					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex|cytoplasm	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TCTTCAGATGCTGAAGGTAAC	0.433000												
LTBP1	4052	broad.mit.edu	37	2	33540323	33540323	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:33540323C>T	uc021vft.1	+	23	3740	c.3717C>T	c.(3715-3717)ggC>ggT	p.G1239G	LTBP1_uc002rou.3_Silent_p.G913G|LTBP1_uc002rov.3_Silent_p.G860G|LTBP1_uc010ymz.2_Silent_p.G913G|LTBP1_uc010yna.2_Silent_p.G860G|LTBP1_uc010ynb.2_Silent_p.G179G	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	1239	EGF-like 12; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CTGCAGATGGCCGTACGTGTG	0.448000												
BRD7	29117	broad.mit.edu	37	16	50388806	50388806	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:50388806G>A	uc021thx.1	-	2	446	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W	BRD7_uc002ege.2_Missense_Mutation_p.R96W	NM_013263	NP_037395	Q9NPI1	BRD7_HUMAN	Homo sapiens bromodomain containing 7 (BRD7), transcript variant 2, mRNA.	96				R -> Q (in Ref. 1; AAF19526).	Wnt receptor signaling pathway|cell cycle|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				TTCTCCACCCGGTCTCGATCT	0.398000												
KMO	8564	broad.mit.edu	37	1	241695795	241695795	+	Silent	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:241695795C>A	uc009xgp.3	+	0	362	c.51C>A	c.(49-51)ggC>ggA	p.G17G	KMO_uc001hyy.3_Silent_p.G57G|KMO_uc009xgo.2_Silent_p.G57G	NM_003679	NP_003670	O15229	KMO_HUMAN	Homo sapiens kynurenine 3-monooxygenase (kynurenine 3-hydroxylase) (KMO), mRNA.	17					pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	NAD(P)H oxidase activity|electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity	p.G17G(2)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			TTGGTGGTGGCTTGGTAAGAA	0.328000												
SLC22A4	6583	broad.mit.edu	37	5	131647916	131647916	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:131647916C>T	uc003kwq.3	+	1	621	c.456C>T	c.(454-456)ggC>ggT	p.G152G	SLC22A4_uc010jdq.1_Non-coding_Transcript|LOC553103_uc021ydj.1_Non-coding_Transcript	NM_003059	NP_003050	Q9H015	S22A4_HUMAN	Homo sapiens solute carrier family 22 (organic cation/ergothioneine transporter), member 4 (SLC22A4), mRNA.	152					body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|PDZ domain binding|carnitine transporter activity|cation:cation antiporter activity|secondary active organic cation transmembrane transporter activity|symporter activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	TCTTCGTAGGCGTGCTCCTCG	0.587000												
OR6K6	128371	broad.mit.edu	37	1	158724726	158724726	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:158724726C>A	uc001fsw.1	+	0	121	c.121C>A	c.(121-123)Ctc>Atc	p.L41I		NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 6 (OR6K6), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					GACTGAGTTCCTCTTCTCTAT	0.423000												
ANGPT2	285	broad.mit.edu	37	8	6420295	6420295	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:6420295C>T	uc003wqj.4	-	0	490	c.161G>A	c.(160-162)cGc>cAc	p.R54H	MCPH1_uc003wqi.3_Intron|ANGPT2_uc003wqk.4_Missense_Mutation_p.R54H|ANGPT2_uc010lri.3_Missense_Mutation_p.R54H|ANGPT2_uc003wql.4_Missense_Mutation_p.R54H	NM_001147	NP_001138	O15123	ANGP2_HUMAN	Homo sapiens angiopoietin 2 (ANGPT2), transcript variant 1, mRNA.	54					Tie receptor signaling pathway|angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis	extracellular space	metal ion binding|receptor tyrosine kinase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		GGAGGAAGAGCGGCAGTTGTC	0.552000												
STAG3	10734	broad.mit.edu	37	7	99808640	99808640	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:99808640C>T	uc003utx.1	+	29	3400	c.3245C>T	c.(3244-3246)gCc>gTc	p.A1082V	STAG3_uc011kjk.1_Missense_Mutation_p.A1024V|GATS_uc010lgt.3_Intron|GATS_uc003uty.4_Intron|GATS_uc003utz.4_Intron|GATS_uc003uua.4_Intron|STAG3_uc003uub.1_Missense_Mutation_p.A306V	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN	Homo sapiens stromal antigen 3 (STAG3), mRNA.	1082					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCAGGGCCTGCCAAGCCTAAC	0.577000												
GOLGA4	2803	broad.mit.edu	37	3	37367797	37367797	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:37367797G>A	uc003cgv.3	+	13	4780	c.4420G>A	c.(4420-4422)Gct>Act	p.A1474T	GOLGA4_uc010hgr.2_Missense_Mutation_p.A1035T|GOLGA4_uc003cgw.3_Missense_Mutation_p.A1496T|GOLGA4_uc010hgs.3_Intron|GOLGA4_uc003cgx.3_Missense_Mutation_p.A1355T	NM_002078	NP_002069	Q13439	GOGA4_HUMAN	Homo sapiens golgin A4 (GOLGA4), transcript variant 2, mRNA.	1474	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						ATCAAAGGAAGCTTATGAAAA	0.338000												
MCRS1	10445	broad.mit.edu	37	12	49952676	49952676	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:49952676G>A	uc001rui.1	-	12	1291	c.1291C>T	c.(1291-1293)Ccg>Tcg	p.P431S	MCRS1_uc001ruj.2_Missense_Mutation_p.P405S|MCRS1_uc001ruk.1_Missense_Mutation_p.P418S|MCRS1_uc009zlj.1_Missense_Mutation_p.P227S	NM_001012300	NP_001012300	Q96EZ8	MCRS1_HUMAN	Homo sapiens microspherule protein 1 (MCRS1), transcript variant 2, mRNA.	418					DNA recombination|DNA repair|protein modification process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|MLL1 complex|cytoplasm|nucleolus	protein binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)	23						CAGAGCACCGGCCGTCCATCG	0.557000												
PLXNA4	91584	broad.mit.edu	37	7	132192896	132192896	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:132192896G>A	uc003vra.4	-	1	786	c.557C>T	c.(556-558)gCc>gTc	p.A186V	PLXNA4_uc003vrc.2_Missense_Mutation_p.A186V|PLXNA4_uc003vrb.3_Missense_Mutation_p.A186V	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	186	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CACTGCCGTGGCAATGAACAG	0.522000												
GRB10	2887	broad.mit.edu	37	7	50771543	50771543	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:50771543C>T	uc003tpi.2	-	1	160	c.114G>A	c.(112-114)caG>caA	p.Q38Q	GRB10_uc003tph.3_5'UTR|GRB10_uc003tpj.2_Silent_p.Q38Q|GRB10_uc003tpk.2_Silent_p.Q38Q|GRB10_uc010kzb.2_5'UTR|GRB10_uc003tpl.2_Silent_p.Q32Q|GRB10_uc003tpm.2_5'UTR	NM_005311	NP_005302	Q13322	GRB10_HUMAN	Homo sapiens growth factor receptor-bound protein 10 (GRB10), transcript variant 1, mRNA.	38					insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	SH3/SH2 adaptor activity|insulin receptor binding			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					GTCGGTCAGACTGTGCGGGGA	0.512000									Russell-Silver syndrome			
CELSR3	1951	broad.mit.edu	37	3	48678953	48678953	+	Silent	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:48678953C>A	uc003cuf.1	-	34	9123	c.9123G>T	c.(9121-9123)gtG>gtT	p.V3041V	CELSR3_uc010hkf.3_Silent_p.V233V|CELSR3_uc010hkg.3_Silent_p.V926V|CELSR3_uc003cul.3_Silent_p.V2943V	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	2943					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CATTGCCATCCACATCTGTGG	0.602000												
VGLL4	9686	broad.mit.edu	37	3	11643341	11643341	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:11643341C>T	uc010hdx.1	-	1	644	c.238G>A	c.(238-240)Gtc>Atc	p.V80I	VGLL4_uc003bwf.2_Missense_Mutation_p.V74I|VGLL4_uc003bwg.2_Missense_Mutation_p.V79I|VGLL4_uc011aun.1_Missense_Mutation_p.V15I	NM_001128219	NP_001121691	Q14135	VGLL4_HUMAN	Homo sapiens vestigial like 4 (Drosophila) (VGLL4), transcript variant 1, mRNA.	74					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)		ATTTTGGAGACGTGGTCGTTG	0.547000												
FAF2	23197	broad.mit.edu	37	5	175919216	175919216	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:175919216G>A	uc003mej.4	+	4	419	c.366G>A	c.(364-366)cgG>cgA	p.R122R		NM_014613	NP_055428	Q96CS3	FAF2_HUMAN	Homo sapiens Fas associated factor family member 2 (FAF2), mRNA.	122					response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding			breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						GTTTTATACGGCCTGACCCTC	0.478000												
COL4A2	1284	broad.mit.edu	37	13	111130478	111130478	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:111130478C>T	uc001vqx.3	+	29	2843	c.2554C>T	c.(2554-2556)Ccc>Tcc	p.P852S		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	852	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CCAAGAGGGGCCCTTGGGGCT	0.642000												
RYR3	6263	broad.mit.edu	37	15	34072492	34072492	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:34072492G>A	uc001zhi.3	+	64	9288	c.9218G>A	c.(9217-9219)cGc>cAc	p.R3073H	RYR3_uc010bar.3_Missense_Mutation_p.R3073H	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	3073					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.R3073C(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ACCCTTAATCGCTACAATCCA	0.532000												
ANXA6	309	broad.mit.edu	37	5	150509077	150509077	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:150509077C>T	uc003ltl.2	-	11	1037	c.809G>A	c.(808-810)cGg>cAg	p.R270Q	ANXA6_uc011dcp.2_Missense_Mutation_p.R238Q|ANXA6_uc003lto.2_Intron	NM_001155	NP_001180473	P08133	ANXA6_HUMAN	Homo sapiens annexin A6 (ANXA6), transcript variant 1, mRNA.	270						melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGTGTTGTCCCGAGTCCCCAG	0.527000												
MTR	4548	broad.mit.edu	37	1	237054573	237054573	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:237054573G>A	uc001hyi.4	+	28	3571	c.3148G>A	c.(3148-3150)Gct>Act	p.A1050T	MTR_uc010pxw.2_Missense_Mutation_p.A643T|MTR_uc010pxx.2_Missense_Mutation_p.A999T|MTR_uc010pxy.2_Missense_Mutation_p.A904T	NM_000254	NP_000245	Q99707	METH_HUMAN	Homo sapiens 5-methyltetrahydrofolate-homocysteine methyltransferase (MTR), mRNA.	1050	AdoMet activation.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	GTACGCAGAGGCTGCTGTGCC	0.557000												
TSSC1	7260	broad.mit.edu	37	2	3197897	3197897	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:3197897G>A	uc002qxj.2	-	6	887	c.694C>T	c.(694-696)Cgg>Tgg	p.R232W	TSSC1_uc002qxi.2_Non-coding_Transcript	NM_003310	NP_003301	Q53HC9	TSSC1_HUMAN	Homo sapiens tumor suppressing subtransferable candidate 1 (TSSC1), mRNA.	232							protein binding	p.R232G(2)		breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		TCAAGGTCCCGCACCAGCTGT	0.502000												
OR2F1	26211	broad.mit.edu	37	7	143657808	143657808	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:143657808G>A	uc003wds.1	+	0	789	c.745G>A	c.(745-747)Gcc>Acc	p.A249T		NM_012369	NP_036501	Q13607	OR2F1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 1 (OR2F1), mRNA.	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					CACAGTGGTTGCCCTGTGCTA	0.478000												
C1orf135	79000	broad.mit.edu	37	1	26161648	26161648	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:26161648C>T	uc001bkw.1	-	2	910	c.910G>A	c.(910-912)Gct>Act	p.A304T		NM_024037	NP_076942	Q9H7T9	CA135_HUMAN	Homo sapiens chromosome 1 open reading frame 135 (C1orf135), mRNA.	304										NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00521)|all_lung(284;0.00764)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.117)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.28e-25)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000787)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.015)|READ - Rectum adenocarcinoma(331;0.0649)		TGAAAAGGAGCTCTAGTGTTG	0.473000												
CLTC	1213	broad.mit.edu	37	17	57743595	57743595	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:57743595G>A	uc002ixr.1	+	10	2231	c.1788G>A	c.(1786-1788)gcG>gcA	p.A596A	CLTC_uc002ixp.3_Silent_p.A592A|CLTC_uc002ixq.1_Silent_p.A592A	NM_004859	NP_004850	Q00610	CLH1_HUMAN	Homo sapiens clathrin, heavy chain (Hc) (CLTC), mRNA.	592	Distal segment.|Heavy chain arm.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TTATGCATGCGCCTCAAGTAT	0.433000			T	"""ALK, TFE3"""	"""ALCL, renal """							
PCYOX1L	78991	broad.mit.edu	37	5	148745609	148745609	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:148745609C>T	uc003lqk.2	+	3	637	c.575C>T	c.(574-576)gCt>gTt	p.A192V	PCYOX1L_uc003lql.2_Missense_Mutation_p.A175V|PCYOX1L_uc010jgz.2_Intron|PCYOX1L_uc003lqm.2_Missense_Mutation_p.A74V|PCYOX1L_uc003lqn.2_Missense_Mutation_p.A102V	NM_024028	NP_076933	Q8NBM8	PCYXL_HUMAN	Homo sapiens prenylcysteine oxidase 1 like (PCYOX1L), mRNA.	192					prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACTCTGTGGCTGAGTCCCTG	0.592000												
CXXC5	51523	broad.mit.edu	37	5	139060723	139060723	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:139060723G>A	uc010jfg.1	+	1	905	c.615G>A	c.(613-615)caG>caA	p.Q205Q	CXXC5_uc003let.2_Silent_p.Q205Q	NM_016463	NP_057547	Q7LFL8	CXXC5_HUMAN	Homo sapiens CXXC finger protein 5 (CXXC5), mRNA.	205					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|nucleus	DNA binding|signal transducer activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAATGGCCAGTCCGACTTCC	0.652000												
CDH10	1008	broad.mit.edu	37	5	24505247	24505247	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:24505247T>A	uc003jgr.2	-	7	1873	c.1367A>T	c.(1366-1368)aAt>aTt	p.N456I	CDH10_uc011cnu.2_Intron	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	456	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AACAGTAAGATTATGCCACTG	0.308000										HNSCC(23;0.051)		
CLP1	10978	broad.mit.edu	37	11	57428850	57428850	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:57428850G>A	uc001nkw.3	+	2	1359	c.1220G>A	c.(1219-1221)cGc>cAc	p.R407H	CLP1_uc010rjw.2_Missense_Mutation_p.R343H|CLP1_uc009yml.3_Missense_Mutation_p.R407H	NM_006831	NP_006822	Q92989	CLP1_HUMAN	Homo sapiens CLP1, cleavage and polyadenylation factor I subunit, homolog (S. cerevisiae) (CLP1), transcript variant 1, mRNA.	407					mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|siRNA loading onto RISC involved in RNA interference|tRNA splicing, via endonucleolytic cleavage and ligation|targeting of mRNA for destruction involved in RNA interference|termination of RNA polymerase II transcription	nucleoplasm|tRNA-intron endonuclease complex	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|ATP-dependent polyribonucleotide 5'-hydroxyl-kinase activity	p.R407C(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|stomach(1)	15						CCAGCCCCTCGCCCACTGCCT	0.517000												
OR1G1	8390	broad.mit.edu	37	17	3030350	3030350	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:3030350G>A	uc002fvc.1	-	0	496	c.496C>T	c.(496-498)Ctg>Ttg	p.L166L		NM_003555	NP_003546	P47890	OR1G1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily G, member 1 (OR1G1), mRNA.	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						CAGAAGGACAGGCTGTTCATC	0.522000												
TBCK	93627	broad.mit.edu	37	4	107154146	107154146	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:107154146G>A	uc010ilv.2	-	16	1953	c.1588C>T	c.(1588-1590)Cgt>Tgt	p.R530C	TBCK_uc003hyb.2_Missense_Mutation_p.R273C|TBCK_uc003hye.2_Missense_Mutation_p.R491C|TBCK_uc003hyc.2_Missense_Mutation_p.R467C|TBCK_uc003hyd.2_Missense_Mutation_p.R358C|TBCK_uc003hyf.2_Missense_Mutation_p.R530C	NM_001163435	NP_001156908	Q8TEA7	TBCK_HUMAN	Homo sapiens TBC1 domain containing kinase (TBCK), transcript variant 1, mRNA.	530	Rab-GAP TBC.					intracellular	Rab GTPase activator activity	p.R530C(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						TTTAATACACGCCTAAATTTT	0.368000												
RP1L1	94137	broad.mit.edu	37	8	10480525	10480525	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:10480525C>T	uc003wtc.3	-	1	416	c.187G>A	c.(187-189)Gcc>Acc	p.A63T		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	63					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TCCATGAGGGCGCTGAAGGTC	0.652000												
ASCC3	10973	broad.mit.edu	37	6	101215064	101215064	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:101215064C>T	uc003pqk.3	-	8	1882	c.1553G>A	c.(1552-1554)cGc>cAc	p.R518H	ASCC3_uc011eai.1_Missense_Mutation_p.R420H|ASCC3_uc003pql.3_Missense_Mutation_p.R518H	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	Homo sapiens activating signal cointegrator 1 complex subunit 3 (ASCC3), transcript variant 1, mRNA.	518	Helicase ATP-binding 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		AAAATGTTGGCGAATTTCATG	0.348000												
TLK2	11011	broad.mit.edu	37	17	60673966	60673966	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:60673966G>A	uc010ddp.3	+	17	1815	c.1547G>A	c.(1546-1548)cGg>cAg	p.R516Q	TLK2_uc002izx.4_Missense_Mutation_p.R342Q|TLK2_uc002izz.4_Missense_Mutation_p.R494Q|TLK2_uc002jaa.4_Missense_Mutation_p.R462Q|TLK2_uc010wpd.2_Missense_Mutation_p.R462Q	NM_006852	NP_006843	Q86UE8	TLK2_HUMAN	Homo sapiens tousled-like kinase 2 (TLK2), transcript variant A, mRNA.	516	Protein kinase.				cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						AGGGAATACCGGATTCATAAA	0.378000												
TM9SF2	9375	broad.mit.edu	37	13	100204534	100204534	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:100204534C>T	uc001voj.1	+	12	1575	c.1442C>T	c.(1441-1443)tCt>tTt	p.S481F	TM9SF2_uc010afz.1_Missense_Mutation_p.S316F	NM_004800	NP_004791	Q99805	TM9S2_HUMAN	Homo sapiens transmembrane 9 superfamily member 2 (TM9SF2), mRNA.	481					transport	endosome membrane|integral to plasma membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					TTCTGCATATCTGTGCCTCTG	0.393000												
RGL3	57139	broad.mit.edu	37	19	11505125	11505125	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:11505125G>A	uc002mro.2	-	18	2168	c.2104C>T	c.(2104-2106)Cgg>Tgg	p.R702W	RGL3_uc002mrn.2_Intron|RGL3_uc002mrm.2_Intron|RGL3_uc002mrp.2_Missense_Mutation_p.R696W	NM_001161616	NP_001155088	Q3MIN7	RGL3_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 3 (RGL3), transcript variant 1, mRNA.	696	Interaction with HRAS, MRAS and RIT1 (By similarity).				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular				breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						TCTTTCCGCCGCAGCATGAAG	0.572000												
ARHGAP20	57569	broad.mit.edu	37	11	110477373	110477373	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:110477373C>A	uc001pkz.1	-	9	1161	c.876G>T	c.(874-876)gaG>gaT	p.E292D	ARHGAP20_uc001pky.1_Missense_Mutation_p.E269D|ARHGAP20_uc009yyb.1_Missense_Mutation_p.E256D|ARHGAP20_uc001pla.1_Missense_Mutation_p.E256D	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN	Homo sapiens Rho GTPase activating protein 20 (ARHGAP20), mRNA.	292	Ras-associating.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		TAAGGAAGGGCTCCTGGAGGT	0.542000												
SALL4	57167	broad.mit.edu	37	20	50408840	50408840	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:50408840G>A	uc002xwh.4	-	1	283	c.182C>T	c.(181-183)gCc>gTc	p.A61V	SALL4_uc010gii.3_Missense_Mutation_p.A61V|SALL4_uc002xwi.4_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.	61					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTTTACTGTGGCTTCATCCTC	0.502000												
GC	2638	broad.mit.edu	37	4	72631188	72631188	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:72631188C>T	uc010iif.3	-	4	586	c.491G>A	c.(490-492)tGt>tAt	p.C164Y	GC_uc003hge.3_Missense_Mutation_p.C145Y|GC_uc021xpb.1_Missense_Mutation_p.C145Y	NM_001204307	NP_001191236	P02774	VTDB_HUMAN	Homo sapiens group-specific component (vitamin D binding protein) (GC), transcript variant 3, mRNA.	145	Albumin 1.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	GAACGCCTCACAGATTTCATC	0.443000												
AMOTL1	154810	broad.mit.edu	37	11	94599243	94599243	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:94599243G>A	uc001pfb.3	+	10	2568	c.2398G>A	c.(2398-2400)Gct>Act	p.A800T	AMOTL1_uc001pfc.3_Missense_Mutation_p.A750T	NM_130847	NP_570899	Q8IY63	AMOL1_HUMAN	Homo sapiens angiomotin like 1 (AMOTL1), mRNA.	800						cytoplasm|tight junction	identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				CATAGCAGCAGCTACTGGGAC	0.567000												
POU4F1	5457	broad.mit.edu	37	13	79175910	79175910	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:79175910G>A	uc001vkv.3	-	1	1134	c.900C>T	c.(898-900)ggC>ggT	p.G300G	BX647243_uc001vku.1_Intron	NM_006237	NP_006228	Q01851	PO4F1_HUMAN	Homo sapiens POU class 4 homeobox 1 (POU4F1), mRNA.	300	POU-specific.				axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)	16		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)		GTGAGCCCACGCCCGGGATCT	0.662000												
TRIOBP	11078	broad.mit.edu	37	22	38119860	38119860	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:38119860G>A	uc003atr.3	+	6	1568	c.1297G>A	c.(1297-1299)Gcc>Acc	p.A433T	TRIOBP_uc003atu.3_Missense_Mutation_p.A261T|TRIOBP_uc003atq.1_Missense_Mutation_p.A433T|TRIOBP_uc003ats.1_Missense_Mutation_p.A261T	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	433					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AACATCCTGCGCCCAGCGGGA	0.582000												
MTMR1	8776	broad.mit.edu	37	X	149901140	149901140	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:149901140G>A	uc004feh.1	+	9	1153	c.1018G>A	c.(1018-1020)Gca>Aca	p.A340T	MTMR1_uc011mya.1_Missense_Mutation_p.A238T|MTMR1_uc004feg.1_Missense_Mutation_p.A332T|MTMR1_uc004fei.3_Missense_Mutation_p.A332T|MTMR1_uc004fej.3_Non-coding_Transcript|MTMR1_uc010ntf.3_Non-coding_Transcript	NM_003828	NP_003819	Q13613	MTMR1_HUMAN	Homo sapiens myotubularin related protein 1 (MTMR1), mRNA.	332	Myotubularin phosphatase.					plasma membrane	protein tyrosine phosphatase activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GGATGCTAACGCACAGTCACA	0.423000												
PTPRN2	5799	broad.mit.edu	37	7	157369425	157369425	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:157369425C>T	uc003wno.3	-	18	2784	c.2663G>A	c.(2662-2664)aGg>aAg	p.R888K	PTPRN2_uc003wnp.3_Missense_Mutation_p.R871K|PTPRN2_uc003wnq.3_Missense_Mutation_p.R859K|PTPRN2_uc003wnr.3_Missense_Mutation_p.R850K|PTPRN2_uc011kwa.2_Missense_Mutation_p.R911K|MIR153-2_uc011kwb.1_5'Flank	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	888	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		ATAGAAGCTCCTCACCAGGAA	0.582000												
DDX31	64794	broad.mit.edu	37	9	135487616	135487616	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:135487616C>T	uc004cbq.1	-	18	2319	c.2167G>A	c.(2167-2169)Gcc>Acc	p.A723T	DDX31_uc010mzu.1_Missense_Mutation_p.A650T	NM_022779	NP_073616	Q9H8H2	DDX31_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 31 (DDX31), transcript variant 1, mRNA.	723						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		GGGTAGGTGGCGTAGGCTTGG	0.587000												
OR3A3	8392	broad.mit.edu	37	17	3324325	3324325	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:3324325C>A	uc010vrd.2	+	0	464	c.464C>A	c.(463-465)gCt>gAt	p.A155D		NM_012373	NP_036505	P47888	OR3A3_HUMAN	Homo sapiens olfactory receptor, family 3, subfamily A, member 3 (OR3A3), mRNA.	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)	9						ATGTTGGTGGCTGCGTCCTGG	0.587000												
CLDN1	9076	broad.mit.edu	37	3	190030679	190030679	+	Missense_Mutation	SNP	C	C	T	rs140846629	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:190030679C>T	uc003fsh.3	-	1	610	c.370G>A	c.(370-372)Gcg>Acg	p.A124T		NM_021101	NP_066924	O95832	CLD1_HUMAN	Homo sapiens claudin 1 (CLDN1), mRNA.	124					calcium-independent cell-cell adhesion|interspecies interaction between organisms	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity			lung(9)	9	all_cancers(143;2.95e-10)|Ovarian(172;0.0512)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.015)		AGAAATATCGCACCCCCAATG	0.458000												
RGS12	6002	broad.mit.edu	37	4	3318578	3318578	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:3318578C>T	uc003ggw.3	+	1	1585	c.681C>T	c.(679-681)aaC>aaT	p.N227N	RGS12_uc003ggu.2_Silent_p.N227N|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_Non-coding_Transcript|RGS12_uc003ggv.3_Silent_p.N227N|RGS12_uc003ggx.1_Silent_p.N227N	NM_198229	NP_937872	O14924	RGS12_HUMAN	Homo sapiens regulator of G-protein signaling 12 (RGS12), transcript variant 1, mRNA.	227						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GTATTTTAAACGTGGCGATGA	0.468000												
SDHA	6389	broad.mit.edu	37	5	226056	226056	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:226056C>T	uc011clv.1	+	4	630	c.515C>T	c.(514-516)gCa>gTa	p.A172V	SDHA_uc003jao.4_Missense_Mutation_p.A172V|SDHA_uc011clw.2_Missense_Mutation_p.A124V|SDHA_uc003jaq.4_5'Flank|SDHA_uc021xvu.1_5'Flank	NM_004168	NP_004159	P31040	DHSA_HUMAN	Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein (Fp) (SDHA), nuclear gene encoding mitochondrial protein, mRNA.	172					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	TATCAGCGTGCATTTGGTGGA	0.463000									Familial Paragangliomas			
PSMD5	5711	broad.mit.edu	37	9	123594201	123594201	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:123594201G>A	uc004bko.3	-	2	360	c.341C>T	c.(340-342)tCt>tTt	p.S114F	PSMD5_uc011lye.2_Missense_Mutation_p.S114F	NM_005047	NP_005038	Q16401	PSMD5_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 5 (PSMD5), mRNA.	114					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	proteasome complex	protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)	10						AACAGCATCAGAATTTTCAAC	0.348000												
MUC16	94025	broad.mit.edu	37	19	9070335	9070335	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:9070335G>T	uc002mkp.3	-	2	17315	c.17111C>A	c.(17110-17112)aCt>aAt	p.T5704N		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5706	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						TGTGTGCGCAGTGTCTTTGTA	0.502000												
MCM10	55388	broad.mit.edu	37	10	13213246	13213246	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:13213246C>T	uc001ima.3	+	2	460	c.332C>T	c.(331-333)aCg>aTg	p.T111M	MCM10_uc001imb.3_Missense_Mutation_p.T111M|MCM10_uc001imc.3_Missense_Mutation_p.T111M	NM_182751	NP_877428	Q7L590	MCM10_HUMAN	Homo sapiens minichromosome maintenance complex component 10 (MCM10), transcript variant 1, mRNA.	111					DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|cell cycle checkpoint	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						CGAGAGAAAACGAATGAAGAG	0.448000												
RND3	390	broad.mit.edu	37	2	151326517	151326517	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:151326517C>A	uc002txg.3	-	5	904	c.719G>T	c.(718-720)aGc>aTc	p.S240I	RND3_uc002txe.3_Missense_Mutation_p.S240I|RND3_uc010zbv.2_Missense_Mutation_p.A123S	NM_005168	NP_005159	P61587	RND3_HUMAN	Homo sapiens Rho family GTPase 3 (RND3), transcript variant 2, mRNA.	240					actin cytoskeleton organization|cell adhesion|small GTPase mediated signal transduction	Golgi membrane	GTP binding|GTPase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.106)		CACAGTGCAGCTCTTCGCTTT	0.418000												
IQGAP2	10788	broad.mit.edu	37	5	75893291	75893291	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:75893291C>T	uc003kek.3	+	9	1157	c.935C>T	c.(934-936)gCt>gTt	p.A312V		NM_006633	NP_006624	Q13576	IQGA2_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 2 (IQGAP2), mRNA.	312					small GTPase mediated signal transduction	actin cytoskeleton	GTPase inhibitor activity|Ras GTPase activator activity|actin binding|calmodulin binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		CATATCAATGCTGTCATTCCG	0.532000												
ANKS1A	23294	broad.mit.edu	37	6	34949512	34949512	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:34949512C>T	uc003ojx.4	+	3	623	c.481C>T	c.(481-483)Cac>Tac	p.H161Y	ANKS1A_uc011dst.2_5'UTR|ANKS1A_uc010jvp.2_5'UTR|ANKS1A_uc010jvr.1_Non-coding_Transcript	NM_015245	NP_056060	Q92625	ANS1A_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1A (ANKS1A), mRNA.	161						cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GCAGTATGGCCACACAGAGGT	0.547000												
TMEM177	80775	broad.mit.edu	37	2	120439194	120439194	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:120439194G>A	uc021vnk.1	+	0	765	c.765G>A	c.(763-765)tcG>tcA	p.S255S	TMEM177_uc002tme.2_Intron|TMEM177_uc010flg.1_Silent_p.S255S|TMEM177_uc002tmc.1_Silent_p.S255S|TMEM177_uc002tmd.2_Silent_p.S255S|TMEM177_uc010flh.3_Intron	NM_030577	NP_085054	Q53S58	TM177_HUMAN	Homo sapiens transmembrane protein 177 (TMEM177), transcript variant 2, mRNA.	255						integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					AGCTTCTGTCGGGCAACCTGG	0.587000												
KIAA1199	57214	broad.mit.edu	37	15	81173308	81173308	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:81173308G>A	uc002bfw.1	+	4	708	c.448G>A	c.(448-450)Gct>Act	p.A150T	KIAA1199_uc010unn.1_Missense_Mutation_p.A150T	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	Homo sapiens KIAA1199 (KIAA1199), mRNA.	150	G8.									breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TAAAGGAGGCGCTCTTGAGTT	0.493000												
TACC2	10579	broad.mit.edu	37	10	123846012	123846012	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:123846012C>T	uc001lfv.3	+	3	4357	c.3997C>T	c.(3997-3999)Cca>Tca	p.P1333S	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.P1333S|TACC2_uc010qtv.2_Missense_Mutation_p.P1333S	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	1333						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)				GGACCGGATGCCACTTCTGGC	0.612000												
ZNF532	55205	broad.mit.edu	37	18	56587462	56587462	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:56587462A>T	uc010xeg.2	+	2	2140	c.1943A>T	c.(1942-1944)cAt>cTt	p.H648L	ZNF532_uc002lhp.3_Missense_Mutation_p.H646L|ZNF532_uc002lho.3_Missense_Mutation_p.H648L|ZNF532_uc002lhr.3_Missense_Mutation_p.H646L|ZNF532_uc002lhs.3_Missense_Mutation_p.H646L	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	Homo sapiens zinc finger protein 532 (ZNF532), mRNA.	648					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						ACGTGCAACCATTGTACAAAG	0.498000												
ODF2	4957	broad.mit.edu	37	9	131262457	131262457	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:131262457G>A	uc004bvc.3	+	20	2691	c.2605G>A	c.(2605-2607)Gcc>Acc	p.A869T	ODF2_uc004bvb.3_Missense_Mutation_p.A781T|ODF2_uc011mbd.2_Missense_Mutation_p.A805T|ODF2_uc011mbe.2_Missense_Mutation_p.A800T|ODF2_uc004bvd.4_Missense_Mutation_p.A805T|ODF2_uc004bvh.3_Missense_Mutation_p.A211T	NM_153435	NP_702913	Q5BJF6	ODFP2_HUMAN	Homo sapiens outer dense fiber of sperm tails 2 (ODF2), transcript variant 1, mRNA.	805					G2/M transition of mitotic cell cycle|cell differentiation|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity	p.A781T(1)		autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						ATCATCATACGCCAACGTGTT	0.577000												
CUL2	8453	broad.mit.edu	37	10	35317808	35317808	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:35317808G>T	uc010qer.2	-	15	1708	c.1604C>A	c.(1603-1605)gCg>gAg	p.A535E	CUL2_uc021ppa.1_Missense_Mutation_p.A529E|CUL2_uc009xma.3_Missense_Mutation_p.A385E|CUL2_uc001ixv.3_Missense_Mutation_p.A516E|CUL2_uc001ixw.3_Missense_Mutation_p.A516E|CUL2_uc010qes.2_Missense_Mutation_p.A453E	NM_001198778	NP_001185707	Q13617	CUL2_HUMAN	Homo sapiens cullin 2 (CUL2), transcript variant 1, mRNA.	516					G1/S transition of mitotic cell cycle|cell cycle arrest|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						AAGAGGCCACGCACCAGCCTA	0.318000												
DEDD2	162989	broad.mit.edu	37	19	42703764	42703764	+	Silent	SNP	G	G	A	rs17852469	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:42703764G>A	uc002osu.1	-	4	875	c.807C>T	c.(805-807)ggC>ggT	p.G269G	DEDD2_uc002osv.1_Non-coding_Transcript|DEDD2_uc002osw.1_Silent_p.G264G	NM_133328	NP_579874	Q8WXF8	DEDD2_HUMAN	Homo sapiens death effector domain containing 2 (DEDD2), mRNA.	269					RNA processing|activation of pro-apoptotic gene products|apoptotic nuclear change|cellular homeostasis|induction of apoptosis via death domain receptors|intracellular signal transduction|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	nucleolus	DNA binding|receptor signaling complex scaffold activity			endometrium(1)|large_intestine(1)|ovary(1)|prostate(2)	5		Prostate(69;0.0704)				GCAGCAGGGCGCCACTCAGGT	0.647000												
KIAA1109	84162	broad.mit.edu	37	4	123161120	123161120	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:123161120A>G	uc003ieh.3	+	26	4328	c.4283A>G	c.(4282-4284)tAc>tGc	p.Y1428C	KIAA1109_uc003iei.1_Missense_Mutation_p.Y1181C|KIAA1109_uc010ins.1_Missense_Mutation_p.Y771C|KIAA1109_uc003iek.2_Missense_Mutation_p.Y47C	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	1428					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CAGATTGACTACAGTAGGGGT	0.443000												
FANCL	55120	broad.mit.edu	37	2	58459193	58459193	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:58459193C>T	uc002rzx.4	-	1	218	c.151G>A	c.(151-153)Gca>Aca	p.A51T	FANCL_uc002rzw.4_Missense_Mutation_p.A51T|FANCL_uc010fce.3_Missense_Mutation_p.A51T|FANCL_uc010fcf.1_Intron	NM_001114636	NP_001108108	Q9NW38	FANCL_HUMAN	Homo sapiens Fanconi anemia, complementation group L (FANCL), transcript variant 1, mRNA.	51					DNA repair	cytoplasm|nucleoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(2)	8						TATCACCTTGCATTCTTCAGT	0.363000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia			
LCTL	197021	broad.mit.edu	37	15	66844070	66844070	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:66844070C>T	uc002aqc.3	-	10	1586	c.1454G>A	c.(1453-1455)cGc>cAc	p.R485H	LCTL_uc002aqd.4_Missense_Mutation_p.R312H|LCTL_uc010bhw.3_Intron	NM_207338	NP_997221	Q6UWM7	LCTL_HUMAN	Homo sapiens lactase-like (LCTL), mRNA.	485					carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTTTGGATAGCGAGGCTTATT	0.373000												
TSKU	25987	broad.mit.edu	37	11	76507476	76507476	+	Silent	SNP	T	T	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:76507476T>G	uc021qno.1	+	0	816	c.816T>G	c.(814-816)gcT>gcG	p.A272A	TSKU_uc001oxt.3_Silent_p.A272A	NM_015516	NP_056331	Q8WUA8	TSK_HUMAN	Homo sapiens tsukushi small leucine rich proteoglycan homolog (Xenopus laevis) (TSKU), mRNA.	272						extracellular region				NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12	Ovarian(111;0.112)					GGGCAGGAGCTGAGGTGTTTT	0.667000												
PRR21	643905	broad.mit.edu	37	2	240981392	240981392	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:240981392G>A	uc010zod.2	-	0	1008	c.1008C>T	c.(1006-1008)atC>atT	p.I336I		NM_001080835	NP_001074304	Q8WXC7	PRR21_HUMAN	Homo sapiens proline rich 21 (PRR21), mRNA.	336										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(5)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	29						AAGAGGCATGGATGAAGGGCC	0.582000												
THOC7	80145	broad.mit.edu	37	3	63825403	63825403	+	Silent	SNP	T	T	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:63825403T>G	uc003dlt.4	-	1	197	c.66A>C	c.(64-66)ggA>ggC	p.G22G	C3orf49_uc003dls.4_Intron|THOC7_uc003dlu.4_Intron	NM_025075	NP_079351	Q6I9Y2	THOC7_HUMAN	Homo sapiens THO complex 7 homolog (Drosophila) (THOC7), mRNA.	22					RNA splicing|intronless viral mRNA export from host nucleus|mRNA processing	THO complex part of transcription export complex|cytoplasm	RNA binding|protein binding			central_nervous_system(1)|large_intestine(1)|ovary(1)|pancreas(1)	4				BRCA - Breast invasive adenocarcinoma(55;0.000439)|Kidney(15;0.00194)|KIRC - Kidney renal clear cell carcinoma(15;0.00218)		TCCGATCATCTCCAGCACCAT	0.438000												
OR6C3	254786	broad.mit.edu	37	12	55726283	55726283	+	Silent	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:55726283T>C	uc010spj.2	+	0	799	c.799T>C	c.(799-801)Ttg>Ctg	p.L267L		NM_054104	NP_473445	Q9NZP0	OR6C3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 3 (OR6C3), mRNA.	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						AAAGGCATCATTGACAAAAGG	0.383000												
COL1A2	1278	broad.mit.edu	37	7	94057646	94057646	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:94057646G>A	uc003ung.1	+	49	4039	c.3568G>A	c.(3568-3570)Gct>Act	p.A1190T	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	1190	Fibrillar collagen NC1.				Rho protein signal transduction|axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CACTATGGATGCTATCAAAGT	0.418000										HNSCC(75;0.22)		
TNKS	8658	broad.mit.edu	37	8	9605598	9605598	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:9605598C>T	uc003wss.3	+	17	2713	c.2708C>T	c.(2707-2709)gCg>gTg	p.A903V	TNKS_uc011kww.2_Missense_Mutation_p.A666V|TNKS_uc010lrt.1_Non-coding_Transcript	NM_003747	NP_003738	O95271	TNKS1_HUMAN	Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase (TNKS), mRNA.	903					Wnt receptor signaling pathway|mRNA transport|mitotic spindle organization|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport	Golgi membrane|chromosome, centromeric region|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		GATAAGTGGGCGTTTACTCCC	0.468000												
BPTF	2186	broad.mit.edu	37	17	65916176	65916176	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:65916176G>T	uc002jgf.3	+	12	5535	c.5474G>T	c.(5473-5475)aGa>aTa	p.R1825I	BPTF_uc002jge.3_Missense_Mutation_p.R1951I	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	1951					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex|cytoplasm	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			ATTAAGAGGAGAGATGTTGGT	0.328000												
CD93	22918	broad.mit.edu	37	20	23065010	23065010	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:23065010C>T	uc002wsv.3	-	0	1968	c.1820G>A	c.(1819-1821)cGc>cAc	p.R607H		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	Homo sapiens CD93 molecule (CD93), mRNA.	607					cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	p.R607H(2)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TCTCCGCTTGCGATAGACCAG	0.582000												
MYO7B	4648	broad.mit.edu	37	2	128394476	128394476	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:128394476C>T	uc002top.3	+	45	6290	c.6237C>T	c.(6235-6237)tgC>tgT	p.C2079C	MYO7B_uc002tos.2_Silent_p.C189C	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	2079	FERM 2.					apical plasma membrane|myosin complex	ATP binding|actin 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)		GCCTGCTGTGCGAGACCTCCC	0.612000												
CENPP	401541	broad.mit.edu	37	9	95142122	95142122	+	Missense_Mutation	SNP	G	G	A	rs112987350		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:95142122G>A	uc004arz.3	+	4	1085	c.545G>A	c.(544-546)cGc>cAc	p.R182H	CENPP_uc010mqx.3_Missense_Mutation_p.R70H	NM_001012267	NP_001012267	Q6IPU0	CENPP_HUMAN	Homo sapiens centromere protein P (CENPP), mRNA.	182					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	chromosome, centromeric region|cytosol|nucleoplasm		p.R182H(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(1)	16						TATCGTAAGCGCACGTTTAAA	0.343000												
CCNY	219771	broad.mit.edu	37	10	35842076	35842076	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:35842076T>C	uc001iyw.4	+	7	889	c.709T>C	c.(709-711)Tac>Cac	p.Y237H	CCNY_uc001iyu.4_Missense_Mutation_p.Y183H|CCNY_uc001iyv.4_Missense_Mutation_p.Y183H|CCNY_uc001iyx.4_Missense_Mutation_p.Y183H|CCNY_uc009xmb.3_Missense_Mutation_p.Y212H|CCNY_uc010qet.2_Missense_Mutation_p.Y104H	NM_145012	NP_859049	Q8ND76	CCNY_HUMAN	Homo sapiens cyclin Y (CCNY), transcript variant 1, mRNA.	237	Cyclin N-terminal.				G2/M transition of mitotic cell cycle|Wnt receptor signaling pathway|cell division|positive regulation of cyclin-dependent protein kinase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	cyclin-dependent protein kinase regulator activity|protein kinase binding			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	8						GAATGTGGATTACTGCCAGAT	0.527000												
CDK5RAP1	51654	broad.mit.edu	37	20	31954730	31954730	+	Silent	SNP	G	G	T	rs148992921		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:31954730G>T	uc010gek.3	-	12	1643	c.1519C>A	c.(1519-1521)Cga>Aga	p.R507R	CDK5RAP1_uc002wyy.3_Silent_p.R403R|CDK5RAP1_uc002wyz.3_Silent_p.R493R|CDK5RAP1_uc002wza.3_Silent_p.R492R|CDK5RAP1_uc010gel.3_Silent_p.R403R|CDK5RAP1_uc010gem.3_Silent_p.R416R|CDK5RAP1_uc002wzc.1_Silent_p.R493R|CDK5RAP1_uc002wzb.1_Silent_p.R128R	NM_016408	NP_057492	Q96SZ6	CK5P1_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 1 (CDK5RAP1), transcript variant 1, mRNA.	507	CDK5R1-binding.				brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						GCTTCTTCTCGGAAGATAGTG	0.433000												
CAMTA1	23261	broad.mit.edu	37	1	7700554	7700554	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:7700554A>C	uc001aoi.3	+	6	812	c.605A>C	c.(604-606)gAc>gCc	p.D202A		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	202					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	p.T201T(1)|p.D202N(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		ATCAACACCGACAAGAAGGAG	0.627000			T	WWTR1	epitheliod hemangioendothelioma							
SNRNP48	154007	broad.mit.edu	37	6	7606353	7606353	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:7606353G>T	uc003mxr.3	+	7	955	c.896G>T	c.(895-897)aGg>aTg	p.R299M	SNRNP48_uc003mxs.3_Non-coding_Transcript|SNRNP48_uc003mxt.1_Missense_Mutation_p.R51M	NM_152551	NP_689764	Q6IEG0	SNR48_HUMAN	Homo sapiens small nuclear ribonucleoprotein 48kDa (U11/U12) (SNRNP48), mRNA.	299	Arg-rich.				mRNA processing	U12-type spliceosomal complex|cytoplasm	metal ion binding			kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						AGAAGGGATAGGAGTAGAAGC	0.428000												
ARL5B	221079	broad.mit.edu	37	10	18957477	18957477	+	Silent	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:18957477T>C	uc001iqd.1	+	2	380	c.126T>C	c.(124-126)gtT>gtC	p.V42V		NM_178815	NP_848930	Q96KC2	ARL5B_HUMAN	Homo sapiens ADP-ribosylation factor-like 5B (ARL5B), mRNA.	42					small GTPase mediated signal transduction	intracellular	GTP binding			lung(1)|ovary(1)	2						ATGAAGTGGTTCATACTTCTC	0.358000												
NEUROD1	4760	broad.mit.edu	37	2	182542954	182542954	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:182542954C>T	uc021vto.1	-	0	634	c.634G>A	c.(634-636)Gct>Act	p.A212T	CERKL_uc021vtm.1_Intron|CERKL_uc002uod.2_Intron|NEUROD1_uc002uof.3_Missense_Mutation_p.A212T|NEUROD1_uc021vtn.1_Missense_Mutation_p.A212T	NM_002500	NP_002491	Q13562	NDF1_HUMAN	Homo sapiens neurogenic differentiation 1 (NEUROD1), mRNA.	212					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	E-box binding|chromatin binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			GGGAAGGAAGCGCTGGCCGTC	0.622000												
KBTBD6	89890	broad.mit.edu	37	13	41705170	41705170	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:41705170C>T	uc001uxu.1	-	0	1767	c.1478G>A	c.(1477-1479)cGc>cAc	p.R493H	AK056182_uc001uxv.1_5'Flank	NM_152903	NP_690867	Q86V97	KBTB6_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 6 (KBTBD6), mRNA.	493							protein binding			NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		ACAGAACATGCGCTTACTGTT	0.448000												
OLFML2A	169611	broad.mit.edu	37	9	127572560	127572560	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:127572560G>A	uc004bov.3	+	7	1941	c.1828G>A	c.(1828-1830)Gca>Aca	p.A610T	OLFML2A_uc004bow.3_Missense_Mutation_p.A396T	NM_182487	NP_872293	Q68BL7	OLM2A_HUMAN	Homo sapiens olfactomedin-like 2A (OLFML2A), mRNA.	610	Olfactomedin-like.									endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						GGGCACCGACGCACGCCCCCA	0.632000												
CARTPT	9607	broad.mit.edu	37	5	71016372	71016372	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:71016372C>T	uc003kbv.2	+	2	412	c.281C>T	c.(280-282)gCa>gTa	p.A94V		NM_004291	NP_004282	Q16568	CART_HUMAN	Homo sapiens CART prepropeptide (CARTPT), mRNA.	94					activation of MAPKK activity|adult feeding behavior|cellular glucose homeostasis|cellular response to starvation|circadian regulation of gene expression|negative regulation of appetite|negative regulation of bone resorption|negative regulation of osteoclast differentiation|neuropeptide signaling pathway|positive regulation of blood pressure|positive regulation of epinephrine secretion|positive regulation of transmission of nerve impulse|synaptic transmission	extracellular space				large_intestine(1)|lung(2)|ovary(1)	4		Lung NSC(167;0.00153)|Ovarian(174;0.0175)|Prostate(74;0.11)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;8.4e-56)	Amphetamine(DB00182)	AGGAAAGGGGCAAGGATCGGG	0.532000												
PCDHAC2	56134	broad.mit.edu	37	5	140250178	140250178	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:140250178G>A	uc003lia.2	+	0	2348	c.1490G>A	c.(1489-1491)cGg>cAg	p.R497Q	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc011dae.2_Missense_Mutation_p.R497Q	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	512	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.P496T(1)|p.R497Q(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGAGCGGCGGTTGGGCGAC	0.672000												
PUS10	150962	broad.mit.edu	37	2	61188644	61188644	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:61188644G>A	uc010fci.3	-	9	888	c.828C>T	c.(826-828)tgC>tgT	p.C276C	PUS10_uc002sao.3_Silent_p.C276C|PUS10_uc010ypk.2_Silent_p.C53C	NM_144709	NP_653310	Q3MIT2	PUS10_HUMAN	Homo sapiens pseudouridylate synthase 10 (PUS10), mRNA.	276					pseudouridine synthesis|tRNA processing		RNA binding|pseudouridine synthase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			CAAGAACAGCGCATACAGCCT	0.348000												
ROBO3	64221	broad.mit.edu	37	11	124749437	124749437	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:124749437G>T	uc001qbc.3	+	24	3931	c.3762G>T	c.(3760-3762)aaG>aaT	p.K1254N	ROBO3_uc001qbd.2_Missense_Mutation_p.K179N|ROBO3_uc010sar.2_Missense_Mutation_p.K303N|ROBO3_uc001qbe.3_Missense_Mutation_p.K179N|ROBO3_uc001qbf.1_Missense_Mutation_p.K138N	NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 3 (Drosophila) (ROBO3), mRNA.	1254					axon midline choice point recognition	integral to membrane	receptor activity	p.K1254N(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		AGAAACCCAAGGCTCTTCCCT	0.602000												
GRIPAP1	56850	broad.mit.edu	37	X	48832466	48832466	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:48832466C>T	uc004dly.1	-	23	2277	c.2242G>A	c.(2242-2244)Gcc>Acc	p.A748T		NM_020137	NP_064522	Q4V328	GRAP1_HUMAN	Homo sapiens GRIP1 associated protein 1 (GRIPAP1), transcript variant 1, mRNA.	748						early endosome				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						TCAATGATGGCGCTCTTCCGG	0.617000												
SLC12A5	57468	broad.mit.edu	37	20	44678261	44678261	+	Splice_Site	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:44678261G>A	uc010zxl.1	+	17	2158	c.2082_splice	c.e17-1	p.R694_splice	SLC12A5_uc010zxm.1_Splice_Site|SLC12A5_uc002xrb.2_Splice_Site_p.R671_splice	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	694					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)	CACTCTTCAGGCCACAGCTGC	0.552000												
SCN3A	6328	broad.mit.edu	37	2	165997321	165997321	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:165997321C>T	uc002ucx.3	-	12	2351	c.1859G>A	c.(1858-1860)cGa>cAa	p.R620Q	SCN3A_uc002ucy.3_Missense_Mutation_p.R620Q|SCN3A_uc002ucz.3_Missense_Mutation_p.R620Q|SCN3A_uc002uda.1_Missense_Mutation_p.R489Q|SCN3A_uc002udb.1_Missense_Mutation_p.R489Q	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	620						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R620Q(6)|p.R620*(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	ACTGTTGCGTCGCTCTCCATG	0.498000												
DUSP27	92235	broad.mit.edu	37	1	167096298	167096298	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:167096298G>A	uc001geb.1	+	4	1946	c.1930G>A	c.(1930-1932)Gca>Aca	p.A644T		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	644					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CCAGTCTATGGCAAGCTGGGA	0.642000												
MUC4	4585	broad.mit.edu	37	3	195508234	195508234	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:195508234G>A	uc021xjp.1	-	1	10373	c.10217C>T	c.(10216-10218)aCc>aTc	p.T3406I	MUC4_uc003fva.3_5'Flank|MUC4_uc003fvb.3_5'Flank|MUC4_uc003fvc.3_5'Flank|MUC4_uc003fvd.3_5'Flank|MUC4_uc003fve.3_5'Flank|MUC4_uc010hzr.3_5'Flank|MUC4_uc021xjm.1_5'Flank|MUC4_uc021xjn.1_5'Flank|MUC4_uc021xjo.1_5'Flank|MUC4_uc021xjg.1_5'Flank|MUC4_uc021xjh.1_5'Flank|MUC4_uc021xji.1_5'Flank|MUC4_uc021xjj.1_5'Flank|MUC4_uc021xjk.1_5'Flank|MUC4_uc021xjl.1_5'Flank|MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	180					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AAGAGGCATGGTGTCACCTGT	0.592000												
FAT4	79633	broad.mit.edu	37	4	126412402	126412402	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:126412402G>T	uc003ifj.4	+	16	14425	c.14425G>T	c.(14425-14427)Gac>Tac	p.D4809Y	FAT4_uc011cgp.2_Missense_Mutation_p.D3050Y|FAT4_uc003ifi.1_Missense_Mutation_p.D2286Y	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4809					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTGCAGTGCAGACCATGGGAG	0.512000												
MYH6	4624	broad.mit.edu	37	14	23862233	23862233	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:23862233G>A	uc001wjv.3	-	23	3210	c.3139C>T	c.(3139-3141)Cgc>Tgc	p.R1047C		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	1047					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		AGGTCCATGCGCACCTTCTTC	0.498000												
ENC1	8507	broad.mit.edu	37	5	73931937	73931937	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:73931937T>C	uc003kdc.4	-	1	1505	c.374A>G	c.(373-375)gAc>gGc	p.D125G	ENC1_uc011css.2_Missense_Mutation_p.D52G|ENC1_uc021yao.1_Missense_Mutation_p.D125G	NM_003633	NP_003624	O14682	ENC1_HUMAN	Homo sapiens ectodermal-neural cortex 1 (with BTB-like domain) (ENC1), mRNA.	125				INEENAESLLEAGDMLEFQ -> HQLEGKCRNSLLGSLVTC WSFK (in Ref. 1).	nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		CTCCAGCATGTCACCAGCTTC	0.527000												
IFT172	26160	broad.mit.edu	37	2	27684350	27684350	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:27684350T>C	uc002rku.3	-	21	2279	c.2228A>G	c.(2227-2229)tAc>tGc	p.Y743C		NM_015662	NP_056477	Q9UG01	IF172_HUMAN	Homo sapiens intraflagellar transport 172 homolog (Chlamydomonas) (IFT172), mRNA.	743					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					CCACTGGTAGTAACTACGACG	0.572000												
HOXD13	3239	broad.mit.edu	37	2	176958345	176958345	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:176958345T>C	uc002ukf.1	+	0	814	c.727T>C	c.(727-729)Tac>Cac	p.Y243H		NM_000523	NP_000514	P35453	HXD13_HUMAN	Homo sapiens homeobox D13 (HOXD13), mRNA.	243					skeletal system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)		CAGCCAGGTGTACTGCACCAA	0.612000			T	NUP98	AML*							
HNRNPK	3190	broad.mit.edu	37	9	86585141	86585141	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:86585141G>A	uc004ang.4	-	15	1521	c.1297C>T	c.(1297-1299)Cgg>Tgg	p.R433W	HNRNPK_uc011lsw.2_Missense_Mutation_p.R193W|HNRNPK_uc004and.4_Missense_Mutation_p.R193W|HNRNPK_uc004anf.4_Missense_Mutation_p.R433W|HNRNPK_uc004anh.4_Missense_Mutation_p.R409W|HNRNPK_uc011lsx.2_Missense_Mutation_p.R409W|HNRNPK_uc004anl.4_Missense_Mutation_p.R433W|HNRNPK_uc004anm.4_Missense_Mutation_p.R433W|MIR7-1_uc004ano.1_5'Flank	NM_031262	NP_112552	P61978	HNRPK_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein K (HNRNPK), transcript variant 3, mRNA.	433	KH 3.				interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	RNA binding|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|protein binding|single-stranded DNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						GTAATGATCCGATCTTCGGAT	0.413000												
ZNF624	57547	broad.mit.edu	37	17	16538059	16538059	+	Silent	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:16538059T>C	uc010cpi.2	-	3	257	c.165A>G	c.(163-165)acA>acG	p.T55T		NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN	Homo sapiens zinc finger protein 624 (ZNF624), mRNA.	55	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CATCCTTAAATGTCACCGATT	0.408000												
ZNF233	353355	broad.mit.edu	37	19	44778756	44778756	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:44778756A>G	uc021uvi.1	+	4	2049	c.1943A>G	c.(1942-1944)tAc>tGc	p.Y648C	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.3_Intron|ZNF233_uc002oyy.2_Missense_Mutation_p.Y463C|ZNF233_uc002oyz.2_Missense_Mutation_p.Y648C	NM_001207005	NP_001193934	A6NK53	ZN233_HUMAN	Homo sapiens zinc finger protein 233 (ZNF233), transcript variant 2, mRNA.	648					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				GAGAAACCATACAAATGTTTT	0.418000												
PDZRN4	29951	broad.mit.edu	37	12	41967300	41967300	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:41967300C>T	uc010skn.2	+	9	2727	c.2719C>T	c.(2719-2721)Cga>Tga	p.R907*	PDZRN4_uc001rmq.4_Nonsense_Mutation_p.R649*|PDZRN4_uc009zjz.3_Nonsense_Mutation_p.R647*|PDZRN4_uc001rmr.3_Nonsense_Mutation_p.R534*	NM_001164595	NP_001158067	Q6ZMN7	PZRN4_HUMAN	Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA.	907							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GAGACCCGTGCGAGACCGAAT	0.517000												
ZNF547	284306	broad.mit.edu	37	19	57889141	57889141	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:57889141G>T	uc002qol.3	+	3	1002	c.797G>T	c.(796-798)aGg>aTg	p.R266M		NM_173631	NP_775902	Q8IVP9	ZN547_HUMAN	Homo sapiens zinc finger protein 547 (ZNF547), mRNA.	266					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ACTGGAAAGAGGCCTTATGGT	0.423000												
PCDH7	5099	broad.mit.edu	37	4	30723444	30723444	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:30723444C>T	uc003gsk.1	+	0	1408	c.400C>T	c.(400-402)Ctt>Ttt	p.L134F	PCDH7_uc011bxx.2_Missense_Mutation_p.L134F|PCDH7_uc021xnd.1_Missense_Mutation_p.L134F|PCDH7_uc021xnc.1_Missense_Mutation_p.L134F	NM_002589	NP_002580	O60245	PCDH7_HUMAN	Homo sapiens protocadherin 7 (PCDH7), transcript variant a, mRNA.	134	Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GGTCATCGTGCTTGACATCAA	0.612000												
SPIRE1	56907	broad.mit.edu	37	18	12506556	12506556	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:12506556G>A	uc002kre.3	-	5	939	c.892C>T	c.(892-894)Ccc>Tcc	p.P298S	SPIRE1_uc002krc.3_Non-coding_Transcript|SPIRE1_uc010wzw.2_Missense_Mutation_p.P178S|SPIRE1_uc010wzx.2_Missense_Mutation_p.P101S|SPIRE1_uc010wzy.2_Missense_Mutation_p.P298S	NM_001128626	NP_001122098	Q08AE8	SPIR1_HUMAN	Homo sapiens spire homolog 1 (Drosophila) (SPIRE1), transcript variant 1, mRNA.	298						cytoskeleton|perinuclear region of cytoplasm	actin binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						TATTCAATGGGCAAAGGGTTG	0.453000												
BMP15	9210	broad.mit.edu	37	X	50659440	50659440	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:50659440G>A	uc011mnw.2	+	1	1061	c.1012G>A	c.(1012-1014)Gcc>Acc	p.A338T		NM_005448	NP_005439	O95972	BMP15_HUMAN	Homo sapiens bone morphogenetic protein 15 (BMP15), mRNA.	338					female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					CCCCAATCACGCCATTATTCA	0.478000												
ARHGEF18	23370	broad.mit.edu	37	19	7509198	7509198	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:7509198G>A	uc002mgi.3	+	3	1158	c.905G>A	c.(904-906)cGc>cAc	p.R302H	ARHGEF18_uc010xjm.1_Missense_Mutation_p.R144H|ARHGEF18_uc002mgh.3_Missense_Mutation_p.R144H|ARHGEF18_uc002mgj.1_5'Flank	NM_001130955	NP_056133	Q6ZSZ5	ARHGI_HUMAN	Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 18 (ARHGEF18), transcript variant 2, mRNA.	302	DH.				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|regulation of cell shape|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				GCCATTGGCCGCCTCTTCCCA	0.647000												
DCAF12L1	139170	broad.mit.edu	37	X	125686328	125686328	+	Silent	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:125686328C>A	uc022cds.1	-	0	264	c.264G>T	c.(262-264)acG>acT	p.T88T	DCAF12L1_uc004eul.3_Silent_p.T88T	NM_178470	NP_848565	Q5VU92	DC121_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 1 (DCAF12L1), mRNA.	88										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						GTTGGCGCTCCGTCAGCAGCT	0.657000												
FMNL3	91010	broad.mit.edu	37	12	50043299	50043299	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:50043299G>A	uc001ruv.1	-	18	2492	c.2258C>T	c.(2257-2259)gCg>gTg	p.A753V	FMNL3_uc001ruw.1_Missense_Mutation_p.A702V|FMNL3_uc001rut.1_Missense_Mutation_p.A319V|FMNL3_uc001ruu.1_Missense_Mutation_p.A603V	NM_175736	NP_783863	Q8IVF7	FMNL3_HUMAN	Homo sapiens formin-like 3 (FMNL3), transcript variant 1, mRNA.	753	FH2.				actin cytoskeleton organization		Rho GTPase binding|actin binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						GGAAGCGGACGCCGCAATGAT	0.542000												
PPIP5K1	9677	broad.mit.edu	37	15	43826900	43826900	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:43826900G>A	uc001zrw.3	-	30	4478	c.4274C>T	c.(4273-4275)gCc>gTc	p.A1425V	PPIP5K1_uc021sjw.1_Missense_Mutation_p.A1400V|PPIP5K1_uc001zrx.2_Missense_Mutation_p.A1398V|PPIP5K1_uc001zry.4_Missense_Mutation_p.A1400V|PPIP5K1_uc021sjx.1_Missense_Mutation_p.A354V	NM_001130858	NP_001124330	Q6PFW1	VIP1_HUMAN	Homo sapiens diphosphoinositol pentakisphosphate kinase 1 (PPIP5K1), transcript variant 5, mRNA.	1425					inositol metabolic process	cytosol	ATP binding|acid phosphatase activity|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			large_intestine(1)	1						GACCTCCTGGGCCTGCAGATC	0.522000												
EFEMP1	2202	broad.mit.edu	37	2	56098194	56098194	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:56098194G>A	uc002rzi.3	-	9	1566	c.1065C>T	c.(1063-1065)ggC>ggT	p.G355G	EFEMP1_uc002rzj.3_Silent_p.G355G|EFEMP1_uc010ypc.2_Silent_p.G217G	NM_001039348	NP_001034438	Q12805	FBLN3_HUMAN	Homo sapiens EGF containing fibulin-like extracellular matrix protein 1 (EFEMP1), transcript variant 2, mRNA.	355	EGF-like 6; calcium-binding (Potential).|Mediates interaction with TIMP3.				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AACGGAAGCCGCCATGATAAT	0.388000												
PKP4	8502	broad.mit.edu	37	2	159526422	159526422	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:159526422C>T	uc002tzv.3	+	16	3179	c.2919C>T	c.(2917-2919)ggC>ggT	p.G973G	PKP4_uc002tzw.3_Silent_p.G973G|PKP4_uc002tzx.3_Silent_p.G630G|PKP4_uc002uaa.3_Silent_p.G825G|AK126351_uc002uab.1_Intron|PKP4_uc002uac.3_Silent_p.G154G|PKP4_uc002uae.1_Silent_p.G60G	NM_003628	NP_003619	Q99569	PKP4_HUMAN	Homo sapiens plakophilin 4 (PKP4), transcript variant 1, mRNA.	973					cell adhesion	desmosome	protein binding	p.G973G(2)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						AAGGCAGGGGCGACAGGCAAG	0.527000										HNSCC(62;0.18)		
C20orf112	140688	broad.mit.edu	37	20	31041289	31041289	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:31041289G>A	uc002wxu.4	-	4	740	c.583C>T	c.(583-585)Cgt>Tgt	p.R195C		NM_080616	NP_542183	Q96MY1	CT112_HUMAN	Homo sapiens chromosome 20 open reading frame 112 (C20orf112), mRNA.	195								p.R195C(2)		endometrium(3)|kidney(2)|large_intestine(5)|lung(5)	15						ACAAAGAGACGCACAAACATC	0.627000												
CSF1R	1436	broad.mit.edu	37	5	149459840	149459840	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:149459840C>T	uc003lrl.3	-	2	562	c.367G>A	c.(367-369)Gca>Aca	p.A123T	CSF1R_uc011dcd.2_5'UTR|CSF1R_uc010jhc.3_Non-coding_Transcript|CSF1R_uc003lrm.3_Missense_Mutation_p.A123T|CSF1R_uc011dce.1_Missense_Mutation_p.A123T|CSF1R_uc011dcf.2_Missense_Mutation_p.A123T	NM_005211	NP_005202	P07333	CSF1R_HUMAN	Homo sapiens colony stimulating factor 1 receptor (CSF1R), mRNA.	123	Ig-like C2-type 2.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity	p.A123T(3)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	GGCAGTAGTGCGTCCTGGTCC	0.642000												
GRIA3	2892	broad.mit.edu	37	X	122537363	122537363	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:122537363C>T	uc004etq.4	+	8	1578	c.1286C>T	c.(1285-1287)aCc>aTc	p.T429I	GRIA3_uc004etr.4_Missense_Mutation_p.T429I|GRIA3_uc004ets.4_Non-coding_Transcript|GRIA3_uc011muf.1_Missense_Mutation_p.T413I	NM_007325	NP_015564	P42263	GRIA3_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 3 (GRIA3), transcript variant 1, mRNA.	429					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)	GTAGTGACTACCATTCTGGTA	0.438000												
CHRNB3	1142	broad.mit.edu	37	8	42587066	42587066	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:42587066G>A	uc003xpi.1	+	4	744	c.616G>A	c.(616-618)Gca>Aca	p.A206T		NM_000749	NP_000740	Q05901	ACHB3_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 3 (CHRNB3), mRNA.	206					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			AATACTGAACGCAAAGGGGAT	0.453000												
NEUROD6	63974	broad.mit.edu	37	7	31378581	31378581	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:31378581G>A	uc003tch.3	-	1	655	c.302C>T	c.(301-303)gCg>gTg	p.A101V	NEUROD6_uc022abi.1_Missense_Mutation_p.A101V	NM_022728	NP_073565	Q96NK8	NDF6_HUMAN	Homo sapiens neurogenic differentiation 6 (NEUROD6), mRNA.	101					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.N100N(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						CCTCTCGCGCGCGTTCGCTTC	0.478000												
TNIP2	79155	broad.mit.edu	37	4	2746482	2746482	+	Missense_Mutation	SNP	G	G	A	rs150823075		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:2746482G>A	uc003gfg.2	-	3	935	c.848C>T	c.(847-849)gCg>gTg	p.A283V	TNIP2_uc003gff.2_Missense_Mutation_p.A176V	NM_024309	NP_001154999	Q8NFZ5	TNIP2_HUMAN	Homo sapiens TNFAIP3 interacting protein 2 (TNIP2), transcript variant 1, mRNA.	283						cytosol	protein binding	p.L282P(1)		breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CCTGGAGGCCGCCAGCTCCTG	0.607000												
TMCC3	57458	broad.mit.edu	37	12	94972205	94972205	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:94972205C>T	uc001tdj.2	-	2	1214	c.1096G>A	c.(1096-1098)Gcc>Acc	p.A366T	TMCC3_uc001tdi.2_Missense_Mutation_p.A335T	NM_020698	NP_065749	Q9ULS5	TMCC3_HUMAN	Homo sapiens transmembrane and coiled-coil domain family 3 (TMCC3), mRNA.	366						integral to membrane				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						GCCTGGTAGGCCACCTTCTCC	0.562000												
ACP1	52	broad.mit.edu	37	2	272055	272055	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:272055G>A	uc002qwf.3	+	2	232	c.136G>A	c.(136-138)Gca>Aca	p.A46T	ACP1_uc002qwd.2_Missense_Mutation_p.A46T|ACP1_uc002qwe.4_Non-coding_Transcript|ACP1_uc002qwg.3_Intron|ACP1_uc002qwh.3_Non-coding_Transcript	NM_004300	NP_004291	P24666	PPAC_HUMAN	Homo sapiens acid phosphatase 1, soluble (ACP1), transcript variant 3, mRNA.	46						cytoplasm|internal side of plasma membrane|nucleus|soluble fraction	acid phosphatase activity|identical protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236)		all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127)		AGACAGCGCGGCAACTTCCGG	0.527000												
APBA2	321	broad.mit.edu	37	15	29397673	29397673	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:29397673G>A	uc001zck.3	+	9	1820	c.1616G>A	c.(1615-1617)aGc>aAc	p.S539N	APBA2_uc010azj.2_Missense_Mutation_p.S527N|APBA2_uc010uat.2_Missense_Mutation_p.S527N|APBA2_uc001zcl.3_Missense_Mutation_p.S527N	NM_005503	NP_005494	Q99767	APBA2_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 2 (APBA2), transcript variant 1, mRNA.	539	PID.				nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		GAAGACTTGAGCCAGAAGGAA	0.562000												
CATSPERB	79820	broad.mit.edu	37	14	92076988	92076988	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:92076988C>T	uc001xzs.1	-	20	2574	c.2434G>A	c.(2434-2436)Gcc>Acc	p.A812T	CATSPERB_uc010aub.1_Missense_Mutation_p.A334T	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.	812					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				TCAGTAGAGGCTGACCACATA	0.383000												
PDILT	204474	broad.mit.edu	37	16	20410510	20410510	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:20410510T>C	uc002dhc.1	-	1	336	c.113A>G	c.(112-114)cAc>cGc	p.H38R		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	Homo sapiens protein disulfide isomerase-like, testis expressed (PDILT), mRNA.	38					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						CTCCAGGATGTGCACAGGCTT	0.597000												
PHF21A	51317	broad.mit.edu	37	11	45959804	45959804	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:45959804G>A	uc001ncc.4	-	14	2133	c.1509C>T	c.(1507-1509)tgC>tgT	p.C503C	PHF21A_uc001ncb.4_Silent_p.C457C|PHF21A_uc009ykx.3_Silent_p.C457C|PHF21A_uc001nca.1_Silent_p.C239C	NM_001101802	NP_001095272	Q96BD5	PF21A_HUMAN	Homo sapiens PHD finger protein 21A (PHF21A), transcript variant 1, mRNA.	503	Required for transcriptional repression.				blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						AACATGTGTCGCACATCAGTA	0.443000												
TBX6	6911	broad.mit.edu	37	16	30100018	30100018	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:30100018G>T	uc010veh.2	-	4	824	c.764C>A	c.(763-765)cCa>cAa	p.P255Q	BOLA2_uc010bzb.1_Intron|TBX6_uc002dwk.1_Missense_Mutation_p.P255Q	NM_004608	NP_004599	O95947	TBX6_HUMAN	Homo sapiens T-box 6 (TBX6), mRNA.	255					anatomical structure morphogenesis|mesoderm development|multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						ACTCACCTGTGGGTTCTGGTA	0.617000												
KIDINS220	57498	broad.mit.edu	37	2	8890383	8890383	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:8890383C>T	uc002qzc.2	-	23	3455	c.3273G>A	c.(3271-3273)gcG>gcA	p.A1091A	KIDINS220_uc010yiv.1_Silent_p.A857A|KIDINS220_uc002qzd.2_Silent_p.A1049A|KIDINS220_uc010yiw.1_Silent_p.A1092A|KIDINS220_uc002qzb.2_5'UTR|KIDINS220_uc002qze.3_Silent_p.A96A	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	Homo sapiens kinase D-interacting substrate, 220kDa (KIDINS220), mRNA.	1091	Mediates interaction with CRKL (By similarity).				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ACCCTGATGGCGCCCTAGGAG	0.577000												
TTC23L	153657	broad.mit.edu	37	5	34850347	34850347	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:34850347G>T	uc003jiu.3	+	3	416	c.313G>T	c.(313-315)Ggg>Tgg	p.G105W		NM_144725	NP_653326	Q6PF05	TT23L_HUMAN	Homo sapiens tetratricopeptide repeat domain 23-like (TTC23L), mRNA.	105							binding	p.G105W(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(9)|prostate(2)|stomach(1)|urinary_tract(1)	22						GATTATTTTTGGGGACCATCA	0.453000												
GCC1	79571	broad.mit.edu	37	7	127222255	127222255	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:127222255C>T	uc003vma.3	-	1	2559	c.2141G>A	c.(2140-2142)aGc>aAc	p.S714N		NM_024523	NP_078799	Q96CN9	GCC1_HUMAN	Homo sapiens GRIP and coiled-coil domain containing 1 (GCC1), mRNA.	714	GRIP.					Golgi membrane|plasma membrane	protein binding			breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TCCCTCCCTGCTCTGGTCCCT	0.582000												
BACH2	60468	broad.mit.edu	37	6	90660539	90660539	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:90660539C>A	uc011eab.2	-	6	2160	c.1286G>T	c.(1285-1287)aGg>aTg	p.R429M	BACH2_uc003pnw.3_Missense_Mutation_p.R429M|BACH2_uc010kch.3_Missense_Mutation_p.R429M	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	Homo sapiens BTB and CNC homology 1, basic leucine zipper transcription factor 2 (BACH2), transcript variant 1, mRNA.	429						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		GATCACGCTCCTCCGGTCCAG	0.597000												
KCNV2	169522	broad.mit.edu	37	9	2719001	2719001	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:2719001G>A	uc003zho.2	+	0	1476	c.1262G>A	c.(1261-1263)gGc>gAc	p.G421D		NM_133497	NP_598004	Q8TDN2	KCNV2_HUMAN	Homo sapiens potassium channel, subfamily V, member 2 (KCNV2), mRNA.	421						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		ATCGCCATGGGCATCTTCACT	0.632000												
HNMT	3176	broad.mit.edu	37	2	138762705	138762705	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:138762705C>T	uc002tvf.3	+	4	687	c.433C>T	c.(433-435)Ctg>Ttg	p.L145L		NM_006895	NP_008826	P50135	HNMT_HUMAN	Homo sapiens histamine N-methyltransferase (HNMT), transcript variant 1, mRNA.	145					respiratory gaseous exchange	cytoplasm	histamine N-methyltransferase activity	p.L145L(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.125)	Amodiaquine(DB00613)|Histamine Phosphate(DB00667)|Quinacrine(DB01103)	TTTCTAGATGCTGTATTATGT	0.368000												
PLXNA2	5362	broad.mit.edu	37	1	208212226	208212226	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:208212226G>A	uc001hgz.3	-	24	5362	c.4604C>T	c.(4603-4605)gCc>gTc	p.A1535V		NM_025179	NP_079455	O75051	PLXA2_HUMAN	Homo sapiens plexin A2 (PLXNA2), mRNA.	1535					axon guidance	integral to membrane|intracellular|plasma membrane		p.A1535V(2)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CTTATACACGGCATCAAGAAT	0.527000												
ASB8	140461	broad.mit.edu	37	12	48543596	48543596	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:48543596G>A	uc001rrh.3	-	3	589	c.420C>T	c.(418-420)agC>agT	p.S140S	ASB8_uc010slr.2_Silent_p.S140S	NM_024095	NP_077000	Q9H765	ASB8_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 8 (ASB8), mRNA.	140					intracellular signal transduction	cytoplasm|nucleus				breast(1)|kidney(2)|large_intestine(2)|lung(5)|soft_tissue(1)	11						CAGAGGCCCCGCTCTCTAGGA	0.517000												
PLCB4	5332	broad.mit.edu	37	20	9360803	9360803	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:9360803A>G	uc021wam.1	+	9	862	c.847A>G	c.(847-849)Aaa>Gaa	p.K283E	PLCB4_uc010gbw.1_Missense_Mutation_p.K283E|PLCB4_uc010gbx.3_Missense_Mutation_p.K283E|PLCB4_uc021wal.1_Missense_Mutation_p.K283E|PLCB4_uc002wnh.3_Missense_Mutation_p.K130E	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	283					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						AGATTTGAAGAAAAAAGGTAA	0.299000												
CCDC36	339834	broad.mit.edu	37	3	49292916	49292916	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:49292916G>T	uc003cwk.2	+	8	1013	c.626G>T	c.(625-627)aGa>aTa	p.R209I	CCDC36_uc011bck.1_Missense_Mutation_p.R209I	NM_178173	NP_835467	Q8IYA8	CCD36_HUMAN	Homo sapiens coiled-coil domain containing 36 (CCDC36), transcript variant 1, mRNA.	209								p.R199I(1)		endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		ATGAAGAAAAGATTTGAAGCT	0.398000												
NEO1	4756	broad.mit.edu	37	15	73542042	73542042	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:73542042C>T	uc002avm.4	+	10	2066	c.1874C>T	c.(1873-1875)gCt>gTt	p.A625V	NEO1_uc010ukx.2_Missense_Mutation_p.A625V|NEO1_uc010uky.2_Missense_Mutation_p.A625V|NEO1_uc002avn.4_Missense_Mutation_p.A645V|NEO1_uc010ukz.2_Missense_Mutation_p.A49V	NM_002499	NP_002490	Q92859	NEO1_HUMAN	Homo sapiens neogenin 1 (NEO1), transcript variant 1, mRNA.	625	Fibronectin type-III 2.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						CCAGATGTTGCTGTTCGAACA	0.423000												
C11orf45	219833	broad.mit.edu	37	11	128773396	128773396	+	Silent	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:128773396G>T	uc001qeu.3	-	2	341	c.147C>A	c.(145-147)gcC>gcA	p.A49A	KCNJ5_uc001qet.3_Intron|KCNJ5_uc009zck.3_Intron|C11orf45_uc009zcl.3_Silent_p.A49A|C11orf45_uc001qev.3_Silent_p.A49A	NM_145013	NP_659450	Q8TAV5	CK045_HUMAN	Homo sapiens chromosome 11 open reading frame 45 (C11orf45), transcript variant 2, mRNA.	49						extracellular region				endometrium(1)|kidney(1)|lung(2)|pancreas(1)|prostate(2)	7	all_hematologic(175;0.0641)	Lung NSC(97;0.00521)|Breast(109;0.00715)|all_lung(97;0.0111)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.00531)|LUSC - Lung squamous cell carcinoma(976;0.0193)|Lung(977;0.0195)		TCCTGACAGAGGCAGACCTGC	0.512000												
HOXC10	3226	broad.mit.edu	37	12	54379557	54379557	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:54379557G>A	uc001sen.3	+	0	612	c.514G>A	c.(514-516)Gcc>Acc	p.A172T		NM_017409	NP_059105	Q9NYD6	HXC10_HUMAN	Homo sapiens homeobox C10 (HOXC10), mRNA.	172					positive regulation of cell proliferation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(14)|pancreas(1)	20						CGACTTCGAAGCCCCTTTCGA	0.652000												
SULT1C3	442038	broad.mit.edu	37	2	108868906	108868906	+	Silent	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:108868906A>G	uc010ywo.2	+	1	258	c.258A>G	c.(256-258)agA>agG	p.R86R		NM_001008743	NP_001008743	Q6IMI6	ST1C3_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1C, member 3 (SULT1C3), mRNA.	86						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						CTCTAGATAGACACGCTTTCC	0.373000												
KNDC1	85442	broad.mit.edu	37	10	135038246	135038246	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:135038246A>G	uc001llz.1	+	29	5103	c.5102A>G	c.(5101-5103)tAc>tGc	p.Y1701C		NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA.	1701	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CTCCAGTCGTACCTCAAGCAG	0.587000												
ENOSF1	55556	broad.mit.edu	37	18	677835	677835	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:677835G>A	uc010dkf.3	-	11	988	c.977C>T	c.(976-978)gCg>gTg	p.A326V	ENOSF1_uc002kku.4_Missense_Mutation_p.A319V|ENOSF1_uc002kkt.4_Missense_Mutation_p.A237V|ENOSF1_uc010dke.3_Non-coding_Transcript|ENOSF1_uc002kkw.4_Missense_Mutation_p.A138V	NM_202758	NP_974487	Q7L5Y1	ENOF1_HUMAN	Homo sapiens enolase superfamily member 1 (ENOSF1), transcript variant 3, mRNA.	319					cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						CAGGGCCTTCGCCTGTAGGAG	0.443000												
DHDH	27294	broad.mit.edu	37	19	49442881	49442881	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:49442881G>A	uc002ple.1	+	3	582	c.542G>A	c.(541-543)tGt>tAt	p.C181Y		NM_014475	NP_055290	Q9UQ10	DHDH_HUMAN	Homo sapiens dihydrodiol dehydrogenase (dimeric) (DHDH), mRNA.	181					carbohydrate metabolic process		D-xylose 1-dehydrogenase (NADP+) activity|NAD(P)+ transhydrogenase activity|binding|electron carrier activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			central_nervous_system(1)|large_intestine(3)|lung(3)|ovary(1)|soft_tissue(1)	9		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179)		GGCATCTACTGTGTCCAGTTC	0.572000												
C15orf32	145858	broad.mit.edu	37	15	93015523	93015523	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:93015523C>T	uc002brc.1	+	0	617	c.145C>T	c.(145-147)Cca>Tca	p.P49S	C15orf32_uc010bod.1_Non-coding_Transcript	NM_153040	NP_694585	Q32M92	CO032_HUMAN	Homo sapiens chromosome 15 open reading frame 32 (C15orf32), mRNA.	49										endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	12	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)			CTCGGCGAGGCCATGTGTCTG	0.517000												
PTP4A3	11156	broad.mit.edu	37	8	142432393	142432393	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:142432393G>A	uc003ywg.1	+	0	387	c.53G>A	c.(52-54)cGc>cAc	p.R18H	PTP4A3_uc003ywh.1_Missense_Mutation_p.R18H|PTP4A3_uc010met.1_Missense_Mutation_p.R18H	NM_032611	NP_116000	O75365	TP4A3_HUMAN	Homo sapiens protein tyrosine phosphatase type IVA, member 3 (PTP4A3), transcript variant 1, mRNA.	18						early endosome|plasma membrane	identical protein binding|prenylated protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R18L(2)		endometrium(2)|large_intestine(1)|lung(3)	6	all_cancers(97;2.55e-15)|all_epithelial(106;1.39e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0474)			AAACACATGCGCTTCCTCATC	0.657000												
SLFN5	162394	broad.mit.edu	37	17	33586592	33586592	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:33586592G>A	uc002hjf.4	+	1	1000	c.883G>A	c.(883-885)Gca>Aca	p.A295T	SLFN5_uc002hje.3_Missense_Mutation_p.A295T|SLFN5_uc010wcg.2_Missense_Mutation_p.A295T	NM_144975	NP_659412	Q08AF3	SLFN5_HUMAN	Homo sapiens schlafen family member 5 (SLFN5), mRNA.	295					cell differentiation		ATP binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		ATATGTCTGTGCAATCAAGGT	0.488000												
CUX1	1523	broad.mit.edu	37	7	101917564	101917564	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:101917564C>T	uc003uyt.3	+	15	1560	c.1433C>T	c.(1432-1434)gCc>gTc	p.A478V	CUX1_uc003uyw.3_Missense_Mutation_p.A432V|CUX1_uc003uyv.3_Missense_Mutation_p.A462V|CUX1_uc003uyu.3_Missense_Mutation_p.A476V|CUX1_uc011kkn.2_Missense_Mutation_p.A439V	NM_001913	NP_001904	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 2, mRNA.	311					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						ATCAAAGAGGCCACTGCCCTA	0.602000												
MAN1B1	11253	broad.mit.edu	37	9	139996028	139996028	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:139996028G>A	uc004cld.2	+	7	1193	c.1158G>A	c.(1156-1158)ccG>ccA	p.P386P	MAN1B1_uc004clc.2_Silent_p.P287P|MAN1B1_uc011meo.1_Silent_p.P287P|MAN1B1_uc011mep.2_Silent_p.P386P|MAN1B1_uc010ncc.2_Non-coding_Transcript|MAN1B1_uc004clf.1_5'Flank	NM_016219	NP_057303	Q9UKM7	MA1B1_HUMAN	Homo sapiens mannosidase, alpha, class 1B, member 1 (MAN1B1), transcript variant 1, mRNA.	386					oligosaccharide metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	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)		TTGCCCACCCGCCACGGTGGA	0.542000												
TSHZ1	10194	broad.mit.edu	37	18	72999217	72999217	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:72999217G>A	uc002lly.3	+	1	2283	c.1720G>A	c.(1720-1722)Gcc>Acc	p.A574T	TSHZ1_uc021uln.1_Missense_Mutation_p.A574T	NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	Homo sapiens teashirt zinc finger homeobox 1 (TSHZ1), mRNA.	619						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		CGAGCACAACGCCCTCCTGCA	0.672000												
ACSBG1	23205	broad.mit.edu	37	15	78466056	78466056	+	Silent	SNP	G	G	A	rs149258367	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:78466056G>A	uc002bdh.3	-	12	2174	c.1968C>T	c.(1966-1968)gcC>gcT	p.A656A	ACSBG1_uc010umx.2_Silent_p.A414A|ACSBG1_uc010umw.2_Silent_p.A652A	NM_015162	NP_055977	Q96GR2	ACBG1_HUMAN	Homo sapiens acyl-CoA synthetase bubblegum family member 1 (ACSBG1), transcript variant 1, mRNA.	656					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						CCTGGTACACGGCCTCATCCT	0.567000												
OSCP1	127700	broad.mit.edu	37	1	36886127	36886127	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:36886127G>A	uc001caq.3	-	7	1025	c.909C>T	c.(907-909)ggC>ggT	p.G303G	OSCP1_uc021olk.1_Silent_p.G313G	NM_145047	NP_659484	Q8WVF1	OSCP1_HUMAN	Homo sapiens organic solute carrier partner 1 (OSCP1), transcript variant 1, mRNA.	313					transport	basal plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	22						CGGGCTCAGGGCCACTGGGTT	0.448000											OREG0013368	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ZHX3	23051	broad.mit.edu	37	20	39831460	39831460	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:39831460C>T	uc010ggg.1	-	0	2247	c.2097G>A	c.(2095-2097)gaG>gaA	p.E699E	ZHX3_uc002xjr.1_Silent_p.E699E|ZHX3_uc002xjs.1_Silent_p.E699E|ZHX3_uc002xjt.1_Silent_p.E699E|ZHX3_uc002xju.1_Silent_p.E699E|ZHX3_uc002xjv.1_Silent_p.E699E|ZHX3_uc002xjw.1_Silent_p.E699E	NM_015035	NP_055850	Q9H4I2	ZHX3_HUMAN	Homo sapiens zinc fingers and homeoboxes 3 (ZHX3), mRNA.	699					negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				AGACCCTTAGCTCACTGGCCA	0.517000												
KIF21A	55605	broad.mit.edu	37	12	39726490	39726490	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:39726490C>T	uc001rly.3	-	19	3179	c.2759G>A	c.(2758-2760)cGc>cAc	p.R920H	KIF21A_uc001rlv.3_5'Flank|KIF21A_uc001rlw.3_Missense_Mutation_p.R237H|KIF21A_uc001rlx.3_Missense_Mutation_p.R907H|KIF21A_uc001rlz.3_Missense_Mutation_p.R884H|KIF21A_uc010skl.2_Missense_Mutation_p.R907H	NM_001173464	NP_001166935	Q7Z4S6	KI21A_HUMAN	Homo sapiens kinesin family member 21A (KIF21A), transcript variant 1, mRNA.	920					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CCACTTCATGCGAGCTGTCTT	0.423000												
VPS13A	23230	broad.mit.edu	37	9	79910752	79910752	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:79910752C>T	uc004akr.3	+	32	4062	c.3802C>T	c.(3802-3804)Cga>Tga	p.R1268*	VPS13A_uc004akp.4_Nonsense_Mutation_p.R1268*|VPS13A_uc004akq.4_Nonsense_Mutation_p.R1268*|VPS13A_uc004aks.3_Nonsense_Mutation_p.R1229*|VPS13A_uc010mpo.1_5'UTR	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA.	1268					Golgi to endosome transport|protein transport	intracellular	protein binding	p.R1268*(3)		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						GAGTGAAATGCGACTATACAG	0.343000												
VWF	7450	broad.mit.edu	37	12	6127784	6127784	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:6127784C>T	uc001qnn.1	-	27	5050	c.4800G>A	c.(4798-4800)gcG>gcA	p.A1600A	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	1600	VWFA 2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			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)	CCAGGTTGGGCGCCTGCTCCC	0.612000												
TXNDC2	84203	broad.mit.edu	37	18	9886245	9886245	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:9886245G>A	uc002koi.4	+	0	523	c.74G>A	c.(73-75)gGc>gAc	p.G25D	TXNDC2_uc002koh.4_Intron|TXNDC2_uc021ugx.1_5'Flank	NM_001098529	NP_115619	Q86VQ3	TXND2_HUMAN	Homo sapiens thioredoxin domain containing 2 (spermatozoa) (TXNDC2), transcript variant 2, mRNA.	25					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						ATGAGGCTGGGCACTCAGGAA	0.478000												
INTS1	26173	broad.mit.edu	37	7	1538054	1538054	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:1538054C>T	uc003skn.2	-	9	1520	c.1419G>A	c.(1417-1419)gcG>gcA	p.A473A	INTS1_uc003skq.2_Silent_p.A473A	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	Homo sapiens integrator complex subunit 1 (INTS1), mRNA.	473					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CTACCTTGGGCGCCAGCTCTG	0.642000												
UGT2B4	7363	broad.mit.edu	37	4	70360986	70360986	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:70360986C>T	uc003hek.4	-	0	641	c.594G>A	c.(592-594)atG>atA	p.M198I	UGT2B4_uc011cap.2_Missense_Mutation_p.M62I|UGT2B4_uc003hel.4_Missense_Mutation_p.M198I	NM_021139	NP_066962	P06133	UD2B4_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.	198					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						TTAGTTCTGACATAACAACAG	0.388000												
KIFC3	3801	broad.mit.edu	37	16	57805529	57805529	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:57805529G>A	uc002emq.3	-	4	648	c.451C>T	c.(451-453)Cgg>Tgg	p.R151W	KIFC3_uc010vhw.2_Missense_Mutation_p.R49W|KIFC3_uc002emn.3_Non-coding_Transcript|KIFC3_uc002emm.3_Missense_Mutation_p.R12W|KIFC3_uc010vhx.2_Missense_Mutation_p.R12W|KIFC3_uc010cdf.3_Missense_Mutation_p.R12W|KIFC3_uc002emo.4_Missense_Mutation_p.R12W|KIFC3_uc010vhy.2_Missense_Mutation_p.R93W|KIFC3_uc002emp.3_Missense_Mutation_p.R151W|KIFC3_uc010vhz.2_Missense_Mutation_p.R173W|KIFC3_uc002emr.1_Intron|KIFC3_uc010cdg.1_Non-coding_Transcript	NM_001130100	NP_001123571	Q9BVG8	KIFC3_HUMAN	Homo sapiens kinesin family member C3 (KIFC3), transcript variant 2, mRNA.	151					epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				TCACAGCGCCGCATCTCCTGC	0.657000												
TRPM3	80036	broad.mit.edu	37	9	73151051	73151051	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:73151051C>T	uc004aid.3	-	24	5186	c.4942G>A	c.(4942-4944)Gca>Aca	p.A1648T	TRPM3_uc004ahu.3_Missense_Mutation_p.A1490T|TRPM3_uc004ahv.3_Missense_Mutation_p.A1450T|TRPM3_uc004ahw.3_Missense_Mutation_p.A1520T|TRPM3_uc004ahx.3_Missense_Mutation_p.A1507T|TRPM3_uc004ahy.3_Missense_Mutation_p.A1510T|TRPM3_uc004ahz.3_Missense_Mutation_p.A1497T|TRPM3_uc004aia.3_Missense_Mutation_p.A1495T|TRPM3_uc004aib.3_Missense_Mutation_p.A1485T|TRPM3_uc004aic.3_Intron	NM_001007471	NP_066003	Q9HCF6	TRPM3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA.	1673						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CTGGTGTGTGCATATGGCGCA	0.547000												
DOPEY1	23033	broad.mit.edu	37	6	83863283	83863283	+	Silent	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:83863283T>C	uc011dyy.2	+	30	6416	c.6156T>C	c.(6154-6156)gtT>gtC	p.V2052V	DOPEY1_uc003pjs.1_Silent_p.V2061V|DOPEY1_uc010kbl.1_Silent_p.V2052V|DOPEY1_uc003pjt.3_Non-coding_Transcript	NM_001199942	NP_001186871	Q5JWR5	DOP1_HUMAN	Homo sapiens dopey family member 1 (DOPEY1), transcript variant 2, mRNA.	2061					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		AGGAGCGGGTTATTCCTTTAC	0.308000												
ABR	29	broad.mit.edu	37	17	1028590	1028590	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:1028590C>T	uc002fsd.3	-	1	284	c.174G>A	c.(172-174)ccG>ccA	p.P58P	ABR_uc002fse.3_Silent_p.P12P|ABR_uc010cjq.1_Silent_p.P70P	NM_021962	NP_001153218	Q12979	ABR_HUMAN	Homo sapiens active BCR-related gene (ABR), transcript variant 1, mRNA.	58					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		CGCTGAGCTGCGGGGACATGG	0.667000												
KIAA0430	9665	broad.mit.edu	37	16	15714321	15714321	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:15714321T>C	uc002ddr.3	-	12	2914	c.2707A>G	c.(2707-2709)Atc>Gtc	p.I903V	KIAA0430_uc002ddq.3_Missense_Mutation_p.I737V|KIAA0430_uc010uzv.2_Missense_Mutation_p.I900V|KIAA0430_uc010uzw.2_Missense_Mutation_p.I903V	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	Homo sapiens KIAA0430 (KIAA0430), transcript variant 1, mRNA.	902						peroxisome	RNA binding|nucleotide binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TTTTCATAGATATCTGTAAAT	0.383000												
OS9	10956	broad.mit.edu	37	12	58090083	58090083	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:58090083G>A	uc001spj.3	+	4	713	c.506G>A	c.(505-507)cGc>cAc	p.R169H	OS9_uc010srx.2_Intron|OS9_uc001spk.3_Missense_Mutation_p.R169H|OS9_uc001spl.3_Missense_Mutation_p.R169H|OS9_uc001spm.3_Missense_Mutation_p.R169H|OS9_uc001spn.3_Missense_Mutation_p.R169H|OS9_uc010sry.2_Intron|OS9_uc010srz.2_Missense_Mutation_p.R110H	NM_006812	NP_006803	Q13438	OS9_HUMAN	Homo sapiens osteosarcoma amplified 9, endoplasmic reticulum lectin (OS9), transcript variant 1, mRNA.	169	PRKCSH.				ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	Hrd1p ubiquitin ligase complex|endoplasmic reticulum lumen	glycoprotein binding|protein binding|sugar binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			CGTCTTAAACGCTACCACAGC	0.557000												
MUC6	4588	broad.mit.edu	37	11	1016812	1016812	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:1016812T>C	uc001lsw.2	-	30	6040	c.5989A>G	c.(5989-5991)Acc>Gcc	p.T1997A		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	1997	Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGTGATGGGGTTGGATAGGTA	0.542000												
EXOC3	11336	broad.mit.edu	37	5	453949	453949	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:453949C>T	uc003jba.3	+	3	957	c.829C>T	c.(829-831)Cgc>Tgc	p.R277C		NM_007277	NP_009208	O60645	EXOC3_HUMAN	Homo sapiens exocyst complex component 3 (EXOC3), mRNA.	288					exocytosis|protein transport			p.R277C(2)		breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GTGGCTTGTCCGCCACCTGGA	0.473000												
HNRNPUL2	221092	broad.mit.edu	37	11	62483025	62483025	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:62483025G>A	uc001nuw.3	-	12	2339	c.2110C>T	c.(2110-2112)Cga>Tga	p.R704*	HNRNPUL2_uc001nuu.2_Non-coding_Transcript	NM_001079559	NP_001073027	Q1KMD3	HNRL2_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein U-like 2 (HNRNPUL2), mRNA.	704	Tyr-rich.				cell killing	nucleus	ATP binding|nucleic acid binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TCATAATCTCGCCCGTAAAAT	0.433000												
POLR1B	84172	broad.mit.edu	37	2	113331267	113331267	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:113331267C>T	uc002thw.2	+	13	2980	c.2400C>T	c.(2398-2400)gaC>gaT	p.D800D	POLR1B_uc010fkn.2_Silent_p.D744D|POLR1B_uc002thx.2_Silent_p.D661D|POLR1B_uc010fko.2_Silent_p.D617D|POLR1B_uc010fkp.2_Silent_p.D239D|POLR1B_uc002thy.2_Silent_p.D661D|POLR1B_uc010yxo.1_Silent_p.D577D	NM_019014	NP_061887	Q9H9Y6	RPA2_HUMAN	Homo sapiens polymerase (RNA) I polypeptide B, 128kDa (POLR1B), transcript variant 1, mRNA.	800				D -> G (in Ref. 1; BAC87247).	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						AACCTGGTGACCCACGCGTTC	0.463000												
USP32	84669	broad.mit.edu	37	17	58365944	58365944	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:58365944T>C	uc002iyo.1	-	4	797	c.511A>G	c.(511-513)Acc>Gcc	p.T171A	USP32_uc010wov.1_Missense_Mutation_p.T171A	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	Homo sapiens ubiquitin specific peptidase 32 (USP32), mRNA.	171					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TCAGTGAGGGTAACATACACA	0.363000												
YIPF2	78992	broad.mit.edu	37	19	11034602	11034602	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:11034602C>T	uc002mqc.3	-	6	685	c.558G>A	c.(556-558)tgG>tgA	p.W186*	DQ597473_uc021upb.1_5'Flank|YIPF2_uc002mqb.3_Nonsense_Mutation_p.W186*	NM_024029	NP_076934	Q9BWQ6	YIPF2_HUMAN	Homo sapiens Yip1 domain family, member 2 (YIPF2), mRNA.	186						integral to membrane|transport vesicle				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						CACCCTTGCGCCACCGCAGGA	0.632000												
STK4	6789	broad.mit.edu	37	20	43607098	43607098	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:43607098T>C	uc002xnb.3	+	2	221	c.131T>C	c.(130-132)gTa>gCa	p.V44A	STK4_uc010ggx.3_Missense_Mutation_p.V44A|STK4_uc010ggy.3_Missense_Mutation_p.V44A|STK4_uc010ggw.1_Missense_Mutation_p.V44A	NM_006282	NP_006273	Q13043	STK4_HUMAN	Homo sapiens serine/threonine kinase 4 (STK4), mRNA.	44	Protein kinase.				apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Myeloproliferative disorder(115;0.0122)				TATGGCAGCGTATACAAAGCT	0.378000												
VTA1	51534	broad.mit.edu	37	6	142539749	142539749	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:142539749C>T	uc003qiw.3	+	7	908	c.893C>T	c.(892-894)gCt>gTt	p.A298V	VTA1_uc011edu.2_Missense_Mutation_p.A213V	NM_016485	NP_057569	Q9NP79	VTA1_HUMAN	Homo sapiens Vps20-associated 1 homolog (S. cerevisiae) (VTA1), mRNA.	298	Interaction with VPS4B (By similarity).				cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding			endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		CTACAAAAGGCTCTCAAGTTA	0.443000												
FGFR1OP	11116	broad.mit.edu	37	6	167436102	167436102	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:167436102A>G	uc003qvj.3	+	7	870	c.785A>G	c.(784-786)aAg>aGg	p.K262R	CCR6_uc003qvl.3_5'UTR|FGFR1OP_uc011egp.1_Missense_Mutation_p.K215R|FGFR1OP_uc003qvk.3_Missense_Mutation_p.K242R	NM_007045	NP_008976	O95684	FR1OP_HUMAN	Homo sapiens FGFR1 oncogene partner (FGFR1OP), transcript variant 1, mRNA.	262					G2/M transition of mitotic cell cycle|microtubule anchoring|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation	centrosome|cytosol|nucleus|perinuclear region of cytoplasm	protein homodimerization activity|protein kinase binding|protein tyrosine kinase inhibitor activity			large_intestine(2)|ovary(1)|stomach(1)	4		Breast(66;1.48e-05)|Ovarian(120;0.0607)		OV - Ovarian serous cystadenocarcinoma(33;1.73e-19)|BRCA - Breast invasive adenocarcinoma(81;5.1e-06)|GBM - Glioblastoma multiforme(31;0.00231)		CCCATTCCTAAGCCAGAGAAA	0.333000			T	FGFR1	"""MPD, NHL"""							
CD1B	910	broad.mit.edu	37	1	158298045	158298045	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:158298045G>A	uc001frx.3	-	5	1091	c.983C>T	c.(982-984)tCa>tTa	p.S328L	CD1B_uc001frw.3_Missense_Mutation_p.S273L	NM_001764	NP_001755	P29016	CD1B_HUMAN	Homo sapiens CD1b molecule (CD1B), mRNA.	328					antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					ATTCTGATATGACCTGTTAAA	0.363000												
TINAGL1	64129	broad.mit.edu	37	1	32042850	32042850	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:32042850G>A	uc001bta.3	+	1	227	c.101G>A	c.(100-102)gGt>gAt	p.G34D	TINAGL1_uc010ogi.1_Missense_Mutation_p.G34D|TINAGL1_uc010ogj.2_Missense_Mutation_p.G34D|TINAGL1_uc010ogk.1_Missense_Mutation_p.G34D|TINAGL1_uc021oko.1_5'Flank	NM_022164	NP_001191344	Q9GZM7	TINAL_HUMAN	Homo sapiens tubulointerstitial nephritis antigen-like 1 (TINAGL1), transcript variant 1, mRNA.	34					endosome transport|immune response|proteolysis	extracellular region	cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity			breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		CTAGCACCGGGTCTGCACCTG	0.711000												
NRXN1	9378	broad.mit.edu	37	2	51254674	51254674	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:51254674C>T	uc021vhh.1	-	0	1659	c.738G>A	c.(736-738)tcG>tcA	p.S246S	NRXN1_uc021vhg.1_Silent_p.S246S|NRXN1_uc021vhi.1_Silent_p.S246S|NRXN1_uc021vhj.1_Silent_p.S246S|NRXN1_uc021vhk.1_Silent_p.S246S	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	246	EGF-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			AGCCGGTTCGCGAGCAGTCGC	0.756000												
SALL4	57167	broad.mit.edu	37	20	50407173	50407173	+	Silent	SNP	G	G	T	rs74315427		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:50407173G>T	uc002xwh.4	-	1	1950	c.1849C>A	c.(1849-1851)Cga>Aga	p.R617R	SALL4_uc010gii.3_Intron|SALL4_uc002xwi.4_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.	617					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTGTTGGTTCGGTGAACCCCA	0.522000												
CUX1	1523	broad.mit.edu	37	7	101559425	101559425	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:101559425G>A	uc003uys.4	+	1	221	c.94G>A	c.(94-96)Gcg>Acg	p.A32T	CUX1_uc003uyw.3_Missense_Mutation_p.A32T|CUX1_uc003uyv.3_Missense_Mutation_p.A32T|CUX1_uc003uyt.3_Missense_Mutation_p.A32T|CUX1_uc003uyu.3_Missense_Mutation_p.A32T|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Missense_Mutation_p.A21T	NM_001202543	NP_001189472	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.	21					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						AACGGTATTGGCGAACCGGCA	0.517000												
SEC16A	9919	broad.mit.edu	37	9	139358156	139358156	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:139358156G>A	uc004chx.3	-	9	4792	c.4483C>T	c.(4483-4485)Cgg>Tgg	p.R1495W	SEC16A_uc004chv.4_Missense_Mutation_p.R885W|SEC16A_uc004chw.3_Missense_Mutation_p.R1495W|SEC16A_uc010nbn.3_Missense_Mutation_p.R1495W	NM_014866	NP_055681	O15027	SC16A_HUMAN	Homo sapiens SEC16 homolog A (S. cerevisiae) (SEC16A), mRNA.	1317					protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GGGAACGCCCGCATCTCCTCC	0.627000												
RBBP6	5930	broad.mit.edu	37	16	24567768	24567768	+	Splice_Site	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:24567768C>T	uc002dmh.3	+	7	1714	c.674_splice	c.e7+1	p.A225_splice	RBBP6_uc010vcb.1_Splice_Site_p.A92_splice|RBBP6_uc002dmi.3_Splice_Site_p.A225_splice|RBBP6_uc010bxr.3_Splice_Site_p.A225_splice|RBBP6_uc002dmk.3_Splice_Site_p.A92_splice	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA.	225					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		ACTATAGATGCGTAAGTATGC	0.398000												
IAH1	285148	broad.mit.edu	37	2	9624576	9624576	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:9624576G>A	uc002qzr.3	+	4	487	c.461G>A	c.(460-462)cGc>cAc	p.R154H	IAH1_uc002qzs.3_Missense_Mutation_p.R41H|IAH1_uc002qzt.3_Missense_Mutation_p.R41H|IAH1_uc010yiz.2_Non-coding_Transcript	NM_001039613	NP_001034702	Q2TAA2	IAH1_HUMAN	Homo sapiens isoamyl acetate-hydrolyzing esterase 1 homolog (S. cerevisiae) (IAH1), mRNA.	154					lipid catabolic process		hydrolase activity, acting on ester bonds			breast(1)|large_intestine(2)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AAACTAAATCGCCTGAACTCT	0.483000												
DOCK4	9732	broad.mit.edu	37	7	111409619	111409619	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:111409619T>C	uc003vfy.3	-	37	4171	c.3902A>G	c.(3901-3903)cAc>cGc	p.H1301R	DOCK4_uc011kml.2_Missense_Mutation_p.H137R|DOCK4_uc011kmm.2_Missense_Mutation_p.H163R|DOCK4_uc003vfw.3_Missense_Mutation_p.H706R|DOCK4_uc003vfx.3_Missense_Mutation_p.H1256R	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA.	1256	DHR-2.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity|receptor tyrosine kinase 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)				GATGGTGAGGTGCAGGTGCTC	0.562000												
HACL1	26061	broad.mit.edu	37	3	15609981	15609981	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:15609981T>C	uc003caf.3	-	12	1368	c.1208A>G	c.(1207-1209)gAc>gGc	p.D403G	HACL1_uc011avr.1_Non-coding_Transcript|HACL1_uc010hep.3_Missense_Mutation_p.D162G|HACL1_uc011avs.2_Missense_Mutation_p.D376G|HACL1_uc011avt.2_Missense_Mutation_p.D343G|HACL1_uc003cag.3_Missense_Mutation_p.D47G|HACL1_uc011avu.2_Missense_Mutation_p.D321G	NM_012260	NP_036392	Q9UJ83	HACL1_HUMAN	Homo sapiens 2-hydroxyacyl-CoA lyase 1 (HACL1), mRNA.	403	Thiamine pyrophosphate binding.				fatty acid alpha-oxidation	peroxisomal matrix	carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding			NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	16						CCGTCCAATGTCCATAGTATT	0.368000												
PM20D1	148811	broad.mit.edu	37	1	205814498	205814498	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:205814498G>A	uc001hdj.3	-	2	520	c.444C>T	c.(442-444)ggC>ggT	p.G148G	PM20D1_uc009xbr.3_Non-coding_Transcript	NM_152491	NP_689704	Q6GTS8	P20D1_HUMAN	Homo sapiens peptidase M20 domain containing 1 (PM20D1), mRNA.	148						extracellular region	metal ion binding|peptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			CATAGATGATGCCATCACGCT	0.567000												
C12orf60	144608	broad.mit.edu	37	12	14976105	14976105	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:14976105A>G	uc001rcj.4	+	1	440	c.236A>G	c.(235-237)gAc>gGc	p.D79G	C12orf60_uc021qvq.1_Missense_Mutation_p.D79G	NM_175874	NP_787070	Q5U649	CL060_HUMAN	Homo sapiens chromosome 12 open reading frame 60 (C12orf60), mRNA.	79										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	9						GCAAGACATGACAAAATTCAA	0.373000												
PLXNB2	23654	broad.mit.edu	37	22	50728515	50728515	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:50728515C>T	uc003bkv.4	-	2	592	c.499G>A	c.(499-501)Gtg>Atg	p.V167M		NM_012401	NP_036533	O15031	PLXB2_HUMAN	Homo sapiens plexin B2 (PLXNB2), mRNA.	167	Sema.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ACAAACAGCACGCGGTCACCA	0.622000												
TAF5	6877	broad.mit.edu	37	10	105147784	105147784	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:105147784G>A	uc001kwv.3	+	10	2230	c.2207G>A	c.(2206-2208)cGa>cAa	p.R736Q	TAF5_uc010qqq.2_Missense_Mutation_p.R681Q	NM_006951	NP_008882	Q15542	TAF5_HUMAN	Homo sapiens TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa (TAF5), mRNA.	736					histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex	protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		AATACAGTTCGATTATGGGAT	0.373000												
ZNF462	58499	broad.mit.edu	37	9	109691644	109691644	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:109691644G>A	uc004bcz.3	+	2	5740	c.5451G>A	c.(5449-5451)aaG>aaA	p.K1817K	MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Silent_p.K1665K|ZNF462_uc004bda.3_Silent_p.K1665K	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	Homo sapiens zinc finger protein 462 (ZNF462), mRNA.	1817					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						AGCATGAGAAGCCCACACTGA	0.547000												
MYCBP2	23077	broad.mit.edu	37	13	77807298	77807298	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:77807298C>T	uc021rks.1	-	17	2997	c.2730G>A	c.(2728-2730)aaG>aaA	p.K910K	MYCBP2_uc010aev.3_Silent_p.K276K	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	872					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TACCTTTGTGCTTGTCCCGTT	0.438000												
SETBP1	26040	broad.mit.edu	37	18	42531132	42531132	+	Silent	SNP	C	C	T	rs140403091		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:42531132C>T	uc010dni.3	+	3	2123	c.1827C>T	c.(1825-1827)ccC>ccT	p.P609P		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	609						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CCACCAGCCCCGTCAGTCCCA	0.532000									Schinzel-Giedion syndrome			
DHX35	60625	broad.mit.edu	37	20	37634988	37634988	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:37634988G>A	uc002xjh.3	+	11	1241	c.1211G>A	c.(1210-1212)cGc>cAc	p.R404H	DHX35_uc010zwa.2_Missense_Mutation_p.R249H|DHX35_uc010zwc.2_Missense_Mutation_p.R373H|DHX35_uc010zwb.2_Missense_Mutation_p.R249H	NM_021931	NP_068750	Q9H5Z1	DHX35_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 35 (DHX35), transcript variant 1, mRNA.	404	Helicase C-terminal.					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.R404H(2)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				AAATGTTATCGCCTTTATACA	0.478000												
PCDHAC2	56134	broad.mit.edu	37	5	140307389	140307389	+	Silent	SNP	G	G	A	rs112037348	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:140307389G>A	uc003lih.2	+	0	1088	c.912G>A	c.(910-912)acG>acA	p.T304T	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lig.1_Silent_p.T304T	NM_018898	NP_061721	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 1 (PCDHAC1), transcript variant 1, mRNA.	329	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCTGAAACGCTCTTGGAGG	0.557000												
GAB4	128954	broad.mit.edu	37	22	17488874	17488874	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:17488874C>T	uc002zlw.3	-	0	239	c.131G>A	c.(130-132)gGc>gAc	p.G44D	GAB4_uc010gqs.1_Missense_Mutation_p.G44D	NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN	Homo sapiens GRB2-associated binding protein family, member 4 (GAB4), mRNA.	44	PH.									breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				CCTCAGCCAGCCGCTGTACAG	0.677000												
CLEC1B	51266	broad.mit.edu	37	12	10147759	10147759	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:10147759G>A	uc001qwu.3	-	4	725	c.525C>T	c.(523-525)ggC>ggT	p.G175G	CLEC1B_uc009zhd.3_Silent_p.G142G	NM_016509	NP_057593	Q9P126	CLC1B_HUMAN	Homo sapiens C-type lectin domain family 1, member B (CLEC1B), transcript variant 1, mRNA.	175	C-type lectin.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	protein binding|sugar binding|transmembrane receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1)	19						AGATAACCGAGCCATCCTCCC	0.433000												
ABR	29	broad.mit.edu	37	17	1028600	1028600	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:1028600G>A	uc002fsd.3	-	1	274	c.164C>T	c.(163-165)aCc>aTc	p.T55I	ABR_uc002fse.3_Missense_Mutation_p.T9I|ABR_uc010cjq.1_Missense_Mutation_p.T67I	NM_021962	NP_001153218	Q12979	ABR_HUMAN	Homo sapiens active BCR-related gene (ABR), transcript variant 1, mRNA.	55					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		CGGGGACATGGTGGGCGACTC	0.667000												
PTPRJ	5795	broad.mit.edu	37	11	48145282	48145282	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:48145282G>A	uc001ngp.4	+	4	1089	c.734G>A	c.(733-735)aGc>aAc	p.S245N	PTPRJ_uc001ngo.4_Missense_Mutation_p.S245N	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, J (PTPRJ), transcript variant 1, mRNA.	245	Fibronectin type-III 2.				contact inhibition|negative regulation of MAP kinase activity|negative regulation of T cell receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						AGCATTGGAAGCCATGAGGAG	0.512000												
CBLB	868	broad.mit.edu	37	3	105404299	105404299	+	Missense_Mutation	SNP	G	G	T	rs151321164	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:105404299G>T	uc003dwc.3	-	13	2388	c.2066C>A	c.(2065-2067)cCg>cAg	p.P689Q	CBLB_uc011bhi.2_Missense_Mutation_p.P711Q|CBLB_uc003dwd.2_Missense_Mutation_p.P689Q|CBLB_uc003dwe.2_Missense_Mutation_p.P689Q	NM_170662	NP_733762	Q13191	CBLB_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence b (CBLB), mRNA.	689	Pro-rich.				NLS-bearing substrate import into nucleus|cell surface receptor linked signaling pathway	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						ATTTGCTAACGGACCAGTACA	0.388000			Mis S		AML							
CCDC80	151887	broad.mit.edu	37	3	112337891	112337891	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:112337891C>A	uc003dzf.3	-	3	2314	c.2096G>T	c.(2095-2097)aGc>aTc	p.S699I	CCDC80_uc011bhv.2_Missense_Mutation_p.S699I|CCDC80_uc003dzg.3_Missense_Mutation_p.S699I|CCDC80_uc003dzh.1_Missense_Mutation_p.S699I	NM_199512	NP_955806	Q76M96	CCD80_HUMAN	Homo sapiens coiled-coil domain containing 80 (CCDC80), transcript variant 2, mRNA.	699										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						CCTCAGCTCGCTGATGAGACG	0.423000												
TFPI2	7980	broad.mit.edu	37	7	93519977	93519977	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:93519977C>T	uc003umy.1	-	0	89	c.14G>A	c.(13-15)cGc>cAc	p.R5H	GNGT1_uc003umx.1_Intron|TFPI2_uc003umz.1_Missense_Mutation_p.R5H|TFPI2_uc003una.1_Missense_Mutation_p.R5H	NM_006528	NP_006519	P48307	TFPI2_HUMAN	Homo sapiens tissue factor pathway inhibitor 2 (TFPI2), mRNA.	5					blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity			endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			CCCCAGGGGGCGAGCGGGGTC	0.692000												
CES1	1066	broad.mit.edu	37	16	55862794	55862794	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:55862794C>T	uc002eim.3	-	1	250	c.142G>A	c.(142-144)Gcc>Acc	p.A48T	CES1_uc002eil.3_Missense_Mutation_p.A49T|CES1_uc002ein.3_Missense_Mutation_p.A48T	NM_001025194	NP_001020365	P23141	EST1_HUMAN	Homo sapiens carboxylesterase 1 (CES1), transcript variant 2, mRNA.	48					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	AGGAAAATGGCCACAGGCTGT	0.567000												
CAPS2	84698	broad.mit.edu	37	12	75676076	75676076	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:75676076T>C	uc001sxl.3	-	15	1596	c.1567A>G	c.(1567-1569)Ata>Gta	p.I523V	CAPS2_uc001sxm.3_Missense_Mutation_p.I310V|CAPS2_uc009zsa.2_Missense_Mutation_p.I132V|CAPS2_uc001sxi.4_Missense_Mutation_p.I278V|CAPS2_uc001sxj.4_Missense_Mutation_p.I453V|CAPS2_uc001sxk.4_Missense_Mutation_p.I542V	NM_032606	NP_115995	Q9BXY5	CAYP2_HUMAN	Homo sapiens calcyphosine 2 (CAPS2), mRNA.	542	EF-hand 3.						calcium ion binding			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						CATTTTCTTATGTTTATAATA	0.299000												
ARHGAP30	257106	broad.mit.edu	37	1	161039355	161039355	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:161039355G>A	uc001fxl.3	-	0	406	c.60C>T	c.(58-60)tgC>tgT	p.C20C	ARHGAP30_uc001fxk.3_Silent_p.C20C|ARHGAP30_uc001fxm.3_5'UTR|ARHGAP30_uc009wtx.3_5'UTR|ARHGAP30_uc001fxn.1_5'UTR	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA.	20	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.C20C(3)		breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CCTGCAAGTCGCACCCAAAAA	0.637000												
ZNF557	79230	broad.mit.edu	37	19	7076449	7076449	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:7076449C>T	uc002mga.3	+	4	663	c.178C>T	c.(178-180)Ctg>Ttg	p.L60L	ZNF557_uc002mgb.3_Silent_p.L53L|ZNF557_uc002mgc.3_Silent_p.L60L	NM_024341	NP_077317	Q8N988	ZN557_HUMAN	Homo sapiens zinc finger protein 557 (ZNF557), transcript variant 1, mRNA.	53	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		GTGGGCATTGCTGGACCCTGC	0.542000												
LRP1	4035	broad.mit.edu	37	12	57595585	57595585	+	Silent	SNP	C	C	T	rs138672668		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:57595585C>T	uc001snd.3	+	66	10957	c.10491C>T	c.(10489-10491)gaC>gaT	p.D3497D		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	3497	LDL-receptor class A 25.				aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GTGGTGTGGACGAGTTCCGCT	0.627000												
OR5M8	219484	broad.mit.edu	37	11	56258342	56258342	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:56258342C>T	uc001nix.1	-	0	505	c.505G>A	c.(505-507)Ggc>Agc	p.G169S	OR8U8_uc001nit.2_Intron	NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 8 (OR5M8), mRNA.	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					TCATTGGGGCCACAGAAGGCT	0.498000												
STAT3	6774	broad.mit.edu	37	17	40476753	40476753	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:40476753T>C	uc002hzl.1	-	16	1816	c.1576A>G	c.(1576-1578)Act>Gct	p.T526A	STAT3_uc002hzk.1_Missense_Mutation_p.T526A|STAT3_uc002hzm.1_Missense_Mutation_p.T526A|STAT3_uc010wgh.1_Missense_Mutation_p.T428A|STAT3_uc002hzn.1_Missense_Mutation_p.T526A	NM_139276	NP_644805	P40763	STAT3_HUMAN	Homo sapiens signal transducer and activator of transcription 3 (acute-phase response factor) (STAT3), transcript variant 1, mRNA.	526					JAK-STAT cascade involved in growth hormone signaling pathway|cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		GCCAGTGTAGTCAGCTGCTCG	0.587000									Hyperimmunoglobulin E Recurrent Infection Syndrome			
DFNB59	494513	broad.mit.edu	37	2	179325727	179325727	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:179325727T>C	uc002umi.4	+	6	1141	c.785T>C	c.(784-786)gTc>gCc	p.V262A	MIR548N_uc021vsx.1_Intron|DFNB59_uc002umj.4_Missense_Mutation_p.V262A	NM_001042702	NP_001036167	Q0ZLH3	PJVK_HUMAN	Homo sapiens deafness, autosomal recessive 59 (DFNB59), mRNA.	262					sensory perception of sound					breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			GTGATGGATGTCATTTCTCGT	0.333000												
SLC22A14	9389	broad.mit.edu	37	3	38354921	38354921	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:38354921G>A	uc003cib.2	+	5	1181	c.1108G>A	c.(1108-1110)Gac>Aac	p.D370N	SLC22A14_uc010hhc.1_Missense_Mutation_p.D370N|SLC22A14_uc011ayo.1_Non-coding_Transcript	NM_004803	NP_004794	Q9Y267	S22AE_HUMAN	Homo sapiens solute carrier family 22, member 14 (SLC22A14), mRNA.	370						integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		CTCTGTCCTGGACTTCTGTAA	0.592000												
ITPRIPL1	150771	broad.mit.edu	37	2	96992605	96992605	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:96992605A>G	uc002svy.3	+	0	671	c.260A>G	c.(259-261)gAc>gGc	p.D87G	ITPRIPL1_uc002svx.3_Missense_Mutation_p.D79G|ITPRIPL1_uc010yuk.2_Missense_Mutation_p.D71G|ITPRIPL1_uc010yul.2_Missense_Mutation_p.D71G	NM_178495	NP_001156996	Q6GPH6	IPIL1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor interacting protein-like 1 (ITPRIPL1), transcript variant 1, mRNA.	79						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGGACAGGAGACACATCCAGT	0.572000												
PDE4DIP	9659	broad.mit.edu	37	1	144917533	144917533	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:144917533C>T	uc021ouh.1	-	11	1873	c.1571G>A	c.(1570-1572)cGc>cAc	p.R524H	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.R524H|PDE4DIP_uc001elx.4_Missense_Mutation_p.R590H|PDE4DIP_uc001emd.2_Missense_Mutation_p.R524H|PDE4DIP_uc001emc.2_Missense_Mutation_p.R524H|PDE4DIP_uc001emb.1_Missense_Mutation_p.R687H|PDE4DIP_uc001eme.1_Missense_Mutation_p.R53H	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	524					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding	p.R524H(2)|p.R687H(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GAGGACATCGCGCAGTCTCTC	0.458000			T	PDGFRB	MPD							
ZNF574	64763	broad.mit.edu	37	19	42584239	42584239	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:42584239G>A	uc002osk.4	+	1	1986	c.1751G>A	c.(1750-1752)cGc>cAc	p.R584H	ZNF574_uc002osm.4_Missense_Mutation_p.R494H|ZNF574_uc021uva.1_Missense_Mutation_p.R494H	NM_022752	NP_073589	Q6ZN55	ZN574_HUMAN	Homo sapiens zinc finger protein 574 (ZNF574), mRNA.	494					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				CTGGAGCGGCGCCATAAATGC	0.602000												
KIAA1549	57670	broad.mit.edu	37	7	138579249	138579249	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:138579249A>G	uc011kql.2	-	9	3920	c.3871T>C	c.(3871-3873)Tct>Cct	p.S1291P	KIAA1549_uc011kqi.2_Missense_Mutation_p.S75P|KIAA1549_uc011kqk.2_Missense_Mutation_p.S75P|KIAA1549_uc011kqj.2_Missense_Mutation_p.S1291P	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	1291						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GATTCCGGAGACGGCCTCTTC	0.483000			O	BRAF	pilocytic astrocytoma							
OR8U8	504189	broad.mit.edu	37	11	56143919	56143919	+	Missense_Mutation	SNP	G	G	A	rs140673261	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:56143919G>A	uc001nit.2	+	0	820	c.820G>A	c.(820-822)Gcc>Acc	p.A274T		NM_001013356	NP_001013374	P0C7N1	OR8U8_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily U, member 8 (OR8U8), mRNA.	274					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity										AGACAAGATGGCCTCTGTCTT	0.443000												
MYT1L	23040	broad.mit.edu	37	2	1855433	1855433	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:1855433G>A	uc002qxe.3	-	18	3581	c.2754C>T	c.(2752-2754)ggC>ggT	p.G918G	MYT1L_uc002qxd.3_Silent_p.G916G	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	918					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G918D(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		AAGCATAATTGCCGGTGATAT	0.423000												
DHRS3	9249	broad.mit.edu	37	1	12640620	12640620	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:12640620G>A	uc001auc.3	-	1	737	c.270C>T	c.(268-270)tgC>tgT	p.C90C	DHRS3_uc001aub.3_Silent_p.C5C|DHRS3_uc009vnm.3_Silent_p.C90C|DHRS3_uc001aud.4_Silent_p.C90C|DHRS3_uc001aue.1_Non-coding_Transcript	NM_004753	NP_004744	O75911	DHRS3_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 3 (DHRS3), mRNA.	90					retinol metabolic process|visual perception	integral to membrane	NADP-retinol dehydrogenase activity|electron carrier activity|nucleotide binding			cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1)	9	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	TGAAGTAATGGCACTCAGTGC	0.557000												
CACNA2D1	781	broad.mit.edu	37	7	81588645	81588645	+	Silent	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:81588645A>G	uc003uhr.1	-	37	3361	c.3105T>C	c.(3103-3105)gtT>gtC	p.V1035V	CACNA2D1_uc011kgy.1_Silent_p.V247V	NM_000722	NP_000713	P54289	CA2D1_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA.	1047						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	TGGGTTGCTTAACCATGTCAC	0.343000												
HTR1E	3354	broad.mit.edu	37	6	87725457	87725457	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:87725457G>A	uc003pli.3	+	1	1108	c.405G>A	c.(403-405)acG>acA	p.T135T	HTR1E_uc021zcg.1_Silent_p.T135T	NM_000865	NP_000856	P28566	5HT1E_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1E (HTR1E), mRNA.	135					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	GGAAGAGGACGGCCAAGAGGG	0.577000												
PNLIPRP3	119548	broad.mit.edu	37	10	118215275	118215275	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:118215275C>T	uc001lcl.4	+	4	599	c.498C>T	c.(496-498)ggC>ggT	p.G166G		NM_001011709	NP_001011709	Q17RR3	LIPR3_HUMAN	Homo sapiens pancreatic lipase-related protein 3 (PNLIPRP3), mRNA.	166					lipid catabolic process	extracellular region	triglyceride lipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		ACTTGATTGGCCACAGCTTGG	0.433000												
CSDA	8531	broad.mit.edu	37	12	10862618	10862618	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:10862618C>T	uc001qyt.3	-	5	912	c.669G>A	c.(667-669)ctG>ctA	p.L223L	CSDA_uc001qyu.3_Intron	NM_003651	NP_003642	P16989	DBPA_HUMAN	Homo sapiens cold shock domain protein A (CSDA), transcript variant 1, mRNA.	223					negative regulation of transcription from RNA polymerase II promoter|response to cold	cytoplasm|nucleus	double-stranded DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	19	Glioma(1;0.155)					GGGGGCGGCGCAGCTGATTCC	0.647000												
PTPRS	5802	broad.mit.edu	37	19	5206828	5206828	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:5206828G>A	uc002mbv.3	-	37	6038	c.5804C>T	c.(5803-5805)gCg>gTg	p.A1935V	PTPRS_uc002mbu.1_Intron|PTPRS_uc010xin.2_Missense_Mutation_p.A1477V|PTPRS_uc002mbw.3_Missense_Mutation_p.A1897V|PTPRS_uc002mbx.3_Missense_Mutation_p.A1492V|PTPRS_uc002mby.3_Missense_Mutation_p.A1488V	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA.	1935	Tyrosine-protein phosphatase 2.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		CTCCAGTGCCGCCTGGTAACA	0.622000												
ATP13A2	23400	broad.mit.edu	37	1	17314944	17314944	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:17314944C>T	uc001baa.2	-	23	2825	c.2635G>A	c.(2635-2637)Ggc>Agc	p.G879S	ATP13A2_uc001bac.2_Missense_Mutation_p.G835S|ATP13A2_uc001bab.2_Missense_Mutation_p.G874S	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN	Homo sapiens ATPase type 13A2 (ATP13A2), transcript variant 1, mRNA.	879					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		TCATTGGCGCCGTCTCCGCAC	0.622000												
FBXL3	26224	broad.mit.edu	37	13	77592810	77592810	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:77592810C>T	uc001vkd.3	-	2	767	c.396G>A	c.(394-396)tcG>tcA	p.S132S		NM_012158	NP_036290	Q9UKT7	FBXL3_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 3 (FBXL3), mRNA.	132					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|regulation of circadian rhythm|rhythmic process	SCF ubiquitin ligase complex|cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		TCACAAGTTGCGATAGTATAT	0.333000												
SPTBN2	6712	broad.mit.edu	37	11	66475077	66475077	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:66475077G>A	uc001ojd.3	-	11	1635	c.1563C>T	c.(1561-1563)gcC>gcT	p.A521A		NM_006946	NP_008877	O15020	SPTN2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 2 (SPTBN2), mRNA.	521					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CCCGCCGGGCGGCCACCATCT	0.637000												
SCNN1B	6338	broad.mit.edu	37	16	23364329	23364329	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:23364329C>T	uc002dln.3	+	2	695	c.519C>T	c.(517-519)ggC>ggT	p.G173G		NM_000336	NP_000327	P51168	SCNNB_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, beta (SCNN1B), mRNA.	173					excretion|sensory perception of taste	apical plasma membrane	WW domain binding|ligand-gated sodium channel activity			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)	ACCACAATGGCTTAACAAGCA	0.502000												
CIT	11113	broad.mit.edu	37	12	120142248	120142248	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:120142248G>A	uc001txj.2	-	40	5280	c.5224C>T	c.(5224-5226)Ctc>Ttc	p.L1742F	CIT_uc001txh.2_Missense_Mutation_p.L1219F|CIT_uc001txi.2_Missense_Mutation_p.L1700F	NM_001206999	NP_001193928	O14578	CTRO_HUMAN	Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA.	1700	CNH.				intracellular signal transduction		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CAGATGCAGAGCCCGTTCTCA	0.507000												
DPCR1	135656	broad.mit.edu	37	6	30918709	30918709	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:30918709C>A	uc003nsg.2	+	1	2468	c.2468C>A	c.(2467-2469)aCa>aAa	p.T823K		NM_080870	NP_543146	Q3MIW9	DPCR1_HUMAN	Homo sapiens diffuse panbronchiolitis critical region 1 (DPCR1), mRNA.	388						integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						GCAGAGCCTACAGAAAATAGA	0.488000												
MLL	4297	broad.mit.edu	37	11	118373253	118373253	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:118373253A>G	uc001pta.3	+	26	6660	c.6637A>G	c.(6637-6639)Atg>Gtg	p.M2213V	MLL_uc001ptb.3_Missense_Mutation_p.M2216V	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	2213					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		AATGTCTCCAATGAGAACTGG	0.478000			"""T, O"""	"""MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"""	"""AML, ALL"""							
C14orf49	161176	broad.mit.edu	37	14	95922035	95922035	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:95922035G>A	uc001yei.4	-	4	831	c.816C>T	c.(814-816)ggC>ggT	p.G272G	C14orf49_uc010avi.3_Silent_p.G272G|C14orf49_uc001yej.1_Silent_p.G272G	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN	Homo sapiens chromosome 14 open reading frame 49 (C14orf49), mRNA.	272					cytoskeletal anchoring at nuclear membrane	SUN-KASH complex|integral to membrane|nuclear outer membrane	actin binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(27)|prostate(5)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	50		all_cancers(154;0.0937)		COAD - Colon adenocarcinoma(157;0.245)		GAGACTCCTCGCCCCTGGGAA	0.527000												
VPRBP	9730	broad.mit.edu	37	3	51475546	51475546	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:51475546C>T	uc003dbe.2	-	7	1066	c.881G>A	c.(880-882)cGc>cAc	p.R294H	VPRBP_uc021wys.1_Missense_Mutation_p.R293H|VPRBP_uc003dbg.2_Missense_Mutation_p.R294H	NM_014703	NP_055518	Q9Y4B6	VPRBP_HUMAN	Homo sapiens Vpr (HIV-1) binding protein (VPRBP), transcript variant 1, mRNA.	294					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		AACAAACATGCGATCTGGATC	0.433000												
FMNL1	752	broad.mit.edu	37	17	43315992	43315992	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:43315992A>G	uc002iin.3	+	9	1156	c.956A>G	c.(955-957)aAc>aGc	p.N319S	FMNL1_uc002iiq.3_5'Flank	NM_005892	NP_005883	O95466	FMNL_HUMAN	Homo sapiens formin-like 1 (FMNL1), mRNA.	319	GBD/FH3.				actin cytoskeleton organization		Rho GTPase binding|actin binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						GAGGACAGCAACATCGACTTC	0.597000												
SP5	389058	broad.mit.edu	37	2	171573002	171573002	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:171573002G>A	uc002uge.3	+	1	451	c.285G>A	c.(283-285)acG>acA	p.T95T	LOC440925_uc002ugd.2_5'Flank	NM_001003845	NP_001003845	Q6BEB4	SP5_HUMAN	Homo sapiens Sp5 transcription factor (SP5), mRNA.	95					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|lung(1)|prostate(1)	5						TGGGGCTGACGCCGCAGAAGA	0.716000												
CHD4	1108	broad.mit.edu	37	12	6711240	6711240	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:6711240G>A	uc001qpo.3	-	3	488	c.324C>T	c.(322-324)agC>agT	p.S108S	CHD4_uc001qpn.3_Silent_p.S101S|CHD4_uc001qpp.3_Silent_p.S105S	NM_001273	NP_001264	Q14839	CHD4_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA.	108					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						GAGTATAGTCGCTGCCCTCAC	0.557000												
AGPAT3	56894	broad.mit.edu	37	21	45401010	45401010	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr21:45401010C>T	uc002zdx.3	+	9	1910	c.1245C>T	c.(1243-1245)ggC>ggT	p.G415G	AGPAT3_uc002zdv.3_Silent_p.G328G|AGPAT3_uc002zdw.3_Silent_p.G328G|AGPAT3_uc002zdy.3_Silent_p.G266G	NM_020132	NP_064517	Q9NRZ7	PLCC_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 3 (AGPAT3), transcript variant 1, mRNA.	328					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		TTGTCTTGGGCGTCTTTGCCA	0.577000												
OCRL	4952	broad.mit.edu	37	X	128718327	128718327	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:128718327G>A	uc004euq.3	+	18	2287	c.2122G>A	c.(2122-2124)Gac>Aac	p.D708N	OCRL_uc004eur.3_Intron	NM_000276	NP_000267	Q01968	OCRL_HUMAN	Homo sapiens oculocerebrorenal syndrome of Lowe (OCRL), transcript variant a, mRNA.	708					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi stack|Golgi-associated vesicle|clathrin-coated vesicle|cytosol|early endosome	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						TCAGGAAGAAGACAGCTTCCT	0.393000												
ZNF74	7625	broad.mit.edu	37	22	20759892	20759892	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:20759892G>A	uc010gsm.3	+	5	781	c.569G>A	c.(568-570)cGc>cAc	p.R190H	ZNF74_uc002zsg.3_Missense_Mutation_p.R119H|ZNF74_uc002zsh.3_Missense_Mutation_p.R190H|ZNF74_uc002zsi.3_Missense_Mutation_p.R119H|ZNF74_uc010gsn.3_Missense_Mutation_p.R119H	NM_003426	NP_003417	Q16587	ZNF74_HUMAN	Homo sapiens zinc finger protein 74 (ZNF74), transcript variant 1, mRNA.	190					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding	p.R190C(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GCCCAGCAACGCGTTCCCGAG	0.667000												
HIST3H2A	92815	broad.mit.edu	37	1	228645350	228645350	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:228645350C>T	uc001hsy.3	-	0	211	c.169G>A	c.(169-171)Gag>Aag	p.E57K	HIST3H2BB_uc001hsz.3_5'Flank	NM_033445	NP_254280	Q7L7L0	H2A3_HUMAN	Homo sapiens histone cluster 3, H2a (HIST3H2A), mRNA.	57					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|lung(3)|ovary(1)	5		Prostate(94;0.183)				GTCAAGTACTCGAGCACCGCG	0.687000												
CLLU1OS	574016	broad.mit.edu	37	12	92814871	92814871	+	Missense_Mutation	SNP	G	G	A	rs147336226		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:92814871G>A	uc001tcb.1	-	2	223	c.221C>T	c.(220-222)gCg>gTg	p.A74V	CLLU1_uc001tcc.2_5'Flank|CLLU1_uc001tcd.2_5'Flank|CLLU1_uc001tce.1_5'Flank|CLLU1_uc001tcf.2_5'Flank	NM_001025232	NP_001020403	Q5K130	CLU1O_HUMAN	Homo sapiens chronic lymphocytic leukemia up-regulated 1 opposite strand (CLLU1OS), mRNA.	74										large_intestine(1)|lung(7)	8						TCCTTTGCCCGCTCTCACATA	0.428000												
SRGAP1	57522	broad.mit.edu	37	12	64505708	64505708	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:64505708G>T	uc010ssp.1	+	16	2142	c.2086G>T	c.(2086-2088)Gat>Tat	p.D696Y	SRGAP1_uc001srv.2_Missense_Mutation_p.D633Y	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 1 (SRGAP1), mRNA.	696					axon guidance	cytosol		p.P695S(1)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		TATTTTCCCAGATGCTAAAGA	0.413000												
SACS	26278	broad.mit.edu	37	13	23909914	23909914	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:23909914G>A	uc001uon.2	-	9	8690	c.8101C>T	c.(8101-8103)Cct>Tct	p.P2701S	SACS_uc001uoo.2_Missense_Mutation_p.P2554S|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	2701					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TTACGAAGAGGAAATCTGAAC	0.403000												
LARP4	113251	broad.mit.edu	37	12	50856385	50856385	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:50856385G>A	uc001rwp.2	+	11	1557	c.1355G>A	c.(1354-1356)cGa>cAa	p.R452Q	LARP4_uc001rwq.2_Missense_Mutation_p.R381Q|LARP4_uc001rwt.2_Missense_Mutation_p.R310Q|LARP4_uc001rws.2_Missense_Mutation_p.R451Q|LARP4_uc001rwr.2_Missense_Mutation_p.R381Q|LARP4_uc021qxv.1_Missense_Mutation_p.R382Q|LARP4_uc009zlr.1_Missense_Mutation_p.R271Q	NM_052879	NP_443111	Q71RC2	LARP4_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 4 (LARP4), transcript variant 1, mRNA.	452							RNA binding|nucleotide binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						TTCAGAGGTCGAAGACGACGA	0.383000												
DNAH7	56171	broad.mit.edu	37	2	196673563	196673563	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:196673563C>T	uc002utj.4	-	52	10027	c.9926G>A	c.(9925-9927)gGc>gAc	p.G3309D		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3309					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						CAGTCCAATGCCACCAGTTAG	0.408000												
XPR1	9213	broad.mit.edu	37	1	180780557	180780557	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:180780557G>T	uc001goi.3	+	6	888	c.696G>T	c.(694-696)tgG>tgT	p.W232C	XPR1_uc009wxm.2_Missense_Mutation_p.W232C|XPR1_uc009wxn.3_Missense_Mutation_p.W232C	NM_004736	NP_004727	Q9UBH6	XPR1_HUMAN	Homo sapiens xenotropic and polytropic retrovirus receptor 1 (XPR1), transcript variant 1, mRNA.	232						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						CACCAGCATGGACTACTTTTA	0.328000												
MOCOS	55034	broad.mit.edu	37	18	33785068	33785068	+	Silent	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:33785068C>A	uc002kzq.4	+	5	1070	c.1047C>A	c.(1045-1047)acC>acA	p.T349T		NM_017947	NP_060417	Q96EN8	MOCOS_HUMAN	Homo sapiens molybdenum cofactor sulfurase (MOCOS), mRNA.	349					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	Mo-molybdopterin cofactor sulfurase activity|lyase activity|molybdenum ion binding|pyridoxal phosphate binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43					Pyridoxal Phosphate(DB00114)	AGCAGCACACCTTCACCTTGG	0.438000												
IGF1R	3480	broad.mit.edu	37	15	99500550	99500550	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:99500550G>A	uc002bul.3	+	20	4033	c.3983G>A	c.(3982-3984)gGc>gAc	p.G1328D	IGF1R_uc010bon.3_Missense_Mutation_p.G1327D	NM_000875	NP_000866	P08069	IGF1R_HUMAN	Homo sapiens insulin-like growth factor 1 receptor (IGF1R), mRNA.	1328					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of cell proliferation|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	GCCGAGAACGGCCCCGGCCCT	0.687000												
PSMA2	5683	broad.mit.edu	37	7	42967003	42967003	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:42967003C>T	uc003thy.3	-	1	145	c.97G>A	c.(97-99)Gcc>Acc	p.A33T	C7orf25_uc010kxr.3_5'UTR|PSMA2_uc003thz.1_Intron	NM_002787	NP_002778	P25787	PSA2_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, alpha type, 2 (PSMA2), mRNA.	33					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|response to virus|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)	10						ACGGACGGGGCTCCTCCAGCT	0.358000												
NID1	4811	broad.mit.edu	37	1	236228195	236228195	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:236228195G>A	uc001hxo.3	-	0	287	c.185C>T	c.(184-186)gCg>gTg	p.A62V	NID1_uc009xgd.3_Missense_Mutation_p.A62V|AX747246_uc001hxp.1_Silent_p.A112A	NM_002508	NP_002499	P14543	NID1_HUMAN	Homo sapiens nidogen 1 (NID1), mRNA.	62					cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	GAAGCGGAGCGCCCCACTCAG	0.716000												
OR7C2	26658	broad.mit.edu	37	19	15052847	15052847	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:15052847G>A	uc010xoc.2	+	0	547	c.547G>A	c.(547-549)Gaa>Aaa	p.E183K		NM_012377	NP_036509	O60412	OR7C2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily C, member 2 (OR7C2), mRNA.	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					TGATCCTTCCGAAGTCCTGAA	0.443000												
ZNF510	22869	broad.mit.edu	37	9	99522503	99522503	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:99522503G>A	uc004awn.1	-	5	798	c.609C>T	c.(607-609)tgC>tgT	p.C203C	ZNF510_uc004awo.1_Silent_p.C203C	NM_014930	NP_055745	Q9Y2H8	ZN510_HUMAN	Homo sapiens zinc finger protein 510 (ZNF510), mRNA.	203					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				ATACATTACCGCAACCTATTT	0.294000												
PARN	5073	broad.mit.edu	37	16	14576504	14576504	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:14576504C>T	uc010uzd.2	-	21	1807	c.1661G>A	c.(1660-1662)cGc>cAc	p.R554H	PARN_uc010uzc.2_Missense_Mutation_p.R493H|PARN_uc010uze.2_Missense_Mutation_p.R508H|PARN_uc010uzf.2_Missense_Mutation_p.R379H	NM_002582	NP_001127949	O95453	PARN_HUMAN	Homo sapiens poly(A)-specific ribonuclease (PARN), transcript variant 1, mRNA.	554					RNA modification|female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleolus	mRNA 3'-UTR binding|metal ion binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						CCTATTGTTGCGGTAATAGTG	0.428000												
SFMBT1	51460	broad.mit.edu	37	3	52966139	52966139	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:52966139A>T	uc003dgf.3	-	6	1262	c.639T>A	c.(637-639)gaT>gaA	p.D213E	SFMBT1_uc010hmr.3_Missense_Mutation_p.D160E|SFMBT1_uc003dgg.3_Missense_Mutation_p.D213E|SFMBT1_uc003dgh.3_Missense_Mutation_p.D213E	NM_001005159	NP_057413	Q9UHJ3	SMBT1_HUMAN	Homo sapiens Scm-like with four mbt domains 1 (SFMBT1), transcript variant 1, mRNA.	213					regulation of transcription, DNA-dependent	nucleus				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		GAAGAAATGGATCCAAGTAAT	0.408000												
ZNF337	26152	broad.mit.edu	37	20	25657197	25657197	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:25657197G>A	uc002wva.3	-	3	1249	c.727C>T	c.(727-729)Cga>Tga	p.R243*	ZNF337_uc002wuz.3_Non-coding_Transcript|ZNF337_uc010ztg.2_Nonsense_Mutation_p.R211*|ZNF337_uc002wvc.3_Nonsense_Mutation_p.R243*	NM_015655	NP_056470			Homo sapiens zinc finger protein 337 (ZNF337), mRNA.											breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTGAAGCCTCGCCCACACACA	0.532000												
ABLIM2	84448	broad.mit.edu	37	4	8010821	8010821	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:8010821G>A	uc003gko.3	-	13	1476	c.1333C>T	c.(1333-1335)Cga>Tga	p.R445*	ABLIM2_uc003gkk.3_Nonsense_Mutation_p.R108*|ABLIM2_uc003gkl.3_Nonsense_Mutation_p.R172*|ABLIM2_uc003gkm.4_Nonsense_Mutation_p.R393*|ABLIM2_uc003gkp.3_Nonsense_Mutation_p.R404*|ABLIM2_uc003gkq.3_Nonsense_Mutation_p.R445*|ABLIM2_uc003gkr.3_Nonsense_Mutation_p.R393*|ABLIM2_uc003gkj.4_Nonsense_Mutation_p.R478*|ABLIM2_uc003gks.3_Nonsense_Mutation_p.R404*	NM_001130084	NP_001123556	Q6H8Q1	ABLM2_HUMAN	Homo sapiens actin binding LIM protein family, member 2 (ABLIM2), transcript variant 2, mRNA.	445					axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						CCATCCGATCGCCTGGCAGCT	0.483000												
GRM5	2915	broad.mit.edu	37	11	88300351	88300351	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:88300351G>A	uc001pcq.3	-	6	2700	c.2500C>T	c.(2500-2502)Cgc>Tgc	p.R834C	GRM5_uc009yvm.3_Missense_Mutation_p.R834C	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	Homo sapiens glutamate receptor, metabotropic 5 (GRM5), transcript variant a, mRNA.	834					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.R834C(3)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	AAGGCGCTGCGCACGTTTCTC	0.572000												
TMEM79	84283	broad.mit.edu	37	1	156255748	156255748	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:156255748T>C	uc010phi.2	+	1	927	c.731T>C	c.(730-732)gTc>gCc	p.V244A	TMEM79_uc001fod.3_Missense_Mutation_p.V85A|TMEM79_uc009wrw.3_Missense_Mutation_p.V244A	NM_032323	NP_115699	Q9BSE2	TMM79_HUMAN	Homo sapiens transmembrane protein 79 (TMEM79), transcript variant 1, mRNA.	244						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21	Hepatocellular(266;0.158)					CGCTGCGGGGTCTTTGCCACC	0.607000												
KLHL28	54813	broad.mit.edu	37	14	45400591	45400591	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:45400591G>A	uc001wvq.3	-	3	1743	c.1497C>T	c.(1495-1497)taC>taT	p.Y499Y	KLHL28_uc001wvr.3_Silent_p.Y499Y	NM_017658	NP_060128	Q9NXS3	KLH28_HUMAN	Homo sapiens kelch-like 28 (Drosophila) (KLHL28), mRNA.	499										breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GATGAGGATCGTATCTTTCAA	0.378000												
DUSP21	63904	broad.mit.edu	37	X	44703683	44703683	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:44703683C>T	uc004dgd.3	+	0	435	c.305C>T	c.(304-306)aCg>aTg	p.T102M		NM_022076	NP_071359	Q9H596	DUS21_HUMAN	Homo sapiens dual specificity phosphatase 21 (DUSP21), mRNA.	102	Sufficient for mitochondrial localization (By similarity).|Tyrosine-protein phosphatase.					cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|skin(3)	19						CAGGGCCGTACGCTGCTGCAC	0.547000												
PTPRK	5796	broad.mit.edu	37	6	128505866	128505866	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:128505866C>T	uc003qbk.3	-	6	1240	c.873G>A	c.(871-873)ccG>ccA	p.P291P	PTPRK_uc010kfc.3_Silent_p.P291P|PTPRK_uc003qbj.3_Silent_p.P291P|PTPRK_uc011ebu.2_Silent_p.P291P|PTPRK_uc003qbl.1_Silent_p.P161P|PTPRK_uc011ebv.1_Silent_p.P291P	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	291	Fibronectin type-III 1.				cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TGGGTCTTGGCGGTTCTAGGA	0.398000												
DHX16	8449	broad.mit.edu	37	6	30633376	30633376	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:30633376C>T	uc003nqz.3	-	4	1013	c.801G>A	c.(799-801)cgG>cgA	p.R267R	DHX16_uc011dmo.2_Silent_p.R207R	NM_003587	NP_003578	O60231	DHX16_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 16 (DHX16), transcript variant 1, mRNA.	267					RNA splicing|mRNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA helicase activity|nucleic acid binding			kidney(2)|ovary(2)	4						TGAGCTCCTGCCGCTCGTGCC	0.632000												
SPEN	23013	broad.mit.edu	37	1	16257770	16257770	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:16257770G>A	uc001axk.1	+	10	5239	c.5035G>A	c.(5035-5037)Gtc>Atc	p.V1679I	SPEN_uc010obp.1_Missense_Mutation_p.V1638I	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	1679					Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GCCAGCTACCGTCTCAGAAGA	0.537000												
SERPINB9	5272	broad.mit.edu	37	6	2900805	2900805	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:2900805C>T	uc003mug.3	-	1	162	c.41G>A	c.(40-42)cGc>cAc	p.R14H	AY927512_uc003mue.3_Non-coding_Transcript|SERPINB9_uc003muh.3_Missense_Mutation_p.R14H	NM_004155	NP_004146	P50453	SPB9_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 9 (SERPINB9), mRNA.	14					anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis	cytosol|extracellular space|nucleus	caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				CTTTAAAAGGCGTATGGCAAA	0.468000												
STC1	6781	broad.mit.edu	37	8	23702305	23702305	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:23702305C>T	uc003xdw.1	-	3	1006	c.722G>A	c.(721-723)cGc>cAc	p.R241H		NM_003155	NP_003146	P52823	STC1_HUMAN	Homo sapiens stanniocalcin 1 (STC1), mRNA.	241					cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity	p.R241H(2)		breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		ATGGGATGTGCGTTTGATGTG	0.507000												
TTC39A	22996	broad.mit.edu	37	1	51767382	51767382	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:51767382G>A	uc001csl.3	-	11	1128	c.1023C>T	c.(1021-1023)tgC>tgT	p.C341C	TTC39A_uc001csk.3_Silent_p.C306C|TTC39A_uc010ond.2_Silent_p.C278C|TTC39A_uc010one.2_Silent_p.C305C|TTC39A_uc010onf.2_Silent_p.C309C|TTC39A_uc001csn.3_Silent_p.C340C|TTC39A_uc001cso.1_3'UTR|TTC39A_uc009vyy.1_Silent_p.C278C	NM_001080494	NP_001073963	Q5SRH9	TT39A_HUMAN	Homo sapiens tetratricopeptide repeat domain 39A (TTC39A), transcript variant 2, mRNA.	341							binding	p.0?(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						GGGCCTCACAGCACTCCTCGA	0.607000												
GOLGA4	2803	broad.mit.edu	37	3	37388776	37388776	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:37388776C>T	uc003cgv.3	+	20	6925	c.6565C>T	c.(6565-6567)Cgt>Tgt	p.R2189C	GOLGA4_uc003cgw.3_Missense_Mutation_p.R2204C|GOLGA4_uc010hgs.3_Intron|GOLGA4_uc003cgx.3_Missense_Mutation_p.R2070C	NM_002078	NP_002069	Q13439	GOGA4_HUMAN	Homo sapiens golgin A4 (GOLGA4), transcript variant 2, mRNA.	2189	GRIP.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	p.G2188G(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TATGATGGGTCGTGAGACTAA	0.368000												
PKHD1	5314	broad.mit.edu	37	6	51900433	51900433	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:51900433C>T	uc003pah.1	-	27	3460	c.3184G>A	c.(3184-3186)Gct>Act	p.A1062T	PKHD1_uc003pai.3_Missense_Mutation_p.A1062T	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	1062	IPT/TIG 5.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TTGCTTGTAGCGACATTGATG	0.448000												
MVK	4598	broad.mit.edu	37	12	110019211	110019211	+	Missense_Mutation	SNP	G	G	A	rs104895310		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:110019211G>A	uc001toy.4	+	4	567	c.383G>A	c.(382-384)aGc>aAc	p.S128N	MVK_uc009zvk.3_Missense_Mutation_p.S128N|MVK_uc010sxr.2_Intron|MVK_uc001toz.4_Intron|MVK_uc021rdo.1_Missense_Mutation_p.S128N|MVK_uc001tpc.4_Non-coding_Transcript	NM_001114185	NP_001107657	Q03426	KIME_HUMAN	Homo sapiens mevalonate kinase (MVK), transcript variant 2, mRNA.	128					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|peroxisome	ATP binding|identical protein binding|mevalonate kinase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8						GCCCTGCCGAGCCTGGATATC	0.682000												
A1CF	29974	broad.mit.edu	37	10	52575861	52575861	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:52575861G>A	uc001jjj.3	-	8	1234	c.1046C>T	c.(1045-1047)gCc>gTc	p.A349V	A1CF_uc010qho.2_Missense_Mutation_p.A357V|A1CF_uc010qhn.2_Missense_Mutation_p.A357V|A1CF_uc009xov.3_Missense_Mutation_p.A349V|A1CF_uc001jji.3_Missense_Mutation_p.A349V|A1CF_uc001jjh.3_Missense_Mutation_p.A357V	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA.	349					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	p.A349D(2)|p.A357D(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						GGTCTGGGGGGCATAGAAGAC	0.517000												
PPIP5K2	23262	broad.mit.edu	37	5	102474135	102474135	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:102474135G>A	uc003kod.4	+	4	968	c.449G>A	c.(448-450)cGt>cAt	p.R150H	PPIP5K2_uc011cva.2_Non-coding_Transcript|PPIP5K2_uc003koe.3_Missense_Mutation_p.R150H|PPIP5K2_uc010jbo.2_Missense_Mutation_p.R72H	NM_015216	NP_056031	O43314	VIP2_HUMAN	Homo sapiens diphosphoinositol pentakisphosphate kinase 2 (PPIP5K2), mRNA.	150					inositol metabolic process	cytosol	ATP binding|acid phosphatase activity|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						TTACTTCCTCGTTATGCTATT	0.363000												
TNRC6B	23112	broad.mit.edu	37	22	40717102	40717102	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:40717102G>A	uc011aor.2	+	21	5194	c.4983G>A	c.(4981-4983)ggG>ggA	p.G1661G	TNRC6B_uc003aym.3_Silent_p.G857G|TNRC6B_uc003ayn.4_Silent_p.G1551G|TNRC6B_uc003ayo.3_Silent_p.G1408G	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	Homo sapiens trinucleotide repeat containing 6B (TNRC6B), transcript variant 1, mRNA.	1661	RRM.				gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	RNA binding|nucleotide binding			breast(1)	1						AGATTGATGGGTCAACCTTGA	0.473000												
C3orf20	84077	broad.mit.edu	37	3	14724291	14724291	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:14724291G>A	uc003byy.3	+	2	523	c.71G>A	c.(70-72)cGc>cAc	p.R24H	C3orf20_uc003byz.3_Intron|C3orf20_uc003bza.3_Intron|C3orf20_uc003byx.2_Missense_Mutation_p.R24H	NM_032137	NP_001171887	Q8ND61	CC020_HUMAN	Homo sapiens chromosome 3 open reading frame 20 (C3orf20), transcript variant 1, mRNA.	24						cytoplasm|integral to membrane		p.R24H(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						CTACTGGCCCGCATCTCCAAA	0.463000												
TNXB	7148	broad.mit.edu	37	6	32017064	32017064	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:32017064G>A	uc003nzl.2	-	27	9936	c.9734C>T	c.(9733-9735)tCc>tTc	p.S3245F	TNXB_uc003nzh.1_5'Flank	NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	3292	Fibronectin type-III 24.				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						GCCCACGGTGGACACTGGGCC	0.647000												
MGAT5	4249	broad.mit.edu	37	2	135185968	135185968	+	Silent	SNP	C	C	T	rs146926321	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:135185968C>T	uc002ttw.4	+	13	1972	c.1827C>T	c.(1825-1827)tgC>tgT	p.C609C		NM_002410	NP_002401	Q09328	MGT5A_HUMAN	Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase (MGAT5), mRNA.	609					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		AATTTACGTGCGAGGGGATGC	0.453000												
TLN2	83660	broad.mit.edu	37	15	63019352	63019352	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:63019352C>T	uc002alb.4	+	24	3322	c.3322C>T	c.(3322-3324)Ctg>Ttg	p.L1108L		NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	1108	Ala-rich.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GGCACAGCTGCTGACCTGTGC	0.562000												
NUMA1	4926	broad.mit.edu	37	11	71725779	71725779	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:71725779G>A	uc001orl.1	-	14	2942	c.2770C>T	c.(2770-2772)Cgc>Tgc	p.R924C	NUMA1_uc009ysw.1_Missense_Mutation_p.R487C|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Missense_Mutation_p.R924C|NUMA1_uc001orn.2_Missense_Mutation_p.R487C|NUMA1_uc009ysx.1_Missense_Mutation_p.R924C|NUMA1_uc001oro.1_Missense_Mutation_p.R924C	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	Homo sapiens nuclear mitotic apparatus protein 1 (NUMA1), mRNA.	924					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	p.R924H(1)		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						CCTGCCTTGCGCACCAAGGTC	0.607000			T	RARA	APL							
OLFML1	283298	broad.mit.edu	37	11	7509587	7509587	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:7509587C>T	uc001mfi.3	+	1	866	c.359C>T	c.(358-360)gCa>gTa	p.A120V	BC040358_uc001mff.1_Intron|OLFML1_uc010raz.2_Intron|OLFML1_uc010rba.2_Missense_Mutation_p.A120V	NM_198474	NP_940876	Q6UWY5	OLFL1_HUMAN	Homo sapiens olfactomedin-like 1 (OLFML1), mRNA.	120						extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2)	24				Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		AAGACACTGGCAGAAATGTTG	0.463000												
BCOR	54880	broad.mit.edu	37	X	39932705	39932705	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:39932705C>T	uc004den.4	-	3	2186	c.1894G>A	c.(1894-1896)Ggc>Agc	p.G632S	BCOR_uc004dep.4_Missense_Mutation_p.G632S|BCOR_uc004deo.4_Missense_Mutation_p.G632S|BCOR_uc004dem.4_Missense_Mutation_p.G632S|BCOR_uc004deq.4_Missense_Mutation_p.G632S	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	632					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GGTGGAAGGCCGTTCTCGTTT	0.587000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic					
KIAA0391	9692	broad.mit.edu	37	14	35739649	35739649	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:35739649C>T	uc001wsy.1	+	6	1827	c.1467C>T	c.(1465-1467)tcC>tcT	p.S489S	KIAA0391_uc010tps.1_Silent_p.S394S|KIAA0391_uc001wsz.1_Silent_p.S473S|KIAA0391_uc001wta.3_Non-coding_Transcript|KIAA0391_uc001wtc.1_Silent_p.S117S	NM_014672	NP_055487	O15091	MRRP3_HUMAN	Homo sapiens KIAA0391 (KIAA0391), mRNA.	489					tRNA processing	mitochondrion				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		CACTGCACTCCGGGAATCACT	0.527000												
RYR2	6262	broad.mit.edu	37	1	237780631	237780631	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:237780631C>G	uc001hyl.1	+	37	5881	c.5761C>G	c.(5761-5763)Cgg>Ggg	p.R1921G		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	1921	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGTCCGGCACCGGATAGAAGC	0.413000												
HIST1H3E	8353	broad.mit.edu	37	6	26225715	26225715	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:26225715C>T	uc003nhb.2	+	1	693	c.333C>T	c.(331-333)tgC>tgT	p.C111C	HIST1H3E_uc003nhc.4_Silent_p.C111C	NM_021018	NP_066298	P68431	H31_HUMAN	Homo sapiens histone cluster 1, H3f (HIST1H3F), mRNA.	111					S phase|blood coagulation|nucleosome assembly|regulation of gene silencing	nucleoplasm|nucleosome	DNA binding|protein binding	p.C111C(2)		endometrium(1)|large_intestine(1)|lung(5)|skin(1)	8		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)				CCAACCTGTGCGCTATTCATG	0.567000											OREG0017240	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48873848	48873848	+	Silent	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:48873848T>C	uc002rwp.2	+	7	2871	c.2757T>C	c.(2755-2757)agT>agC	p.S919S	STON1-GTF2A1L_uc021vhf.1_Silent_p.S919S|STON1-GTF2A1L_uc010yol.2_Silent_p.S872S|STON1-GTF2A1L_uc002rws.2_Silent_p.S215S|STON1-GTF2A1L_uc010yom.2_Silent_p.S181S	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA.	872					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ATGCCACCAGTGATATACTTG	0.413000												
OR10G3	26533	broad.mit.edu	37	14	22038134	22038134	+	Missense_Mutation	SNP	C	C	T	rs142649226	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:22038134C>T	uc010tmb.2	-	0	742	c.742G>A	c.(742-744)Gtg>Atg	p.V248M		NM_001005465	NP_001005465	Q8NGC4	O10G3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 3 (OR10G3), mRNA.	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V248M(2)|p.V248L(2)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15	all_cancers(95;0.000987)			GBM - Glioblastoma multiforme(265;0.0139)		ACGGTGACCACGGTTACATGG	0.577000												
DOM3Z	1797	broad.mit.edu	37	6	31938887	31938887	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:31938887G>A	uc003nyp.1	-	2	727	c.394C>T	c.(394-396)Cgg>Tgg	p.R132W	DOM3Z_uc003nyq.1_5'UTR|DOM3Z_uc010jtl.1_3'UTR|STK19_uc003nyt.3_5'Flank|STK19_uc011dow.2_5'Flank|STK19_uc011dox.1_5'Flank|STK19_uc003nyv.3_5'Flank|STK19_uc003nyw.3_5'Flank|STK19_uc010jtn.1_5'Flank	NM_005510	NP_005501	O77932	DOM3Z_HUMAN	Homo sapiens dom-3 homolog Z (C. elegans) (DOM3Z), mRNA.	132							identical protein binding|metal ion binding|nucleotide binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	7						AGGTGCCCCCGCCACGTCACT	0.597000												
TM9SF4	9777	broad.mit.edu	37	20	30745754	30745754	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:30745754A>G	uc002wxj.2	+	13	1722	c.1487A>G	c.(1486-1488)tAc>tGc	p.Y496C	TM9SF4_uc010zts.1_Missense_Mutation_p.Y403C|TM9SF4_uc002wxk.2_Missense_Mutation_p.Y479C	NM_014742	NP_055557	Q92544	TM9S4_HUMAN	Homo sapiens transmembrane 9 superfamily protein member 4 (TM9SF4), mRNA.	496						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CAGCGGTGGTACATGAACCGA	0.607000												
RNF207	388591	broad.mit.edu	37	1	6278394	6278394	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:6278394G>A	uc001amg.3	+	16	1872	c.1698G>A	c.(1696-1698)acG>acA	p.T566T	RNF207_uc010nzp.1_Non-coding_Transcript	NM_207396	NP_997279	Q6ZRF8	RN207_HUMAN	Homo sapiens ring finger protein 207 (RNF207), mRNA.	566						intracellular	zinc ion binding	p.T566M(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(2)	16	Ovarian(185;0.0634)	all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		TACAGAACACGCACGACGACA	0.592000												
KIAA0090	23065	broad.mit.edu	37	1	19566419	19566419	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:19566419G>A	uc001bbo.3	-	7	890	c.847C>T	c.(847-849)Cca>Tca	p.P283S	KIAA0090_uc001bbp.3_Missense_Mutation_p.P283S|KIAA0090_uc001bbq.3_Missense_Mutation_p.P283S|KIAA0090_uc001bbr.3_Missense_Mutation_p.P261S	NM_015047	NP_055862	Q8N766	K0090_HUMAN	Homo sapiens KIAA0090 (KIAA0090), mRNA.	283						integral to membrane	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	25		Colorectal(325;0.000147)|Renal(390;0.000469)|Breast(348;0.00366)|all_lung(284;0.00519)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;3.84e-05)|Kidney(64;0.000191)|KIRC - Kidney renal clear cell carcinoma(64;0.00274)|GBM - Glioblastoma multiforme(114;0.005)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0656)		GCGTCCACTGGGTTGGGCTGG	0.527000												
GPR161	23432	broad.mit.edu	37	1	168065850	168065850	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:168065850C>T	uc010pln.2	-	3	1589	c.1055G>A	c.(1054-1056)cGc>cAc	p.R352H	GPR161_uc001gfb.3_Missense_Mutation_p.R200H|GPR161_uc001gfc.3_Missense_Mutation_p.R332H|GPR161_uc010pll.2_Missense_Mutation_p.R242H|GPR161_uc010plm.2_Missense_Mutation_p.R218H|GPR161_uc009wvo.3_Missense_Mutation_p.R349H|GPR161_uc001gfd.3_Missense_Mutation_p.R332H|GPR161_uc001gfe.1_Missense_Mutation_p.R332H	NM_153832	NP_722561	Q8N6U8	GP161_HUMAN	Homo sapiens G protein-coupled receptor 161 (GPR161), transcript variant 2, mRNA.	332					multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					TAGTTCTTTGCGAACTGTCTT	0.552000												
PGC	5225	broad.mit.edu	37	6	41710065	41710065	+	Missense_Mutation	SNP	C	C	T	rs143935750	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:41710065C>T	uc003ora.2	-	4	677	c.610G>A	c.(610-612)Gcc>Acc	p.A204T	PGC_uc021yzm.1_Missense_Mutation_p.A204T	NM_002630	NP_002621	P20142	PEPC_HUMAN	Homo sapiens progastricsin (pepsinogen C) (PGC), transcript variant 1, mRNA.	204					digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity	p.A204A(1)		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)			CTGGTGAGGGCGCCCTCCTGC	0.652000												
TM4SF19	116211	broad.mit.edu	37	3	196054415	196054415	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:196054415C>T	uc010iad.2	-	1	205	c.47G>A	c.(46-48)cGt>cAt	p.R16H	TM4SF19_uc003fwj.3_Non-coding_Transcript|TM4SF19_uc003fwl.2_Missense_Mutation_p.R16H|TM4SF19_uc021xjs.1_Missense_Mutation_p.R16H|TM4SF19_uc011btv.2_Missense_Mutation_p.R16H	NM_001204897	NP_001191826	Q96DZ7	T4S19_HUMAN	Homo sapiens transmembrane 4 L six family member 19 (TM4SF19), transcript variant 2, mRNA.	16						integral to membrane				endometrium(2)|kidney(2)|large_intestine(3)|lung(5)	12	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		TCCCAGGATACGGGAGCAAGT	0.607000												
NUP205	23165	broad.mit.edu	37	7	135304191	135304191	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:135304191G>A	uc003vsw.3	+	28	4015	c.3984G>A	c.(3982-3984)gcG>gcA	p.A1328A		NM_015135	NP_055950	Q92621	NU205_HUMAN	Homo sapiens nucleoporin 205kDa (NUP205), mRNA.	1328					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						ATGAAGCTGCGCAAGAGTTAA	0.443000												
ABCG2	9429	broad.mit.edu	37	4	89039273	89039273	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:89039273A>C	uc003hrg.3	-	6	1322	c.829T>G	c.(829-831)Ttt>Gtt	p.F277V	ABCG2_uc003hrh.3_Missense_Mutation_p.F277V|ABCG2_uc003hrf.3_Missense_Mutation_p.F147V	NM_004827	NP_004818	Q9UNQ0	ABCG2_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 2 (ABCG2), mRNA.	277	ABC transporter.				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	GCTGATTCAAAGTATCCCAAG	0.458000												
SLC8A3	6547	broad.mit.edu	37	14	70634125	70634125	+	Missense_Mutation	SNP	C	C	T	rs138512128	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:70634125C>T	uc001xly.3	-	1	1769	c.1015G>A	c.(1015-1017)Gcc>Acc	p.A339T	SLC8A3_uc001xlw.3_Missense_Mutation_p.A339T|SLC8A3_uc001xlx.3_Missense_Mutation_p.A339T|SLC8A3_uc001xlz.3_Missense_Mutation_p.A339T|SLC8A3_uc010ara.3_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	339					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TAGTAATTGGCCATCTCCACC	0.493000												
ANKRD27	84079	broad.mit.edu	37	19	33096798	33096798	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:33096798C>T	uc002ntn.1	-	23	2592	c.2436G>A	c.(2434-2436)acG>acA	p.T812T		NM_032139	NP_115515	Q96NW4	ANR27_HUMAN	Homo sapiens ankyrin repeat domain 27 (VPS9 domain) (ANKRD27), mRNA.	812					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					AAATGAGGGGCGTGTTTCCAC	0.522000												
RBPJL	11317	broad.mit.edu	37	20	43940918	43940918	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:43940918C>T	uc002xns.3	+	5	574	c.502C>T	c.(502-504)Cgg>Tgg	p.R168W	RBPJL_uc002xnt.3_Missense_Mutation_p.R168W	NM_014276	NP_055091	Q9UBG7	RBPJL_HUMAN	Homo sapiens recombination signal binding protein for immunoglobulin kappa J region-like (RBPJL), mRNA.	168					signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				GAAGCACTTTcggctggtgct	0.617000												
CYP2J2	1573	broad.mit.edu	37	1	60375619	60375619	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:60375619A>G	uc001czq.3	-	4	703	c.698T>C	c.(697-699)tTt>tCt	p.F233S		NM_000775	NP_000766	P51589	CP2J2_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily J, polypeptide 2 (CYP2J2), mRNA.	233					epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)					TATCCATGGAAAGACATTGTA	0.358000												
OLFM4	10562	broad.mit.edu	37	13	53624246	53624246	+	Silent	SNP	G	G	A	rs147184057		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:53624246G>A	uc001vhl.3	+	4	969	c.873G>A	c.(871-873)gcG>gcA	p.A291A	OLFM4_uc001vhk.2_Intron	NM_006418	NP_006409	Q6UX06	OLFM4_HUMAN	Homo sapiens olfactomedin 4 (OLFM4), mRNA.	291	Olfactomedin-like.				cell adhesion	extracellular space				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		ATTGGGTGGCGCCATTGAATA	0.448000												
HS3ST1	9957	broad.mit.edu	37	4	11401090	11401090	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:11401090G>A	uc003gmq.3	-	1	863	c.540C>T	c.(538-540)cgC>cgT	p.R180R	HS3ST1_uc021xmg.1_Silent_p.R180R	NM_005114	NP_005105	O14792	HS3S1_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 1 (HS3ST1), mRNA.	180						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						GCCTGCCATCGCGCACCAGGA	0.587000												
EBNA1BP2	10969	broad.mit.edu	37	1	43634619	43634619	+	Silent	SNP	G	G	A	rs142130646	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:43634619G>A	uc010ojx.2	-	5	842	c.693C>T	c.(691-693)taC>taT	p.Y231Y	EBNA1BP2_uc001cio.3_Silent_p.Y231Y|EBNA1BP2_uc001cin.3_Silent_p.Y176Y	NM_001159936	NP_006815	Q99848	EBP2_HUMAN	Homo sapiens EBNA1 binding protein 2 (EBNA1BP2), transcript variant 1, mRNA.	176					ribosome biogenesis	membrane fraction|nucleolus	protein binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCTTCTTCCCGTATTTCCTAA	0.493000												
RCOR2	283248	broad.mit.edu	37	11	63682282	63682282	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:63682282C>T	uc001nyc.3	-	4	713	c.325G>A	c.(325-327)Ggc>Agc	p.G109S		NM_173587	NP_775858	Q8IZ40	RCOR2_HUMAN	Homo sapiens REST corepressor 2 (RCOR2), mRNA.	109	ELM2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	17						AGAAGCATGCCCAGCGCCTGG	0.637000												
CYP2C19	1557	broad.mit.edu	37	10	96447543	96447543	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:96447543G>A	uc001kjv.4	+	1	511	c.185G>A	c.(184-186)gGc>gAc	p.G62D	CYP2C19_uc001kjw.4_Missense_Mutation_p.G62D|CYP2C19_uc009xus.1_5'Flank|CYP2C19_uc010qny.2_5'Flank	NM_000772	NP_000763	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA.	62					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	AAAGTCTATGGCCCTGTGTTC	0.403000												
ZC3H12C	85463	broad.mit.edu	37	11	110035523	110035523	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:110035523G>A	uc010rwc.2	+	5	1716	c.1716G>A	c.(1714-1716)acG>acA	p.T572T	ZC3H12C_uc009yxw.3_Silent_p.T571T|ZC3H12C_uc010rwd.2_Silent_p.T572T|ZC3H12C_uc001pkr.4_Silent_p.T540T	NM_033390	NP_203748	Q9C0D7	ZC12C_HUMAN	Homo sapiens zinc finger CCCH-type containing 12C (ZC3H12C), mRNA.	571							endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		ATCATGGAACGCCAATGCCTT	0.438000												
USP43	124739	broad.mit.edu	37	17	9559771	9559771	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:9559771G>A	uc010cod.3	+	1	556	c.556G>A	c.(556-558)Gcc>Acc	p.A186T	USP43_uc002gma.4_5'UTR|USP43_uc010vva.2_Missense_Mutation_p.A186T|USP43_uc010coe.3_Silent_p.T17T	NM_153210	NP_694942	Q70EL4	UBP43_HUMAN	Homo sapiens ubiquitin specific peptidase 43 (USP43), mRNA.	186					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.A187T(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						CCAGCACGACGCCCTGGAATT	0.517000												
CEP350	9857	broad.mit.edu	37	1	180010286	180010286	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:180010286G>A	uc001gnt.3	+	17	4507	c.4124G>A	c.(4123-4125)cGc>cAc	p.R1375H	CEP350_uc009wxl.2_Missense_Mutation_p.R1374H	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.	1375						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						CAACAGCAACGCCATGAAAGA	0.393000												
ZNF142	7701	broad.mit.edu	37	2	219503385	219503385	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:219503385G>A	uc002vin.3	-	9	5177	c.4741C>T	c.(4741-4743)Cgc>Tgc	p.R1581C	ZNF142_uc002vil.3_Missense_Mutation_p.R1542C|ZNF142_uc010fvt.3_Missense_Mutation_p.R1418C|ZNF142_uc002vim.3_Missense_Mutation_p.R1418C	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	Homo sapiens zinc finger protein 142 (ZNF142), mRNA.	1581					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AGGTGGGTGCGCAGCAGGAAG	0.617000												
KLHL12	59349	broad.mit.edu	37	1	202863757	202863757	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:202863757G>A	uc001gyo.1	-	8	1456	c.1256C>T	c.(1255-1257)gCc>gTc	p.A419V	KLHL12_uc001gym.1_Missense_Mutation_p.A152V|KLHL12_uc001gyn.1_Missense_Mutation_p.A269V|KLHL12_uc010pqc.1_Missense_Mutation_p.A457V|KLHL12_uc009xah.1_Missense_Mutation_p.A318V	NM_021633	NP_067646	Q53G59	KLH12_HUMAN	Homo sapiens kelch-like 12 (Drosophila) (KLHL12), mRNA.	419	Interaction with DVL3.				Wnt receptor signaling pathway		protein binding			NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			TACGAGTCCGGCACCTTCCCG	0.542000												
PAK7	57144	broad.mit.edu	37	20	9546783	9546783	+	Silent	SNP	C	C	T	rs140739060	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:9546783C>T	uc002wnl.2	-	5	1784	c.1239G>A	c.(1237-1239)ccG>ccA	p.P413P	PAK7_uc002wnk.2_Silent_p.P413P|PAK7_uc002wnj.2_Silent_p.P413P|PAK7_uc010gby.1_Silent_p.P413P	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	413	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity	p.P413L(1)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CCCAGCTGGGCGGCGGGTAGG	0.657000												
TRRAP	8295	broad.mit.edu	37	7	98586514	98586514	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:98586514C>T	uc003upp.3	+	61	9737	c.9528C>T	c.(9526-9528)ggC>ggT	p.G3176G	TRRAP_uc011kis.2_Silent_p.G3147G|TRRAP_uc003upr.3_Silent_p.G2864G	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	3176	FAT.				histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGCACCTGGGCGTGTCTGCCA	0.562000												
LRBA	987	broad.mit.edu	37	4	151336636	151336636	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:151336636G>A	uc010ipj.3	-	47	7425	c.7181C>T	c.(7180-7182)cCt>cTt	p.P2394L	LRBA_uc010ipi.3_Intron|LRBA_uc003ils.4_Missense_Mutation_p.P284L|LRBA_uc003ilt.4_Missense_Mutation_p.P1042L|LRBA_uc003ilu.4_Missense_Mutation_p.P2383L	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	2394	BEACH.					Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					GGCCCAAGGAGGAAGTTCGAC	0.373000												
NEXN	91624	broad.mit.edu	37	1	78383873	78383873	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:78383873C>T	uc001dic.4	+	4	659	c.362C>T	c.(361-363)aCg>aTg	p.T121M	NEXN_uc001dia.3_Missense_Mutation_p.T121M|NEXN_uc009wcb.1_Missense_Mutation_p.T57M|NEXN_uc001dib.4_Missense_Mutation_p.T57M|NEXN_uc001did.1_Missense_Mutation_p.T45M|NEXN_uc001dif.1_Missense_Mutation_p.T13M	NM_144573	NP_653174	Q0ZGT2	NEXN_HUMAN	Homo sapiens nexilin (F actin binding protein) (NEXN), transcript variant 1, mRNA.	121	Glu-rich.				regulation of cell migration|regulation of cytoskeleton organization	Z disc|cytoskeleton	actin filament binding|structural constituent of muscle			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		AGGAAGAGAACGGAGGAGGAA	0.368000												
MUC17	140453	broad.mit.edu	37	7	100676841	100676841	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:100676841C>T	uc003uxp.1	+	2	2197	c.2144C>T	c.(2143-2145)aCc>aTc	p.T715I	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	715	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCTGTTGACACCAGCACACCT	0.498000												
MST1R	4486	broad.mit.edu	37	3	49935976	49935976	+	Missense_Mutation	SNP	T	T	A	rs144558604	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:49935976T>A	uc003cxy.4	-	3	1958	c.1694A>T	c.(1693-1695)gAc>gTc	p.D565V	MST1R_uc011bdc.2_Missense_Mutation_p.D565V|MST1R_uc011bdd.2_Missense_Mutation_p.D565V|MST1R_uc011bde.1_Missense_Mutation_p.D565V|MST1R_uc011bdf.1_Missense_Mutation_p.D459V	NM_002447	NP_002438	Q04912	RON_HUMAN	Homo sapiens macrophage stimulating 1 receptor (c-met-related tyrosine kinase) (MST1R), transcript variant 1, mRNA.	565					cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TGGGCAGTGGTCCTGTTGCCA	0.602000												
RGS10	6001	broad.mit.edu	37	10	121275054	121275054	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:121275054C>T	uc001lee.3	-	2	342	c.342G>A	c.(340-342)ccG>ccA	p.P114P	RGS10_uc001lef.3_Silent_p.P108P|RGS10_uc001leg.3_Silent_p.P122P	NM_002925	NP_002916	O43665	RGS10_HUMAN	Homo sapiens regulator of G-protein signaling 10 (RGS10), transcript variant 2, mRNA.	114	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			breast(2)|large_intestine(1)|lung(3)	6		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00105)|GBM - Glioblastoma multiforme(135;0.195)		TCAGAGGGTGCGGTTCTTCCA	0.512000												
PRNP	5621	broad.mit.edu	37	20	4680430	4680430	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:4680430G>A	uc021wae.1	+	0	564	c.564G>A	c.(562-564)acG>acA	p.T188T	PRNP_uc002wkt.1_Silent_p.T158T|PRNP_uc002wku.3_Silent_p.T188T|PRNP_uc002wkv.3_Silent_p.T188T|PRNP_uc002wkw.3_Silent_p.T188T|PRNP_uc002wkx.3_Silent_p.T188T|PRNP_uc002wky.3_Silent_p.T188T|PRNP_uc010gbe.1_Silent_p.T188T	NM_183079	NP_898902	P04156	PRIO_HUMAN	Homo sapiens prion protein (PRNP), transcript variant 2, mRNA.	188	Interaction with GRB2, ERI3 and SYN1 (By similarity).		T -> K (in early-onset dementia; dementia associated to prion diseases).|T -> R.		axon guidance|cell cycle arrest|cellular copper ion homeostasis|metabolic process|negative regulation of T cell receptor signaling pathway|negative regulation of activated T cell proliferation|negative regulation of calcineurin-NFAT signaling pathway|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-2 production|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|protein homooligomerization|response to oxidative stress	Golgi apparatus|anchored to membrane|endoplasmic reticulum|extrinsic to membrane|membrane raft|nucleus|plasma membrane	copper ion binding|identical protein binding|microtubule binding			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14					Tetracycline(DB00759)	AGCAGCACACGGTCACCACAA	0.517000												
REEP5	7905	broad.mit.edu	37	5	112257795	112257795	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:112257795G>A	uc003kqe.1	-	0	237	c.93C>T	c.(91-93)ggC>ggT	p.G31G	REEP5_uc011cvw.1_5'Flank|REEP5_uc011cvx.1_Non-coding_Transcript|REEP5_uc011cvy.1_Silent_p.G31G|REEP5_uc011cvz.1_Non-coding_Transcript	NM_005669	NP_005660	Q00765	REEP5_HUMAN	Homo sapiens receptor accessory protein 5 (REEP5), mRNA.	31						integral to membrane	protein binding			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		Epithelial(69;1.3e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.26e-08)|all cancers(49;3.56e-07)|Colorectal(14;0.00778)|COAD - Colon adenocarcinoma(37;0.013)		TCCTGTTCACGCCGGTTTTGG	0.662000												
FNIP2	57600	broad.mit.edu	37	4	159789546	159789546	+	Silent	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:159789546A>G	uc003iqe.4	+	12	1941	c.1758A>G	c.(1756-1758)acA>acG	p.T586T		NM_020840	NP_065891	Q9P278	FNIP2_HUMAN	Homo sapiens folliculin interacting protein 2 (FNIP2), mRNA.	586	Interaction with PRKAA1.				DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		TACCACCAACAGCAGCAGAGA	0.542000												
TRPC3	7222	broad.mit.edu	37	4	122846219	122846219	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:122846219G>A	uc003ieg.2	-	2	1204	c.1130C>T	c.(1129-1131)gCt>gTt	p.A377V	TRPC3_uc010inr.2_Missense_Mutation_p.A304V|TRPC3_uc003ief.2_Missense_Mutation_p.A304V|TRPC3_uc011cgl.1_Missense_Mutation_p.A41V	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 3 (TRPC3), transcript variant 1, mRNA.	292					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						ACTTAATGAAGCTTTGTGCCT	0.443000												
CASC3	22794	broad.mit.edu	37	17	38319959	38319959	+	Silent	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:38319959C>A	uc010cwt.1	+	6	1306	c.1011C>A	c.(1009-1011)ggC>ggA	p.G337G	CASC3_uc010cws.1_Silent_p.G337G|CASC3_uc002hue.3_Silent_p.G337G	NM_007359	NP_031385	O15234	CASC3_HUMAN	Homo sapiens cancer susceptibility candidate 3 (CASC3), mRNA.	337					RNA splicing|mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	RNA binding|identical protein binding|ubiquitin protein ligase binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						AGCATGGTGGCCGGTCTGGTG	0.562000												
KIF1A	547	broad.mit.edu	37	2	241683367	241683367	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:241683367G>A	uc010fzk.3	-	32	3823	c.3576C>T	c.(3574-3576)gaC>gaT	p.D1192D	KIF1A_uc002vzy.3_Silent_p.D1091D|KIF1A_uc002vzz.2_Silent_p.D1192D	NM_001244008	NP_001230937	Q12756	KIF1A_HUMAN	Homo sapiens kinesin family member 1A (KIF1A), transcript variant 1, mRNA.	1091					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		ACCTGAGCACGTCCTTGCAGA	0.587000												
DAAM2	23500	broad.mit.edu	37	6	39847178	39847178	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:39847178C>T	uc003oow.3	+	13	1909	c.1770C>T	c.(1768-1770)gaC>gaT	p.D590D	DAAM2_uc010jxc.3_Silent_p.D590D|DAAM2_uc003oox.3_Silent_p.D590D	NM_001201427	NP_001188356	Q86T65	DAAM2_HUMAN	Homo sapiens dishevelled associated activator of morphogenesis 2 (DAAM2), transcript variant 1, mRNA.	590	FH1.|Pro-rich.				actin cytoskeleton organization		Rho GTPase binding|actin binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					CCAGCAGTGACGTCCCACTCA	0.652000												
SLC9A3	6550	broad.mit.edu	37	5	492080	492080	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:492080C>T	uc003jbe.2	-	1	430	c.318G>A	c.(316-318)gcG>gcA	p.A106A	SLC9A3_uc011clx.1_Silent_p.A106A	NM_004174	NP_004165	P48764	SL9A3_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 3 (SLC9A3), mRNA.	106						cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GTGTGAAGGACGCGATGTGGT	0.652000												
ADRBK1	156	broad.mit.edu	37	11	67047125	67047125	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:67047125T>C	uc009yrn.1	+	4	661	c.395T>C	c.(394-396)gTc>gCc	p.V132A		NM_001619	NP_001610	P25098	ARBK1_HUMAN	Homo sapiens adrenergic, beta, receptor kinase 1 (ADRBK1), mRNA.	132	N-terminal.|RGS.				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	ATP binding|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|alpha-2A adrenergic receptor binding|beta-adrenergic 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)	ACTGAGCATGTCCAAGGCCAC	0.612000												
MPPED2	744	broad.mit.edu	37	11	30601840	30601840	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:30601840C>T	uc001msr.3	-	0	202	c.81G>A	c.(79-81)acG>acA	p.T27T	MPPED2_uc001msq.3_Silent_p.T27T|MPPED2_uc009yji.3_5'UTR	NM_001584	NP_001575	Q15777	MPPD2_HUMAN	Homo sapiens metallophosphoesterase domain containing 2 (MPPED2), transcript variant 1, mRNA.	27					nervous system development		hydrolase activity|metal ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						TGTTGTAGTGCGTGAATGCCT	0.428000												
KCNQ4	9132	broad.mit.edu	37	1	41300742	41300742	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:41300742C>T	uc001cgh.2	+	11	1799	c.1717C>T	c.(1717-1719)Ctg>Ttg	p.L573L	KCNQ4_uc001cgi.2_Silent_p.L519L	NM_004700	NP_004691	P56696	KCNQ4_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 4 (KCNQ4), transcript variant 1, mRNA.	573	A-domain (Tetramerization).				sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			CCTGGACATGCTGGGCCGGAT	0.602000												
ZAN	7455	broad.mit.edu	37	7	100389759	100389759	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:100389759G>A	uc003uwj.3	+	41	7863	c.7698G>A	c.(7696-7698)gaG>gaA	p.E2566E	ZAN_uc003uwk.3_Silent_p.E2566E|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kke.2_Missense_Mutation_p.S560N	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	2567					binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TGGCCCCAGAGCCCTTCCAAG	0.667000												
CACNA1E	777	broad.mit.edu	37	1	181732597	181732597	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:181732597G>A	uc009wxt.3	+	33	4940	c.4745G>A	c.(4744-4746)cGc>cAc	p.R1582H	CACNA1E_uc001gow.3_Missense_Mutation_p.R1582H|CACNA1E_uc009wxs.3_Missense_Mutation_p.R1563H|CACNA1E_uc001gox.1_Missense_Mutation_p.R808H	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1582					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CGAGCTGCCCGCCTCATAAAG	0.473000												
NUP205	23165	broad.mit.edu	37	7	135303205	135303205	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:135303205C>T	uc003vsw.3	+	27	3848	c.3817C>T	c.(3817-3819)Ctg>Ttg	p.L1273L		NM_015135	NP_055950	Q92621	NU205_HUMAN	Homo sapiens nucleoporin 205kDa (NUP205), mRNA.	1273					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						AAATAAATTGCTGCAGTGTCT	0.428000												
BRCA2	675	broad.mit.edu	37	13	32906931	32906931	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:32906931T>G	uc001uub.1	+	9	1543	c.1316T>G	c.(1315-1317)tTt>tGt	p.F439C	BRCA2_uc001uua.1_Missense_Mutation_p.F316C	NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	439					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AAGAAAGATTTTCTTACTTCA	0.358000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)		
GPHN	10243	broad.mit.edu	37	14	67389441	67389441	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:67389441C>T	uc001xiy.3	+	6	1636	c.515C>T	c.(514-516)gCc>gTc	p.A172V	GPHN_uc001xiw.3_Missense_Mutation_p.A154V|GPHN_uc001xix.3_Missense_Mutation_p.A172V|GPHN_uc010tss.2_Missense_Mutation_p.A185V|GPHN_uc010tst.2_Missense_Mutation_p.A141V|GPHN_uc010tsu.2_Missense_Mutation_p.A62V	NM_001024218	NP_001019389	Q9NQX3	GEPH_HUMAN	Homo sapiens gephyrin (GPHN), transcript variant 2, mRNA.	172	Interaction with GABARAP (By similarity).				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		TTACGTGATGCCATTGTAAAA	0.433000			T	MLL	AL							
STIM2	57620	broad.mit.edu	37	4	27019446	27019446	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:27019446G>A	uc003gsg.4	+	10	2131	c.1603G>A	c.(1603-1605)Gcc>Acc	p.A535T	STIM2_uc003gsh.4_Missense_Mutation_p.A543T|STIM2_uc010iex.3_Missense_Mutation_p.A535T|STIM2_uc010iey.3_Missense_Mutation_p.A246T	NM_020860	NP_065911	Q9P246	STIM2_HUMAN	Homo sapiens stromal interaction molecule 2 (STIM2), transcript variant 2, mRNA.	535	His/Pro-rich.				activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				TGCTCCACACGCCCCCCACCC	0.622000												
NIT2	56954	broad.mit.edu	37	3	100058029	100058029	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:100058029G>A	uc003dtv.3	+	1	180	c.106G>A	c.(106-108)Gcc>Acc	p.A36T	NIT2_uc011bha.1_Missense_Mutation_p.A36T	NM_020202	NP_064587	Q9NQR4	NIT2_HUMAN	Homo sapiens nitrilase family, member 2 (NIT2), mRNA.	36	CN hydrolase.				nitrogen compound metabolic process		omega-amidase activity			breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						AACGCAAGGAGCCAAAATAGT	0.507000												
SLC19A3	80704	broad.mit.edu	37	2	228564079	228564079	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:228564079C>T	uc002vpi.3	-	2	441	c.352G>A	c.(352-354)Gcc>Acc	p.A118T	SLC19A3_uc002vpj.3_Non-coding_Transcript|SLC19A3_uc010zlv.1_Missense_Mutation_p.A114T	NM_025243	NP_079519	Q9BZV2	S19A3_HUMAN	Homo sapiens solute carrier family 19, member 3 (SLC19A3), mRNA.	118					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity	p.T117T(1)		breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	ACCTCGGCGGCGGTGACCATC	0.562000												
SMAP2	64744	broad.mit.edu	37	1	40887722	40887722	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:40887722C>T	uc001cfj.3	+	9	1654	c.1239C>T	c.(1237-1239)ggC>ggT	p.G413G	SMAP2_uc001cfk.3_Silent_p.G383G|SMAP2_uc021oma.1_Silent_p.G408G|SMAP2_uc010oji.2_Silent_p.G333G|SMAP2_uc010ojj.2_Silent_p.G229G	NM_022733	NP_001185909	Q8WU79	SMAP2_HUMAN	Homo sapiens small ArfGAP2 (SMAP2), transcript variant 1, mRNA.	413	Interaction with PICALM (By similarity).				regulation of ARF GTPase activity	cytoplasm|nucleus	ARF GTPase activator activity|zinc ion binding			central_nervous_system(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)			CAATGAGTGGCGGAAATGGAC	0.493000												
ATP9B	374868	broad.mit.edu	37	18	77090061	77090061	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:77090061C>T	uc002lmx.3	+	16	1999	c.1985C>T	c.(1984-1986)gCc>gTc	p.A662V	ATP9B_uc002lmw.1_Missense_Mutation_p.A662V|ATP9B_uc002lmz.1_Missense_Mutation_p.A356V	NM_198531	NP_940933	O43861	ATP9B_HUMAN	Homo sapiens ATPase, class II, type 9B (ATP9B), mRNA.	662					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		GCTGACGTGGCCATGTCTCCT	0.468000												
GPATCH8	23131	broad.mit.edu	37	17	42580708	42580708	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:42580708C>T	uc002igw.2	-	0	250	c.31G>A	c.(31-33)Gac>Aac	p.D11N	GPATCH8_uc010wiz.2_5'UTR	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	Homo sapiens G patch domain containing 8 (GPATCH8), transcript variant 1, mRNA.	11						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		AAGTCTCGGTCTTCGTTGAAG	0.627000												
JPH2	57158	broad.mit.edu	37	20	42815111	42815111	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:42815111G>A	uc002xli.1	-	0	1108	c.235C>T	c.(235-237)Cgc>Tgc	p.R79C	JPH2_uc002xlj.3_Missense_Mutation_p.R79C	NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	Homo sapiens junctophilin 2 (JPH2), transcript variant 1, mRNA.	79	Gly-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TAGAGCCAGCGCCCCTTGGTC	0.597000												
SAMD3	154075	broad.mit.edu	37	6	130465849	130465849	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:130465849T>C	uc003qbw.3	-	11	1707	c.1379A>G	c.(1378-1380)gAc>gGc	p.D460G	SAMD3_uc003qbx.3_Missense_Mutation_p.D460G	NM_001017373	NP_001017373	Q8N6K7	SAMD3_HUMAN	Homo sapiens sterile alpha motif domain containing 3 (SAMD3), transcript variant 1, mRNA.	460										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)		AACACAGTCGTCCACCTTTGT	0.443000												
EHMT1	79813	broad.mit.edu	37	9	140672491	140672491	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:140672491G>A	uc011mfc.2	+	12	2213	c.2176G>A	c.(2176-2178)Gcc>Acc	p.A726T	EHMT1_uc004coa.3_Missense_Mutation_p.A726T|EHMT1_uc004cob.1_Missense_Mutation_p.A695T	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN	Homo sapiens euchromatic histone-lysine N-methyltransferase 1 (EHMT1), transcript variant 1, mRNA.	726					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CGCTCTCATCGCCCTCGACTC	0.562000												
ZNF331	55422	broad.mit.edu	37	19	54080668	54080668	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:54080668G>A	uc002qbx.1	+	6	2288	c.854G>A	c.(853-855)aGc>aAc	p.S285N	ZNF331_uc002qby.1_Missense_Mutation_p.S285N|ZNF331_uc002qbz.1_Missense_Mutation_p.S285N|ZNF331_uc010eqr.1_Missense_Mutation_p.S285N|ZNF331_uc002qca.1_Missense_Mutation_p.S285N|ZNF331_uc021uzg.1_Missense_Mutation_p.S285N|ZNF331_uc021uzh.1_Missense_Mutation_p.S285N|ZNF331_uc002qcb.1_Missense_Mutation_p.S285N|ZNF331_uc002qcc.1_Missense_Mutation_p.S285N|ZNF331_uc002qcd.1_Missense_Mutation_p.S285N	NM_018555	NP_061025	Q9NQX6	ZN331_HUMAN	Homo sapiens zinc finger protein 331 (ZNF331), transcript variant 1, mRNA.	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		TGTGGTTCAAGCCTCATTCAG	0.413000			T	?	follicular thyroid adenoma							
SCD5	79966	broad.mit.edu	37	4	83719512	83719512	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:83719512G>A	uc003hna.2	-	0	499	c.179C>T	c.(178-180)gCc>gTc	p.A60V	SCD5_uc003hnb.4_Missense_Mutation_p.A60V|SCD5_uc003hnc.3_Missense_Mutation_p.A60V	NM_001037582	NP_001032671	Q86SK9	SCD5_HUMAN	Homo sapiens stearoyl-CoA desaturase 5 (SCD5), transcript variant 1, mRNA.	60					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				GGAGTACACGGCCCCCAAGTG	0.706000												
TNFSF18	8995	broad.mit.edu	37	1	173019955	173019955	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:173019955G>A	uc001giu.2	-	0	149	c.148C>T	c.(148-150)Ctc>Ttc	p.L50F		NM_005092	NP_005083	Q9UNG2	TNF18_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 18 (TNFSF18), mRNA.	50					anti-apoptosis|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	9						GAGCAAAAGAGCCACAGCTTC	0.393000												
KIAA1217	56243	broad.mit.edu	37	10	24727368	24727368	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:24727368C>T	uc001iru.4	+	4	1209	c.806C>T	c.(805-807)gCg>gTg	p.A269V	KIAA1217_uc001irs.3_Missense_Mutation_p.A189V|KIAA1217_uc001irt.4_Missense_Mutation_p.A269V|KIAA1217_uc010qcy.2_Missense_Mutation_p.A269V|KIAA1217_uc010qcz.2_Missense_Mutation_p.A269V|KIAA1217_uc001irv.1_Missense_Mutation_p.A119V|KIAA1217_uc010qda.1_Non-coding_Transcript	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	269					embryonic skeletal system development	cytoplasm		p.A269V(2)		breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CCTGCACATGCGTTTAATCAC	0.413000												
DNAJA4	55466	broad.mit.edu	37	15	78566648	78566648	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:78566648C>T	uc002bdi.3	+	4	784	c.615C>T	c.(613-615)acC>acT	p.T205T	DNAJA4_uc002bdj.2_Silent_p.T176T|DNAJA4_uc002bdk.3_Silent_p.T149T|DNAJA4_uc002bdl.3_Silent_p.T91T|DNAJA4_uc002bdm.2_5'Flank	NM_018602	NP_001123654	Q8WW22	DNJA4_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily A, member 4 (DNAJA4), transcript variant 1, mRNA.	176					protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding	p.R204C(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	8						AGATCCAGACCGTGTGCATCG	0.622000												
ZNF791	163049	broad.mit.edu	37	19	12739704	12739704	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:12739704C>T	uc002mua.2	+	3	1523	c.1361C>T	c.(1360-1362)gCg>gTg	p.A454V	ZNF791_uc010xml.1_Missense_Mutation_p.A422V|ZNF791_uc010dyu.1_Missense_Mutation_p.A345V|ZNF791_uc010xmm.1_Missense_Mutation_p.A345V	NM_153358	NP_699189	Q3KP31	ZN791_HUMAN	Homo sapiens zinc finger protein 791 (ZNF791), mRNA.	454					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						TTTCCTAGTGCGTTACGAACA	0.398000												
GNAT3	346562	broad.mit.edu	37	7	80088124	80088124	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:80088124G>C	uc011kgu.2	-	7	928	c.928C>G	c.(928-930)Ctg>Gtg	p.L310V	CD36_uc003uhc.3_Intron	NM_001102386	NP_001095856	A8MTJ3	GNAT3_HUMAN	Homo sapiens guanine nucleotide binding protein, alpha transducing 3 (GNAT3), mRNA.	310					G-protein signaling, coupled to cAMP nucleotide second messenger|detection of chemical stimulus involved in sensory perception of bitter taste|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						TTTAAATTCAGGTCTAGAAAC	0.323000												
RBM47	54502	broad.mit.edu	37	4	40440533	40440533	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:40440533G>A	uc003gvc.2	-	3	1088	c.378C>T	c.(376-378)cgC>cgT	p.R126R	RBM47_uc003gvd.2_Silent_p.R126R|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Silent_p.R88R|RBM47_uc003gvg.1_Silent_p.R126R	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.	126	RRM 1.					nucleus	RNA binding|nucleotide binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CACGCACTGCGCGCTTGGCCT	0.647000												
QRFPR	84109	broad.mit.edu	37	4	122301573	122301573	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:122301573C>T	uc010inj.1	-	0	609	c.230G>A	c.(229-231)cGc>cAc	p.R77H	QRFPR_uc010ink.1_Non-coding_Transcript|QRFPR_uc003ids.2_Missense_Mutation_p.R77H|QRFPR_uc010inl.1_Missense_Mutation_p.R77H	NM_198179	NP_937822	Q96P65	QRFPR_HUMAN	Homo sapiens pyroglutamylated RFamide peptide receptor (QRFPR), mRNA.	77						plasma membrane	neuropeptide Y receptor activity			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						GGTGACGGTGCGCATGGCCTT	0.582000												
CHST9	83539	broad.mit.edu	37	18	24497286	24497286	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:24497286A>G	uc002kwd.3	-	4	498	c.269T>C	c.(268-270)gTa>gCa	p.V90A	CHST9-AS1_uc002kwb.2_Intron|CHST9-AS1_uc010xbm.2_Intron|CHST9_uc002kwe.3_Missense_Mutation_p.V90A|CHST9_uc021uij.1_Missense_Mutation_p.V5A	NM_001243848	NP_001230777	Q7L1S5	CHST9_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9 (CHST9), transcript variant 2, mRNA.	90					carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|extracellular region|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					TTTTTCTCGTACATCCTCAGG	0.398000												
QRICH2	84074	broad.mit.edu	37	17	74289360	74289360	+	Missense_Mutation	SNP	C	C	T	rs144671527	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:74289360C>T	uc002jrd.1	-	3	1130	c.950G>A	c.(949-951)cGc>cAc	p.R317H	QRICH2_uc010dgw.1_Intron	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	Homo sapiens glutamine rich 2 (QRICH2), mRNA.	317							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						TTCCATACTGCGTTGGTCTGT	0.493000												
VPS35	55737	broad.mit.edu	37	16	46712899	46712899	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:46712899G>A	uc002eef.4	-	5	775	c.676C>T	c.(676-678)Cgc>Tgc	p.R226C	VPS35_uc002eed.3_Missense_Mutation_p.R47C|VPS35_uc002eee.3_Missense_Mutation_p.R187C	NM_018206	NP_060676	Q96QK1	VPS35_HUMAN	Homo sapiens vacuolar protein sorting 35 homolog (S. cerevisiae) (VPS35), mRNA.	226					protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TGACTGAGGCGCACCAAATTT	0.393000												
AGTR2	186	broad.mit.edu	37	X	115303556	115303556	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:115303556C>T	uc022cdd.1	+	0	23	c.23C>T	c.(22-24)gCc>gTc	p.A8V	AGTR2_uc004eqh.4_Missense_Mutation_p.A8V	NM_000686	NP_000677	P50052	AGTR2_HUMAN	Homo sapiens angiotensin II receptor, type 2 (AGTR2), mRNA.	8					G-protein signaling, coupled to cGMP nucleotide second messenger|behavior|blood vessel remodeling|brain development|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	p.L7I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						TCCACCCTTGCCACTACTAGC	0.433000												
PQLC1	80148	broad.mit.edu	37	18	77703340	77703340	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:77703340C>T	uc002lnl.2	-	2	498	c.326G>A	c.(325-327)cGc>cAc	p.R109H	PQLC1_uc010dre.2_Missense_Mutation_p.R26H|PQLC1_uc002lnk.2_Missense_Mutation_p.R109H|PQLC1_uc010xfm.1_Missense_Mutation_p.R109H	NM_025078	NP_079354	Q8N2U9	PQLC1_HUMAN	Homo sapiens PQ loop repeat containing 1 (PQLC1), transcript variant 1, mRNA.	109						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	9		Esophageal squamous(42;0.0212)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258)		TGTAAAGGAGCGGCGCCTGGC	0.582000												
EPHA4	2043	broad.mit.edu	37	2	222301233	222301233	+	Silent	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:222301233A>G	uc002vmq.3	-	12	2274	c.2232T>C	c.(2230-2232)caT>caC	p.H744H	EPHA4_uc002vmr.2_Silent_p.H744H|EPHA4_uc010zlm.1_Silent_p.H685H	NM_004438	NP_004429	P54764	EPHA4_HUMAN	Homo sapiens EPH receptor A4 (EPHA4), mRNA.	744	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		CCAGATCACGATGCACATAGC	0.488000												
CLCN7	1186	broad.mit.edu	37	16	1510842	1510842	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:1510842G>A	uc002clv.2	-	4	569	c.459C>T	c.(457-459)ggC>ggT	p.G153G	CLCN7_uc002clw.2_Silent_p.G129G	NM_001287	NP_001278	P51798	CLCN7_HUMAN	Homo sapiens chloride channel 7 (CLCN7), transcript variant 1, mRNA.	153						integral to membrane|lysosomal membrane	ATP binding|antiporter activity|voltage-gated chloride channel activity	p.G153V(1)		breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				TGTACTTGAGGCCAGCCAGGT	0.637000												
HAPLN4	404037	broad.mit.edu	37	19	19369400	19369400	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:19369400C>T	uc002nmb.3	-	3	859	c.749G>A	c.(748-750)cGc>cAc	p.R250H	HAPLN4_uc002nmc.3_Missense_Mutation_p.R250H	NM_023002	NP_075378	Q86UW8	HPLN4_HUMAN	Homo sapiens hyaluronan and proteoglycan link protein 4 (HAPLN4), mRNA.	250	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)			CCCGTAGTTGCGCAGGCCCCC	0.697000												
MAPKBP1	23005	broad.mit.edu	37	15	42105237	42105237	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:42105237T>A	uc001zok.4	+	7	1043	c.757T>A	c.(757-759)Tcc>Acc	p.S253T	MAPKBP1_uc010bci.3_Missense_Mutation_p.S253T|MAPKBP1_uc010udb.2_Missense_Mutation_p.S141T|MAPKBP1_uc001zoj.4_Missense_Mutation_p.S253T|MAPKBP1_uc010bcj.3_5'UTR|MAPKBP1_uc010bck.3_5'UTR|MAPKBP1_uc010bcl.3_5'UTR	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	Homo sapiens mitogen-activated protein kinase binding protein 1 (MAPKBP1), transcript variant 2, mRNA.	253										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CTGCATCACGTCCTCAGGGCT	0.582000												
NAV3	89795	broad.mit.edu	37	12	78444840	78444840	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:78444840A>G	uc001syp.3	+	10	2602	c.2429A>G	c.(2428-2430)gAc>gGc	p.D810G	NAV3_uc001syo.3_Missense_Mutation_p.D810G|NAV3_uc010sub.2_Missense_Mutation_p.D310G	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	810						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AGTGACCTGGACATGTCTTCT	0.488000										HNSCC(70;0.22)		
SNAI3	333929	broad.mit.edu	37	16	88744868	88744868	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:88744868G>A	uc002flj.3	-	2	935	c.867C>T	c.(865-867)tgC>tgT	p.C289C	MGC23284_uc002fli.4_Intron	NM_178310	NP_840101	Q3KNW1	SNAI3_HUMAN	Homo sapiens snail homolog 3 (Drosophila) (SNAI3), mRNA.	289					oxidation-reduction process		DNA binding|copper ion binding|zinc ion binding			NS(1)|central_nervous_system(1)|kidney(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(80;0.048)		AGGGGCCCGGGCAGCAGCCAG	0.682000												
KIAA1524	57650	broad.mit.edu	37	3	108276166	108276166	+	Silent	SNP	C	C	T	rs148609942		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:108276166C>T	uc003dxb.4	-	16	2378	c.2109G>A	c.(2107-2109)gcG>gcA	p.A703A		NM_020890	NP_065941	Q8TCG1	CIP2A_HUMAN	Homo sapiens KIAA1524 (KIAA1524), mRNA.	703						cytoplasm|integral to membrane	protein binding	p.A703V(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TATCACTCTGCGCTCTTTCTG	0.408000												
UHRF2	115426	broad.mit.edu	37	9	6504628	6504628	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:6504628C>T	uc003zjy.3	+	14	2539	c.2199C>T	c.(2197-2199)tgC>tgT	p.C733C	UHRF2_uc003zjz.3_Non-coding_Transcript|UHRF2_uc003zkb.3_Non-coding_Transcript	NM_152896	NP_690856	Q96PU4	UHRF2_HUMAN	Homo sapiens ubiquitin-like with PHD and ring finger domains 2 (UHRF2), mRNA.	733					cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process	nucleus	DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding	p.M732I(1)		cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		CTTTTATGTGCGTTTGCTGTC	0.358000												
TTC5	91875	broad.mit.edu	37	14	20763639	20763639	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:20763639C>T	uc001vwt.3	-	7	947	c.890G>A	c.(889-891)cGc>cAc	p.R297H	TTC5_uc001vwu.3_Missense_Mutation_p.R154H	NM_138376	NP_612385	Q8N0Z6	TTC5_HUMAN	Homo sapiens tetratricopeptide repeat domain 5 (TTC5), mRNA.	297					DNA repair	cytoplasm|nucleus	binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		ATGGGCTGGGCGCAAGCTTCC	0.547000												
ITGAE	3682	broad.mit.edu	37	17	3665218	3665218	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:3665218G>A	uc002fwo.4	-	3	405	c.306C>T	c.(304-306)caC>caT	p.H102H		NM_002208	NP_002199	P38570	ITAE_HUMAN	Homo sapiens integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) (ITGAE), mRNA.	102					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	p.H101Q(1)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		CCAAAACACCGTGGTGGCTCC	0.617000												
MEX3C	51320	broad.mit.edu	37	18	48702779	48702779	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:48702779G>A	uc002lfc.4	-	1	2283	c.1922C>T	c.(1921-1923)aCg>aTg	p.T641M		NM_016626	NP_057710	Q5U5Q3	MEX3C_HUMAN	Homo sapiens mex-3 homolog C (C. elegans) (MEX3C), mRNA.	641						cytoplasm|nucleus	RNA binding|zinc ion binding			endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|skin(1)	17		Colorectal(6;0.003)|all_epithelial(6;0.0473)		Colorectal(16;0.0175)|READ - Rectum adenocarcinoma(32;0.15)		ACATGATGGCGTTCTCTTTTC	0.403000												
ADAMTS9	56999	broad.mit.edu	37	3	64641547	64641547	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:64641547G>A	uc003dmg.3	-	4	1006	c.974C>T	c.(973-975)gCc>gTc	p.A325V	ADAMTS9_uc011bfo.2_Intron|ADAMTS9_uc003dmh.1_Missense_Mutation_p.A154V|ADAMTS9_uc003dmk.1_Missense_Mutation_p.A325V	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.	325	Peptidase M12B.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		ATAGATAGAGGCTACCTGCAA	0.318000												
STEAP3	55240	broad.mit.edu	37	2	120005382	120005382	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:120005382G>A	uc002tlp.3	+	3	777	c.620G>A	c.(619-621)cGc>cAc	p.R207H	STEAP3_uc002tlq.3_Missense_Mutation_p.R217H|STEAP3_uc002tlr.3_Missense_Mutation_p.R207H|STEAP3_uc010fle.3_Missense_Mutation_p.R207H	NM_018234	NP_060704	Q658P3	STEA3_HUMAN	Homo sapiens STEAP family member 3, metalloreductase (STEAP3), transcript variant 2, mRNA.	207					apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	p.R207C(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						ATGCCCCTGCGCCTCCTCCCG	0.662000												
TRERF1	55809	broad.mit.edu	37	6	42227309	42227309	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:42227309G>A	uc003ose.2	-	8	2660	c.2097C>T	c.(2095-2097)ggC>ggT	p.G699G	TRERF1_uc011duq.1_Silent_p.G596G|TRERF1_uc003osb.2_Silent_p.G435G|TRERF1_uc003osc.2_Silent_p.G435G|TRERF1_uc003osd.2_Silent_p.G679G	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA.	679	Interacts with CREBBP.|Pro-rich.				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|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator 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)			ACAGGGTGGCGCCCGAGTAGG	0.692000												
SRGAP1	57522	broad.mit.edu	37	12	64377886	64377886	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:64377886C>T	uc010ssp.1	+	1	283	c.227C>T	c.(226-228)gCa>gTa	p.A76V	SRGAP1_uc001srt.3_Missense_Mutation_p.A76V|SRGAP1_uc001srv.2_Missense_Mutation_p.A36V	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 1 (SRGAP1), mRNA.	76	FCH.				axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		AGGTTCATGGCAAAAACAAGA	0.398000												
INVS	27130	broad.mit.edu	37	9	103054969	103054969	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:103054969C>T	uc004bap.1	+	13	2642	c.2430C>T	c.(2428-2430)cgC>cgT	p.R810R	INVS_uc011lve.1_Silent_p.R714R|INVS_uc004bao.1_Intron|INVS_uc004baq.1_Intron|INVS_uc004bar.1_Silent_p.R714R|INVS_uc010mtb.1_Silent_p.R484R	NM_014425	NP_055240	Q9Y283	INVS_HUMAN	Homo sapiens inversin (INVS), transcript variant 1, mRNA.	810					Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				GTTCTAGCCGCCCTGGCAGTG	0.617000												
C11orf41	25758	broad.mit.edu	37	11	33565790	33565790	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:33565790A>G	uc021qfs.1	+	0	1914	c.1790A>G	c.(1789-1791)cAc>cGc	p.H597R	C11orf41_uc001mun.1_Missense_Mutation_p.H597R	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	Homo sapiens chromosome 11 open reading frame 41 (C11orf41), mRNA.	597						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	52						TTGGGATATCACTCTGCTGCT	0.483000												
PFKL	5211	broad.mit.edu	37	21	45743770	45743770	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr21:45743770G>A	uc002zek.3	+	18	2161	c.1760G>A	c.(1759-1761)gGc>gAc	p.G587D	PFKL_uc002zel.3_Missense_Mutation_p.G540D|PFKL_uc002zem.3_Missense_Mutation_p.G127D|PFKL_uc002zen.3_Missense_Mutation_p.G127D			P17858	K6PL_HUMAN	Homo sapiens phosphofructokinase, liver (PFKL), transcript variant 1, non-coding RNA.	540					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		TTCAGCCTGGGCTCCGACACT	0.657000												
GLT25D1	79709	broad.mit.edu	37	19	17678290	17678290	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:17678290G>A	uc002nhc.1	+	3	577	c.565G>A	c.(565-567)Gcc>Acc	p.A189T	GLT25D1_uc010eax.1_5'Flank	NM_024656	NP_078932	Q8NBJ5	GT251_HUMAN	Homo sapiens glycosyltransferase 25 domain containing 1 (GLT25D1), mRNA.	189					lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity	p.A189T(2)|p.V188V(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	14						GACGGTGGTCGCCCCCATGCT	0.577000												
TXNRD1	7296	broad.mit.edu	37	12	104682747	104682747	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:104682747G>T	uc021rcx.1	+	3	365	c.343G>T	c.(343-345)Gcc>Tcc	p.A115S	TXNRD1_uc021rcy.1_Missense_Mutation_p.A17S|TXNRD1_uc021rcz.1_5'UTR|TXNRD1_uc021rda.1_Intron|TXNRD1_uc021rdb.1_Intron|TXNRD1_uc010swp.2_5'UTR|TXNRD1_uc010swq.2_Missense_Mutation_p.A15S|TXNRD1_uc001tku.3_Non-coding_Transcript|TXNRD1_uc001tkv.2_5'Flank	NM_001093771		Q16881	TRXR1_HUMAN	Homo sapiens thioredoxin reductase 1 (TXNRD1), transcript variant 5, mRNA.	115	Glutaredoxin.				cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	NADP binding|electron carrier activity|flavin adenine dinucleotide binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16						CTCGGAATTGGCCGCGGAAAC	0.547000												
CELSR2	1952	broad.mit.edu	37	1	109811556	109811556	+	Missense_Mutation	SNP	G	G	A	rs141644848		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:109811556G>A	uc001dxa.4	+	18	6618	c.6557G>A	c.(6556-6558)cGc>cAc	p.R2186H		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA.	2186					Wnt receptor signaling pathway|dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent	cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		AAGCTGCCCCGCTACGAGGCC	0.592000												
FAM161B	145483	broad.mit.edu	37	14	74407705	74407705	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:74407705C>T	uc001xpd.2	-	4	1712	c.1324G>A	c.(1324-1326)Ggc>Agc	p.G442S		NM_152445	NP_689658			Homo sapiens family with sequence similarity 161, member B (FAM161B), mRNA.											breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						GAAGCAAGGCCGCTCAGAGAA	0.547000												
MYO15A	51168	broad.mit.edu	37	17	18023355	18023355	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:18023355T>C	uc021trm.1	+	0	1460	c.1241T>C	c.(1240-1242)gTa>gCa	p.V414A	MYO15A_uc021trl.1_Missense_Mutation_p.V414A	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	414	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin 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)					TACCCCTGGGTACCACCGCCC	0.662000												
CDH7	1005	broad.mit.edu	37	18	63477140	63477140	+	Silent	SNP	G	G	A	rs140174290		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:63477140G>A	uc002lkb.3	+	2	837	c.411G>A	c.(409-411)tcG>tcA	p.S137S	CDH7_uc002ljz.3_Silent_p.S137S|CDH7_uc002lka.3_Silent_p.S137S	NM_004361	NP_387450	Q9ULB5	CADH7_HUMAN	Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA.	137	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E136G(1)		NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				AGCCCGAGTCGGAGTTTGTCA	0.522000												
AK3	50808	broad.mit.edu	37	9	4718478	4718478	+	Silent	SNP	C	C	T	rs141049546		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:4718478C>T	uc003ziq.2	-	3	726	c.504G>A	c.(502-504)acG>acA	p.T168T	AK3_uc022bcz.1_Silent_p.T98T|AK3_uc011lma.2_Silent_p.T128T|AK3_uc022bda.1_Silent_p.T98T|AK3_uc003zir.2_Silent_p.T98T	NM_016282	NP_001186785	Q9UIJ7	KAD3_HUMAN	Homo sapiens adenylate kinase 3 (AK3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	168					blood coagulation	mitochondrial matrix	ATP binding|GTP binding|nucleoside triphosphate adenylate kinase activity			large_intestine(2)|lung(1)|ovary(2)	5	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.0302)		TCTTGATAACCGTCTCTGGTT	0.423000												
SLC30A4	7782	broad.mit.edu	37	15	45777398	45777398	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:45777398T>C	uc001zvj.3	-	7	1565	c.1253A>G	c.(1252-1254)gAc>gGc	p.D418G		NM_013309	NP_037441	O14863	ZNT4_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 4 (SLC30A4), mRNA.	418					regulation of sequestering of zinc ion|response to toxin	endosome membrane|integral to membrane|late endosome	zinc ion transmembrane transporter activity			endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1)	15		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)		ACAAGTTCTGTCCACTTCTTG	0.378000												
RNF113B	140432	broad.mit.edu	37	13	98829385	98829385	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:98829385G>A	uc001vnk.3	-	0	137	c.106C>T	c.(106-108)Cgc>Tgc	p.R36C	FARP1_uc001vnh.3_Intron|FARP1_uc001vni.3_Intron|FARP1_uc001vnj.3_Intron	NM_178861	NP_849192	Q8IZP6	R113B_HUMAN	Homo sapiens ring finger protein 113B (RNF113B), mRNA.	36							nucleic acid binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			CAGGCCGGGCGCTTTCTGAGG	0.687000												
XRRA1	143570	broad.mit.edu	37	11	74563096	74563096	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:74563096G>A	uc009yub.3	-	12	1510	c.1178C>T	c.(1177-1179)gCt>gTt	p.A393V	XRRA1_uc001ovm.2_Non-coding_Transcript|XRRA1_uc001ovn.3_Missense_Mutation_p.A16V|XRRA1_uc001ovo.3_Missense_Mutation_p.A16V|XRRA1_uc001ovp.4_Missense_Mutation_p.A118V|XRRA1_uc001ovq.4_Intron|XRRA1_uc001ovr.2_Missense_Mutation_p.A16V|XRRA1_uc001ovs.1_Intron	NM_182969	NP_892014	Q6P2D8	XRRA1_HUMAN	Homo sapiens X-ray radiation resistance associated 1 (XRRA1), mRNA.	393					response to X-ray	cytoplasm|nucleus				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						TGGGAAGAGAGCTACTGGTAG	0.537000												
FANCE	2178	broad.mit.edu	37	6	35423937	35423937	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:35423937G>A	uc003oko.1	+	1	847	c.662G>A	c.(661-663)cGg>cAg	p.R221Q	FANCE_uc010jvw.1_Missense_Mutation_p.R221Q	NM_021922	NP_068741	Q9HB96	FANCE_HUMAN	Homo sapiens Fanconi anemia, complementation group E (FANCE), mRNA.	221	Interaction with FANCC.				DNA repair	nucleoplasm	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						AAAAGATTACGGTGTTGGGAA	0.532000			"""N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia			
SLC44A4	80736	broad.mit.edu	37	6	31833122	31833122	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:31833122G>A	uc010jti.3	-	16	1796	c.1730C>T	c.(1729-1731)gCg>gTg	p.A577V	NEU1_uc003nxq.4_5'Flank|SLC44A4_uc011dol.2_Missense_Mutation_p.A501V|SLC44A4_uc011dom.2_Missense_Mutation_p.A535V	NM_025257	NP_079533	Q53GD3	CTL4_HUMAN	Homo sapiens solute carrier family 44, member 4 (SLC44A4), transcript variant 1, mRNA.	577						integral to membrane|plasma membrane	choline transmembrane transporter activity	p.A577A(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	TAGCATGAACGCATTTTTGGC	0.567000												
TSPAN8	7103	broad.mit.edu	37	12	71531970	71531970	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:71531970G>A	uc009zrt.1	-	3	464	c.302C>T	c.(301-303)gCg>gTg	p.A101V	TSPAN8_uc001swk.1_Missense_Mutation_p.A101V|TSPAN8_uc001swj.1_Missense_Mutation_p.A101V	NM_004616	NP_004607	P19075	TSN8_HUMAN	Homo sapiens tetraspanin 8 (TSPAN8), mRNA.	101					protein glycosylation	integral to membrane|lysosome	signal transducer activity			breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			GATACCTGTCGCCACCTGCAG	0.398000												
ARHGEF12	23365	broad.mit.edu	37	11	120317151	120317151	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:120317151G>A	uc001pxl.2	+	16	1720	c.1385G>A	c.(1384-1386)cGc>cAc	p.R462H	ARHGEF12_uc009zat.3_Missense_Mutation_p.R443H|ARHGEF12_uc010rzn.1_Missense_Mutation_p.R359H|ARHGEF12_uc009zau.1_Missense_Mutation_p.R359H|ARHGEF12_uc021qrm.1_Missense_Mutation_p.R443H	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 12 (ARHGEF12), transcript variant 1, mRNA.	462	RGSL.				G-protein coupled receptor protein signaling pathway|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		GATCTGCATCGCCACTATATC	0.373000			T	MLL	AML							
REPS1	85021	broad.mit.edu	37	6	139234053	139234053	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:139234053G>A	uc003qii.3	-	15	2399	c.1820C>T	c.(1819-1821)gCc>gTc	p.A607V	REPS1_uc003qig.4_Missense_Mutation_p.A580V|REPS1_uc011edr.2_Missense_Mutation_p.A606V|REPS1_uc003qij.3_Missense_Mutation_p.A516V|REPS1_uc003qik.3_Missense_Mutation_p.A213V	NM_031922	NP_114128	Q96D71	REPS1_HUMAN	Homo sapiens RALBP1 associated Eps domain containing 1 (REPS1), transcript variant 1, mRNA.	607						coated pit|plasma membrane	SH3 domain binding|calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		GAGGCCATCGGCATCCACTGG	0.468000												
LRPPRC	10128	broad.mit.edu	37	2	44200831	44200831	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:44200831C>T	uc002rtr.2	-	10	1342	c.1284G>A	c.(1282-1284)aaG>aaA	p.K428K	LRPPRC_uc010yob.1_Silent_p.K328K	NM_133259	NP_573566	P42704	LPPRC_HUMAN	Homo sapiens leucine-rich PPR-motif containing (LRPPRC), mRNA.	428					mRNA transport|mitochondrion transport along microtubule|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	RNA binding|beta-tubulin binding|microtubule binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CCTTCACAGCCTTCATTAAGG	0.383000												
POU4F2	5458	broad.mit.edu	37	4	147561859	147561859	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:147561859G>A	uc003ikv.3	+	1	1377	c.1129G>A	c.(1129-1131)Gcc>Acc	p.A377T		NM_004575	NP_004566	Q12837	PO4F2_HUMAN	Homo sapiens POU class 4 homeobox 2 (POU4F2), mRNA.	377					MAPKKK cascade|estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	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	p.A376A(1)		NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					AAAGATCGCCGCCATCGCGGA	0.557000												
NEDD9	4739	broad.mit.edu	37	6	11190445	11190445	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:11190445C>T	uc003mzv.2	-	4	1824	c.1657G>A	c.(1657-1659)Gca>Aca	p.A553T	NEDD9_uc010joz.2_Missense_Mutation_p.A553T|NEDD9_uc003mzw.3_Missense_Mutation_p.A407T	NM_006403	NP_006394	Q14511	CASL_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 9 (NEDD9), transcript variant 1, mRNA.	553					actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	Golgi apparatus|cell cortex|focal adhesion|lamellipodium|nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			AGGGCCTCTGCGTTGGTGTTG	0.592000												
FRZB	2487	broad.mit.edu	37	2	183730941	183730941	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:183730941G>A	uc002upa.2	-	0	558	c.340C>T	c.(340-342)Cgg>Tgg	p.R114W		NM_001463	NP_001454	Q92765	SFRP3_HUMAN	Homo sapiens frizzled-related protein (FRZB), mRNA.	114	FZ.				Wnt receptor signaling pathway|brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			TGCCGGGCCCGCTCGCACACA	0.627000												
RNF6	6049	broad.mit.edu	37	13	26792703	26792703	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:26792703G>A	uc001uqo.3	-	3	579	c.234C>T	c.(232-234)ggC>ggT	p.G78G	RNF6_uc001uqn.1_Silent_p.G78G|RNF6_uc001uqp.3_Silent_p.G78G|RNF6_uc001uqq.3_Silent_p.G78G|RNF6_uc010tdk.2_5'UTR	NM_183044	NP_898865	Q9Y252	RNF6_HUMAN	Homo sapiens ring finger protein (C3H2C3 type) 6 (RNF6), transcript variant 3, mRNA.	78					negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	PML body|axon|cytoplasm	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		GTTCCTTGACGCCATCTAACC	0.403000												
C15orf24	56851	broad.mit.edu	37	15	34393956	34393956	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:34393956C>T	uc001zhm.3	-	0	98	c.85G>A	c.(85-87)Gct>Act	p.A29T	PGBD4_uc001zho.3_5'Flank	NM_020154	NP_064539	Q9NPA0	CO024_HUMAN	Homo sapiens chromosome 15 open reading frame 24 (C15orf24), mRNA.	29						cytoplasm|integral to membrane	carbohydrate binding|carboxypeptidase activity|purine nucleotide binding			large_intestine(1)|lung(5)|skin(1)	7		all_lung(180;1.76e-08)		all cancers(64;2.02e-17)|GBM - Glioblastoma multiforme(113;2.15e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)		TCAGCAGCAGCCCCGGGCACC	0.637000												
NEK2	4751	broad.mit.edu	37	1	211842455	211842455	+	Splice_Site	SNP	G	G	A	rs140995957		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:211842455G>A	uc001hir.2	-	6	1136	c.985_splice	c.e6+1	p.Q329_splice	NEK2_uc021piq.1_Splice_Site_p.Q329_splice|NEK2_uc021pir.1_Splice_Site_p.Q79_splice|NEK2_uc001his.4_Splice_Site_p.Q329_splice|NEK2_uc001hit.2_Splice_Site	NM_002497	NP_002488	P51955	NEK2_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 2 (NEK2), transcript variant 1, mRNA.	329	Interaction with PCNT.|Leucine-zipper.|Necessary for interaction with MAD1L1.				G2/M transition of mitotic cell cycle|cell division|centrosome separation|meiosis|protein autophosphorylation|regulation of mitosis	centrosome|condensed chromosome kinetochore|cytosol|nucleolus	ATP binding|metal ion binding|protein binding|protein phosphatase binding|protein serine/threonine kinase activity			breast(2)|stomach(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546)		TCAGACTTACGCTCCAATCTT	0.423000												
LPPR5	163404	broad.mit.edu	37	1	99380468	99380468	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:99380468G>A	uc001dsb.3	-	4	1029	c.807C>T	c.(805-807)tgC>tgT	p.C269C	LPPR5_uc001dsc.3_Silent_p.C269C	NM_001037317	NP_001032394	Q32ZL2	LPPR5_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 5 (LPPR5), transcript variant 1, mRNA.	269						integral to membrane	hydrolase activity										TATTCACCACGCACACAACCT	0.393000												
PCSK5	5125	broad.mit.edu	37	9	78969113	78969113	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:78969113C>T	uc004akc.2	+	35	5689	c.5151C>T	c.(5149-5151)tgC>tgT	p.C1717C		NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	782					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CCCAGGAGTGCTGTGACTGCC	0.617000												
FTSJD2	23070	broad.mit.edu	37	6	37430612	37430612	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:37430612G>A	uc003ons.3	+	12	1586	c.1333G>A	c.(1333-1335)Gtg>Atg	p.V445M		NM_015050	NP_055865	Q8N1G2	MTR1_HUMAN	Homo sapiens FtsJ methyltransferase domain containing 2 (FTSJD2), mRNA.	445					mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(6)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(2)	31						CAGGTATGTGGTGTGCAAGGG	0.498000												
RBPJ	3516	broad.mit.edu	37	4	26407807	26407807	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:26407807C>T	uc003grx.2	+	3	345	c.109C>T	c.(109-111)Cga>Tga	p.R37*	RBPJ_uc003gry.2_Nonsense_Mutation_p.R22*|RBPJ_uc003grz.2_Nonsense_Mutation_p.R37*|RBPJ_uc011bxt.2_Nonsense_Mutation_p.R37*|RBPJ_uc003gsa.2_Nonsense_Mutation_p.R23*|RBPJ_uc003gsb.2_Nonsense_Mutation_p.R24*	NM_005349	NP_005340	Q06330	SUH_HUMAN	Homo sapiens recombination signal binding protein for immunoglobulin kappa J region (RBPJ), transcript variant 1, mRNA.	37					DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				GGAAGCTATGCGAAATTATTT	0.323000												
TFAP2B	7021	broad.mit.edu	37	6	50796340	50796340	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:50796340A>C	uc003pag.3	+	2	715	c.549A>C	c.(547-549)gaA>gaC	p.E183D		NM_003221	NP_003212	Q92481	AP2B_HUMAN	Homo sapiens transcription factor AP-2 beta (activating enhancer binding protein 2 beta) (TFAP2B), mRNA.	183					nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.E183V(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					AGTCAGTTGAAGATGCCAATA	0.338000												
ZFAT	57623	broad.mit.edu	37	8	135524778	135524778	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:135524778C>T	uc003yup.3	-	13	3487	c.3301G>A	c.(3301-3303)Gtt>Att	p.V1101I	ZFAT_uc011ljj.2_Missense_Mutation_p.V220I|ZFAT_uc003yun.3_Missense_Mutation_p.V1089I|ZFAT_uc003yuo.3_Missense_Mutation_p.V1089I|ZFAT_uc010meh.3_Intron|ZFAT_uc010mej.3_Missense_Mutation_p.V1039I|ZFAT_uc010mei.3_Non-coding_Transcript|ZFAT_uc003yuq.3_Missense_Mutation_p.V1089I	NM_020863	NP_001161055	Q9P243	ZFAT_HUMAN	Homo sapiens zinc finger and AT hook domain containing (ZFAT), transcript variant 1, mRNA.	1101					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GTCCCTTGAACGTCTTCTTCG	0.532000												
TNKS1BP1	85456	broad.mit.edu	37	11	57076125	57076125	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:57076125C>A	uc001njr.3	-	4	4372	c.4060G>T	c.(4060-4062)Gag>Tag	p.E1354*	TNKS1BP1_uc001njs.3_Nonsense_Mutation_p.E1354*|TNKS1BP1_uc009ymd.1_Nonsense_Mutation_p.E805*	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	Homo sapiens tankyrase 1 binding protein 1, 182kDa (TNKS1BP1), mRNA.	1354	Acidic.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CCAAAGAGCTCCACATTCTGG	0.647000												
ZFP82	284406	broad.mit.edu	37	19	36884211	36884211	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:36884211C>A	uc002ody.1	-	4	1266	c.1031G>T	c.(1030-1032)gGg>gTg	p.G344V		NM_133466	NP_597723	Q8N141	ZFP82_HUMAN	Homo sapiens zinc finger protein 82 homolog (mouse) (ZFP82), mRNA.	344					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C343C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AAAGGCCTTCCCGCATTCCTT	0.433000												
PCDHB14	56122	broad.mit.edu	37	5	140604673	140604673	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:140604673C>T	uc003ljb.3	+	0	1596	c.1596C>T	c.(1594-1596)ggC>ggT	p.G532G		NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	Homo sapiens protocadherin beta 14 (PCDHB14), mRNA.	532	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCGCGTGGGCGCCACAGACC	0.667000												
LRCH3	84859	broad.mit.edu	37	3	197559147	197559147	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:197559147A>G	uc011bul.1	+	7	1066	c.1061A>G	c.(1060-1062)tAc>tGc	p.Y354C	LRCH3_uc003fyj.1_Missense_Mutation_p.Y354C|LRCH3_uc011bum.1_Missense_Mutation_p.Y354C|LRCH3_uc011bun.1_Missense_Mutation_p.Y228C|LRCH3_uc003fyk.2_5'UTR	NM_032773	NP_116162	Q96II8	LRCH3_HUMAN	Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 3 (LRCH3), mRNA.	354						extracellular region				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		GAAAGCCAGTACCAAGAGAAC	0.398000												
OR5P3	120066	broad.mit.edu	37	11	7846790	7846790	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:7846790G>T	uc010rbg.2	-	0	730	c.730C>A	c.(730-732)Cac>Aac	p.H244N		NM_153445	NP_703146	Q8WZ94	OR5P3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily P, member 3 (OR5P3), mRNA.	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCAGTGAGGTGGGAGGTGCAG	0.502000												
MAGI2	9863	broad.mit.edu	37	7	77824371	77824371	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:77824371G>A	uc003ugx.3	-	11	2343	c.2089C>T	c.(2089-2091)Cga>Tga	p.R697*	MAGI2_uc003ugy.3_Nonsense_Mutation_p.R697*|MAGI2_uc010ldx.1_Nonsense_Mutation_p.R306*|MAGI2_uc010ldy.1_Nonsense_Mutation_p.R306*	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.	697						cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TTCTCCCATCGGTCCATTATC	0.478000												
PGAP1	80055	broad.mit.edu	37	2	197763060	197763060	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:197763060C>A	uc002utw.3	-	5	955	c.841G>T	c.(841-843)Gac>Tac	p.D281Y	PGAP1_uc002utx.3_Missense_Mutation_p.D107Y|PGAP1_uc002uty.1_Missense_Mutation_p.D281Y|PGAP1_uc010zgv.1_Non-coding_Transcript|PGAP1_uc010fsj.2_Missense_Mutation_p.D107Y	NM_024989	NP_079265	Q75T13	PGAP1_HUMAN	Homo sapiens post-GPI attachment to proteins 1 (PGAP1), mRNA.	281					C-terminal protein lipidation|attachment of GPI anchor to protein|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						GAGAGGTGGTCTGTTGAGACC	0.353000												
DNAI1	27019	broad.mit.edu	37	9	34514714	34514714	+	Missense_Mutation	SNP	G	G	A	rs145483542		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:34514714G>A	uc003zum.3	+	17	1988	c.1795G>A	c.(1795-1797)Gca>Aca	p.A599T		NM_012144	NP_036276	Q9UI46	DNAI1_HUMAN	Homo sapiens dynein, axonemal, intermediate chain 1 (DNAI1), mRNA.	599					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		TACTGTGTTCGCAGCAGTCAC	0.562000									Kartagener syndrome			
RCL1	10171	broad.mit.edu	37	9	4844593	4844593	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:4844593C>T	uc003zis.2	+	6	1037	c.779C>T	c.(778-780)gCc>gTc	p.A260V	RCL1_uc010mhl.1_Missense_Mutation_p.A74V	NM_005772	NP_005763	Q9Y2P8	RCL1_HUMAN	Homo sapiens RNA terminal phosphate cyclase-like 1 (RCL1), mRNA.	260					RNA processing|ribosome biogenesis	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)		GCTGAACTGGCCTCCAACCCC	0.582000												
ZNF638	27332	broad.mit.edu	37	2	71627611	71627611	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:71627611C>T	uc002shx.3	+	14	2983	c.2660C>T	c.(2659-2661)gCt>gTt	p.A887V	ZNF638_uc010yqw.1_Missense_Mutation_p.A466V|ZNF638_uc002shz.3_Missense_Mutation_p.A887V|ZNF638_uc002shy.3_Missense_Mutation_p.A887V|ZNF638_uc002sia.3_Missense_Mutation_p.A887V|ZNF638_uc002sib.1_Missense_Mutation_p.A887V|ZNF638_uc002sic.3_5'UTR	NM_014497	NP_055312	Q14966	ZN638_HUMAN	Homo sapiens zinc finger protein 638 (ZNF638), transcript variant 1, mRNA.	887					RNA splicing	cytoplasm|nuclear speck	RNA binding|double-stranded DNA binding|nucleotide binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TATTAAGATGCTGCTTTGGAG	0.299000												
STARD7	56910	broad.mit.edu	37	2	96858204	96858204	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:96858204G>A	uc002svm.4	-	5	1147	c.746C>T	c.(745-747)gCt>gTt	p.A249V	STARD7_uc002svl.3_Missense_Mutation_p.A27V	NM_020151	NP_064536	Q9NQZ5	STAR7_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 7 (STARD7), mRNA.	249	START.					mitochondrion				endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|stomach(2)	14						ATGCTCCACAGCACTGGTAAG	0.453000												
RREB1	6239	broad.mit.edu	37	6	7229286	7229286	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:7229286C>T	uc003mxb.3	+	9	1446	c.954C>T	c.(952-954)tgC>tgT	p.C318C	RREB1_uc021yky.1_Silent_p.C318C|RREB1_uc003mxc.3_Silent_p.C318C|RREB1_uc010jnx.3_Silent_p.C318C|RREB1_uc021ykz.1_Silent_p.C318C|RREB1_uc021yla.1_Intron	NM_001003699	NP_001003699	Q92766	RREB1_HUMAN	Homo sapiens ras responsive element binding protein 1 (RREB1), transcript variant 1, mRNA.	318					Ras protein signal transduction|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GTTTTGTCTGCGACACCTGTG	0.567000												
KRT6C	286887	broad.mit.edu	37	12	52864995	52864995	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:52864995A>T	uc001sal.4	-	4	1046	c.998T>A	c.(997-999)aTc>aAc	p.I333N		NM_173086	NP_775109	P48668	K2C6C_HUMAN	Homo sapiens keratin 6C (KRT6C), mRNA.	333	Linker 12.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		CTCAGCGATGATGCTGTCCAG	0.582000												
OGT	8473	broad.mit.edu	37	X	70779183	70779183	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:70779183C>T	uc004eaa.2	+	12	1907	c.1669C>T	c.(1669-1671)Cgt>Tgt	p.R557C	BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.2_Missense_Mutation_p.R547C|OGT_uc004eac.3_Missense_Mutation_p.R418C|OGT_uc004ead.3_Missense_Mutation_p.R176C	NM_181672	NP_858058	O15294	OGT1_HUMAN	Homo sapiens O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase) (OGT), transcript variant 1, mRNA.	557					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	MLL5-L complex|cytosol	enzyme activator activity|protein N-acetylglucosaminyltransferase activity|protein binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					TGGTCGGCTGCGTGTAGGATA	0.398000												
IFNB1	3456	broad.mit.edu	37	9	21077640	21077640	+	Missense_Mutation	SNP	C	C	T	rs146710785	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:21077640C>T	uc003zok.3	-	0	304	c.229G>A	c.(229-231)Gca>Aca	p.A77T		NM_002176	NP_002167	P01574	IFNB_HUMAN	Homo sapiens interferon, beta 1, fibroblast (IFNB1), mRNA.	77					B cell proliferation|activation of caspase activity|blood coagulation|cellular response to exogenous dsRNA|defense response to virus|induction of apoptosis|natural killer cell activation|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of cell proliferation|negative regulation of viral genome replication|negative regulation of viral transcription|negative regulation of virion penetration into host cell|positive regulation of innate immune response|positive regulation of transcription from RNA polymerase II promoter|regulation of MHC class I biosynthetic process|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding|transcription corepressor activity	p.A76T(1)		breast(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	12				GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11)	Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)	ATGGTCAATGCGGCGTCCTCC	0.473000												
PAPL	390928	broad.mit.edu	37	19	39590899	39590899	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:39590899G>A	uc002oki.3	+	4	812	c.538G>A	c.(538-540)Gcc>Acc	p.A180T	PAPL_uc010egl.3_Intron	NM_001004318	NP_001004318	Q6ZNF0	PAPL_HUMAN	Homo sapiens iron/zinc purple acid phosphatase-like protein (PAPL), mRNA.	180						extracellular region	acid phosphatase activity|metal ion binding										TCAGGACAACGCCCGTGTTGG	0.587000												
DISP1	84976	broad.mit.edu	37	1	223177973	223177973	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:223177973C>T	uc001hnu.2	+	9	3560	c.3234C>T	c.(3232-3234)cgC>cgT	p.R1078R		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA.	1078					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		CTCTGAGTCGCGTGGGCTCTG	0.592000												
DSC1	1823	broad.mit.edu	37	18	28714691	28714691	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:28714691C>T	uc002kwn.3	-	11	1982	c.1720G>A	c.(1720-1722)Gca>Aca	p.A574T	DSC1_uc002kwm.3_Missense_Mutation_p.A574T	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	574	Cadherin 4.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	p.A574S(3)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			ATTTGAGGTGCGTGATCGTTG	0.368000												
HBP1	26959	broad.mit.edu	37	7	106827054	106827054	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:106827054G>A	uc003vdy.3	+	5	879	c.693G>A	c.(691-693)tgG>tgA	p.W231*	HBP1_uc011klv.2_Nonsense_Mutation_p.W241*|HBP1_uc003vdz.3_Nonsense_Mutation_p.W231*|HBP1_uc003vea.3_Nonsense_Mutation_p.W231*|HBP1_uc003veb.1_Nonsense_Mutation_p.W231*	NM_012257	NP_036389	O60381	HBP1_HUMAN	Homo sapiens HMG-box transcription factor 1 (HBP1), transcript variant 2, mRNA.	231	AXH.				Wnt receptor signaling pathway|cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						ATAAGGAATGGCAAGATGTTG	0.373000												
MEGF10	84466	broad.mit.edu	37	5	126755870	126755870	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:126755870C>T	uc003kuh.4	+	12	1923	c.1561C>T	c.(1561-1563)Cgc>Tgc	p.R521C	MEGF10_uc010jdc.1_Missense_Mutation_p.R521C|MEGF10_uc010jdd.1_Missense_Mutation_p.R521C|MEGF10_uc003kui.4_Missense_Mutation_p.R521C	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	Homo sapiens multiple EGF-like-domains 10 (MEGF10), mRNA.	521	EGF-like 9.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		ACCTGGATGGCGCGGGGAGAA	0.557000												
IRX4	50805	broad.mit.edu	37	5	1879729	1879729	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:1879729G>A	uc003jcz.2	-	3	744	c.625C>T	c.(625-627)Ccg>Tcg	p.P209S	IRX4_uc011cmf.1_Missense_Mutation_p.P70S	NM_016358	NP_057442	P78413	IRX4_HUMAN	Homo sapiens iroquois homeobox 4 (IRX4), mRNA.	209					heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		TTCCGCGGCGGCCACGTCATC	0.662000												
THRAP3	9967	broad.mit.edu	37	1	36752132	36752132	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:36752132C>T	uc001cae.4	+	3	525	c.301C>T	c.(301-303)Cga>Tga	p.R101*	THRAP3_uc001caf.4_Nonsense_Mutation_p.R101*|THRAP3_uc001cag.1_Nonsense_Mutation_p.R101*	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	Homo sapiens thyroid hormone receptor associated protein 3 (THRAP3), mRNA.	101	Arg-rich.|Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.R101*(4)		breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCAATATAACCGAGGAGGCTA	0.502000			T	USP6	aneurysmal bone cysts							
LIMA1	51474	broad.mit.edu	37	12	50594644	50594644	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:50594644G>A	uc001rwj.4	-	6	1062	c.888C>T	c.(886-888)ggC>ggT	p.G296G	LIMA1_uc001rwg.4_5'UTR|LIMA1_uc001rwh.4_Silent_p.G136G|LIMA1_uc001rwi.4_Silent_p.G136G|LIMA1_uc001rwk.4_Silent_p.G296G|LIMA1_uc010sms.2_Non-coding_Transcript|LIMA1_uc010smr.2_Non-coding_Transcript	NM_016357	NP_001230704	Q9UHB6	LIMA1_HUMAN	Homo sapiens LIM domain and actin binding 1 (LIMA1), transcript variant 2, mRNA.	296					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding	p.G296G(2)		NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						TTTTGATTTCGCCACCACTGG	0.383000												
DDX4	54514	broad.mit.edu	37	5	55082359	55082359	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:55082359C>T	uc003jqg.4	+	13	977	c.878C>T	c.(877-879)gCt>gTt	p.A293V	DDX4_uc010ivz.3_Missense_Mutation_p.A273V|DDX4_uc003jqh.4_Missense_Mutation_p.A259V|DDX4_uc003jqj.3_Missense_Mutation_p.A144V	NM_024415	NP_077726	Q9NQI0	DDX4_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 (DDX4), transcript variant 1, mRNA.	293					multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				TTTGAAGAAGCTAATCTCTGT	0.323000												
RASIP1	54922	broad.mit.edu	37	19	49227759	49227759	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:49227759G>A	uc002pki.3	-	9	2576	c.2379C>T	c.(2377-2379)ggC>ggT	p.G793G	RASIP1_uc002pkh.3_Silent_p.G54G	NM_017805	NP_060275	Q5U651	RAIN_HUMAN	Homo sapiens Ras interacting protein 1 (RASIP1), mRNA.	793	Dilute.				signal transduction	Golgi stack|perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		AGAAAGGCCGGCCTTGACCTG	0.567000												
YTHDF2	51441	broad.mit.edu	37	1	29070189	29070189	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:29070189C>T	uc021okf.1	+	4	1670	c.1407C>T	c.(1405-1407)ggC>ggT	p.G469G	YTHDF2_uc001brc.3_Silent_p.G469G|YTHDF2_uc010ofx.2_Silent_p.G419G|YTHDF2_uc001bre.3_Silent_p.G419G	NM_001173128	NP_001166299	Q9Y5A9	YTHD2_HUMAN	Homo sapiens YTH domain family, member 2 (YTHDF2), transcript variant 2, mRNA.	469	YTH.				humoral immune response					NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		ACTTCTGTGGCGTGGCAGAAA	0.483000												
DDC	1644	broad.mit.edu	37	7	50611704	50611704	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:50611704C>T	uc003tpg.4	-	1	281	c.80G>A	c.(79-81)cGc>cAc	p.R27H	DDC_uc022ade.1_Missense_Mutation_p.R27H|DDC_uc003tpf.4_Missense_Mutation_p.R27H|DDC_uc022adb.1_Missense_Mutation_p.R27H|DDC_uc022adc.1_Missense_Mutation_p.R27H|DDC_uc022add.1_Missense_Mutation_p.R27H|DDC_uc022adf.1_Missense_Mutation_p.R27H	NM_001082971	NP_001076440	P20711	DDC_HUMAN	Homo sapiens dopa decarboxylase (aromatic L-amino acid decarboxylase) (DDC), transcript variant 1, mRNA.	27					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	GTAGACCTGGCGTCCCTCAAT	0.582000												
KCNJ10	3766	broad.mit.edu	37	1	160011659	160011659	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:160011659G>T	uc001fuw.2	-	1	904	c.664C>A	c.(664-666)Caa>Aaa	p.Q222K		NM_002241	NP_002232	P78508	IRK10_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 10 (KCNJ10), mRNA.	222						integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCCTTGGTTTGGTGGGTCTGA	0.527000												
PPP3CA	5530	broad.mit.edu	37	4	101947170	101947170	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:101947170G>T	uc011cen.1	-	13	2093	c.1418C>A	c.(1417-1419)gCc>gAc	p.A473D	PPP3CA_uc003hvu.2_Missense_Mutation_p.A463D|PPP3CA_uc010ilj.2_Missense_Mutation_p.A421D|PPP3CA_uc003hvt.2_Missense_Mutation_p.A450D|PPP3CA_uc003hvs.2_Missense_Mutation_p.A406D|PPP3CA_uc010ilk.2_Missense_Mutation_p.A241D	NM_000944	NP_000935	Q08209	PP2BA_HUMAN	Homo sapiens protein phosphatase 3, catalytic subunit, alpha isozyme (PPP3CA), transcript variant 1, mRNA.	473	Inhibitory domain.				protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		TAAGCCCTTGGCTTCCTCGAA	0.438000												
GUCY2F	2986	broad.mit.edu	37	X	108719095	108719095	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:108719095T>C	uc022cch.1	-	0	156	c.71A>G	c.(70-72)cAc>cGc	p.H24R	GUCY2F_uc011msq.2_Non-coding_Transcript|GUCY2F_uc004eod.4_Missense_Mutation_p.H24R	NM_001522	NP_001513	P51841	GUC2F_HUMAN	Homo sapiens guanylate cyclase 2F, retinal (GUCY2F), mRNA.	24					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						AAGGCCATGGTGTCCCAGCAG	0.562000											OREG0019905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ZFHX3	463	broad.mit.edu	37	16	72822480	72822480	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:72822480C>T	uc002fck.3	-	9	10368	c.9695G>A	c.(9694-9696)cGc>cAc	p.R3232H	ZFHX3_uc002fcl.3_Missense_Mutation_p.R2318H	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	3232					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TTTGTCCTTGCGTTGCTGCTG	0.612000												
KIAA0408	9729	broad.mit.edu	37	6	127767937	127767937	+	Silent	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:127767937A>G	uc011ebs.2	-	4	1863	c.1527T>C	c.(1525-1527)ccT>ccC	p.P509P	KIAA0408_uc003qbc.3_Silent_p.P509P|SOGA3_uc003qbd.3_3'UTR|KIAA0408_uc003qba.3_Intron|KIAA0408_uc003qbb.3_Silent_p.P392P	NM_014702	NP_055517	Q6ZU52	K0408_HUMAN	Homo sapiens KIAA0408 (KIAA0408), mRNA.	509							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)		TGGGATTATCAGGCACATTTT	0.463000												
MN1	4330	broad.mit.edu	37	22	28195159	28195159	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:28195159C>T	uc003adj.3	-	0	2328	c.1373G>A	c.(1372-1374)cGc>cAc	p.R458H		NM_002430	NP_002421	Q10571	MN1_HUMAN	Homo sapiens meningioma (disrupted in balanced translocation) 1 (MN1), mRNA.	458							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						AAAGTCGAAGCGCGGCCTCTT	0.647000			T	ETV6	"""AML, meningioma"""							
HNRNPM	4670	broad.mit.edu	37	19	8551958	8551958	+	Splice_Site	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:8551958C>T	uc010dwe.3	+	15	2109	c.2029_splice	c.e15+1	p.G677_splice	HNRNPM_uc010dwd.3_Splice_Site_p.G638_splice|HNRNPM_uc002mka.3_Splice_Site_p.G542_splice|HNRNPM_uc002mkb.1_5'Flank	NM_005968	NP_005959	P52272	HNRPM_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein M (HNRNPM), transcript variant 1, mRNA.	677	RRM 3.				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	RNA binding|nucleotide binding|protein domain specific binding			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						TCAACGAGTGCGGTAAGTGTT	0.522000												
PHF13	148479	broad.mit.edu	37	1	6680350	6680350	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:6680350G>A	uc001aob.4	+	2	1000	c.629G>A	c.(628-630)cGa>cAa	p.R210Q		NM_153812	NP_722519	Q86YI8	PHF13_HUMAN	Homo sapiens PHD finger protein 13 (PHF13), mRNA.	210					cell division|chromatin modification|mitotic chromosome condensation	nucleoplasm	chromatin binding|methylated histone residue binding|zinc ion binding	p.R210L(2)|p.R210*(1)		endometrium(3)|large_intestine(1)|lung(3)	7	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)		GTGGTGTTCCGAGATGAGGAC	0.507000												
PCLO	27445	broad.mit.edu	37	7	82545507	82545507	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:82545507G>A	uc003uhx.2	-	6	12084	c.11795C>T	c.(11794-11796)gCa>gTa	p.A3932V	PCLO_uc003uhv.2_Missense_Mutation_p.A3932V|PCLO_uc010lec.3_Missense_Mutation_p.A897V	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3863					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGACATTGTTGCCACAGCTTG	0.458000												
HDAC2	3066	broad.mit.edu	37	6	114266574	114266574	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:114266574G>T	uc003pwd.2	-	9	1330	c.1043C>A	c.(1042-1044)cCt>cAt	p.P348H	HDAC2_uc003pwc.2_Missense_Mutation_p.P318H|HDAC2_uc003pwe.2_Missense_Mutation_p.P318H	NM_001527	NP_001518	Q92769	HDAC2_HUMAN	Homo sapiens histone deacetylase 2 (HDAC2), transcript variant 1, mRNA.	348					blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	ESC/E(Z) complex|NuRD complex|Sin3 complex|cytoplasm	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|sequence-specific DNA binding|transcription factor binding			biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Vorinostat(DB02546)	CATGTTTGAAGGACTAATATG	0.279000												
SLITRK6	84189	broad.mit.edu	37	13	86369760	86369760	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:86369760C>T	uc001vll.1	-	1	1343	c.884G>A	c.(883-885)cGc>cAc	p.R295H	SLITRK6_uc021rla.1_Missense_Mutation_p.R295H	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA.	295						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		AGTTGACATGCGACTATCATT	0.418000												
ENTPD6	955	broad.mit.edu	37	20	25187856	25187856	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:25187856G>A	uc002wuj.2	+	2	379	c.199G>A	c.(199-201)Gcc>Acc	p.A67T	ENTPD6_uc010zsy.1_Missense_Mutation_p.A67T|ENTPD6_uc010gdj.1_Missense_Mutation_p.A39T|ENTPD6_uc002wum.2_Missense_Mutation_p.A50T|ENTPD6_uc010zta.1_Missense_Mutation_p.A67T|ENTPD6_uc002wuk.2_Missense_Mutation_p.A66T|ENTPD6_uc002wul.2_Missense_Mutation_p.A66T|ENTPD6_uc010ztb.1_Missense_Mutation_p.A39T|ENTPD6_uc010ztc.1_Missense_Mutation_p.A39T|ENTPD6_uc002wuo.2_Intron|ENTPD6_uc010zsz.1_Intron|ENTPD6_uc010ztd.1_5'Flank	NM_001247	NP_001238	O75354	ENTP6_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 6 (putative) (ENTPD6), transcript variant 1, mRNA.	67						Golgi membrane|integral to membrane	nucleoside-diphosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						CCGGGCCACCGCCACCCAGGC	0.687000												
SLC18A3	6572	broad.mit.edu	37	10	50819068	50819068	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:50819068G>A	uc001jhw.3	+	0	722	c.282G>A	c.(280-282)acG>acA	p.T94T	CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank	NM_003055	NP_003046	Q16572	VACHT_HUMAN	Homo sapiens solute carrier family 18 (vesicular acetylcholine), member 3 (SLC18A3), mRNA.	94					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						GCGCCTACACGGCCAACACCT	0.726000												
MYO18B	84700	broad.mit.edu	37	22	26157081	26157081	+	Missense_Mutation	SNP	G	G	A	rs139296373	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:26157081G>A	uc003abz.1	+	1	272	c.22G>A	c.(22-24)Gcc>Acc	p.A8T	MYO18B_uc003aca.1_5'Flank|MYO18B_uc010guy.1_5'Flank|MYO18B_uc010guz.1_5'Flank|MYO18B_uc011aka.1_5'Flank	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	8						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity	p.A8T(2)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						ATCACGCCTCGCCCTGTGGGA	0.592000												
SMG6	23293	broad.mit.edu	37	17	2202208	2202208	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:2202208C>T	uc002fub.1	-	1	1894	c.1839G>A	c.(1837-1839)gcG>gcA	p.A613A	SMG6_uc002fud.2_Silent_p.A582A	NM_017575	NP_060045	Q86US8	EST1A_HUMAN	Homo sapiens smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG6), transcript variant 1, mRNA.	613					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding	p.A613A(2)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						ACCTGAGTTGCGCCATCTTCT	0.552000												
SMCHD1	23347	broad.mit.edu	37	18	2724949	2724949	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:2724949C>T	uc002klm.4	+	20	2845	c.2656C>T	c.(2656-2658)Cga>Tga	p.R886*	SMCHD1_uc002klk.4_Non-coding_Transcript|SMCHD1_uc002kll.4_Non-coding_Transcript	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	Homo sapiens structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1), mRNA.	886					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						TTGTGTAATTCGAGGTGTTAC	0.338000												
ZRANB1	54764	broad.mit.edu	37	10	126671767	126671767	+	Silent	SNP	G	G	A	rs75293113	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:126671767G>A	uc010qug.2	+	7	1754	c.1650G>A	c.(1648-1650)acG>acA	p.T550T	ZRANB1_uc001lic.3_Silent_p.T524T	NM_017580	NP_060050	Q9UGI0	ZRAN1_HUMAN	Homo sapiens zinc finger, RAN-binding domain containing 1 (ZRANB1), mRNA.	524	OTU.|TRAF-binding.				Wnt receptor signaling pathway|positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination	aggresome|centrosome|intermediate filament cytoskeleton|nucleolus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding	p.T524T(1)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		TGGAGCAGACGCACATTTTTG	0.363000												
PROX1	5629	broad.mit.edu	37	1	214171100	214171100	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:214171100C>T	uc001hkh.3	+	1	1494	c.1222C>T	c.(1222-1224)Cgc>Tgc	p.R408C	PROX1_uc001hkg.1_Missense_Mutation_p.R408C	NM_002763	NP_002754	Q92786	PROX1_HUMAN	Homo sapiens prospero homeobox 1 (PROX1), mRNA.	408					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of S phase of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CGCCAACCAGCGCCTGCAGTG	0.587000												
ARHGEF17	9828	broad.mit.edu	37	11	73070963	73070963	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:73070963G>A	uc001otu.3	+	9	4193	c.4172G>A	c.(4171-4173)aGc>aAc	p.S1391N		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 17 (ARHGEF17), mRNA.	1391					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						GGCCAAATGAGCAAGCTCTCT	0.602000												
CCDC102B	79839	broad.mit.edu	37	18	66513554	66513554	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:66513554C>T	uc002lkk.2	+	5	1055	c.832C>T	c.(832-834)Cgc>Tgc	p.R278C	CCDC102B_uc002lki.2_Missense_Mutation_p.R278C|CCDC102B_uc002lkj.1_Missense_Mutation_p.R278C	NM_001093729	NP_079057	Q68D86	C102B_HUMAN	Homo sapiens coiled-coil domain containing 102B (CCDC102B), transcript variant 1, mRNA.	278								p.R278C(2)		breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				ATTTAGAATGCGCACAGCTTT	0.318000												
FAM196A	642938	broad.mit.edu	37	10	128973888	128973888	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:128973888C>T	uc001lju.1	-	0	813	c.772G>A	c.(772-774)Gca>Aca	p.A258T	DOCK1_uc001ljt.3_Intron|DOCK1_uc010qun.2_Intron|FAM196A_uc010quo.1_Missense_Mutation_p.A258T|FAM196A_uc001ljv.1_Missense_Mutation_p.A258T|FAM196A_uc009yap.1_Missense_Mutation_p.A258T	NM_001039762	NP_001034851	Q6ZSG2	F196A_HUMAN	Homo sapiens family with sequence similarity 196, member A (FAM196A), mRNA.	258										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						AGGGCAGGTGCGTAAACGGTG	0.667000												
ERC1	23085	broad.mit.edu	37	12	1299205	1299205	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:1299205G>A	uc001qjb.2	+	11	2579	c.2338G>A	c.(2338-2340)Gct>Act	p.A780T	ERC1_uc001qiz.2_Non-coding_Transcript|ERC1_uc001qjc.2_Missense_Mutation_p.A752T|ERC1_uc001qja.2_Non-coding_Transcript|ERC1_uc001qjd.2_Non-coding_Transcript|ERC1_uc001qjf.2_Missense_Mutation_p.A780T|ERC1_uc010sdv.1_Missense_Mutation_p.A528T|ERC1_uc009zdp.3_Missense_Mutation_p.A420T|ERC1_uc001qje.2_Non-coding_Transcript	NM_178040	NP_829884	Q8IUD2	RB6I2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 1 (ERC1), transcript variant epsilon, mRNA.	780					I-kappaB phosphorylation|multicellular organismal development|positive regulation of NF-kappaB transcription factor activity|positive regulation of anti-apoptosis|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			TAAGAAGATAGCTGAGTTGGA	0.383000												
C18orf26	284254	broad.mit.edu	37	18	52262274	52262274	+	Silent	SNP	C	C	T	rs139420428	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:52262274C>T	uc002lfq.1	+	1	286	c.240C>T	c.(238-240)tgC>tgT	p.C80C		NM_173629	NP_775900	Q8N1N2	CR026_HUMAN	Homo sapiens chromosome 18 open reading frame 26 (C18orf26), mRNA.	80						integral to membrane				endometrium(4)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	11				Colorectal(16;0.0193)|READ - Rectum adenocarcinoma(59;0.178)		CTGGGGTCTGCGTGAACCCAG	0.448000												
OSR1	130497	broad.mit.edu	37	2	19552979	19552979	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:19552979C>T	uc002rdc.3	-	1	891	c.588G>A	c.(586-588)acG>acA	p.T196T		NM_145260	NP_660303	Q8TAX0	OSR1_HUMAN	Homo sapiens odd-skipped related 1 (Drosophila) (OSR1), mRNA.	196					chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development	nucleolus	nucleic acid binding|zinc ion binding			breast(1)|large_intestine(2)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				CGTCGGTGTGCGTCCGCTCAT	0.592000												
SYNGAP1	8831	broad.mit.edu	37	6	33403339	33403339	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:33403339C>T	uc011dri.2	+	6	906	c.711C>T	c.(709-711)gcC>gcT	p.A237A	SYNGAP1_uc003oeo.1_Silent_p.A222A|SYNGAP1_uc010juy.3_Silent_p.A222A|SYNGAP1_uc010juz.3_5'Flank	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN	Homo sapiens synaptic Ras GTPase activating protein 1 (SYNGAP1), mRNA.	237	PH.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						GGTCTGCGGCCGAAAGAGACA	0.512000												
MYO1F	4542	broad.mit.edu	37	19	8604860	8604860	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:8604860G>A	uc002mkg.3	-	15	1801	c.1663C>T	c.(1663-1665)Cgc>Tgc	p.R555C		NM_012335	NP_036467	O00160	MYO1F_HUMAN	Homo sapiens myosin IF (MYO1F), mRNA.	555	Myosin head-like.					unconventional myosin complex	ATP binding|actin binding|calmodulin binding|motor activity	p.R555C(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						GTGCTGGGGCGCCCCTTCTTG	0.637000												
STARD13	90627	broad.mit.edu	37	13	33686932	33686932	+	Silent	SNP	C	C	T	rs145394840		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:33686932C>T	uc001uuw.3	-	8	2544	c.2418G>A	c.(2416-2418)acG>acA	p.T806T	STARD13_uc001uuu.3_Silent_p.T798T|STARD13_uc001uuv.3_Silent_p.T688T|STARD13_uc001uux.3_Silent_p.T771T	NM_178006	NP_443083	Q9Y3M8	STA13_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 13 (STARD13), transcript variant 1, mRNA.	806	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding	p.T806M(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GGTTCATGGGCGTCATCTGAT	0.498000												
ADAM17	6868	broad.mit.edu	37	2	9634874	9634874	+	Silent	SNP	C	C	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:9634874C>G	uc002qzu.3	-	14	1989	c.1806G>C	c.(1804-1806)gtG>gtC	p.V602V	IAH1_uc010yiz.2_Non-coding_Transcript|ADAM17_uc010ewy.3_Silent_p.V602V|ADAM17_uc010ewz.3_Intron	NM_003183	NP_003174	P78536	ADA17_HUMAN	Homo sapiens ADAM metallopeptidase domain 17 (ADAM17), mRNA.	602	Cys-rich.				B cell differentiation|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|T cell differentiation in thymus|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|positive regulation of T cell chemotaxis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	PDZ domain binding|SH3 domain binding|integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		CCCTGCAGCACACCTTGCAGG	0.502000												
SAMD4A	23034	broad.mit.edu	37	14	55251329	55251329	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:55251329G>A	uc001xbb.3	+	10	2424	c.2116G>A	c.(2116-2118)Gcc>Acc	p.A706T	SAMD4A_uc001xbc.3_Missense_Mutation_p.A619T|SAMD4A_uc001xbg.2_Missense_Mutation_p.A334T	NM_015589	NP_056404	Q9UPU9	SMAG1_HUMAN	Homo sapiens sterile alpha motif domain containing 4A (SAMD4A), transcript variant 1, mRNA.	707					positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity	p.H705H(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						GACCGAACACGCCCTGGGAGG	0.557000												
PTK6	5753	broad.mit.edu	37	20	62162144	62162144	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:62162144G>A	uc002yfg.3	-	5	1009	c.969C>T	c.(967-969)aaC>aaT	p.N323N	PTK6_uc011aay.2_Silent_p.N222N|PTK6_uc011aaz.1_Silent_p.N85N	NM_005975	NP_005966	Q13882	PTK6_HUMAN	Homo sapiens PTK6 protein tyrosine kinase 6 (PTK6), transcript variant 1, mRNA.	323	Protein kinase.					cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)			TGCAGAGGGTGTTTTCCCCGA	0.637000												
GRAMD4	23151	broad.mit.edu	37	22	47070572	47070572	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:47070572G>A	uc003bhx.3	+	14	1452	c.1403G>A	c.(1402-1404)cGc>cAc	p.R468H	GRAMD4_uc010had.3_Missense_Mutation_p.R407H|GRAMD4_uc003bhy.3_5'UTR	NM_015124	NP_055939	Q6IC98	GRAM4_HUMAN	Homo sapiens GRAM domain containing 4 (GRAMD4), mRNA.	468	GRAM.				apoptosis	integral to membrane|mitochondrial membrane				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		AATGGCTGGCGCTGCTGCCTC	0.617000												
CAPN2	824	broad.mit.edu	37	1	223933116	223933116	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:223933116G>A	uc001hob.4	+	3	759	c.535G>A	c.(535-537)Gcc>Acc	p.A179T	CAPN2_uc010puy.2_Missense_Mutation_p.A101T	NM_001748	NP_001139540	P17655	CAN2_HUMAN	Homo sapiens calpain 2, (m/II) large subunit (CAPN2), transcript variant 1, mRNA.	179	Calpain catalytic.				proteolysis	cytoplasm|plasma membrane				breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		GTTCTGGAGCGCCCTGCTGGA	0.592000												
ZNF551	90233	broad.mit.edu	37	19	58199015	58199015	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:58199015C>T	uc002qpw.4	+	2	1547	c.1324C>T	c.(1324-1326)Caa>Taa	p.Q442*	ZNF551_uc002qpv.4_Nonsense_Mutation_p.Q385*|ZNF551_uc002qpx.3_Intron	NM_138347	NP_612356	Q7Z340	ZN551_HUMAN	Homo sapiens zinc finger protein 551 (ZNF551), mRNA.	458					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		ATCCTTTAGACAATTCTCTAA	0.418000												
DENND3	22898	broad.mit.edu	37	8	142151331	142151331	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:142151331G>A	uc003yvy.3	+	3	569	c.291G>A	c.(289-291)acG>acA	p.T97T	DENND3_uc003yvw.1_Silent_p.T110T|DENND3_uc003yvx.3_Missense_Mutation_p.R176H|DENND3_uc010mep.3_Silent_p.T110T	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA.	97										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			ATGGCAAAACGCACCGGGAGT	0.532000												
KCNA3	3738	broad.mit.edu	37	1	111216253	111216253	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:111216253C>T	uc001dzv.1	-	0	1403	c.1179G>A	c.(1177-1179)gcG>gcA	p.A393A		NM_002232	NP_002223	P22001	KCNA3_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 3 (KCNA3), mRNA.	393						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCCGCATGGACGCCTTCAGCG	0.587000												
CDH26	60437	broad.mit.edu	37	20	58564055	58564055	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:58564055C>T	uc002ybe.3	+	8	1431	c.1120C>T	c.(1120-1122)Cca>Tca	p.P374S	CDH26_uc002ybf.1_5'UTR|CDH26_uc010zzy.2_Non-coding_Transcript	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	Homo sapiens cadherin 26 (CDH26), transcript variant a, mRNA.	374	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P373P(2)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			GCTTCAGCCGCCAAGGAAGGC	0.557000												
NPAT	4863	broad.mit.edu	37	11	108043647	108043647	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:108043647C>T	uc001pjz.4	-	12	2166	c.2064G>A	c.(2062-2064)acG>acA	p.T688T	NPAT_uc010rvv.2_5'Flank|NPAT_uc001pka.3_Silent_p.T483T	NM_002519	NP_002510	Q14207	NPAT_HUMAN	Homo sapiens nuclear protein, ataxia-telangiectasia locus (NPAT), mRNA.	688					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		CTTCTGGAGGCGTCAGTGCAA	0.433000												
THBS4	7060	broad.mit.edu	37	5	79357547	79357547	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:79357547G>A	uc021yaw.1	+	7	1208	c.1017G>A	c.(1015-1017)gtG>gtA	p.V339V		NM_003248	NP_003239	P35443	TSP4_HUMAN	Homo sapiens thrombospondin 4 (THBS4), mRNA.	339	EGF-like 2; calcium-binding (Potential).				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		ACCCGGGCGTGCACTGCATAA	0.488000												
PRKCB	5579	broad.mit.edu	37	16	23847557	23847557	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:23847557G>A	uc002dmd.3	+	0	258	c.61G>A	c.(61-63)Gcc>Acc	p.A21T	PRKCB_uc002dme.3_Missense_Mutation_p.A21T	NM_212535	NP_997700	P05771	KPCB_HUMAN	Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA.	21					B cell activation|B cell receptor signaling pathway|apoptosis|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|androgen receptor binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	CGTGCGCTTCGCCCGCAAAGG	0.697000												
CHRNB3	1142	broad.mit.edu	37	8	42587142	42587142	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:42587142G>A	uc003xpi.1	+	4	820	c.692G>A	c.(691-693)cGc>cAc	p.R231H		NM_000749	NP_000740	Q05901	ACHB3_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 3 (CHRNB3), mRNA.	231					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GTCCTGAGACGCCTGCCTTTA	0.473000												
DAXX	1616	broad.mit.edu	37	6	33288785	33288785	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:33288785C>T	uc003oec.3	-	2	971	c.767G>A	c.(766-768)cGc>cAc	p.R256H	DAXX_uc021ywn.1_Missense_Mutation_p.R256H|DAXX_uc021ywo.1_Missense_Mutation_p.R256H|DAXX_uc011dre.2_Missense_Mutation_p.R268H|DAXX_uc003oed.3_Missense_Mutation_p.R256H|DAXX_uc011drd.2_Missense_Mutation_p.R181H|DAXX_uc010juw.2_Missense_Mutation_p.R181H	NM_001350	NP_001241646	Q9UER7	DAXX_HUMAN	Homo sapiens death-domain associated protein (DAXX), transcript variant 2, mRNA.	256					activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	PML body|chromosome, centromeric region|cytosol|nucleolus	androgen receptor binding|heat shock protein binding|p53 binding|protein N-terminus binding|protein homodimerization activity|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						GTAGGGGATGCGCTGCTCTAT	0.582000			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM							
C1GALT1C1	29071	broad.mit.edu	37	X	119760637	119760637	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:119760637C>T	uc022cdo.1	-	0	385	c.385G>A	c.(385-387)Gcc>Acc	p.A129T	C1GALT1C1_uc004esy.3_Missense_Mutation_p.A129T|C1GALT1C1_uc004esz.3_Missense_Mutation_p.A129T	NM_152692	NP_689905	Q96EU7	C1GLC_HUMAN	Homo sapiens C1GALT1-specific chaperone 1 (C1GALT1C1), transcript variant 1, mRNA.	129						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	11						TTATCAAAGGCGTATTTGTAA	0.343000												
CAPN7	23473	broad.mit.edu	37	3	15269407	15269407	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:15269407C>T	uc003bzn.3	+	6	1057	c.787C>T	c.(787-789)Cga>Tga	p.R263*		NM_014296	NP_055111	Q9Y6W3	CAN7_HUMAN	Homo sapiens calpain 7 (CAPN7), mRNA.	263	Calpain catalytic.				proteolysis	nucleus	calcium-dependent cysteine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2)	22						CAAGTGGGTACGACCAGAAGA	0.313000												
PTPRB	5787	broad.mit.edu	37	12	70964877	70964877	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:70964877C>T	uc001swb.4	-	10	2675	c.2645G>A	c.(2644-2646)cGc>cAc	p.R882H	PTPRB_uc010sto.2_Missense_Mutation_p.R882H|PTPRB_uc010stp.2_Missense_Mutation_p.R792H|PTPRB_uc001swc.4_Missense_Mutation_p.R1100H|PTPRB_uc001swa.4_Missense_Mutation_p.R1012H|PTPRB_uc001swd.4_Missense_Mutation_p.R1099H|PTPRB_uc009zrr.2_Missense_Mutation_p.R979H	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	882	Fibronectin type-III 10.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TTTGTATTGGCGGCCTGGTGT	0.433000												
LPAR1	1902	broad.mit.edu	37	9	113637839	113637839	+	Silent	SNP	G	G	A	rs61753623	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:113637839G>A	uc011lwo.2	-	2	962	c.960C>T	c.(958-960)agC>agT	p.S320S	LPAR1_uc004bfa.3_Silent_p.S319S|LPAR1_uc011lwm.2_Silent_p.S320S|LPAR1_uc004bfc.3_Silent_p.S319S|LPAR1_uc011lwn.2_Silent_p.S301S|LPAR1_uc004bfb.3_Silent_p.S319S|LPAR1_uc010mub.3_Silent_p.S319S	NM_057159	NP_476500	Q92633	LPAR1_HUMAN	Homo sapiens lysophosphatidic acid receptor 1 (LPAR1), transcript variant 2, mRNA.	319					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane		p.A320V(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						TAAAGGTGGCGCTCATTTCTT	0.552000												
PDHX	8050	broad.mit.edu	37	11	34988232	34988232	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:34988232C>T	uc001mvt.3	+	5	1213	c.687C>T	c.(685-687)acC>acT	p.T229T	PDHX_uc010rep.2_Silent_p.T214T|PDHX_uc010req.2_Intron	NM_003477	NP_003468	O00330	ODPX_HUMAN	Homo sapiens pyruvate dehydrogenase complex, component X (PDHX), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	229					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	16	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	STAD - Stomach adenocarcinoma(6;0.00113)			GCAAGATTACCGAGTCCAGAC	0.502000												
DGKB	1607	broad.mit.edu	37	7	14758253	14758253	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:14758253G>A	uc003ssz.3	-	4	567	c.380C>T	c.(379-381)aCg>aTg	p.T127M	DGKB_uc011jxt.2_Missense_Mutation_p.T120M|DGKB_uc003sta.3_Missense_Mutation_p.T127M|DGKB_uc011jxu.2_Missense_Mutation_p.T127M|DGKB_uc011jxv.1_Missense_Mutation_p.T127M	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	Homo sapiens diacylglycerol kinase, beta 90kDa (DGKB), transcript variant 1, mRNA.	127					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	TGGGGAACACGTATTTGCAGG	0.403000												
CASZ1	54897	broad.mit.edu	37	1	10706370	10706370	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:10706370C>T	uc001aro.3	-	16	3831	c.3511G>A	c.(3511-3513)Gcc>Acc	p.A1171T		NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA.	1171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CAGTCCGTGGCGAGGCAAGGA	0.542000												
PPP2R1A	5518	broad.mit.edu	37	19	52714620	52714620	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:52714620G>A	uc002pyp.3	+	3	673	c.378G>A	c.(376-378)gcG>gcA	p.A126A	PPP2R1A_uc010ydk.2_Silent_p.A71A|PPP2R1A_uc010epm.1_Silent_p.A166A|PPP2R1A_uc002pyq.3_5'UTR	NM_014225	NP_055040	P30153	2AAA_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit A, alpha (PPP2R1A), transcript variant 1, mRNA.	126	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.				G2/M transition of mitotic cell cycle|RNA splicing|ceramide metabolic process|chromosome segregation|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of DNA replication|regulation of Wnt receptor signaling pathway|regulation of cell adhesion|regulation of cell differentiation|regulation of transcription, DNA-dependent|response to organic substance|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		ACCTGGAGGCGCACTTTGTGC	0.662000			Mis		clear cell ovarian carcinoma							
MED20	9477	broad.mit.edu	37	6	41884626	41884626	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:41884626C>T	uc003ork.3	-	1	187	c.66G>A	c.(64-66)gaG>gaA	p.E22E	MED20_uc003orj.3_5'UTR|MED20_uc011duh.2_Silent_p.E22E|MED20_uc011dui.2_Non-coding_Transcript|MED20_uc011duj.2_Intron	NM_004275	NP_004266	Q9H944	MED20_HUMAN	Homo sapiens mediator complex subunit 20 (MED20), mRNA.	22					regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	mediator complex	DNA-directed RNA polymerase activity|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)|pancreas(1)	5	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000367)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GGGTAAGGAGCTCTACGGTTT	0.542000												
FANK1	92565	broad.mit.edu	37	10	127697110	127697110	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:127697110G>A	uc009yan.3	+	8	1022	c.918G>A	c.(916-918)acG>acA	p.T306T	FANK1_uc001ljh.4_Silent_p.T280T|FANK1_uc001lji.3_Silent_p.T274T	NM_145235	NP_660278	Q8TC84	FANK1_HUMAN	Homo sapiens fibronectin type III and ankyrin repeat domains 1 (FANK1), mRNA.	280						cytoplasm|nucleus		p.T280T(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				ATGGAAAGACGCCCCTTATGG	0.468000												
ABCC2	1244	broad.mit.edu	37	10	101560202	101560202	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:101560202C>T	uc001kqf.2	+	8	1230	c.1091C>T	c.(1090-1092)gCa>gTa	p.A364V		NM_000392	NP_000383	Q92887	MRP2_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 2 (ABCC2), mRNA.	364	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	p.A364V(2)		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)	TATCTCTGTGCAATCCTCTTA	0.443000												
SPAG9	9043	broad.mit.edu	37	17	49119004	49119004	+	Missense_Mutation	SNP	C	C	T	rs139684309		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:49119004C>T	uc002itc.3	-	4	808	c.599G>A	c.(598-600)cGc>cAc	p.R200H	SPAG9_uc002itd.3_Missense_Mutation_p.R200H|SPAG9_uc002itb.3_Missense_Mutation_p.R200H|SPAG9_uc002itf.3_Missense_Mutation_p.R35H|SPAG9_uc002ita.3_Missense_Mutation_p.R57H|SPAG9_uc002ite.3_Missense_Mutation_p.R30H|SPAG9_uc002itg.3_Missense_Mutation_p.R57H	NM_001130528	NP_001124000	O60271	JIP4_HUMAN	Homo sapiens sperm associated antigen 9 (SPAG9), transcript variant 1, mRNA.	200					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			TGATATAGGGCGTTCTTTTCT	0.403000												
ZNF382	84911	broad.mit.edu	37	19	37118277	37118277	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:37118277G>A	uc002oek.3	+	4	1591	c.1478G>A	c.(1477-1479)gGg>gAg	p.G493E	ZNF382_uc010efa.3_Missense_Mutation_p.G444E|ZNF382_uc010efb.3_Missense_Mutation_p.G492E|ZNF382_uc002oel.3_Missense_Mutation_p.G492E	NM_032825	NP_116214	Q96SR6	ZN382_HUMAN	Homo sapiens zinc finger protein 382 (ZNF382), mRNA.	493	Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AAATCCAATGGGTGTCCTCAG	0.443000												
GK	2710	broad.mit.edu	37	4	166200297	166200297	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:166200297G>A	uc003ird.3	-	0	879	c.501C>T	c.(499-501)gcC>gcT	p.A167A	KLHL2_uc003irb.3_Intron|KLHL2_uc011cjm.2_Intron|KLHL2_uc003irc.3_Intron|KLHL2_uc010ira.3_Intron	NM_000167	NP_000158	P32189	GLPK_HUMAN	Homo sapiens glycerol kinase (GK), transcript variant 2, mRNA.	167					glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity			central_nervous_system(1)|large_intestine(3)	4						TTTCTTCAACGGCCTTTTGAA	0.438000												
CPEB4	80315	broad.mit.edu	37	5	173317732	173317732	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:173317732G>A	uc003mcs.4	+	0	2402	c.996G>A	c.(994-996)tcG>tcA	p.S332S	CPEB4_uc010jju.2_Silent_p.S332S|CPEB4_uc010jjv.3_Silent_p.S332S|CPEB4_uc011dfg.2_Silent_p.S332S|CPEB4_uc003mcu.4_5'Flank	NM_030627	NP_085130	Q17RY0	CPEB4_HUMAN	Homo sapiens cytoplasmic polyadenylation element binding protein 4 (CPEB4), mRNA.	332							RNA binding|nucleotide binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			ACTCCATCTCGCCTTTGAAGA	0.537000												
RAB3GAP2	25782	broad.mit.edu	37	1	220345285	220345285	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:220345285C>T	uc010puk.1	-	22	2687	c.2523G>A	c.(2521-2523)gcG>gcA	p.A841A	RAB3GAP2_uc021pjf.1_Silent_p.A841A|RAB3GAP2_uc001hmf.2_Non-coding_Transcript|RAB3GAP2_uc001hmg.2_Silent_p.A421A	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN	Homo sapiens RAB3 GTPase activating protein subunit 2 (non-catalytic) (RAB3GAP2), mRNA.	841					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity	p.S840T(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		GCCCAACATGCGCAGACAACA	0.488000												
LHFPL5	222662	broad.mit.edu	37	6	35773525	35773525	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:35773525C>T	uc003olg.1	+	0	455	c.78C>T	c.(76-78)ggC>ggT	p.G26G		NM_182548	NP_872354	Q8TAF8	TMHS_HUMAN	Homo sapiens lipoma HMGIC fusion partner-like 5 (LHFPL5), mRNA.	26						integral to membrane				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						GAGCCGTGGGCGTGATGTGGG	0.617000												
ATAD2B	54454	broad.mit.edu	37	2	24033274	24033274	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:24033274T>C	uc002rek.4	-	17	2662	c.2366A>G	c.(2365-2367)cAc>cGc	p.H789R	ATAD2B_uc002rei.4_Missense_Mutation_p.H789R|ATAD2B_uc010yki.2_Non-coding_Transcript|ATAD2B_uc002rej.4_5'UTR	NM_017552	NP_060022	Q9ULI0	ATD2B_HUMAN	Homo sapiens ATPase family, AAA domain containing 2B (ATAD2B), transcript variant 1, mRNA.	789							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCTAGAGTGTGCAAAAGTGC	0.473000												
CCKBR	887	broad.mit.edu	37	11	6291549	6291549	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:6291549C>T	uc001mcp.3	+	2	890	c.635C>T	c.(634-636)gCg>gTg	p.A212V	CCKBR_uc001mcq.3_Missense_Mutation_p.A140V|CCKBR_uc001mcr.3_Missense_Mutation_p.A212V|CCKBR_uc001mcs.3_Missense_Mutation_p.A212V|CCKBR_uc001mct.1_5'Flank	NM_176875	NP_795344	P32239	GASR_HUMAN	Homo sapiens cholecystokinin B receptor (CCKBR), mRNA.	212					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	TGGCCCAGTGCGCGGGTCCGC	0.582000												
ZNF496	84838	broad.mit.edu	37	1	247492570	247492570	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:247492570G>A	uc009xgv.3	-	0	348	c.311C>T	c.(310-312)gCg>gTg	p.A104V	ZNF496_uc001ico.3_Missense_Mutation_p.A104V|ZNF496_uc010pyv.1_Missense_Mutation_p.A104V	NM_032752	NP_116141	Q96IT1	ZN496_HUMAN	Homo sapiens zinc finger protein 496 (ZNF496), mRNA.	104	SCAN box.				positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			AGGCTCCTGCGCCCGCACCCA	0.677000												
COPB2	9276	broad.mit.edu	37	3	139080062	139080062	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:139080062G>A	uc003etf.4	-	16	2201	c.2071C>T	c.(2071-2073)Cat>Tat	p.H691Y	COPB2_uc011bmv.2_Missense_Mutation_p.H662Y|COPB2_uc010hui.3_Missense_Mutation_p.H662Y	NM_004766	NP_004757	P35606	COPB2_HUMAN	Homo sapiens coatomer protein complex, subunit beta 2 (beta prime) (COPB2), transcript variant 1, mRNA.	691					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						TGTGCATGATGCAGGCACTCC	0.478000												
MYH7	4625	broad.mit.edu	37	14	23886441	23886441	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:23886441C>A	uc001wjx.3	-	31	4546	c.4440G>T	c.(4438-4440)gaG>gaT	p.E1480D		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	1480					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GTTTGAAGAGCTCTGTGCTGA	0.587000												
CSMD3	114788	broad.mit.edu	37	8	113293565	113293565	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:113293565T>A	uc003ynu.3	-	58	9505	c.9346A>T	c.(9346-9348)Aac>Tac	p.N3116Y	CSMD3_uc003yns.3_Missense_Mutation_p.N2318Y|CSMD3_uc003ynt.3_Missense_Mutation_p.N3076Y|CSMD3_uc011lhx.2_Missense_Mutation_p.N2947Y	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	3116	Sushi 23.					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						GTTCCTGGGTTACCACACTGC	0.368000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)		
CDC7	8317	broad.mit.edu	37	1	91977470	91977470	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:91977470C>T	uc001doe.3	+	5	727	c.562C>T	c.(562-564)Cgc>Tgc	p.R188C	CDC7_uc001dof.3_Missense_Mutation_p.R188C|CDC7_uc010osw.2_Missense_Mutation_p.R160C|CDC7_uc009wdc.3_Missense_Mutation_p.R188C|CDC7_uc009wdd.3_5'Flank	NM_003503	NP_003494	O00311	CDC7_HUMAN	Homo sapiens cell division cycle 7 homolog (S. cerevisiae) (CDC7), transcript variant 1, mRNA.	188	Protein kinase.				DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|cell cycle checkpoint|cell division|positive regulation of cell proliferation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		ATATAATAGGCGCCTGAAAAA	0.294000												
TRAK1	22906	broad.mit.edu	37	3	42235319	42235319	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:42235319G>A	uc003cky.3	+	8	1120	c.904G>A	c.(904-906)Gca>Aca	p.A302T	TRAK1_uc011azh.2_Missense_Mutation_p.A302T|TRAK1_uc011azi.2_Missense_Mutation_p.A302T|TRAK1_uc003ckz.4_Missense_Mutation_p.A228T|TRAK1_uc011azj.2_Missense_Mutation_p.A228T|TRAK1_uc003cla.3_Missense_Mutation_p.A244T	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN	Homo sapiens trafficking protein, kinesin binding 1 (TRAK1), transcript variant 1, mRNA.	302	HAP1 N-terminal.				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						GCTTTAGTGCGCAGTGGAAAA	0.463000												
NPTX2	4885	broad.mit.edu	37	7	98254261	98254261	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:98254261C>T	uc003upl.2	+	2	848	c.671C>T	c.(670-672)gCg>gTg	p.A224V		NM_002523	NP_002514	P47972	NPTX2_HUMAN	Homo sapiens neuronal pentraxin II (NPTX2), mRNA.	224					synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			TCACCAGATGCGTTCAAGGTG	0.602000												
CXCR4	7852	broad.mit.edu	37	2	136872597	136872597	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:136872597G>T	uc002tuz.3	-	1	996	c.901C>A	c.(901-903)Ctc>Atc	p.L301I	CXCR4_uc002tuy.3_Missense_Mutation_p.L305I|CXCR4_uc010fnk.3_Missense_Mutation_p.L286I	NM_003467	NP_003458	P61073	CXCR4_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 4 (CXCR4), transcript variant 2, mRNA.	301					activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	C-X-C chemokine receptor activity|actin binding|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)	AAAGCATAGAGGATGGGGTTC	0.507000												
PLAG1	5324	broad.mit.edu	37	8	57078977	57078977	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:57078977C>T	uc003xsq.4	-	2	1779	c.1328G>A	c.(1327-1329)aGc>aAc	p.S443N	PLAG1_uc003xsr.4_Missense_Mutation_p.S443N|PLAG1_uc010lyi.3_Missense_Mutation_p.S443N|PLAG1_uc010lyj.3_Missense_Mutation_p.S361N|PLAG1_uc022aur.1_Missense_Mutation_p.S361N	NM_001114635	NP_001108107	Q6DJT9	PLAG1_HUMAN	Homo sapiens pleiomorphic adenoma gene 1 (PLAG1), transcript variant 3, mRNA.	443	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Massively activates transcription.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			CTGGGAATAGCTCATTCCAAG	0.463000			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma							
ZNF615	284370	broad.mit.edu	37	19	52496650	52496650	+	Missense_Mutation	SNP	C	C	T	rs147205148		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:52496650C>T	uc002pyf.2	-	6	2029	c.1712G>A	c.(1711-1713)cGc>cAc	p.R571H	AK128361_uc021uys.1_5'Flank|ZNF615_uc002pye.2_Missense_Mutation_p.R560H|ZNF615_uc002pyh.2_Missense_Mutation_p.R571H|ZNF615_uc010epi.2_Missense_Mutation_p.R567H|ZNF615_uc002pyg.2_Missense_Mutation_p.R452H|ZNF615_uc010ydg.2_Missense_Mutation_p.R565H	NM_001199324	NP_001186253	Q8N8J6	ZN615_HUMAN	Homo sapiens zinc finger protein 615 (ZNF615), transcript variant 1, mRNA.	560					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TGTATGAGTGCGCCGATGTAC	0.448000												
ALG14	199857	broad.mit.edu	37	1	95448750	95448750	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:95448750A>G	uc001dra.2	-	3	586	c.533T>C	c.(532-534)gTa>gCa	p.V178A		NM_144988	NP_659425	Q96F25	ALG14_HUMAN	Homo sapiens asparagine-linked glycosylation 14 homolog (S. cerevisiae) (ALG14), mRNA.	178					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	6		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.0615)|Epithelial(280;0.139)		TAACGTTTCTACACGGCAGAT	0.433000												
TRPM6	140803	broad.mit.edu	37	9	77415329	77415329	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:77415329C>T	uc004ajl.1	-	16	2317	c.2079G>A	c.(2077-2079)acG>acA	p.T693T	TRPM6_uc004ajk.1_Silent_p.T688T|TRPM6_uc022bib.1_Silent_p.T688T|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	693					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						ACGTCAACAGCGTCATGGCCA	0.502000												
SGCB	6443	broad.mit.edu	37	4	52895985	52895985	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:52895985G>A	uc003gzj.2	-	2	348	c.288C>T	c.(286-288)ggC>ggT	p.G96G	SGCB_uc011bzp.1_Silent_p.G26G	NM_000232	NP_000223	Q16585	SGCB_HUMAN	Homo sapiens sarcoglycan, beta (43kDa dystrophin-associated glycoprotein) (SGCB), mRNA.	96					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(6)|prostate(1)	17			GBM - Glioblastoma multiforme(4;7.63e-12)|LUSC - Lung squamous cell carcinoma(32;0.00204)			TACTATCACAGCCATTTGGTC	0.418000												
TSPYL4	23270	broad.mit.edu	37	6	116574209	116574209	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:116574209G>A	uc003pwn.3	-	0	1053	c.963C>T	c.(961-963)ggC>ggT	p.G321G	DSE_uc011ebf.1_5'Flank|DSE_uc003pwo.1_5'Flank	NM_021648	NP_067680	Q9UJ04	TSYL4_HUMAN	Homo sapiens TSPY-like 4 (TSPYL4), mRNA.	321					nucleosome assembly	nucleus				endometrium(2)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(2)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.045)|OV - Ovarian serous cystadenocarcinoma(136;0.0666)|GBM - Glioblastoma multiforme(226;0.095)|Epithelial(106;0.125)		ACACCACCCGGCCAGAGGATC	0.537000												
LAMB4	22798	broad.mit.edu	37	7	107671311	107671311	+	Silent	SNP	G	G	A	rs138458523		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:107671311G>A	uc010ljo.1	-	31	5016	c.4932C>T	c.(4930-4932)caC>caT	p.H1644H	LAMB4_uc003vey.2_Silent_p.H1644H|LAMB4_uc010ljp.1_Silent_p.H613H	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	1644	Domain I.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CATTGACAGCGTGGTCTTGAT	0.522000												
MYH3	4621	broad.mit.edu	37	17	10532947	10532947	+	Silent	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:10532947G>T	uc002gmq.2	-	39	5851	c.5763C>A	c.(5761-5763)ctC>ctA	p.L1921L		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	1921					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TCTTAGCGCGGAGCTTGTTGA	0.557000												
SHROOM4	57477	broad.mit.edu	37	X	50339874	50339874	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:50339874C>T	uc004dpe.2	-	8	4329	c.4303G>A	c.(4303-4305)Gtg>Atg	p.V1435M	SHROOM4_uc004dpd.3_Non-coding_Transcript	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	Homo sapiens shroom family member 4 (SHROOM4), transcript variant 1, mRNA.	1435	ASD2.				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					ATGCCAAACACCAACTTCTCC	0.547000												
LPA	4018	broad.mit.edu	37	6	161006078	161006078	+	Splice_Site	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:161006078G>A	uc003qtl.3	-	27	4409	c.4289_splice	c.e27+1	p.A1430_splice		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	3938	Kringle 13.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	p.A1430V(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	ATAGACATACGCATTTGGATA	0.433000												
LYZL1	84569	broad.mit.edu	37	10	29580930	29580930	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:29580930G>A	uc001iul.3	+	1	329	c.272G>A	c.(271-273)gGa>gAa	p.G91E		NM_032517	NP_115906	Q6UWQ5	LYZL1_HUMAN	Homo sapiens lysozyme-like 1 (LYZL1), mRNA.	45					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			central_nervous_system(1)|cervix(2)|large_intestine(2)|lung(5)|skin(1)	11		Breast(68;0.203)				TTCAGCCTTGGAAACTGTGAG	0.522000												
KRT71	112802	broad.mit.edu	37	12	52940272	52940272	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:52940272C>T	uc001sao.3	-	6	1193	c.1123G>A	c.(1123-1125)Gcc>Acc	p.A375T		NM_033448	NP_258259	Q3SY84	K2C71_HUMAN	Homo sapiens keratin 71 (KRT71), mRNA.	375	Coil 2.|Rod.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		TCAGCGATGGCTGTCTCCAGG	0.587000												
SPAM1	6677	broad.mit.edu	37	7	123593822	123593822	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:123593822G>T	uc003vle.3	+	2	637	c.198G>T	c.(196-198)gaG>gaT	p.E66D	SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vld.3_Missense_Mutation_p.E66D|SPAM1_uc022aks.1_Missense_Mutation_p.E66D|SPAM1_uc003vlf.4_Missense_Mutation_p.E66D|SPAM1_uc010lku.3_Missense_Mutation_p.E66D	NM_003117	NP_003108	P38567	HYALP_HUMAN	Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA.	66					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	AATTTGATGAGCCACTAGATA	0.443000												
SKP2	6502	broad.mit.edu	37	5	36168477	36168477	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:36168477G>A	uc003jkc.2	+	4	819	c.599G>A	c.(598-600)gGc>gAc	p.G200D	SKP2_uc003jkd.3_Missense_Mutation_p.G200D|SKP2_uc011cou.2_Intron	NM_005983	NP_005974	Q13309	SKP2_HUMAN	Homo sapiens S-phase kinase-associated protein 2 (p45) (SKP2), transcript variant 1, mRNA.	200					G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation	SCF ubiquitin ligase complex|nucleoplasm	protein binding	p.G200D(2)		breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACCCTCCACGGCATACTGTCT	0.507000												
KIF15	56992	broad.mit.edu	37	3	44846554	44846554	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:44846554C>T	uc003cnx.4	+	14	1872	c.1723C>T	c.(1723-1725)Cca>Tca	p.P575S	KIF15_uc010hiq.3_Missense_Mutation_p.P478S|KIF15_uc003cny.1_Missense_Mutation_p.P210S	NM_020242	NP_064627	Q9NS87	KIF15_HUMAN	Homo sapiens kinesin family member 15 (KIF15), mRNA.	575					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity	p.E574Q(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		TCAGAAAGAGCCATGTTTGTT	0.348000												
FAM70A	55026	broad.mit.edu	37	X	119419030	119419030	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:119419030C>T	uc004eso.4	-	6	763	c.536G>A	c.(535-537)cGc>cAc	p.R179H	FAM70A_uc004esp.4_Missense_Mutation_p.R155H|FAM70A_uc010nqo.3_Intron	NM_017938	NP_060408	Q5JRV8	FA70A_HUMAN	Homo sapiens family with sequence similarity 70, member A (FAM70A), transcript variant 1, mRNA.	179						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(7)|lung(4)|prostate(2)	19						GCCCCGGATGCGAGGTGTGCA	0.532000												
FMO2	2327	broad.mit.edu	37	1	171178010	171178010	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:171178010C>T	uc001ghk.1	+	8	1451	c.1334C>T	c.(1333-1335)gCg>gTg	p.A445V	FMO2_uc010pmd.1_Missense_Mutation_p.A225V	NM_001460	NP_001451	Q99518	FMO2_HUMAN	Homo sapiens flavin containing monooxygenase 2 (non-functional) (FMO2), mRNA.	445					NADPH oxidation|drug metabolic process|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	p.A445V(2)		endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GAGATAGGTGCGAAGCCAGAT	0.473000												
ITPR3	3710	broad.mit.edu	37	6	33638955	33638955	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:33638955C>T	uc021ywr.1	+	20	2824	c.2600C>T	c.(2599-2601)gCg>gTg	p.A867V		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA.	867					G-protein coupled receptor protein signaling pathway|activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						GTCAGCCTGGCGCACAATCTC	0.682000												
AVPR1A	552	broad.mit.edu	37	12	63544099	63544099	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:63544099G>A	uc001sro.1	-	0	2492	c.518C>T	c.(517-519)gCc>gTc	p.A173V		NM_000706	NP_000697	P37288	V1AR_HUMAN	Homo sapiens arginine vasopressin receptor 1A (AVPR1A), mRNA.	173					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	CACCCAGGCGGCCGCGATCAT	0.637000												
SIPA1L1	26037	broad.mit.edu	37	14	72190523	72190523	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:72190523G>T	uc001xms.3	+	15	4792	c.4431G>T	c.(4429-4431)caG>caT	p.Q1477H	SIPA1L1_uc001xmt.3_Missense_Mutation_p.Q1456H|SIPA1L1_uc001xmu.3_Missense_Mutation_p.Q1456H|SIPA1L1_uc001xmv.3_Missense_Mutation_p.Q1477H|SIPA1L1_uc010ttm.2_Missense_Mutation_p.Q931H	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	1477	Ser-rich.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ACCCTCGCCAGGGCGCTACTA	0.507000												
ZNF608	57507	broad.mit.edu	37	5	123984239	123984239	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:123984239C>T	uc003ktq.1	-	3	2021	c.1838G>A	c.(1837-1839)aGc>aAc	p.S613N	ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Missense_Mutation_p.S613N|ZNF608_uc003ktt.1_Missense_Mutation_p.S613N	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	Homo sapiens zinc finger protein 608 (ZNF608), mRNA.	613						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TACACTTGTGCTTGGCTCACT	0.522000												
MET	4233	broad.mit.edu	37	7	116340317	116340317	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:116340317T>A	uc003vij.3	+	1	1366	c.1179T>A	c.(1177-1179)aaT>aaA	p.N393K	MET_uc022akk.1_Missense_Mutation_p.N393K|MET_uc010lkh.3_Missense_Mutation_p.N393K|MET_uc011knc.1_Missense_Mutation_p.N393K|MET_uc011knd.2_Missense_Mutation_p.N393K|MET_uc011knf.2_Missense_Mutation_p.N393K|MET_uc011kne.2_Missense_Mutation_p.N393K|MET_uc011kng.1_Missense_Mutation_p.N393K|MET_uc011knh.1_Missense_Mutation_p.N393K|MET_uc011kni.2_Missense_Mutation_p.N393K|MET_uc003vii.1_Missense_Mutation_p.N412K|MET_uc010lkg.3_Missense_Mutation_p.N393K|MET_uc011kmz.1_Missense_Mutation_p.N393K|MET_uc011kna.1_Missense_Mutation_p.N393K|MET_uc011knb.1_Missense_Mutation_p.N393K	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	393	Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			ACGGACCCAATCATGAGCACT	0.378000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)			
CARD11	84433	broad.mit.edu	37	7	2963993	2963993	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:2963993C>T	uc003smv.3	-	14	2148	c.1814G>A	c.(1813-1815)aGt>aAt	p.S605N		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	605					T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GCGTTCGTGACTGTCATCTGC	0.657000			Mis		DLBCL							
COL14A1	7373	broad.mit.edu	37	8	121259909	121259909	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:121259909G>A	uc003yox.3	+	20	2802	c.2537G>A	c.(2536-2538)cGc>cAc	p.R846H	COL14A1_uc003yoy.3_Missense_Mutation_p.R524H	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	846	Fibronectin type-III 7.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	p.R846S(1)		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)			AACCGGTTGCGCATTACGTGG	0.458000												
OR10G8	219869	broad.mit.edu	37	11	123900389	123900389	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:123900389G>A	uc001pzp.1	+	0	60	c.60G>A	c.(58-60)gcG>gcA	p.A20A		NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 8 (OR10G8), mRNA.	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		ATGCCCCAGCGCTGGACGCCC	0.572000												
CPD	1362	broad.mit.edu	37	17	28754503	28754503	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:28754503G>A	uc002hfb.2	+	6	2001	c.1944G>A	c.(1942-1944)acG>acA	p.T648T	CPD_uc010wbo.2_Silent_p.T401T|CPD_uc010wbp.2_Non-coding_Transcript	NM_001304	NP_001295	O75976	CBPD_HUMAN	Homo sapiens carboxypeptidase D (CPD), transcript variant 1, mRNA.	648	Carboxypeptidase-like 2.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						CAGATCCTACGCAACCAGAAA	0.398000												
DNMT1	1786	broad.mit.edu	37	19	10252856	10252856	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:10252856C>T	uc002mng.3	-	28	3289	c.3109G>A	c.(3109-3111)Gca>Aca	p.A1037T	DNMT1_uc002mnf.3_5'UTR|DNMT1_uc010xlc.2_Missense_Mutation_p.A1053T|DNMT1_uc002mnh.3_Missense_Mutation_p.A932T|DNMT1_uc010xld.2_Missense_Mutation_p.A1037T	NM_001379	NP_001370	P26358	DNMT1_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 1 (DNMT1), transcript variant 2, mRNA.	1037	BAH 2.				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	TTGATGTCTGCGTGGTAGCTC	0.602000												
WWP2	11060	broad.mit.edu	37	16	69874131	69874131	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:69874131T>G	uc002exu.1	+	5	532	c.443T>G	c.(442-444)cTg>cGg	p.L148R	WWP2_uc002ext.3_Missense_Mutation_p.L148R|WWP2_uc002exv.1_Missense_Mutation_p.L148R|WWP2_uc010vlm.1_Missense_Mutation_p.L32R	NM_007014	NP_008945	O00308	WWP2_HUMAN	Homo sapiens WW domain containing E3 ubiquitin protein ligase 2 (WWP2), transcript variant 1, mRNA.	148					entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity	p.L148L(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ACTGTTGATCTGGGAAATGTG	0.612000												
CPSF3	51692	broad.mit.edu	37	2	9572738	9572738	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:9572738C>T	uc002qzo.1	+	4	475	c.440C>T	c.(439-441)gCg>gTg	p.A147V	CPSF3_uc010ewx.1_Missense_Mutation_p.A147V|CPSF3_uc002qzp.1_Missense_Mutation_p.A110V	NM_016207	NP_057291	Q9UKF6	CPSF3_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 3, 73kDa (CPSF3), mRNA.	147					histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex	5'-3' exonuclease activity|RNA binding|endoribonuclease activity|metal ion binding|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		AAGGAAGTTGCGGGAATCAAG	0.463000												
LMO1	4004	broad.mit.edu	37	11	8248580	8248580	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:8248580G>A	uc001mgg.1	-	2	804	c.307C>T	c.(307-309)Cgg>Tgg	p.R103W	LMO1_uc009yfo.1_Non-coding_Transcript|LMO1_uc001mgh.1_Missense_Mutation_p.R102W	NM_002315	NP_002306	P25800	RBTN1_HUMAN	Homo sapiens LIM domain only 1 (rhombotin 1) (LMO1), mRNA.	103	LIM zinc-binding 2.				cell proliferation|multicellular organismal development|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|skin(1)	5				Epithelial(150;1.59e-07)|BRCA - Breast invasive adenocarcinoma(625;0.203)		TCCCGGGCCCGCATCACCATC	0.632000			"""T, A"""	TRD@	"""T-ALL, neuroblastoma"""	neuroblastoma						
EGR4	1961	broad.mit.edu	37	2	73519457	73519457	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:73519457C>T	uc010yrj.2	-	1	973	c.898G>A	c.(898-900)Gct>Act	p.A300T	EGR4_uc010yrk.1_Missense_Mutation_p.A299T	NM_001965	NP_001956	B7ZKU3	B7ZKU3_HUMAN	Homo sapiens early growth response 4 (EGR4), mRNA.	196						intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GCAGAGACAGCGTCCAGCGCT	0.711000												
NEFM	4741	broad.mit.edu	37	8	24771747	24771747	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:24771747C>T	uc003xed.4	+	0	474	c.441C>T	c.(439-441)ggC>ggT	p.G147G	NEFM_uc011lac.1_Silent_p.G147G|NEFM_uc010lue.3_5'Flank|AK308605_uc010luc.2_3'UTR	NM_005382	NP_005373	P07197	NFM_HUMAN	Homo sapiens neurofilament, medium polypeptide (NEFM), transcript variant 1, mRNA.	147	Linker 1.|Rod.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CCCAGCTGGGCGACGCGTACG	0.632000												
TUBB3	10381	broad.mit.edu	37	16	90001913	90001913	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:90001913G>A	uc002fpf.2	+	4	2503	c.2095G>A	c.(2095-2097)Gcc>Acc	p.A699T	TUBB3_uc010ciz.1_Missense_Mutation_p.A280T|TUBB3_uc002fph.2_Missense_Mutation_p.A352T|TUBB3_uc002fpj.1_Missense_Mutation_p.A280T|TUBB3_uc002fpk.1_Missense_Mutation_p.A206T	NM_006086	NP_006077	Q13509	TBB3_HUMAN	Homo sapiens tubulin, beta 3 class III (TUBB3), transcript variant 1, mRNA.	352					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		CGTGAAGGTGGCCGTGTGTGA	0.602000												
TMEM202	338949	broad.mit.edu	37	15	72691176	72691176	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:72691176C>T	uc002auq.3	+	1	264	c.264C>T	c.(262-264)ggC>ggT	p.G88G	TMEM202_uc002aur.3_Intron	NM_001080462	NP_001073931	A6NGA9	TM202_HUMAN	Homo sapiens transmembrane protein 202 (TMEM202), mRNA.	88						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						TCAAGAATGGCCTTGAGCTCT	0.532000												
HOXD10	3236	broad.mit.edu	37	2	176982113	176982113	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:176982113C>T	uc002ukj.3	+	0	622	c.552C>T	c.(550-552)ggC>ggT	p.G184G		NM_002148	NP_002139	P28358	HXD10_HUMAN	Homo sapiens homeobox D10 (HOXD10), mRNA.	184						nucleus	sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		ACCCTCGTGGCGCGGCCAAGC	0.587000												
NUDCD3	23386	broad.mit.edu	37	7	44432048	44432048	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:44432048C>T	uc003tkz.3	-	4	1009	c.823G>A	c.(823-825)Gcc>Acc	p.A275T	NUDCD3_uc010kye.3_Non-coding_Transcript	NM_015332	NP_056147	Q8IVD9	NUDC3_HUMAN	Homo sapiens NudC domain containing 3 (NUDCD3), mRNA.	275	CS.									endometrium(2)|large_intestine(1)|lung(3)|skin(1)	7						TCCAGGATGGCGTTCCACCAA	0.587000												
ZNF496	84838	broad.mit.edu	37	1	247492680	247492680	+	Silent	SNP	G	G	A	rs140768491		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:247492680G>A	uc009xgv.3	-	0	238	c.201C>T	c.(199-201)tgC>tgT	p.C67C	ZNF496_uc001ico.3_Silent_p.C67C|ZNF496_uc010pyv.1_Silent_p.C67C	NM_032752	NP_116141	Q96IT1	ZN496_HUMAN	Homo sapiens zinc finger protein 496 (ZNF496), mRNA.	67	SCAN box.				positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			GCCAGCCCCCGCACAGGTCCC	0.697000												
KSR1	8844	broad.mit.edu	37	17	25934953	25934953	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:25934953C>T	uc010crg.3	+	15	2105	c.1660C>T	c.(1660-1662)Cgg>Tgg	p.R554W	KSR1_uc002gzm.3_Missense_Mutation_p.R334W|KSR1_uc002gzn.3_5'Flank	NM_014238	NP_055053	Q8IVT5	KSR1_HUMAN	Homo sapiens kinase suppressor of ras 1 (KSR1), mRNA.	690					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CTGCAAGGGGCGGACGTTGCA	0.617000												
PCDHAC2	56134	broad.mit.edu	37	5	140256328	140256328	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:140256328T>C	uc003lic.2	+	0	1398	c.1271T>C	c.(1270-1272)gTg>gCg	p.V424A	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Missense_Mutation_p.V424A	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	438	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TATGAGCTGGTGGTGACTGCG	0.632000												
TCERG1L	256536	broad.mit.edu	37	10	132944908	132944908	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:132944908C>T	uc001lkp.3	-	6	1136	c.1050G>A	c.(1048-1050)acG>acA	p.T350T	TCERG1L_uc009yax.1_Non-coding_Transcript	NM_174937	NP_777597	Q5VWI1	TCRGL_HUMAN	Homo sapiens transcription elongation regulator 1-like (TCERG1L), mRNA.	350	WW 2.									cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		GGTCATCGCCCGTCCAGACCA	0.502000												
DIS3L2	129563	broad.mit.edu	37	2	233128133	233128133	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:233128133G>A	uc010fxz.3	+	12	1918	c.1642G>A	c.(1642-1644)Gca>Aca	p.A548T	DIS3L2_uc002vsm.4_Non-coding_Transcript|DIS3L2_uc002vso.3_Non-coding_Transcript	NM_152383	NP_689596	Q8IYB7	DI3L2_HUMAN	Homo sapiens DIS3 mitotic control homolog (S. cerevisiae)-like 2 (DIS3L2), mRNA.	548							RNA binding|exonuclease activity|ribonuclease activity	p.A548T(2)|p.G547G(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		TGTGGACGGCGCACTTCGTTT	0.547000												
SNRK	54861	broad.mit.edu	37	3	43389129	43389129	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:43389129T>C	uc003cms.4	+	6	1710	c.1378T>C	c.(1378-1380)Tcc>Ccc	p.S460P	SNRK_uc003cmt.4_Missense_Mutation_p.S460P|SNRK_uc010hik.3_Missense_Mutation_p.S460P|SNRK_uc011azr.2_Missense_Mutation_p.S254P	NM_017719	NP_060189	Q9NRH2	SNRK_HUMAN	Homo sapiens SNF related kinase (SNRK), transcript variant 1, mRNA.	460					myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		GAAACCCATGTCCCTCTCAAC	0.547000												
PLEKHA7	144100	broad.mit.edu	37	11	16837748	16837748	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:16837748C>T	uc010rcu.1	-	11	1945	c.1930G>A	c.(1930-1932)Gct>Act	p.A644T	PLEKHA7_uc001mmo.3_Missense_Mutation_p.A644T|PLEKHA7_uc010rcv.2_Missense_Mutation_p.A218T|PLEKHA7_uc001mmn.3_Missense_Mutation_p.A352T	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 7 (PLEKHA7), mRNA.	644	Interaction with CTNND1.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						AAACTGGGAGCGCTGACGGTG	0.502000												
DNMT3B	1789	broad.mit.edu	37	20	31383281	31383281	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:31383281G>A	uc002wyc.3	+	10	1514	c.1193G>A	c.(1192-1194)cGc>cAc	p.R398H	DNMT3B_uc010ztx.1_Non-coding_Transcript|DNMT3B_uc010zty.1_Non-coding_Transcript|DNMT3B_uc002wyd.3_Missense_Mutation_p.R378H|DNMT3B_uc002wye.3_Missense_Mutation_p.R378H|DNMT3B_uc010ztz.2_Missense_Mutation_p.R336H|DNMT3B_uc010zua.2_Missense_Mutation_p.R302H|DNMT3B_uc010gee.3_Non-coding_Transcript|DNMT3B_uc010gef.3_Non-coding_Transcript|DNMT3B_uc002wyf.3_Missense_Mutation_p.R390H|DNMT3B_uc002wyg.3_Missense_Mutation_p.R97H	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3 beta (DNMT3B), transcript variant 1, mRNA.	398					negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCACCCAAGCGCCTCAAGACA	0.537000												
MTTP	4547	broad.mit.edu	37	4	100529984	100529984	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:100529984G>A	uc011cej.2	+	11	1713	c.1700G>A	c.(1699-1701)cGc>cAc	p.R567H	MTTP_uc003hvc.4_Missense_Mutation_p.R540H	NM_000253	NP_000244	P55157	MTP_HUMAN	Homo sapiens microsomal triglyceride transfer protein (MTTP), mRNA.	540	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	AAGACTGTGCGCACTGCTGCA	0.393000												
COL4A1	1282	broad.mit.edu	37	13	110839556	110839556	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:110839556C>T	uc001vqw.4	-	24	1779	c.1657G>A	c.(1657-1659)Ggc>Agc	p.G553S		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	553	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCTGTCATGCCGGGCTGTCCT	0.582000												
IQUB	154865	broad.mit.edu	37	7	123109382	123109382	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:123109382C>T	uc003vkn.3	-	8	2044	c.1467G>A	c.(1465-1467)acG>acA	p.T489T	IQUB_uc003vko.3_Silent_p.T489T|IQUB_uc010lkt.3_Non-coding_Transcript|IQUB_uc003vkp.1_Silent_p.T489T	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN	Homo sapiens IQ motif and ubiquitin domain containing (IQUB), mRNA.	489										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TGGTGAACTGCGTATCCATCT	0.348000												
CDYL	9425	broad.mit.edu	37	6	4935874	4935874	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:4935874C>T	uc003mwi.3	+	4	1110	c.979C>T	c.(979-981)Cga>Tga	p.R327*	CDYL_uc003mwj.3_Nonsense_Mutation_p.R273*|CDYL_uc003mwk.3_Nonsense_Mutation_p.R38*|CDYL_uc011dhx.2_Nonsense_Mutation_p.R141*|CDYL_uc011dhy.2_Nonsense_Mutation_p.R141*	NM_001143971	NP_001137443	Q9Y232	CDYL1_HUMAN	Homo sapiens chromodomain protein, Y-like (CDYL), transcript variant 5, mRNA.	327					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity			breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		TTTTGACAAGCGATTGCGTTT	0.453000												
DST	667	broad.mit.edu	37	6	56499320	56499320	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:56499320A>G	uc003pcy.4	-	11	1931	c.1823T>C	c.(1822-1824)gTc>gCc	p.V608A	DST_uc021zay.1_Missense_Mutation_p.V974A|DST_uc021zax.1_Missense_Mutation_p.V608A|DST_uc003pdc.4_Missense_Mutation_p.V608A|DST_uc003pdd.4_Missense_Mutation_p.V608A	NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	934					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CACAGATGGGACCATAGCCTC	0.428000												
TEP1	7011	broad.mit.edu	37	14	20853143	20853143	+	Splice_Site	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:20853143C>T	uc001vxe.3	-	21	3147	c.3107_splice	c.e21+1	p.S1036_splice	TEP1_uc010ahk.3_Splice_Site_p.S386_splice|TEP1_uc010tlf.1_Splice_Site|TEP1_uc010tlg.1_Splice_Site_p.S928_splice|TEP1_uc010tlh.1_5'Flank	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	1036					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		ACAGACAGTACCTGAGGAAGC	0.552000												
QRICH1	54870	broad.mit.edu	37	3	49095173	49095173	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:49095173G>A	uc010hkq.3	-	3	756	c.460C>T	c.(460-462)Ccg>Tcg	p.P154S	QRICH1_uc003cvu.3_Missense_Mutation_p.P154S|QRICH1_uc003cvv.3_Missense_Mutation_p.P154S|QRICH1_uc021wxr.1_Missense_Mutation_p.P91S	NM_198880	NP_942581	Q2TAL8	QRIC1_HUMAN	Homo sapiens glutamine-rich 1 (QRICH1), transcript variant 2, mRNA.	154	Gln-rich.									breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		TGCAGAGACGGGGTCTGAATG	0.617000												
SDS	10993	broad.mit.edu	37	12	113830802	113830802	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:113830802C>T	uc001tvg.3	-	7	1053	c.931G>A	c.(931-933)Gcc>Acc	p.A311T		NM_006843	NP_006834	P20132	SDHL_HUMAN	Homo sapiens serine dehydratase (SDS), mRNA.	311					L-serine catabolic process|gluconeogenesis|pyruvate biosynthetic process	cytoplasm	L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|protein homodimerization activity|pyridoxal phosphate binding			large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(1)	11					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	CGCAGCTGGGCCAGGCTGATG	0.607000												
ZSCAN20	7579	broad.mit.edu	37	1	33944899	33944899	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:33944899G>A	uc001bxj.4	+	1	177	c.10G>A	c.(10-12)Gcc>Acc	p.A4T	ZSCAN20_uc001bxk.2_Missense_Mutation_p.A4T|ZSCAN20_uc009vui.3_Missense_Mutation_p.A4T	NM_145238	NP_660281	P17040	ZSC20_HUMAN	Homo sapiens zinc finger and SCAN domain containing 20 (ZSCAN20), mRNA.	4					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AATGGCTATGGCCCTGGAATT	0.507000												
NUP188	23511	broad.mit.edu	37	9	131760467	131760467	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:131760467G>A	uc004bws.1	+	30	3411	c.3389G>A	c.(3388-3390)cGc>cAc	p.R1130H	NUP188_uc004bwu.3_Missense_Mutation_p.R473H	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	Homo sapiens nucleoporin 188kDa (NUP188), mRNA.	1130					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						GTGGTGCGTCGCCAGCTCTTT	0.438000												
SLC39A9	55334	broad.mit.edu	37	14	69925158	69925158	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:69925158G>A	uc001xle.3	+	6	1474	c.772G>A	c.(772-774)Gcc>Acc	p.A258T	SLC39A9_uc021rvg.1_Missense_Mutation_p.A140T|SLC39A9_uc021rvh.1_Missense_Mutation_p.A140T|SLC39A9_uc001xlf.4_Intron|SLC39A9_uc010aqx.3_Missense_Mutation_p.A235T|SLC39A9_uc001xlg.4_Non-coding_Transcript|SLC39A9_uc021rvi.1_5'Flank	NM_018375	NP_060845	Q9NUM3	S39A9_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 9 (SLC39A9), transcript variant 1, mRNA.	258					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|skin(1)|stomach(1)	14				all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)		TCTTTATGTTGCCACAGTACA	0.567000												
CCNE1	898	broad.mit.edu	37	19	30313453	30313453	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:30313453C>T	uc002nsn.3	+	10	1236	c.1053C>T	c.(1051-1053)ggC>ggT	p.G351G	CCNE1_uc002nso.3_Silent_p.G336G	NM_001238	NP_001229	P24864	CCNE1_HUMAN	Homo sapiens cyclin E1 (CCNE1), mRNA.	351					androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	androgen receptor binding|protein kinase binding|transcription coactivator activity	p.R350S(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1)	20	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)			ACTTCAGGGGCGTCGCTGATG	0.493000			A		serous ovarian							
EPHX1	2052	broad.mit.edu	37	1	226016576	226016576	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:226016576G>A	uc001hpk.3	+	1	226	c.146G>A	c.(145-147)cGc>cAc	p.R49H	EPHX1_uc001hpl.3_Missense_Mutation_p.R49H	NM_001136018	NP_001129490	P07099	HYEP_HUMAN	Homo sapiens epoxide hydrolase 1, microsomal (xenobiotic) (EPHX1), transcript variant 2, mRNA.	49			R -> C (in allele EPHX1*2; dbSNP:rs2234697).		aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					GACAGCATCCGCCCTTTCAAG	0.612000												
IFI44	10561	broad.mit.edu	37	1	79128420	79128420	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:79128420C>A	uc001dip.4	+	7	1269	c.1145C>A	c.(1144-1146)gCt>gAt	p.A382D		NM_006417	NP_006408	Q8TCB0	IFI44_HUMAN	Homo sapiens interferon-induced protein 44 (IFI44), mRNA.	382					response to virus	cytoplasm				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						CTTGGATTTGCTCTTTCTGAC	0.358000												
THSD1	55901	broad.mit.edu	37	13	52960256	52960256	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:52960256G>A	uc001vgo.3	-	3	1632	c.1087C>T	c.(1087-1089)Cgt>Tgt	p.R363C	THSD1_uc001vgp.3_Intron|THSD1_uc010tgz.2_5'UTR	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	Homo sapiens thrombospondin, type I, domain containing 1 (THSD1), transcript variant 1, mRNA.	363	TSP type-1.					extracellular region|integral to membrane|intracellular membrane-bounded organelle				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		ACTCGGCGACGCTCTCTGACA	0.542000												
DLX2	1746	broad.mit.edu	37	2	172966308	172966308	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:172966308C>T	uc002uhn.3	-	1	679	c.467G>A	c.(466-468)cGc>cAc	p.R156H	DLX2_uc010zdx.1_Missense_Mutation_p.R156H	NM_004405	NP_004396	Q07687	DLX2_HUMAN	Homo sapiens distal-less homeobox 2 (DLX2), mRNA.	156						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.216)			GTAGATGGTGCGGGGTTTCCG	0.547000												
PSMF1	9491	broad.mit.edu	37	20	1145099	1145099	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:1145099C>T	uc002wel.4	+	6	911	c.743C>T	c.(742-744)cCc>cTc	p.P248L	PSMF1_uc010zpo.2_Missense_Mutation_p.P160L|PSMF1_uc010zpp.2_Missense_Mutation_p.P186L|PSMF1_uc002wen.4_Missense_Mutation_p.P248L|PSMF1_uc002wep.4_Missense_Mutation_p.P199L	NM_178578	NP_848693	Q92530	PSMF1_HUMAN	Homo sapiens proteasome (prosome, macropain) inhibitor subunit 1 (PI31) (PSMF1), transcript variant 2, mRNA.	248	Pro-rich.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	proteasome core complex	endopeptidase inhibitor activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						CCCTTTGGACCCATTGGGACC	0.577000												
GRIN3B	116444	broad.mit.edu	37	19	1005443	1005443	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:1005443T>A	uc002lqo.1	+	2	1943	c.1943T>A	c.(1942-1944)cTc>cAc	p.L648H		NM_138690	NP_619635	O60391	NMD3B_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3B (GRIN3B), mRNA.	648					ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	CTCATGAACCTCTGGGCCATC	0.632000												
GALNT1	2589	broad.mit.edu	37	18	33263470	33263470	+	Silent	SNP	G	G	A	rs144666262		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:33263470G>A	uc010dmu.3	+	4	650	c.597G>A	c.(595-597)gtG>gtA	p.V199V	GALNT1_uc002kyz.4_Silent_p.V139V|GALNT1_uc002kzb.3_Silent_p.V199V	NM_020474	NP_065207	Q10472	GALT1_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1) (GALNT1), mRNA.	199	Catalytic subdomain A.				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|extracellular region|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						GAGCTGCTGTGTCTAAAGGCC	0.428000												
NRG3	10718	broad.mit.edu	37	10	83635649	83635649	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:83635649C>T	uc021pvc.1	+	0	580	c.553C>T	c.(553-555)Cgg>Tgg	p.R185W	NRG3_uc010qlz.1_Missense_Mutation_p.R185W|NRG3_uc021pvb.1_Non-coding_Transcript|NRG3_uc001kco.2_Missense_Mutation_p.R185W|NRG3_uc001kcp.2_5'Flank|NRG3_uc001kcq.2_5'Flank|NRG3_uc021pvd.1_5'Flank|NRG3_uc021pve.1_5'Flank|NRG3_uc021pvf.1_5'Flank|NRG3_uc021pvg.1_5'Flank|NRG3_uc021pvh.1_5'Flank|NRG3_uc021pvi.1_5'Flank	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	Homo sapiens neuregulin 3 (NRG3), transcript variant 1, mRNA.	185	Ser/Thr-rich.				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	p.R185W(2)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		CACCACAGCACGGAACACTGC	0.706000												
LDHD	197257	broad.mit.edu	37	16	75149234	75149234	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:75149234G>A	uc002fdm.3	-	2	241	c.189C>T	c.(187-189)tgC>tgT	p.C63C	LDHD_uc002fdn.3_Silent_p.C63C	NM_153486	NP_705690	Q86WU2	LDHD_HUMAN	Homo sapiens lactate dehydrogenase D (LDHD), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	63	FAD-binding PCMH-type.						D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding			endometrium(1)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	16						CAGGAGGTTCGCACCTAGAAC	0.627000												
ODZ2	57451	broad.mit.edu	37	5	167673925	167673925	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:167673925C>T	uc010jjd.3	+	26	5954	c.5954C>T	c.(5953-5955)gCt>gTt	p.A1985V	ODZ2_uc003lzr.4_Missense_Mutation_p.A1755V|ODZ2_uc003lzt.4_Missense_Mutation_p.A1358V|ODZ2_uc010jje.3_Missense_Mutation_p.A1249V	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		GAAAGCAATGCTTCGGTCATC	0.547000												
C4orf6	10141	broad.mit.edu	37	4	5527158	5527158	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:5527158G>A	uc003gii.3	+	0	276	c.101G>A	c.(100-102)cGc>cAc	p.R34H		NM_005750	NP_005741	Q99440	CD006_HUMAN	Homo sapiens chromosome 4 open reading frame 6 (C4orf6), mRNA.	34					nervous system development					large_intestine(1)|prostate(1)	2						gaaggaacacgcaaaaatttt	0.363000												
TTN	7273	broad.mit.edu	37	2	179412259	179412259	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:179412259C>T	uc021vsy.1	-	287	86615	c.86390G>A	c.(86389-86391)cGc>cAc	p.R28797H	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R22492H|TTN_uc021vta.1_Missense_Mutation_p.R22425H|TTN_uc021vtb.1_Missense_Mutation_p.R22300H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	29724	Fibronectin type-III 110.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R22425H(1)|p.R28795H(1)|p.R22492H(1)|p.R22300H(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)			AATTTGAGTGCGCTTGACACT	0.408000												
AP1AR	55435	broad.mit.edu	37	4	113174397	113174397	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:113174397G>A	uc003iaj.4	+	1	470	c.117G>A	c.(115-117)gaG>gaA	p.E39E	AP1AR_uc010imm.1_Silent_p.E39E|AP1AR_uc003iak.4_Silent_p.E39E	NM_018569	NP_061039	Q63HQ0	AP1AR_HUMAN	Homo sapiens adaptor-related protein complex 1 associated regulatory protein (AP1AR), transcript variant 1, mRNA.	39					protein transport	Golgi apparatus|early endosome|late endosome|transport vesicle				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	9						CAAGAGGTGAGCACTTAACAA	0.333000												
UHMK1	127933	broad.mit.edu	37	1	162473601	162473601	+	Missense_Mutation	SNP	G	G	A	rs150990527		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:162473601G>A	uc001gcc.2	+	3	1007	c.811G>A	c.(811-813)Gca>Aca	p.A271T	UHMK1_uc001gcd.3_Missense_Mutation_p.A197T|UHMK1_uc009wuu.2_Missense_Mutation_p.A271T	NM_175866	NP_787062	Q8TAS1	UHMK1_HUMAN	Homo sapiens U2AF homology motif (UHM) kinase 1 (UHMK1), transcript variant 1, mRNA.	271	Protein kinase.				cell cycle arrest|neuron projection development|peptidyl-serine phosphorylation|positive regulation of translational initiation|protein autophosphorylation|regulation of protein export from nucleus	axon|dendrite cytoplasm|neuronal RNA granule|nucleus	RNA binding|protein binding|protein serine/threonine kinase activity|ribonucleoprotein binding			endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	11	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			GGTGAATGCCGCAATTCCAGC	0.373000												
EPHB3	2049	broad.mit.edu	37	3	184290699	184290699	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:184290699C>T	uc003foz.3	+	2	1028	c.591C>T	c.(589-591)ggC>ggT	p.G197G		NM_004443	NP_004434	P54753	EPHB3_HUMAN	Homo sapiens EPH receptor B3 (EPHB3), mRNA.	197						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)			AGGACCAGGGCGCCTGCATGT	0.637000												
XRN2	22803	broad.mit.edu	37	20	21309294	21309294	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:21309294A>G	uc002wsf.1	+	3	508	c.413A>G	c.(412-414)gAa>gGa	p.E138G	XRN2_uc002wsg.1_Missense_Mutation_p.E62G|XRN2_uc010zsk.1_Missense_Mutation_p.E84G	NM_012255	NP_036387	Q9H0D6	XRN2_HUMAN	Homo sapiens 5'-3' exoribonuclease 2 (XRN2), mRNA.	138					DNA catabolic process, exonucleolytic|RNA catabolic process|cell growth|mRNA processing|regulation of transcription, DNA-dependent|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						GTCAGGGAAGAAATATTGGCA	0.443000												
RNASEH2A	10535	broad.mit.edu	37	19	12924174	12924174	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:12924174T>C	uc002mvg.1	+	7	854	c.794T>C	c.(793-795)cTc>cCc	p.L265P		NM_006397	NP_006388	O75792	RNH2A_HUMAN	Homo sapiens ribonuclease H2, subunit A (RNASEH2A), mRNA.	265					DNA replication|RNA catabolic process	nucleus|ribonuclease H2 complex	RNA binding|metal ion binding|ribonuclease H activity			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	14						CAGGAGGGACTCAGGAAGATC	0.577000												
TRIM3	10612	broad.mit.edu	37	11	6472626	6472626	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:6472626G>A	uc001mdh.3	-	8	1972	c.1576C>T	c.(1576-1578)Cga>Tga	p.R526*	TRIM3_uc001mdi.3_Nonsense_Mutation_p.R526*|TRIM3_uc010raj.2_Nonsense_Mutation_p.R407*|TRIM3_uc009yfd.3_Nonsense_Mutation_p.R526*|TRIM3_uc010rak.1_Nonsense_Mutation_p.R526*	NM_006458	NP_006449	O75382	TRIM3_HUMAN	Homo sapiens tripartite motif containing 3 (TRIM3), transcript variant 1, mRNA.	526					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding	p.R526*(2)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGCGTCCTCGGACCCCAAAA	0.582000												
HEATR1	55127	broad.mit.edu	37	1	236721600	236721600	+	Missense_Mutation	SNP	G	G	A	rs143495736	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:236721600G>A	uc001hyd.2	-	35	5293	c.5141C>T	c.(5140-5142)gCg>gTg	p.A1714V	HEATR1_uc009xgh.2_Missense_Mutation_p.A876V	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	Homo sapiens HEAT repeat containing 1 (HEATR1), mRNA.	1714					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	p.A1714T(1)		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)			GCACAGCAGCGCGCTTCCCAG	0.562000												
ADAMTSL1	92949	broad.mit.edu	37	9	18770654	18770654	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:18770654C>T	uc003zne.4	+	16	2424	c.2272C>T	c.(2272-2274)Cgc>Tgc	p.R758C		NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	758						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TTGCAAGCAGCGCATGGCTGA	0.512000												
ZHX2	22882	broad.mit.edu	37	8	123964440	123964440	+	Silent	SNP	C	C	T	rs142739771		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:123964440C>T	uc022bag.1	+	0	690	c.690C>T	c.(688-690)ggC>ggT	p.G230G	ZHX2_uc003ypk.1_Silent_p.G230G	NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	Homo sapiens zinc fingers and homeoboxes 2 (ZHX2), mRNA.	230	Required for homodimerization.					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CGAGACTCGGCGGGGTGGAGC	0.577000												
SH3BP4	23677	broad.mit.edu	37	2	235950141	235950141	+	Missense_Mutation	SNP	G	G	A	rs144140235		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:235950141G>A	uc002vvp.3	+	3	1121	c.728G>A	c.(727-729)cGc>cAc	p.R243H	SH3BP4_uc010fym.3_Missense_Mutation_p.R243H|SH3BP4_uc002vvq.3_Missense_Mutation_p.R243H	NM_014521	NP_055336	Q9P0V3	SH3B4_HUMAN	Homo sapiens SH3-domain binding protein 4 (SH3BP4), mRNA.	243					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		AGAAGCAAGCGCTCCTACAGT	0.572000												
EPHA6	285220	broad.mit.edu	37	3	96706649	96706649	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:96706649C>T	uc010how.1	+	2	969	c.926C>T	c.(925-927)gCc>gTc	p.A309V	EPHA6_uc003drp.1_Missense_Mutation_p.A309V	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	214						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CGTAACTTGGCCATGTTTCCT	0.463000												
NCAN	1463	broad.mit.edu	37	19	19337827	19337827	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:19337827C>T	uc002nlz.3	+	6	1704	c.1605C>T	c.(1603-1605)ggC>ggT	p.G535G	NCAN_uc010ecc.1_Silent_p.G99G	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	535					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			TGGGCAGTGGCCAGAGCCGGA	0.647000												
NOX3	50508	broad.mit.edu	37	6	155743924	155743924	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:155743924G>A	uc003qqm.3	-	9	1315	c.1212C>T	c.(1210-1212)tgC>tgT	p.C404C		NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN	Homo sapiens NADPH oxidase 3 (NOX3), mRNA.	404							electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CCGCGGCAACGCACACACACA	0.532000												
LTBP3	4054	broad.mit.edu	37	11	65325188	65325188	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:65325188C>T	uc001oej.3	-	0	512	c.243G>A	c.(241-243)cgG>cgA	p.R81R	LTBP3_uc010roi.2_5'UTR|LTBP3_uc001oei.3_Silent_p.R81R|LTBP3_uc010roj.2_Silent_p.R67R|LTBP3_uc010rok.1_Intron	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 3 (LTBP3), transcript variant 1, mRNA.	81	Gly-rich.					extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						GACAACTGTCCCGACACTGGC	0.692000												
RELL1	768211	broad.mit.edu	37	4	37651073	37651073	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:37651073C>T	uc003gsz.2	-	1	228	c.138G>A	c.(136-138)tcG>tcA	p.S46S	RELL1_uc010ifc.3_Silent_p.S46S	NM_001085399	NP_001078869	Q8IUW5	RELL1_HUMAN	Homo sapiens RELT-like 1 (RELL1), transcript variant 2, mRNA.	46						cytoplasm|integral to membrane|microtubule cytoskeleton|plasma membrane				endometrium(1)|large_intestine(3)|lung(1)|skin(1)	6						CGTTGCTGGGCGACGGGGTCG	0.502000												
CCDC68	80323	broad.mit.edu	37	18	52609944	52609944	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:52609944A>G	uc002lfs.3	-	2	251	c.79T>C	c.(79-81)Tcc>Ccc	p.S27P	CCDC68_uc002lft.3_Missense_Mutation_p.S27P	NM_001143829	NP_079490	Q9H2F9	CCD68_HUMAN	Homo sapiens coiled-coil domain containing 68 (CCDC68), transcript variant 2, mRNA.	27										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1)	14				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		ATGTGAGCGGACGTAGACTCA	0.378000												
GSTA4	2941	broad.mit.edu	37	6	52849393	52849393	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:52849393A>G	uc003pbf.3	-	4	433	c.283T>C	c.(283-285)Tac>Cac	p.Y95H	GSTA4_uc003pbd.3_Missense_Mutation_p.Y2H	NM_001512	NP_001503	O15217	GSTA4_HUMAN	Homo sapiens glutathione S-transferase alpha 4 (GSTA4), mRNA.	95	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity|protein homodimerization activity			endometrium(1)|lung(3)|skin(2)|urinary_tract(1)	7	Lung NSC(77;0.103)				Glutathione(DB00143)	CCCTCCACGTACATGTCAATC	0.408000												
CLEC14A	161198	broad.mit.edu	37	14	38724733	38724733	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:38724733G>A	uc001wum.1	-	0	842	c.495C>T	c.(493-495)cgC>cgT	p.R165R		NM_175060	NP_778230	Q86T13	CLC14_HUMAN	Homo sapiens C-type lectin domain family 14, member A (CLEC14A), mRNA.	165	C-type lectin.					integral to membrane	sugar binding	p.L164V(1)|p.R165L(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		AGCCGTTGGCGCGCAGGTGGC	0.682000												
SPATA13	221178	broad.mit.edu	37	13	24860366	24860366	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:24860366C>T	uc001upd.2	+	7	2894	c.2316C>T	c.(2314-2316)ggC>ggT	p.G772G	SPATA13_uc001upe.3_Non-coding_Transcript|SPATA13_uc021rhg.1_Silent_p.G772G|SPATA13_uc001upg.2_Silent_p.G147G|SPATA13_uc010tcy.1_Silent_p.G93G|SPATA13_uc010tcz.2_Silent_p.G93G|SPATA13_uc010tdb.2_Silent_p.G69G|SPATA13_uc010tda.2_Silent_p.G91G|SPATA13_uc001uph.3_Silent_p.G69G|SPATA13_uc009zzz.2_5'Flank	NM_153023	NP_694568	Q96N96	SPT13_HUMAN	Homo sapiens spermatogenesis associated 13 (SPATA13), transcript variant 2, mRNA.	147					cell migration|filopodium assembly|lamellipodium assembly|regulation of Rho protein signal transduction|regulation of cell migration	cytoplasm|filopodium|lamellipodium|ruffle membrane	Rac guanyl-nucleotide exchange factor activity|protein binding			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		TCAGTGATGGCAACGTGGTCT	0.592000												
C15orf53	400359	broad.mit.edu	37	15	38990598	38990598	+	Missense_Mutation	SNP	G	G	A	rs143270407	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:38990598G>A	uc001zkf.1	+	1	402	c.392G>A	c.(391-393)cGc>cAc	p.R131H		NM_207444	NP_997327	Q8NAA6	CO053_HUMAN	Homo sapiens chromosome 15 open reading frame 53 (C15orf53), mRNA.	131								p.R131G(1)		endometrium(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	6		all_cancers(109;1.75e-13)|all_epithelial(112;1.02e-11)|Lung NSC(122;1.9e-09)|all_lung(180;4.04e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;8.39e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0321)		ACTGTGCCCCGCCGTTCACCA	0.552000												
ABCC12	94160	broad.mit.edu	37	16	48134814	48134814	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:48134814C>T	uc002efc.1	-	20	3353	c.3007G>A	c.(3007-3009)Gcc>Acc	p.A1003T	ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Non-coding_Transcript|ABCC12_uc002efa.1_Non-coding_Transcript|ABCC12_uc002efb.1_Non-coding_Transcript|ABCC12_uc002efd.1_Non-coding_Transcript	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 12 (ABCC12), mRNA.	1003	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TTGCCATAGGCGTGAATGATG	0.607000												
TP53	7157	broad.mit.edu	37	17	7577548	7577548	+	Missense_Mutation	SNP	C	C	G	rs28934575		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:7577548C>G	uc002gim.2	-	6	927	c.733G>C	c.(733-735)Ggc>Cgc	p.G245R	TP53_uc002gig.1_Missense_Mutation_p.G245R|TP53_uc002gih.3_Missense_Mutation_p.G245R|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.G113R|TP53_uc010cnf.1_Missense_Mutation_p.G113R|TP53_uc002gii.1_Missense_Mutation_p.G113R|TP53_uc010cni.1_Missense_Mutation_p.G245R|TP53_uc010cnh.1_Missense_Mutation_p.G245R|TP53_uc002gij.2_Missense_Mutation_p.G245R|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.G152R|TP53_uc002gio.2_Missense_Mutation_p.G113R|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	245	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G245S(600)|p.G245C(110)|p.G245D(99)|p.G245V(58)|p.G244D(42)|p.G244C(37)|p.G244S(37)|p.G245R(20)|p.G244V(14)|p.G244G(13)|p.G244A(9)|p.G245A(8)|p.G152S(8)|p.0?(8)|p.G245fs*2(5)|p.G244fs*3(5)|p.?(5)|p.G245N(4)|p.G244_M246>V(4)|p.G152C(4)|p.G244R(4)|p.G245G(3)|p.G245H(2)|p.G245L(2)|p.G244fs*17(2)|p.G245F(2)|p.C242_M246>L(2)|p.C238_M246delCNSSCMGGM(2)|p.G245fs*22(2)|p.S241_G245delSCMGG(2)|p.G245del(2)|p.G245fs*14(2)|p.G245fs*17(2)|p.G245fs*16(2)|p.G244_M246del(1)|p.G245E(1)|p.G244fs*4(1)|p.G244fs*19(1)|p.C242fs*98(1)|p.G244del(1)|p.M243fs*18(1)|p.M243_G244>IC(1)|p.G244E(1)|p.G151_M153>V(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CGGTTCATGCCGCCCATGCAG	0.577000	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)		
TTLL1	25809	broad.mit.edu	37	22	43442572	43442572	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:43442572G>A	uc003bdi.3	-	9	1227	c.986C>T	c.(985-987)gCg>gTg	p.A329V	TTLL1_uc010gzh.3_Missense_Mutation_p.A300V|TTLL1_uc021wqt.1_Missense_Mutation_p.A291V|TTLL1_uc003bdj.3_Missense_Mutation_p.A215V	NM_012263	NP_036395	O95922	TTLL1_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 1 (TTLL1), transcript variant 1, mRNA.	329	TTL.				protein polyglutamylation	cytoplasm|microtubule	ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		AGACGGGGACGCATTCACCTG	0.507000												
ZNF528	84436	broad.mit.edu	37	19	52919279	52919279	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:52919279C>T	uc002pzh.3	+	6	1600	c.1174C>T	c.(1174-1176)Cgc>Tgc	p.R392C	ZNF528_uc002pzi.3_Missense_Mutation_p.R159C	NM_032423	NP_115799	Q3MIS6	ZN528_HUMAN	Homo sapiens zinc finger protein 528 (ZNF528), mRNA.	392					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		GGTCTTTGGGCGCAAGTGTTT	0.423000												
ETV1	2115	broad.mit.edu	37	7	13971341	13971341	+	Silent	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:13971341G>T	uc021zzz.1	-	6	675	c.588C>A	c.(586-588)tcC>tcA	p.S196S	ETV1_uc021zzt.1_Silent_p.S156S|ETV1_uc021zzu.1_Silent_p.S93S|ETV1_uc021zzv.1_Silent_p.S138S|ETV1_uc021zzw.1_Silent_p.S156S|ETV1_uc021zzx.1_Silent_p.S93S|ETV1_uc021zzy.1_Silent_p.S138S|ETV1_uc022aaa.1_Silent_p.S178S|ETV1_uc022aab.1_Silent_p.S196S|ETV1_uc003ssw.4_Silent_p.S196S|ETV1_uc003ssx.3_Non-coding_Transcript|ETV1_uc022aac.1_Silent_p.S178S|ETV1_uc022aad.1_Silent_p.S178S|ETV1_uc010ktv.3_Silent_p.S65S	NM_004956	NP_004947	P50549	ETV1_HUMAN	Homo sapiens ets variant 1 (ETV1), transcript variant 1, mRNA.	196					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						AAGGAGGAAAGGAGTTACAGG	0.483000			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""							
SYCP2	10388	broad.mit.edu	37	20	58467173	58467173	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:58467173A>G	uc002yaz.3	-	22	2375	c.2236T>C	c.(2236-2238)Tca>Cca	p.S746P		NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	Homo sapiens synaptonemal complex protein 2 (SYCP2), mRNA.	746					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			ACATCTTTTGACAATATGTAT	0.343000												
KCNN1	3780	broad.mit.edu	37	19	18092607	18092607	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:18092607C>T	uc002nht.3	+	4	898	c.588C>T	c.(586-588)tgC>tgT	p.C196C	KCNN1_uc010xqa.1_Silent_p.C196C	NM_002248	NP_002239	Q92952	KCNN1_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1 (KCNN1), mRNA.	196					synaptic transmission	voltage-gated potassium channel complex	calmodulin binding|small conductance calcium-activated potassium channel activity			endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8						TGGCAGTGTGCGCCATTCACC	0.677000												
MAP3K4	4216	broad.mit.edu	37	6	161508846	161508846	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:161508846G>A	uc003qtn.3	+	9	2825	c.2683G>A	c.(2683-2685)Gta>Ata	p.V895I	MAP3K4_uc010kkc.1_Missense_Mutation_p.V895I|MAP3K4_uc003qto.3_Missense_Mutation_p.V895I|MAP3K4_uc011efz.2_Non-coding_Transcript|MAP3K4_uc011ega.2_Missense_Mutation_p.V348I	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 4 (MAP3K4), transcript variant 1, mRNA.	895					JNK cascade|activation of MAPKK activity|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TTCAGATGACGTACTCATCGA	0.493000												
ZNF609	23060	broad.mit.edu	37	15	64966631	64966631	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:64966631G>A	uc002ann.3	+	3	1578	c.1578G>A	c.(1576-1578)aaG>aaA	p.K526K		NM_015042	NP_055857	O15014	ZN609_HUMAN	Homo sapiens zinc finger protein 609 (ZNF609), mRNA.	526						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATGACAGCAAGCCGGAAGCGG	0.493000												
NFKBIB	4793	broad.mit.edu	37	19	39399417	39399417	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:39399417G>A	uc002ojw.3	+	5	1119	c.1016G>A	c.(1015-1017)cGg>cAg	p.R339Q	NFKBIB_uc010egk.2_Missense_Mutation_p.R253Q|NFKBIB_uc002ojx.3_3'UTR|NFKBIB_uc002ojy.3_3'UTR	NM_002503	NP_001230045	Q15653	IKBB_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta (NFKBIB), transcript variant 1, mRNA.	339			R -> W (in dbSNP:rs17886215).		MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|positive regulation of NF-kappaB transcription factor activity|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleus	protein binding|signal transducer activity|transcription coactivator activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	8	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			AGCCAAACCCGGCTGCCTCCC	0.547000												
HIRA	7290	broad.mit.edu	37	22	19346867	19346867	+	Silent	SNP	C	C	T	rs138814028	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:19346867C>T	uc002zpf.1	-	17	2446	c.2226G>A	c.(2224-2226)gcG>gcA	p.A742A	HIRA_uc011agx.1_Silent_p.A608A|HIRA_uc010grn.1_Intron|HIRA_uc010gro.2_Silent_p.A698A|HIRA_uc010grp.3_Non-coding_Transcript	NM_003325	NP_003316	P54198	HIRA_HUMAN	Homo sapiens HIR histone cell cycle regulation defective homolog A (S. cerevisiae) (HIRA), mRNA.	742	Interaction with PAX3 (By similarity).|Interaction with histone H2B.|Interaction with histone H4.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					ACCAGCTGCCCGCAGCAGTGA	0.637000												
PGC	5225	broad.mit.edu	37	6	41711128	41711128	+	Splice_Site	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:41711128C>T	uc003ora.2	-	4	396	c.329_splice	c.e4-1	p.T110_splice	PGC_uc021yzm.1_Splice_Site_p.T110_splice	NM_002630	NP_002621	P20142	PEPC_HUMAN	Homo sapiens progastricsin (pepsinogen C) (PGC), transcript variant 1, mRNA.	110					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)			GAGTGACTGGCTGCAGGGGAG	0.662000												
SLC4A11	83959	broad.mit.edu	37	20	3209061	3209061	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:3209061G>A	uc010zqe.2	-	18	2656	c.2531C>T	c.(2530-2532)cCg>cTg	p.P844L	SLC4A11_uc002wig.3_Missense_Mutation_p.P817L|SLC4A11_uc002wih.3_Non-coding_Transcript|SLC4A11_uc010zqf.2_Missense_Mutation_p.P801L	NM_001174090	NP_001167561	Q8NBS3	S4A11_HUMAN	Homo sapiens solute carrier family 4, sodium borate transporter, member 11 (SLC4A11), transcript variant 1, mRNA.	817	Membrane (bicarbonate transporter).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						GTAGTGTGTCGGGGGGTACGC	0.672000												
USP17L2	377630	broad.mit.edu	37	8	11996191	11996191	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:11996191C>T	uc003wvc.1	-	0	79	c.79G>A	c.(79-81)Gca>Aca	p.A27T	LOC100506990_uc011kxp.1_Intron|LOC100506990_uc011kxo.1_Intron	NM_201402	NP_958804	Q6R6M4	U17L2_HUMAN	Homo sapiens ubiquitin specific peptidase 17-like 2 (USP17L2), mRNA.	27					G2/M transition checkpoint|apoptosis|cell cycle|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						GCAAAAGCTGCATCTGGCCGA	0.527000												
TLN2	83660	broad.mit.edu	37	15	63092928	63092928	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:63092928C>T	uc002alb.4	+	46	6437	c.6437C>T	c.(6436-6438)gCg>gTg	p.A2146V	TLN2_uc002alc.4_Missense_Mutation_p.A539V	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	2146					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	p.A2146V(2)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GGCACCAGGGCGCTTGAGGCC	0.557000												
NARFL	64428	broad.mit.edu	37	16	780500	780500	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:780500C>T	uc002cjr.3	-	10	1360	c.1348G>A	c.(1348-1350)Gac>Aac	p.D450N	NARFL_uc002cjp.3_Missense_Mutation_p.D348N|NARFL_uc002cjq.3_Missense_Mutation_p.D348N	NM_022493	NP_071938	Q9H6Q4	NARFL_HUMAN	Homo sapiens nuclear prelamin A recognition factor-like (NARFL), mRNA.	450					iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia		4 iron, 4 sulfur cluster binding|metal ion binding			autonomic_ganglia(1)|large_intestine(1)|lung(7)	9		Hepatocellular(780;0.0218)				CACTCCGAGTCCGTGCCCTGC	0.667000												
PLCB4	5332	broad.mit.edu	37	20	9404483	9404483	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:9404483G>A	uc021wam.1	+	23	2387	c.2372G>A	c.(2371-2373)gGc>gAc	p.G791D	PLCB4_uc010gbw.1_Missense_Mutation_p.G791D|PLCB4_uc010gbx.3_Missense_Mutation_p.G803D|PLCB4_uc021wal.1_Missense_Mutation_p.G791D|PLCB4_uc002wnh.3_Missense_Mutation_p.G638D	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	791					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CCGCTTGATGGCCTCCAAGCC	0.438000												
CAP2	10486	broad.mit.edu	37	6	17543142	17543142	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:17543142C>T	uc003ncb.3	+	9	1320	c.1077C>T	c.(1075-1077)tgC>tgT	p.C359C	CAP2_uc010jpk.1_Non-coding_Transcript|CAP2_uc011dja.2_Silent_p.C333C|CAP2_uc011djb.2_Silent_p.C295C|CAP2_uc011djc.2_Silent_p.C247C|CAP2_uc011djd.2_Silent_p.C99C	NM_006366	NP_006357	P40123	CAP2_HUMAN	Homo sapiens CAP, adenylate cyclase-associated protein, 2 (yeast) (CAP2), mRNA.	359	C-CAP/cofactor C-like.				activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			TTTTCAAATGCGAAAAATCAA	0.333000												
NOTCH4	4855	broad.mit.edu	37	6	32165126	32165126	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:32165126G>A	uc003obb.3	-	26	5141	c.5002C>T	c.(5002-5004)Cgc>Tgc	p.R1668C	GPSM3_uc003oaz.3_5'Flank|NOTCH4_uc011dpt.2_Missense_Mutation_p.R77C|NOTCH4_uc003oba.3_Missense_Mutation_p.R328C|NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc011dpw.1_Missense_Mutation_p.R77C	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	1668					Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						AGGGGTGTGCGCCCTGCCCGG	0.657000												
FAM115A	9747	broad.mit.edu	37	7	143573264	143573264	+	Silent	SNP	G	G	A	rs150457102	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:143573264G>A	uc003wdo.2	-	1	571	c.438C>T	c.(436-438)ggC>ggT	p.G146G	FAM115A_uc011ktu.2_Intron|FAM115A_uc003wdp.2_Silent_p.G146G	NM_014719	NP_001193870	Q9Y4C2	F115A_HUMAN	Homo sapiens family with sequence similarity 115, member A (FAM115A), transcript variant 1, mRNA.	146										NS(1)|endometrium(1)|lung(5)	7	Melanoma(164;0.0903)					TGAGCAAGCCGCCACCACATT	0.522000												
APOBEC3D	140564	broad.mit.edu	37	22	39418941	39418941	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:39418941C>T	uc003awt.4	+	1	539	c.132C>T	c.(130-132)ggC>ggT	p.G44G	APOBEC3D_uc021wpq.1_Silent_p.G44G|APOBEC3D_uc010gxu.3_5'UTR|APOBEC3D_uc003awu.4_Silent_p.G44G	NM_152426	NP_689639	Q96AK3	ABC3D_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D (APOBEC3D), mRNA.	44					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					TAAAGAGGGGCCGCTCAAATC	0.502000												
WISP1	8840	broad.mit.edu	37	8	134237815	134237815	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:134237815A>G	uc003yub.3	+	3	899	c.793A>G	c.(793-795)Aca>Gca	p.T265A	WISP1_uc003yuc.3_Missense_Mutation_p.T178A|WISP1_uc010meb.3_Missense_Mutation_p.T93A|WISP1_uc010mec.3_Intron|WISP1_uc010med.3_Intron|WISP1_uc003yud.3_Intron	NM_003882	NP_003873	O95388	WISP1_HUMAN	Homo sapiens WNT1 inducible signaling pathway protein 1 (WISP1), transcript variant 1, mRNA.	265					Wnt receptor signaling pathway|cell adhesion|cell-cell signaling|regulation of cell growth	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			GGACATCCATACACTCATTAA	0.557000												
ADAMTS20	80070	broad.mit.edu	37	12	43944883	43944883	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:43944883G>A	uc010skx.2	-	1	282	c.282C>T	c.(280-282)acC>acT	p.T94T		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	94						proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ATGCATCGGCGGTCAGGTTCA	0.677000												
BICD2	23299	broad.mit.edu	37	9	95481525	95481525	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:95481525C>T	uc004asp.1	-	4	1459	c.1402G>A	c.(1402-1404)Gcc>Acc	p.A468T	BICD2_uc004aso.1_Missense_Mutation_p.A468T	NM_001003800	NP_001003800	Q8TD16	BICD2_HUMAN	Homo sapiens bicaudal D homolog 2 (Drosophila) (BICD2), transcript variant 1, mRNA.	468					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	Golgi apparatus|cytoplasmic vesicle|cytoskeleton|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						TTCTCCTCGGCGTGCTGGGCC	0.682000												
ALPPL2	251	broad.mit.edu	37	2	233274433	233274433	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:233274433G>A	uc002vss.4	+	10	1503	c.1450G>A	c.(1450-1452)Gcc>Acc	p.A484T		NM_031313	NP_112603	P10696	PPBN_HUMAN	Homo sapiens alkaline phosphatase, placental-like 2 (ALPPL2), mRNA.	484					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	CATGGCCTTCGCCGCCTGCCT	0.751000												
OR8B3	390271	broad.mit.edu	37	11	124266483	124266483	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:124266483C>T	uc010saj.2	-	0	765	c.765G>A	c.(763-765)gcG>gcA	p.A255A	OR8B2_uc001qab.3_Intron	NM_001005467	NP_001005467	Q8NGG8	OR8B3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 3 (OR8B3), mRNA.	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		ACATGAATGCCGCTGACCCAA	0.398000												
PCDHB7	56129	broad.mit.edu	37	5	140554671	140554671	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:140554671G>A	uc003lit.3	+	0	2429	c.2255G>A	c.(2254-2256)tGc>tAc	p.C752Y	PCDHB8_uc011dai.2_5'Flank	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	752					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TATGAGGTGTGCCTGACTGGA	0.582000												
SYNE1	23345	broad.mit.edu	37	6	152652833	152652833	+	Silent	SNP	C	C	T	rs140361556	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:152652833C>T	uc021zhb.1	-	75	13210	c.12987G>A	c.(12985-12987)gaG>gaA	p.E4329E	SYNE1_uc003qot.4_Silent_p.E4258E|SYNE1_uc003qou.4_Silent_p.E4329E|SYNE1_uc010kiz.3_Silent_p.E84E	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	4329					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TAATGAGGTCCTCAAGCTGAA	0.418000										HNSCC(10;0.0054)		
TMC5	79838	broad.mit.edu	37	16	19483429	19483429	+	Missense_Mutation	SNP	G	G	A	rs141710338	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:19483429G>A	uc002dgc.4	+	10	2551	c.1802G>A	c.(1801-1803)cGt>cAt	p.R601H	TMC5_uc010vaq.2_Intron|TMC5_uc002dgb.4_Missense_Mutation_p.R601H|TMC5_uc010var.2_Missense_Mutation_p.R601H|TMC5_uc002dgd.1_Missense_Mutation_p.R355H|TMC5_uc002dge.4_Missense_Mutation_p.R355H|TMC5_uc002dgf.4_Missense_Mutation_p.R284H|TMC5_uc002dgg.4_Missense_Mutation_p.R242H	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	601						integral to membrane		p.T600T(2)|p.R601H(1)|p.R355H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TCAGAGCTCCGTCAGGAGAAT	0.532000												
CBFB	865	broad.mit.edu	37	16	67116168	67116168	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:67116168G>A	uc002era.3	+	4	713	c.452G>A	c.(451-453)cGc>cAc	p.R151H	CBFB_uc002erb.3_Missense_Mutation_p.R151H|CBFB_uc010vja.2_Intron	NM_001755	NP_001746	Q13951	PEBB_HUMAN	Homo sapiens core-binding factor, beta subunit (CBFB), transcript variant 2, mRNA.	151					transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(3)|large_intestine(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00189)|Epithelial(162;0.00755)|all cancers(182;0.066)		AGAAGGACACGCGAATTTGAA	0.428000			T	MYH11	AML							
GPR35	2859	broad.mit.edu	37	2	241569890	241569890	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:241569890C>T	uc010fzi.2	+	5	1486	c.614C>T	c.(613-615)gCg>gTg	p.A205V	GPR35_uc010fzh.2_Missense_Mutation_p.A205V|GPR35_uc021vze.1_Missense_Mutation_p.A174V|GPR35_uc002vzs.2_Missense_Mutation_p.A174V	NM_001195381	NP_001182310	Q9HC97	GPR35_HUMAN	Homo sapiens G protein-coupled receptor 35 (GPR35), transcript variant 2, mRNA.	174						integral to plasma membrane	G-protein coupled receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		AACTCCATGGCGTTCCCGCTG	0.657000												
DNMBP	23268	broad.mit.edu	37	10	101639731	101639731	+	Missense_Mutation	SNP	G	G	A	rs147752816	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:101639731G>A	uc001kqj.2	-	15	4477	c.4385C>T	c.(4384-4386)aCg>aTg	p.T1462M	DNMBP_uc010qpl.1_Missense_Mutation_p.T398M|DNMBP_uc001kqg.2_Missense_Mutation_p.T750M|DNMBP_uc001kqh.2_Missense_Mutation_p.T1094M	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	Homo sapiens dynamin binding protein (DNMBP), mRNA.	1462					intracellular signal transduction|regulation of Rho protein signal transduction	Golgi stack|cell junction|cytoskeleton|synapse	Rho guanyl-nucleotide exchange factor activity|protein binding			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		GCTCCTCGGCGTGGCAGTGGG	0.537000												
TXNDC11	51061	broad.mit.edu	37	16	11815525	11815525	+	Splice_Site	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:11815525G>T	uc010buu.1	-	5	762	c.700_splice	c.e5-1	p.P234_splice	TXNDC11_uc002dbg.1_Splice_Site_p.P234_splice	NM_015914	NP_056998	Q6PKC3	TXD11_HUMAN	Homo sapiens thioredoxin domain containing 11 (TXNDC11), mRNA.	234					cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GAGTACTCCAGGCTGCAGGAA	0.403000												
CDKN2D	1032	broad.mit.edu	37	19	10678072	10678072	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:10678072C>T	uc002mpa.3	-	1	465	c.163G>A	c.(163-165)Gcc>Acc	p.A55T	KRI1_uc002mox.1_5'Flank|KRI1_uc002moy.1_5'Flank|CDKN2D_uc002mpb.3_Missense_Mutation_p.A55T	NM_001800	NP_524145	P55273	CDN2D_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4) (CDKN2D), transcript variant 1, mRNA.	55					DNA synthesis involved in DNA repair|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|anti-apoptosis|autophagic cell death|cell cycle arrest|negative regulation of caspase activity|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|response to UV|response to retinoic acid|response to vitamin D	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding			endometrium(3)|lung(2)|ovary(1)	6			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			AGGGCGATGGCGGTGCTGCCA	0.587000												
SYNE1	23345	broad.mit.edu	37	6	152746516	152746516	+	Splice_Site	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:152746516C>T	uc021zhb.1	-	37	5490	c.5267_splice	c.e37+1	p.R1756_splice	SYNE1_uc003qot.4_Splice_Site_p.R1763_splice|SYNE1_uc003qou.4_Splice_Site_p.R1756_splice|SYNE1_uc010kjb.1_Splice_Site_p.R1739_splice	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	1756					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TAGAACCAACCTTTTGTTAAT	0.299000										HNSCC(10;0.0054)		
FAM114A1	92689	broad.mit.edu	37	4	38907188	38907188	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:38907188G>A	uc003gtn.3	+	4	741	c.482G>A	c.(481-483)cGg>cAg	p.R161Q	FAM114A1_uc011byh.2_5'UTR	NM_138389	NP_612398	Q8IWE2	NXP20_HUMAN	Homo sapiens family with sequence similarity 114, member A1 (FAM114A1), transcript variant 1, mRNA.	161						cytoplasm		p.L160V(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	20						GCCACTCTACGGATTCATGGT	0.443000												
RABEP1	9135	broad.mit.edu	37	17	5264866	5264866	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:5264866G>T	uc002gbm.4	+	8	1683	c.1459G>T	c.(1459-1461)Gcg>Tcg	p.A487S	RABEP1_uc010clc.1_Missense_Mutation_p.A480S|RABEP1_uc010cld.1_Missense_Mutation_p.A444S|RABEP1_uc010vsw.1_Missense_Mutation_p.A444S|RABEP1_uc002gbl.4_Missense_Mutation_p.A487S|NUP88_uc002gbn.3_Non-coding_Transcript	NM_004703	NP_004694	Q15276	RABE1_HUMAN	Homo sapiens rabaptin, RAB GTPase binding effector protein 1 (RABEP1), transcript variant 1, mRNA.	487					apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	GTPase activator activity|growth factor activity|protein homodimerization activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						AGAAGAGACAGCGTCCCTCCT	0.483000												
TRPA1	8989	broad.mit.edu	37	8	72987551	72987551	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:72987551A>C	uc003xza.3	-	0	269	c.94T>G	c.(94-96)Ttc>Gtc	p.F32V		NM_007332	NP_015628	O75762	TRPA1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily A, member 1 (TRPA1), mRNA.	32						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	GATTCCTTGAAATCCTCCGTG	0.632000												
POM121C	100101267	broad.mit.edu	37	7	75068501	75068501	+	Splice_Site	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:75068501G>A	uc003udk.4	-	6	1113	c.228_splice	c.e6-1	p.R76_splice	POM121C_uc010lde.1_Splice_Site_p.R318_splice	NM_001099415	NP_001092885	A8CG34	P121C_HUMAN	Homo sapiens POM121 membrane glycoprotein C (POM121C), mRNA.	318	Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						CTATCATGGCGCCTGCGACAA	0.458000												
TG	7038	broad.mit.edu	37	8	133931753	133931753	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:133931753C>A	uc003ytw.3	+	20	4552	c.4511C>A	c.(4510-4512)gCt>gAt	p.A1504D	TG_uc010mdw.3_Missense_Mutation_p.A263D|TG_uc011ljb.2_5'UTR|TG_uc003ytx.1_Non-coding_Transcript	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	1504					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TCTGCTGGAGCTTTCAGCCAG	0.488000												
RYR3	6263	broad.mit.edu	37	15	34134153	34134153	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:34134153C>T	uc001zhi.3	+	90	13196	c.13126C>T	c.(13126-13128)Cgg>Tgg	p.R4376W	RYR3_uc010bar.3_Missense_Mutation_p.R4371W	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	4376					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GAAGAAGCGGCGGTGTGGTCA	0.458000												
LNX1	84708	broad.mit.edu	37	4	54364904	54364904	+	Silent	SNP	G	G	A	rs138813024		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:54364904G>A	uc003hag.4	-	4	1138	c.882C>T	c.(880-882)agC>agT	p.S294S	PDGFRA_uc003haa.3_Intron|LNX1_uc003haf.4_Silent_p.S198S|LNX1_uc003hah.4_Intron	NM_001126328	NP_001119800	Q8TBB1	LNX1_HUMAN	Homo sapiens ligand of numb-protein X 1 (LNX1), transcript variant 1, mRNA.	294	PDZ 1.					cytoplasm	zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GTGGGGTTTCGCTACCTCCCA	0.488000												
POPDC3	64208	broad.mit.edu	37	6	105609713	105609713	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:105609713C>A	uc003prb.3	-	1	474	c.72G>T	c.(70-72)gaG>gaT	p.E24D	BVES-AS1_uc003pqz.3_Intron|POPDC3_uc003pra.3_Non-coding_Transcript	NM_022361	NP_071756	Q9HBV1	POPD3_HUMAN	Homo sapiens popeye domain containing 3 (POPDC3), transcript variant 1, mRNA.	24						integral to membrane		p.Q23R(1)		NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				CTCCTTCGGCCTCTTGCTTCC	0.433000												
GLP2R	9340	broad.mit.edu	37	17	9739794	9739794	+	Splice_Site	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:9739794T>C	uc002gmd.1	+	3	382	c.382_splice	c.e3+2	p.E128_splice	GLP2R_uc010cog.1_Splice_Site	NM_004246	NP_004237	O95838	GLP2R_HUMAN	Homo sapiens glucagon-like peptide 2 receptor (GLP2R), mRNA.	128					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	GGAGTGAAGGTAATAAGTCTT	0.438000												
SPRR4	163778	broad.mit.edu	37	1	152944506	152944506	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:152944506C>A	uc001fav.1	+	1	203	c.140C>A	c.(139-141)gCt>gAt	p.A47D	SPRR4_uc021ozm.1_Missense_Mutation_p.A47D	NM_173080	NP_775103	Q96PI1	SPRR4_HUMAN	Homo sapiens small proline-rich protein 4 (SPRR4), mRNA.	47	Gln-rich.				keratinization|peptide cross-linking	cell cortex				lung(1)|prostate(1)	2	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GATCCATGTGCTCCCCAGGTC	0.557000												
SLC22A10	387775	broad.mit.edu	37	11	63057764	63057764	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:63057764G>T	uc009yor.3	+	0	335	c.127G>T	c.(127-129)Gcc>Tcc	p.A43S	SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.4_Non-coding_Transcript|SLC22A10_uc010rmp.1_5'UTR	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.	43						integral to membrane	transmembrane transporter activity	p.A42S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTTTGCTGCAGCCATTCCTGG	0.443000												
CNKSR3	154043	broad.mit.edu	37	6	154481146	154481146	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:154481146G>A	uc021zhc.1	-	21	3022	c.2517C>T	c.(2515-2517)aaC>aaT	p.N839N	OPRM1_uc003qpt.1_Intron|CNKSR3_uc003qpv.3_Silent_p.N248N|CNKSR3_uc003qpw.3_Silent_p.N378N|CNKSR3_uc003qpx.3_Silent_p.N377N|CNKSR3_uc010kjh.3_Silent_p.N378N	NM_173515	NP_775786	Q6P9H4	CNKR3_HUMAN	Homo sapiens CNKSR family member 3 (CNKSR3), mRNA.	0					negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		CCAGCAACTGGTTAATCATGG	0.453000												
GIF	2694	broad.mit.edu	37	11	59611434	59611434	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:59611434C>T	uc001noi.3	-	1	222	c.174G>A	c.(172-174)ctG>ctA	p.L58L	GIF_uc010rkz.1_Silent_p.L58L	NM_005142	NP_005133	P27352	IF_HUMAN	Homo sapiens gastric intrinsic factor (vitamin B synthesis) (GIF), mRNA.	58					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						TCATGGCAATCAGGATGCTGG	0.542000												
RALGAPA2	57186	broad.mit.edu	37	20	20493786	20493786	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:20493786G>A	uc002wrz.3	-	31	4370	c.4227C>T	c.(4225-4227)gcC>gcT	p.A1409A	RALGAPA2_uc002wry.3_Silent_p.A1024A|RALGAPA2_uc010zsg.2_Silent_p.A857A|RALGAPA2_uc002wsa.1_Silent_p.A181A	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA.	1409					activation of Ral GTPase activity	cytosol|nucleus	Ral GTPase activator activity|protein heterodimerization activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						CTTCCACATGGGCATTGTCAT	0.547000												
GPSM2	29899	broad.mit.edu	37	1	109461284	109461284	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:109461284C>T	uc010ovc.2	+	11	1809	c.1313C>T	c.(1312-1314)gCc>gTc	p.A438V	AKNAD1_uc010ovb.2_Intron|GPSM2_uc010ovd.2_Missense_Mutation_p.A438V|GPSM2_uc010ove.1_Missense_Mutation_p.A438V	NM_013296	NP_037428	P81274	GPSM2_HUMAN	Homo sapiens G-protein signaling modulator 2 (GPSM2), mRNA.	438					G-protein coupled receptor protein signaling pathway	cell cortex|nucleus	GTPase activator activity|identical protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		CCTCTTATTGCCAAACCTTCT	0.388000												
GAS2L3	283431	broad.mit.edu	37	12	101018596	101018596	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:101018596A>T	uc001thu.3	+	9	2239	c.2013A>T	c.(2011-2013)aaA>aaT	p.K671N	GAS2L3_uc009zty.3_Missense_Mutation_p.K671N|GAS2L3_uc001thv.3_Missense_Mutation_p.K567N	NM_174942	NP_777602	Q86XJ1	GA2L3_HUMAN	Homo sapiens growth arrest-specific 2 like 3 (GAS2L3), mRNA.	671					cell cycle arrest					endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						GAGATAAAAAACCTACTGCAA	0.378000												
RNF20	56254	broad.mit.edu	37	9	104302555	104302555	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:104302555C>T	uc004bbn.3	+	2	290	c.200C>T	c.(199-201)gCc>gTc	p.A67V		NM_019592	NP_062538	Q5VTR2	BRE1A_HUMAN	Homo sapiens ring finger protein 20 (RNF20), mRNA.	67					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)		CAGCGGCAGGCCATTGAAGAT	0.463000												
GCLM	2730	broad.mit.edu	37	1	94360188	94360188	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:94360188T>C	uc001dqg.1	-	5	930	c.637A>G	c.(637-639)Act>Gct	p.T213A		NM_002061	NP_002052	P48507	GSH0_HUMAN	Homo sapiens glutamate-cysteine ligase, modifier subunit (GCLM), mRNA.	213					glutamate metabolic process|glutathione biosynthetic process|regulation of blood vessel size|response to drug|response to oxidative stress|xenobiotic metabolic process	cytosol|soluble fraction	glutamate-cysteine ligase catalytic subunit binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_lung(203;0.000815)|Lung NSC(277;0.00363)		all cancers(265;0.00566)|GBM - Glioblastoma multiforme(16;0.0203)|Epithelial(280;0.131)	L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)	TCATTGTGAGTCAACAGCTGT	0.323000												
IFT88	8100	broad.mit.edu	37	13	21189979	21189979	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:21189979C>T	uc001unh.3	+	15	1583	c.1187C>T	c.(1186-1188)gCt>gTt	p.A396V	IFT88_uc001uni.3_Missense_Mutation_p.A387V|IFT88_uc001unj.3_Missense_Mutation_p.A386V|IFT88_uc010tcq.2_Missense_Mutation_p.A367V|IFT88_uc001unk.3_Missense_Mutation_p.A142V|IFT88_uc001unl.1_Missense_Mutation_p.A14V	NM_175605	NP_006522	Q13099	IFT88_HUMAN	Homo sapiens intraflagellar transport 88 homolog (Chlamydomonas) (IFT88), transcript variant 1, mRNA.	396					cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		AAACTCATTGCTCCTGTAATT	0.284000												
HDX	139324	broad.mit.edu	37	X	83724399	83724399	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:83724399T>C	uc011mqv.2	-	3	579	c.332A>G	c.(331-333)tAc>tGc	p.Y111C	HDX_uc004eel.2_Missense_Mutation_p.Y53C|HDX_uc004eek.2_Missense_Mutation_p.Y111C	NM_001177479	NP_001170949	Q7Z353	HDX_HUMAN	Homo sapiens highly divergent homeobox (HDX), transcript variant 1, mRNA.	111						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.I110M(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						GGCTGGACTGTATATACCAGT	0.403000												
PCMT1	5110	broad.mit.edu	37	6	150111190	150111190	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:150111190G>A	uc003qna.3	+	3	500	c.467G>A	c.(466-468)cGt>cAt	p.R156H	PCMT1_uc003qnb.3_Missense_Mutation_p.R156H|PCMT1_uc003qne.3_Missense_Mutation_p.R156H|PCMT1_uc011eeg.2_Missense_Mutation_p.R121H|PCMT1_uc003qnd.3_Intron|PCMT1_uc003qnf.3_Intron	NM_001252053	NP_001238982			Homo sapiens protein-L-isoaspartate (D-aspartate) O-methyltransferase (PCMT1), transcript variant 6, mRNA.											kidney(1)|large_intestine(2)|lung(4)|ovary(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.221)	OV - Ovarian serous cystadenocarcinoma(155;5.63e-13)|GBM - Glioblastoma multiforme(68;0.207)		TGTTTTGCACGTATGGTAAGA	0.363000												
PTN	5764	broad.mit.edu	37	7	136936003	136936003	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:136936003C>T	uc003vtq.2	-	3	788	c.425G>A	c.(424-426)gGc>gAc	p.G142D		NM_002825	NP_002816	P21246	PTN_HUMAN	Homo sapiens pleiotrophin (PTN), mRNA.	142					nervous system development|positive regulation of cell division|positive regulation of cell proliferation|transmembrane receptor protein tyrosine phosphatase signaling pathway	endoplasmic reticulum|extracellular space	growth factor activity|heparin binding|protein phosphatase inhibitor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						GGTCAGTTTGCCACAGGGCTT	0.483000												
ATF7IP2	80063	broad.mit.edu	37	16	10524906	10524906	+	Silent	SNP	C	C	T	rs114568129	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:10524906C>T	uc002czw.3	+	1	588	c.429C>T	c.(427-429)aaC>aaT	p.N143N	ATF7IP2_uc010uyp.2_Intron|ATF7IP2_uc002czu.3_Silent_p.N143N|ATF7IP2_uc002czv.3_Silent_p.N143N|ATF7IP2_uc010uyo.2_Non-coding_Transcript|ATF7IP2_uc010uyq.2_Non-coding_Transcript	NM_024997	NP_079273	Q5U623	MCAF2_HUMAN	Homo sapiens activating transcription factor 7 interacting protein 2 (ATF7IP2), transcript variant 1, mRNA.	143					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						CTTCTGAAAACGATTCTGAGC	0.438000												
CKAP2L	150468	broad.mit.edu	37	2	113514730	113514730	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:113514730G>T	uc002tie.2	-	3	297	c.218C>A	c.(217-219)tCc>tAc	p.S73Y	CKAP2L_uc002tif.2_5'UTR|CKAP2L_uc010yxp.1_5'UTR|CKAP2L_uc010yxq.1_5'UTR	NM_152515	NP_689728	Q8IYA6	CKP2L_HUMAN	Homo sapiens cytoskeleton associated protein 2-like (CKAP2L), mRNA.	73						centrosome				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						AATGCTGATGGACCTTTTAGG	0.403000												
ALDH3B2	222	broad.mit.edu	37	11	67432886	67432886	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:67432886G>A	uc001omr.3	-	6	1015	c.576C>T	c.(574-576)ggC>ggT	p.G192G	ALDH3B2_uc001oms.3_Silent_p.G192G|ALDH3B2_uc009ysa.1_Silent_p.G192G	NM_000695	NP_001026786	P48448	AL3B2_HUMAN	Homo sapiens aldehyde dehydrogenase 3 family, member B2 (ALDH3B2), transcript variant 1, mRNA.	192					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18					NADH(DB00157)	GGGGGTCGTCGCCATAGAAAC	0.662000												
PLCH1	23007	broad.mit.edu	37	3	155203197	155203197	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:155203197C>T	uc021xge.1	-	21	3223	c.2946G>A	c.(2944-2946)tcG>tcA	p.S982S	PLCH1_uc021xgd.1_Silent_p.S982S|PLCH1_uc021xgf.1_Silent_p.S944S	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	982					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)			ATACAGGCAGCGACAAAGCTC	0.468000												
CLMN	79789	broad.mit.edu	37	14	95682030	95682030	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:95682030C>T	uc001yef.2	-	4	481	c.365G>A	c.(364-366)gGc>gAc	p.G122D		NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN	Homo sapiens calmin (calponin-like, transmembrane) (CLMN), mRNA.	122	Actin-binding.|CH 1.					integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		AGAAGGGTTGCCATCTGCTAT	0.408000												
USP34	9736	broad.mit.edu	37	2	61597500	61597500	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:61597500G>A	uc002sbe.3	-	9	1229	c.1207C>T	c.(1207-1209)Cga>Tga	p.R403*		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA.	403					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GTACTCAGTCGCCCTTCTGCT	0.333000												
GPRIN2	9721	broad.mit.edu	37	10	46999760	46999760	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:46999760G>A	uc001jec.3	+	2	1015	c.880G>A	c.(880-882)Gcc>Acc	p.A294T	GPRIN2_uc021ppt.1_Missense_Mutation_p.A294T	NM_014696	NP_055511	O60269	GRIN2_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 2 (GPRIN2), mRNA.	294										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						CCATTGCTGTGCCCACCTTTG	0.607000												
PKN3	29941	broad.mit.edu	37	9	131475831	131475831	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:131475831C>T	uc004bvw.3	+	8	1539	c.1146C>T	c.(1144-1146)ggC>ggT	p.G382G	PKN3_uc010myh.3_Silent_p.G382G|PKN3_uc022bom.1_Non-coding_Transcript	NM_013355	NP_037487	Q6P5Z2	PKN3_HUMAN	Homo sapiens protein kinase N3 (PKN3), mRNA.	382					signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						AGCTATGTGGCGTGGCCTTCC	0.622000												
DOCK4	9732	broad.mit.edu	37	7	111407090	111407090	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:111407090G>A	uc003vfy.3	-	38	4290	c.4021C>T	c.(4021-4023)Cgg>Tgg	p.R1341W	DOCK4_uc011kml.2_Missense_Mutation_p.R177W|DOCK4_uc011kmm.2_Missense_Mutation_p.R203W|DOCK4_uc003vfw.3_Missense_Mutation_p.R746W|DOCK4_uc003vfx.3_Missense_Mutation_p.R1296W	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA.	1296	DHR-2.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity|receptor tyrosine kinase 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)				CACCTTACCCGCATCTTGCTC	0.443000												
ODZ3	55714	broad.mit.edu	37	4	183603050	183603050	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:183603050A>G	uc003ivd.1	+	9	1993	c.1918A>G	c.(1918-1920)Aat>Gat	p.N640D	ODZ3_uc003ive.1_Missense_Mutation_p.N46D	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	640	EGF-like 4.				signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		GGGAGGTAGCAATTGTGAAAT	0.507000												
INPPL1	3636	broad.mit.edu	37	11	71939260	71939260	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:71939260G>A	uc001osf.3	+	1	356	c.209G>A	c.(208-210)cGc>cAc	p.R70H	INPPL1_uc001osg.3_5'UTR	NM_001567	NP_001558	O15357	SHIP2_HUMAN	Homo sapiens inositol polyphosphate phosphatase-like 1 (INPPL1), mRNA.	70	SH2.				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	SH2 domain binding|SH3 domain binding|actin binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CACACGTATCGCATTCTGCCT	0.587000												
JOSD2	126119	broad.mit.edu	37	19	51009492	51009492	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:51009492C>T	uc002psn.1	-	4	536	c.505G>A	c.(505-507)Gag>Aag	p.E169K	JOSD2_uc002psp.1_Missense_Mutation_p.E169K|JOSD2_uc002pso.1_Missense_Mutation_p.E169K|JOSD2_uc002psq.1_Missense_Mutation_p.E127K	NM_138334	NP_612207	Q8TAC2	JOS2_HUMAN	Homo sapiens Josephin domain containing 2 (JOSD2), mRNA.	169	Josephin.				protein deubiquitination		ubiquitin-specific protease activity			kidney(1)|lung(3)|prostate(1)	5		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0364)		AGCAGCACCTCGCACAGGCCC	0.682000												
GGA3	23163	broad.mit.edu	37	17	73235918	73235918	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:73235918G>A	uc002jni.2	-	12	1574	c.1535C>T	c.(1534-1536)gCg>gTg	p.A512V	GGA3_uc002jnk.2_Missense_Mutation_p.A440V|GGA3_uc002jnj.2_Missense_Mutation_p.A479V|GGA3_uc010wry.2_Missense_Mutation_p.A440V|GGA3_uc010wrw.2_Missense_Mutation_p.A390V|GGA3_uc010wrx.2_Missense_Mutation_p.A390V	NM_138619	NP_619525	Q9NZ52	GGA3_HUMAN	Homo sapiens golgi-associated, gamma adaptin ear containing, ARF binding protein 3 (GGA3), transcript variant long, mRNA.	512	Unstructured hinge.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			GTGGTGCAGCGCGCTGTTGCC	0.602000												
RBM7	10179	broad.mit.edu	37	11	114278293	114278293	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:114278293T>C	uc001pow.3	+	4	578	c.568T>C	c.(568-570)Tgg>Cgg	p.W190R	RBM7_uc001pov.3_Missense_Mutation_p.W189R|RBM7_uc001pox.3_Missense_Mutation_p.W69R	NM_016090	NP_057174	Q9Y580	RBM7_HUMAN	Homo sapiens RNA binding motif protein 7 (RBM7), mRNA.	189					meiosis		RNA binding|nucleotide binding|protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348)		AAGCTCCCAGTGGCGCCAAGG	0.428000												
SSTR1	6751	broad.mit.edu	37	14	38679346	38679346	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:38679346G>A	uc021rsi.1	+	0	752	c.752G>A	c.(751-753)cGc>cAc	p.R251H	SSTR1_uc001wul.1_Missense_Mutation_p.R251H	NM_001049	NP_001040	P30872	SSR1_HUMAN	Homo sapiens somatostatin receptor 1 (SSTR1), mRNA.	251					G-protein signaling, coupled to cyclic nucleotide second messenger|digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity	p.M250I(1)		breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	GCTAAGATGCGCATGGTGGCC	0.582000												
CALCRL	10203	broad.mit.edu	37	2	188247920	188247920	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:188247920T>C	uc010frt.3	-	3	547	c.164A>G	c.(163-165)gAc>gGc	p.D55G	CALCRL_uc002upv.4_Missense_Mutation_p.D55G	NM_005795	NP_005786	Q16602	CALRL_HUMAN	Homo sapiens calcitonin receptor-like (CALCRL), mRNA.	55						integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			TTGAATGGGGTCTTGCATAAT	0.343000												
EEF1D	1936	broad.mit.edu	37	8	144663239	144663239	+	Silent	SNP	C	C	T	rs138645618		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:144663239C>T	uc003yyq.2	-	4	1852	c.1623G>A	c.(1621-1623)acG>acA	p.T541T	NAPRT1_uc003yym.4_5'Flank|NAPRT1_uc003yyn.4_5'Flank|NAPRT1_uc011lkh.2_5'Flank|NAPRT1_uc003yyo.4_5'Flank|EEF1D_uc003yyp.2_Silent_p.T467T|EEF1D_uc011lki.2_Silent_p.T125T|EEF1D_uc003yyv.3_Silent_p.T101T|EEF1D_uc003yyu.3_Silent_p.T125T|EEF1D_uc011lkk.2_Silent_p.T125T|EEF1D_uc003yyt.3_Silent_p.T491T|EEF1D_uc003yyr.3_Silent_p.T491T|EEF1D_uc003yys.3_Silent_p.T125T|EEF1D_uc011lkl.2_Silent_p.T106T	NM_032378	NP_115754	P29692	EF1D_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein) (EEF1D), transcript variant 1, mRNA.	125					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			TCTGTGGGGCCGTGGCCCGGT	0.697000												
ARL5A	26225	broad.mit.edu	37	2	152663340	152663340	+	Silent	SNP	G	G	A	rs150433799		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:152663340G>A	uc002txx.1	-	4	805	c.486C>T	c.(484-486)ggC>ggT	p.G162G	ARL5A_uc010zcc.2_Non-coding_Transcript|ARL5A_uc002txv.1_Silent_p.G125G|ARL5A_uc002txw.1_Silent_p.G125G	NM_012097	NP_817114	Q9Y689	ARL5A_HUMAN	Homo sapiens ADP-ribosylation factor-like 5A (ARL5A), transcript variant 1, mRNA.	162					small GTPase mediated signal transduction	intracellular	GTP binding			breast(1)|large_intestine(2)|liver(1)|lung(2)	6				BRCA - Breast invasive adenocarcinoma(221;0.153)		CTTACCCCTCGCCAGTTAGAG	0.358000												
MDN1	23195	broad.mit.edu	37	6	90363931	90363931	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:90363931C>T	uc003pnn.1	-	92	15729	c.15613G>A	c.(15613-15615)Gag>Aag	p.E5205K		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	5205					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTCAGCTGCTCCACGTCTGCT	0.532000												
PKD1L1	168507	broad.mit.edu	37	7	47971625	47971625	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:47971625C>T	uc003tny.2	-	4	461	c.427G>A	c.(427-429)Gca>Aca	p.A143T		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	143					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CAGGCCCTTGCGATTATAATG	0.498000												
PLXNA1	5361	broad.mit.edu	37	3	126733645	126733645	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:126733645G>A	uc003ejg.3	+	12	2848	c.2848G>A	c.(2848-2850)Gcc>Acc	p.A950T		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	Homo sapiens plexin A1 (PLXNA1), mRNA.	950	IPT/TIG 1.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		ACACTACCGCGCCCTGTCACC	0.642000												
TGFB2	7042	broad.mit.edu	37	1	218607501	218607501	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:218607501C>T	uc001hlm.3	+	2	1956	c.588C>T	c.(586-588)ggC>ggT	p.G196G	TGFB2_uc001hln.3_Silent_p.G224G|TGFB2_uc010pue.2_Non-coding_Transcript|TGFB2_uc001hlo.3_Non-coding_Transcript	NM_003238	NP_003229	P61812	TGFB2_HUMAN	Homo sapiens transforming growth factor, beta 2 (TGFB2), transcript variant 2, mRNA.	196					SMAD protein import into nucleus|activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding			breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		GAGCAGAAGGCGAATGGCTCT	0.453000												
ANGPT1	284	broad.mit.edu	37	8	108296925	108296925	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:108296925T>C	uc003ymn.3	-	6	1658	c.1190A>G	c.(1189-1191)gAa>gGa	p.E397G	ANGPT1_uc011lhv.2_Missense_Mutation_p.E197G|ANGPT1_uc003ymo.3_Missense_Mutation_p.E396G|ANGPT1_uc003ymp.4_Missense_Mutation_p.E196G	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	Homo sapiens angiopoietin 1 (ANGPT1), transcript variant 1, mRNA.	397	Fibrinogen C-terminal.				Tie receptor signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of ERK1 and ERK2 cascade|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			GTTTTGCTTTTCATTTCCTAT	0.388000												
TUB	7275	broad.mit.edu	37	11	8119372	8119372	+	Splice_Site	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:8119372C>T	uc001mga.3	+	8	1147	c.998_splice	c.e8+1	p.R333_splice	TUB_uc010rbk.2_Splice_Site_p.R339_splice|TUB_uc001mfy.3_Splice_Site_p.R388_splice	NM_177972	NP_813977	P50607	TUB_HUMAN	Homo sapiens tubby homolog (mouse) (TUB), transcript variant 2, mRNA.	333					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		CGGGAAACTGCGGTACTAGCA	0.552000												
LRRC4	64101	broad.mit.edu	37	7	127669682	127669682	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:127669682G>A	uc003vmk.3	-	1	1149	c.1012C>T	c.(1012-1014)Cgc>Tgc	p.R338C	SND1_uc003vmi.3_Intron|SND1_uc010lle.3_Intron|LRRC4_uc022akv.1_Missense_Mutation_p.R338C	NM_022143	NP_071426	Q9HBW1	LRRC4_HUMAN	Homo sapiens leucine rich repeat containing 4 (LRRC4), mRNA.	338	LRRCT.					cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		ACGAGGTAGCGGCCTCGCATG	0.577000												
ZFR	51663	broad.mit.edu	37	5	32380215	32380215	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:32380215G>A	uc003jhr.1	-	15	2785	c.2705C>T	c.(2704-2706)gCt>gTt	p.A902V	ZFR_uc010ium.1_Missense_Mutation_p.A33V|ZFR_uc011cny.1_Intron	NM_016107	NP_057191	Q96KR1	ZFR_HUMAN	Homo sapiens zinc finger RNA binding protein (ZFR), mRNA.	902	DZF.				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding	p.A902T(2)|p.A902S(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		AGCAGCCAGAGCGTCAAGGCA	0.443000												
EZH2	2146	broad.mit.edu	37	7	148544339	148544339	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:148544339G>A	uc003wfd.2	-	1	245	c.52C>T	c.(52-54)Cgt>Tgt	p.R18C	EZH2_uc022aov.1_Missense_Mutation_p.R18C|EZH2_uc011kug.2_Missense_Mutation_p.R18C|EZH2_uc003wfb.2_Missense_Mutation_p.R18C|EZH2_uc003wfc.2_Missense_Mutation_p.R18C|EZH2_uc011kuh.2_Missense_Mutation_p.R18C|EZH2_uc011kui.2_Missense_Mutation_p.R18C|EZH2_uc011kuj.2_Non-coding_Transcript	NM_001203247	NP_001190176	Q15910	EZH2_HUMAN	Homo sapiens enhancer of zeste homolog 2 (Drosophila) (EZH2), transcript variant 3, mRNA.	18	Interaction with DNMT1, DNMT3A and DNMT3B.				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			GATTTTACACGCTTCCGCCAA	0.378000			Mis		DLBCL							
RYR2	6262	broad.mit.edu	37	1	237664107	237664107	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:237664107C>T	uc001hyl.1	+	20	2420	c.2300C>T	c.(2299-2301)tCg>tTg	p.S767L		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	767	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	p.S765*(1)		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)			CCAAGCATCTCGTTCCGAATT	0.408000												
BEND6	221336	broad.mit.edu	37	6	56880071	56880071	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:56880071A>G	uc010kab.3	+	3	1025	c.439A>G	c.(439-441)Aca>Gca	p.T147A	BEND6_uc003pdi.4_Missense_Mutation_p.T49A	NM_152731	NP_689944	Q5SZJ8	BEND6_HUMAN	Homo sapiens BEN domain containing 6 (BEND6), mRNA.	147										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						ATTTGCCTCAACATGCAGTAA	0.478000												
PDGFRA	5156	broad.mit.edu	37	4	54306788	54306788	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:54306788T>C	uc011bzt.1	+	12	1292	c.1106T>C	c.(1105-1107)tTc>tCc	p.F369S	PDGFRA_uc003haa.3_Intron|PDGFRA_uc003gzy.3_Intron|PDGFRA_uc011bzu.2_Intron|PDGFRA_uc003gzz.3_Intron|PDGFRA_uc003hab.3_Intron|PDGFRA_uc010ign.3_Intron|FIP1L1_uc003hae.3_Intron	NM_030917	NP_112179	P16234	PGFRA_HUMAN	Homo sapiens FIP1 like 1 (S. cerevisiae) (FIP1L1), transcript variant 1, mRNA.	0	Ig-like C2-type 4.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	AAAACTTTTTTCATGTTTTCT	0.323000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)		
ANGPTL7	10218	broad.mit.edu	37	1	11253813	11253813	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:11253813G>A	uc001ase.3	+	2	893	c.654G>A	c.(652-654)cgG>cgA	p.R218R	MTOR_uc001asd.3_Intron	NM_021146	NP_066969	O43827	ANGL7_HUMAN	Homo sapiens angiopoietin-like 7 (ANGPTL7), mRNA.	218	Fibrinogen C-terminal.				response to oxidative stress|signal transduction	extracellular region	receptor binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.39e-06)|COAD - Colon adenocarcinoma(227;0.000244)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0487)		AGCCAACCCGGCTGCGTGTAG	0.612000												
TTN	7273	broad.mit.edu	37	2	179648990	179648990	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:179648990G>A	uc021vsy.1	-	15	2807	c.2582C>T	c.(2581-2583)gCt>gTt	p.A861V	TTN_uc021vsz.1_Missense_Mutation_p.A815V|TTN_uc021vta.1_Missense_Mutation_p.A815V|TTN_uc021vtb.1_Missense_Mutation_p.A815V|TTN_uc002unb.2_Missense_Mutation_p.A861V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	861							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)			CACAGTAGGAGCCTTCACCGA	0.493000												
NANOG	79923	broad.mit.edu	37	12	7945545	7945545	+	Splice_Site	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:7945545G>T	uc009zfy.1	+	2	368	c.152_splice	c.e2-1	p.V51_splice		NM_024865	NP_079141	Q9H9S0	NANOG_HUMAN	Homo sapiens Nanog homeobox (NANOG), mRNA.	51					cell proliferation|embryo development|somatic stem cell maintenance	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14				Kidney(36;0.0872)		GTTCCCAACAGTCTCTCCTCT	0.368000												
TDRD5	163589	broad.mit.edu	37	1	179620046	179620046	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:179620046C>T	uc010pnp.2	+	11	2363	c.1845C>T	c.(1843-1845)tgC>tgT	p.C615C	TDRD5_uc021pfm.1_Silent_p.C615C|TDRD5_uc001gnf.2_Silent_p.C615C|TDRD5_uc021pfn.1_Silent_p.C615C|TDRD5_uc001gnh.2_Silent_p.C170C	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	615					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						AGAAGTTGTGCGGTTTGAAGC	0.368000												
MCF2L2	23101	broad.mit.edu	37	3	182941891	182941891	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:182941891A>C	uc003fli.1	-	18	2293	c.2203T>G	c.(2203-2205)Ttt>Gtt	p.F735V		NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence-like 2 (MCF2L2), mRNA.	735	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			ATTACCCCAAAGTAGGCGCAG	0.408000												
KIAA0355	9710	broad.mit.edu	37	19	34818453	34818453	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:34818453A>G	uc002nvd.4	+	3	1692	c.833A>G	c.(832-834)gAc>gGc	p.D278G		NM_014686	NP_055501	O15063	K0355_HUMAN	Homo sapiens KIAA0355 (KIAA0355), mRNA.	278								p.D278V(2)		breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					ATAAAAATCGACAGTGCTTTG	0.393000												
AMOTL2	51421	broad.mit.edu	37	3	134090186	134090186	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:134090186C>T	uc003eqf.2	-	1	381	c.264G>A	c.(262-264)acG>acA	p.T88T	AMOTL2_uc003eqg.1_Silent_p.T30T|AMOTL2_uc003eqh.1_Silent_p.T30T	NM_016201	NP_057285	Q9Y2J4	AMOL2_HUMAN	Homo sapiens angiomotin like 2 (AMOTL2), mRNA.	30										endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						TGGCTAGCAGCGTGCGCGTCT	0.657000												
WDR62	284403	broad.mit.edu	37	19	36556874	36556874	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:36556874C>T	uc002odd.2	+	3	438	c.347C>T	c.(346-348)gCt>gTt	p.A116V	WDR62_uc002odc.2_Missense_Mutation_p.A116V|WDR62_uc002odb.2_Missense_Mutation_p.A116V	NM_001083961	NP_001077430	O43379	WDR62_HUMAN	Homo sapiens WD repeat domain 62 (WDR62), transcript variant 1, mRNA.	116					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TCTCTCAGTGCTCTGGCCTTC	0.582000												
FBXO43	286151	broad.mit.edu	37	8	101153265	101153265	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:101153265T>C	uc003yjd.3	-	1	1953	c.1217A>G	c.(1216-1218)gAc>gGc	p.D406G	FBXO43_uc003yje.3_Missense_Mutation_p.D372G|FBXO43_uc010mbp.2_Missense_Mutation_p.D406G	NM_001029860	NP_001025031	Q4G163	FBX43_HUMAN	Homo sapiens F-box protein 43 (FBXO43), transcript variant 2, mRNA.	406					meiosis		zinc ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			TTTTTCAGAGTCAGGGTGGAC	0.468000												
AKAP11	11215	broad.mit.edu	37	13	42875031	42875031	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:42875031G>A	uc001uys.2	+	7	2324	c.2149G>A	c.(2149-2151)Gca>Aca	p.A717T		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 11 (AKAP11), mRNA.	717					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		AACAAAGGCAGCAGTTAGTGT	0.403000												
GTPBP4	23560	broad.mit.edu	37	10	1043150	1043150	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:1043150C>T	uc001ift.3	+	4	534	c.463C>T	c.(463-465)Cgt>Tgt	p.R155C	GTPBP4_uc010qac.1_5'UTR|GTPBP4_uc010qad.2_Missense_Mutation_p.R39C|GTPBP4_uc010qae.2_Missense_Mutation_p.R108C	NM_012341	NP_036473	Q9BZE4	NOG1_HUMAN	Homo sapiens GTP binding protein 4 (GTPBP4), mRNA.	155					negative regulation of DNA replication|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		TTTCCTAGTGCGTCAGCATTT	0.383000												
MAP4K1	11184	broad.mit.edu	37	19	39104547	39104547	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:39104547C>T	uc002oix.1	-	7	614	c.506G>A	c.(505-507)cGc>cAc	p.R169H	MAP4K1_uc002oiy.1_Missense_Mutation_p.R169H|MAP4K1_uc010xug.2_5'UTR	NM_007181	NP_009112	Q92918	M4K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 1 (MAP4K1), transcript variant 2, mRNA.	169	Protein kinase.				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GAAAGAGAGGCGTCTGGCCAG	0.622000												
RAB14	51552	broad.mit.edu	37	9	123952946	123952946	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:123952946C>T	uc004blc.3	-	3	626	c.170G>A	c.(169-171)gGc>gAc	p.G57D		NM_016322	NP_057406	P61106	RAB14_HUMAN	Homo sapiens RAB14, member RAS oncogene family (RAB14), mRNA.	57					Golgi to endosome transport|embryo development|fibroblast growth factor receptor signaling pathway|neurotransmitter secretion|protein transport|small GTPase mediated signal transduction	Golgi membrane|Golgi stack|cytosol|early endosome membrane|late endosome|lysosome|membrane fraction|nuclear outer membrane-endoplasmic reticulum membrane network|perinuclear region of cytoplasm|rough endoplasmic reticulum|trans-Golgi network transport vesicle	GDP binding|GTP binding|GTPase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						TATTTTTTGGCCACTAACTTC	0.428000												
FSCN3	29999	broad.mit.edu	37	7	127240362	127240362	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:127240362C>T	uc003vmd.2	+	5	1625	c.1406C>T	c.(1405-1407)gCc>gTc	p.A469V	FSCN3_uc011koh.1_Silent_p.G333G|FSCN3_uc010llc.2_Silent_p.G467G	NM_020369	NP_065102	Q9NQT6	FSCN3_HUMAN	Homo sapiens fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus) (FSCN3), mRNA.	469						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						ACTGTACTGGCCCCCAATGGC	0.507000												
TTYH3	80727	broad.mit.edu	37	7	2698584	2698584	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:2698584G>A	uc003smp.3	+	12	1622	c.1435G>A	c.(1435-1437)Gct>Act	p.A479T	TTYH3_uc010ksn.3_Missense_Mutation_p.A199T|TTYH3_uc003smq.3_Missense_Mutation_p.A308T	NM_025250	NP_079526	Q9C0H2	TTYH3_HUMAN	Homo sapiens tweety homolog 3 (Drosophila) (TTYH3), mRNA.	479						chloride channel complex|plasma membrane	chloride channel activity			kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		GAGCCAGAACGCTAATTTCCA	0.662000												
CNR1	1268	broad.mit.edu	37	6	88854116	88854116	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:88854116G>A	uc010kbz.3	-	1	1008	c.878C>T	c.(877-879)gCg>gTg	p.A293V	CNR1_uc011dzr.2_Missense_Mutation_p.A293V|CNR1_uc011dzs.2_Missense_Mutation_p.A293V|CNR1_uc003pmq.4_Missense_Mutation_p.A293V|CNR1_uc011dzt.2_Missense_Mutation_p.A293V|CNR1_uc010kca.3_Missense_Mutation_p.A260V|CNR1_uc021zco.1_Missense_Mutation_p.A293V	NM_016083	NP_057167	P21554	CNR1_HUMAN	Homo sapiens cannabinoid receptor 1 (brain) (CNR1), transcript variant 1, mRNA.	293					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	ATACATGTACGCATACACGAT	0.507000												
MUC5B	727897	broad.mit.edu	37	11	1281031	1281031	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:1281031G>A	uc001lta.3	+	44	16818	c.16759G>A	c.(16759-16761)Gtc>Atc	p.V5587I		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	5587	VWFC 3.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TGGGGAGTGCGTCCAGACCGC	0.667000												
STRBP	55342	broad.mit.edu	37	9	125941475	125941475	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:125941475C>T	uc004bns.3	-	3	477	c.35G>A	c.(34-36)cGc>cAc	p.R12H	STRBP_uc004bnt.3_5'UTR|STRBP_uc004bnu.3_5'UTR|STRBP_uc004bnv.3_Missense_Mutation_p.R12H	NM_018387	NP_001164608	Q96SI9	STRBP_HUMAN	Homo sapiens spermatid perinuclear RNA binding protein (STRBP), transcript variant 1, mRNA.	12					multicellular organismal development	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						CATAACATGGCGATCATCATT	0.358000												
ADD2	119	broad.mit.edu	37	2	70933382	70933382	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:70933382G>A	uc021vjc.1	-	2	424	c.159C>T	c.(157-159)cgC>cgT	p.R53R	ADD2_uc010fds.2_Non-coding_Transcript|ADD2_uc002sgy.3_Silent_p.R53R|ADD2_uc002sgz.3_Silent_p.R53R|ADD2_uc010fdt.2_Silent_p.R53R|ADD2_uc002shc.2_Silent_p.R53R|ADD2_uc010fdu.2_Silent_p.R69R	NM_001185054	NP_001608	P35612	ADDB_HUMAN	Homo sapiens adducin 2 (beta) (ADD2), transcript variant 5, mRNA.	53					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	F-actin capping protein complex|cytoplasm|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						TCATGGTGACGCGCTTCTTCT	0.647000												
ERC1	23085	broad.mit.edu	37	12	1137664	1137664	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:1137664G>T	uc001qjb.2	+	1	836	c.595G>T	c.(595-597)Gcc>Tcc	p.A199S	ERC1_uc001qiz.2_Non-coding_Transcript|ERC1_uc001qjc.2_Missense_Mutation_p.A199S|ERC1_uc001qja.2_Non-coding_Transcript|ERC1_uc001qjd.2_Non-coding_Transcript|ERC1_uc001qjf.2_Missense_Mutation_p.A199S	NM_178040	NP_829884	Q8IUD2	RB6I2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 1 (ERC1), transcript variant epsilon, mRNA.	199					I-kappaB phosphorylation|multicellular organismal development|positive regulation of NF-kappaB transcription factor activity|positive regulation of anti-apoptosis|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			GAAGGAACGAGCCCTGAGAAA	0.433000												
ATP4A	495	broad.mit.edu	37	19	36050941	36050941	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:36050941G>A	uc002oal.1	-	6	851	c.822C>T	c.(820-822)gaC>gaT	p.D274D	ATP4A_uc010eee.1_5'Flank	NM_000704	NP_000695	P20648	ATP4A_HUMAN	Homo sapiens ATPase, H+/K+ exchanging, alpha polypeptide (ATP4A), mRNA.	274					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	p.G273G(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	TGATGGTGCGGTCGCCCGTGT	0.647000												
LHFPL4	375323	broad.mit.edu	37	3	9594078	9594078	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:9594078C>T	uc003bry.3	-	1	572	c.286G>A	c.(286-288)Gcc>Acc	p.A96T		NM_198560	NP_940962	Q7Z7J7	LHPL4_HUMAN	Homo sapiens lipoma HMGIC fusion partner-like 4 (LHFPL4), mRNA.	96						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1)	10	Medulloblastoma(99;0.227)					ACGAAGAAGGCGGCCGCCTTG	0.632000												
SH3KBP1	30011	broad.mit.edu	37	X	19560086	19560086	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:19560086G>A	uc004czm.3	-	15	2165	c.1849C>T	c.(1849-1851)Cgc>Tgc	p.R617C	SH3KBP1_uc011mje.2_Missense_Mutation_p.R356C|SH3KBP1_uc011mjf.2_Missense_Mutation_p.R379C|SH3KBP1_uc004czl.3_Missense_Mutation_p.R580C|SH3KBP1_uc010nfm.3_Missense_Mutation_p.R62C	NM_031892	NP_114098	Q96B97	SH3K1_HUMAN	Homo sapiens SH3-domain kinase binding protein 1 (SH3KBP1), transcript variant 1, mRNA.	617					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						CTCAGCTCGCGGACCTGTGTC	0.632000												
MACF1	23499	broad.mit.edu	37	1	39951352	39951352	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:39951352C>T	uc021olw.1	+	63	17703	c.17703C>T	c.(17701-17703)agC>agT	p.S5901S	MACF1_uc021ols.1_Silent_p.S5390S|MACF1_uc021olt.1_Silent_p.S5393S|MACF1_uc001cde.2_Silent_p.S307S|MACF1_uc001cdg.3_3'UTR|MACF1_uc001cdh.3_3'UTR	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	7351					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|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)			CAGAAAGCAGCGCTGCAGGGG	0.577000												
ERI1	90459	broad.mit.edu	37	8	8869247	8869247	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:8869247G>A	uc003wsk.2	+	2	743	c.483G>A	c.(481-483)acG>acA	p.T161T		NM_153332	NP_699163	Q8IV48	ERI1_HUMAN	Homo sapiens exoribonuclease 1 (ERI1), mRNA.	161	Exonuclease.				gene silencing by RNA|rRNA 3'-end processing	cytoplasm|histone pre-mRNA 3'end processing complex|nucleolus	3'-5' exonuclease activity|histone pre-mRNA stem-loop binding|metal ion binding|rRNA binding|ribosome binding			NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11					Adenosine monophosphate(DB00131)	TACTGAATACGCATACTTTAG	0.328000												
SH3TC1	54436	broad.mit.edu	37	4	8230088	8230088	+	Silent	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:8230088C>T	uc003gkv.4	+	11	2768	c.2667C>T	c.(2665-2667)gcC>gcT	p.A889A	SH3TC1_uc003gkw.4_Silent_p.A813A|SH3TC1_uc003gkx.4_Non-coding_Transcript|SH3TC1_uc003gky.3_5'Flank	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 1 (SH3TC1), mRNA.	889							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						ACTACCGCGCCCTGCGGGTGG	0.697000												
ASB4	51666	broad.mit.edu	37	7	95157168	95157168	+	Silent	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:95157168G>A	uc011kij.2	+	2	602	c.531G>A	c.(529-531)acG>acA	p.T177T	ASB4_uc003unx.3_Silent_p.T177T	NM_016116	NP_057200	Q9Y574	ASB4_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 4 (ASB4), transcript variant 1, mRNA.	177					intracellular signal transduction			p.T177T(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			ATGAGGAGACGCCCTTGCACA	0.498000											OREG0018172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ACAN	176	broad.mit.edu	37	15	89382100	89382100	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:89382100C>T	uc010upo.1	+	2	651	c.277C>T	c.(277-279)Cgc>Tgc	p.R93C	ACAN_uc002bmx.3_Missense_Mutation_p.R93C|ACAN_uc010upp.1_Missense_Mutation_p.R93C|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	93					cell adhesion		hyaluronic acid binding|sugar binding	p.R93R(1)|p.R93H(1)		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)			CACTGAAGGGCGCGTGCGGGT	0.622000												
LMO7	4008	broad.mit.edu	37	13	76408509	76408509	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:76408509G>A	uc021rkq.1	+	16	3547	c.3212G>A	c.(3211-3213)cGc>cAc	p.R1071H	LMO7_uc010thv.2_Missense_Mutation_p.R789H|LMO7_uc001vjt.1_Missense_Mutation_p.R737H|LMO7_uc001vjv.3_Missense_Mutation_p.R838H|LMO7_uc010thw.2_Missense_Mutation_p.R688H|LMO7_uc001vjw.1_Missense_Mutation_p.R744H	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.	1123	PDZ.					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		GATGTGAGGCGCTATGGAAAG	0.448000												
PRPSAP2	5636	broad.mit.edu	37	17	18781095	18781095	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:18781095A>G	uc002gup.2	+	5	646	c.324A>G	c.(322-324)atA>atG	p.I108M	PRPSAP2_uc002guo.2_Missense_Mutation_p.I22M|PRPSAP2_uc010vyi.2_Missense_Mutation_p.I68M|PRPSAP2_uc010vyj.2_Missense_Mutation_p.I22M|PRPSAP2_uc010vyk.2_Missense_Mutation_p.I108M	NM_002767	NP_002758	O60256	KPRB_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase-associated protein 2 (PRPSAP2), transcript variant 1, mRNA.	108					nucleotide biosynthetic process		enzyme inhibitor activity|magnesium ion binding|ribose phosphate diphosphokinase activity	p.V107V(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						TTGGCGTGATACCCTACTTTC	0.463000												
NSD1	64324	broad.mit.edu	37	5	176638555	176638555	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:176638555G>A	uc003mfr.4	+	4	3293	c.3155G>A	c.(3154-3156)cGc>cAc	p.R1052H	NSD1_uc003mft.4_Missense_Mutation_p.R783H|NSD1_uc003mfs.1_Missense_Mutation_p.R949H|NSD1_uc011dfx.2_Missense_Mutation_p.R700H	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Homo sapiens nuclear receptor binding SET domain protein 1 (NSD1), transcript variant 2, mRNA.	1052					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AAGACCGAGCGCAAAAGAAAA	0.478000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)		
DNAJC11	55735	broad.mit.edu	37	1	6713014	6713014	+	Splice_Site	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:6713013_6713013TA>T	uc001aof.2	-	6	614	c.508_splice	c.e6-1	p.A170_splice	DNAJC11_uc001aog.2_Splice_Site_p.A170_splice|DNAJC11_uc010nzu.1_Splice_Site_p.A80_splice	NM_018198	NP_060668	Q9NVH1	DJC11_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 11 (DNAJC11), mRNA.	170					protein folding		heat shock protein binding|unfolded protein binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		CAAGGGTGCCTAAAAATGGTA	0.488												
AKNAD1	254268	broad.mit.edu	37	1	109369927	109369927	+	Splice_Site	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:109369926_109369926TA>T	uc001dwa.3	-	11	2108	c.1839_splice	c.e11-1	p.W613_splice	AKNAD1_uc010ovb.2_Splice_Site_p.W320_splice|AKNAD1_uc001dwb.3_Splice_Site	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN	Homo sapiens AKNA domain containing 1 (AKNAD1), mRNA.	613										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TTTTGCTTCCTAAAAAAAGGT	0.378												
ITSN2	50618	broad.mit.edu	37	2	24524111	24524111	+	Splice_Site	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:24524110_24524110TA>T	uc002rfe.2	-	11	1254	c.996_splice	c.e11-1	p.R332_splice	ITSN2_uc002rff.2_Splice_Site_p.R332_splice|ITSN2_uc002rfg.3_Splice_Site_p.R332_splice|ITSN2_uc010eyd.2_Splice_Site_p.R357_splice	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	Homo sapiens intersectin 2 (ITSN2), transcript variant 1, mRNA.	332	EH 2.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity|calcium ion binding			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)					TTTCCTCCTCTAAAAAAATCA	0.368												
CEBPZ	10153	broad.mit.edu	37	2	37430154	37430154	+	Splice_Site	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:37430153_37430153TA>T	uc002rpz.3	-	14	2915	c.2885_splice	c.e14-1	p.G962_splice	LOC100505876_uc002rpy.2_3'UTR|LOC100505876_uc002rpx.2_3'UTR	NM_005760	NP_005751	Q03701	CEBPZ_HUMAN	Homo sapiens CCAAT/enhancer binding protein (C/EBP), zeta (CEBPZ), mRNA.	962					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(1)		breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				TTCTTGGCCCTAAAAAAAATT	0.269												
CEBPZ	10153	broad.mit.edu	37	2	37443454	37443461	+	Splice_Site	DEL	CATACCTT	CATACCTT	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:37443453_37443460GCATACCTT>G	uc002rpz.3	-	7	2341	c.2311_splice	c.e7+1	p.E771_splice		NM_005760	NP_005751	Q03701	CEBPZ_HUMAN	Homo sapiens CCAAT/enhancer binding protein (C/EBP), zeta (CEBPZ), mRNA.	771					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				CTAAATAGAAGCATACCTTTGCCTTTAT	0.317												
THADA	63892	broad.mit.edu	37	2	43799004	43799004	+	Splice_Site	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:43799003_43799003TA>T	uc002rsw.4	-	13	2261	c.1909_splice	c.e13-1	p.V637_splice	THADA_uc010far.3_5'Flank|THADA_uc002rsx.4_Splice_Site_p.V637_splice|THADA_uc002rsy.4_Splice_Site|THADA_uc010fas.1_Splice_Site|THADA_uc002rsz.3_Splice_Site_p.V347_splice|THADA_uc010fat.1_5'Flank|THADA_uc002rta.2_Splice_Site_p.V347_splice|THADA_uc002rtb.1_Splice_Site_p.V637_splice|THADA_uc002rtc.4_Splice_Site_p.V637_splice|THADA_uc002rtd.3_Splice_Site_p.V637_splice	NM_001083953	NP_071348	Q6YHU6	THADA_HUMAN	Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA.	637							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TATCCTTACCTAAAAAACATC	0.318												
PSME4	23198	broad.mit.edu	37	2	54167140	54167140	+	Splice_Site	DEL	G	G	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:54167139_54167139TG>T	uc002rxp.2	-	4	557	c.501_splice	c.e4-1	p.N167_splice	PSME4_uc010yop.1_Splice_Site_p.N53_splice|PSME4_uc010yoq.1_Splice_Site|PSME4_uc010fbu.1_Splice_Site|PSME4_uc010fbv.1_Intron|PSME4_uc021vho.1_Intron	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	167					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TCTACAGAACTGGGGGGGGAA	0.348												
RBM43	375287	broad.mit.edu	37	2	152112048	152112049	+	Splice_Site	INS	-	-	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:152112047_152112048C>CT	uc002txh.3	-	2	362	c.214_splice	c.e2+1	p.V72_splice		NM_198557	NP_940959	Q6ZSC3	RBM43_HUMAN	Homo sapiens RNA binding motif protein 43 (RBM43), mRNA.	72	RRM.						RNA binding|nucleotide binding			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.131)		TTGGAAATACCTTTTTTTTCTT	0.287												
MYLK	4638	broad.mit.edu	37	3	123368044	123368044	+	Splice_Site	DEL	G	G	-	rs138786404		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:123368043_123368043TG>T	uc003ego.3	-	25	4571	c.4289_splice	c.e25-1	p.E1430_splice	MYLK_uc010hrr.3_Splice_Site|MYLK_uc011bjv.2_Splice_Site_p.E230_splice|MYLK_uc011bjw.2_Splice_Site_p.E1430_splice|MYLK_uc003egp.3_Splice_Site_p.E1361_splice|MYLK_uc003egq.3_Splice_Site_p.E1430_splice|MYLK_uc003egr.3_Splice_Site_p.E1361_splice|MYLK_uc003egs.3_Splice_Site_p.E1254_splice	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	1430	Actin-binding (calcium/calmodulin- insensitive) (By similarity).				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CCTTCGGCTCTGGGGGGGGCA	0.622												
TCTEX1D2	255758	broad.mit.edu	37	3	196022943	196022943	+	Splice_Site	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:196022942_196022942TA>T	uc003fwi.3	-	4	460	c.318_splice	c.e4-1	p.F106_splice		NM_152773	NP_689986	Q8WW35	TC1D2_HUMAN	Homo sapiens Tctex1 domain containing 2 (TCTEX1D2), mRNA.	106							protein binding			breast(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)	7	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		GAAGCCATGCTAAAAAATCCA	0.368												
ALB	213	broad.mit.edu	37	4	74280753	74280753	+	Splice_Site	DEL	T	T	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:74280752_74280752GT>G	uc003hgs.4	+	9	1132	c.1059_splice	c.e9-1	p.M353_splice	ALB_uc011cbe.2_Splice_Site_p.M32_splice|ALB_uc003hgw.4_Splice_Site_p.M161_splice|ALB_uc011cbf.2_Splice_Site_p.M243_splice	NM_000477	NP_000468	P02768	ALBU_HUMAN	Homo sapiens albumin (ALB), mRNA.	353	Albumin 2.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	DNA binding|antioxidant activity|chaperone binding|copper ion binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	TCTTAATTAGGTTTTTGTATG	0.358												
DDX60	55601	broad.mit.edu	37	4	169182016	169182016	+	Splice_Site	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:169182015_169182015CA>C	uc003irp.3	-	25	3690	c.3398_splice	c.e25+1	p.L1133_splice		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA.	1133							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		AAATAACTTACAAAAAAAATA	0.388												
KIAA1324L	222223	broad.mit.edu	37	7	86542523	86542523	+	Splice_Site	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:86542522_86542522TA>T	uc011kha.2	-	14	1917	c.1732_splice	c.e14-1	p.N578_splice	KIAA1324L_uc003uie.3_Splice_Site_p.N411_splice|KIAA1324L_uc011kgz.2_Splice_Site_p.N464_splice|KIAA1324L_uc003uif.2_Splice_Site_p.N330_splice	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	Homo sapiens KIAA1324-like (KIAA1324L), transcript variant 1, mRNA.	578						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					CCGTCTATTCTAAAAAAAAGA	0.413												
SGK3	23678	broad.mit.edu	37	8	67752239	67752239	+	Splice_Site	DEL	T	T	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:67752238_67752238CT>C	uc003xwp.3	+	13	1373	c.742_splice	c.e13-1	p.L248_splice	SGK3_uc003xwr.3_Splice_Site_p.L248_splice|SGK3_uc003xwt.3_Splice_Site_p.L248_splice|SGK3_uc003xwu.3_Splice_Site_p.L248_splice	NM_001204173	NP_001191102	Q96BR1	SGK3_HUMAN	Homo sapiens C8orf44-SGK3 readthrough (C8orf44-SGK3), mRNA.	248	Protein kinase.				cell communication|response to stress	cytoplasmic membrane-bounded vesicle|early endosome	ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			AATTTGACAGCTTTTTTTCCA	0.403												
UBAP2	55833	broad.mit.edu	37	9	33944640	33944640	+	Splice_Site	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:33944639_33944639TA>T	uc003ztq.1	-	14	1384	c.1271_splice	c.e14-1	p.D424_splice	UBAP2_uc011loc.1_Splice_Site_p.D333_splice|UBAP2_uc011lod.1_Splice_Site_p.D157_splice|UBAP2_uc011loe.1_Splice_Site_p.D179_splice|UBAP2_uc011lof.1_Splice_Site_p.D349_splice|UBAP2_uc011log.1_Splice_Site_p.D370_splice|UBAP2_uc003ztr.2_Splice_Site_p.D296_splice|UBAP2_uc003zts.3_Splice_Site_p.D57_splice	NM_018449	NP_060919	Q5T6F2	UBAP2_HUMAN	Homo sapiens ubiquitin associated protein 2 (UBAP2), mRNA.	424										endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		ATTTGAAGTCTAAAAAAAGTA	0.438												
C9orf80	58493	broad.mit.edu	37	9	115456516	115456516	+	Splice_Site	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:115456515_115456515TA>T	uc004bgg.3	-	3	203	c.26_splice	c.e3-1	p.G9_splice	C9orf80_uc010muk.3_Splice_Site	NM_021218	NP_067041	Q9NRY2	SOSSC_HUMAN	Homo sapiens chromosome 9 open reading frame 80 (C9orf80), mRNA.	9					DNA repair|response to ionizing radiation	SOSS complex	protein binding	p.?(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	4						TTTGAAAACCTAAAAAAAAGA	0.348												
FRA10AC1	118924	broad.mit.edu	37	10	95459788	95459788	+	Splice_Site	DEL	T	T	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:95459787_95459787CT>C	uc001kiz.2	-	2	275	c.77_splice	c.e2+1	p.R26_splice	FRA10AC1_uc001kiv.2_Splice_Site|FRA10AC1_uc001kjb.1_Splice_Site_p.R26_splice|FRA10AC1_uc009xuh.1_Splice_Site_p.R27_splice	NM_145246	NP_660289	Q70Z53	F10C1_HUMAN	Homo sapiens fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1 (FRA10AC1), mRNA.	26						nucleus	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(1)	14						AATTACTTACCTTTTTTTCCT	0.308												
DDX6	1656	broad.mit.edu	37	11	118629614	118629615	+	Splice_Site	INS	-	-	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:118629613_118629614T>TG	uc001pub.2	-	9	1226	c.865_splice	c.e9-1	p.N289_splice	DDX6_uc001pua.2_5'UTR|DDX6_uc001puc.2_Splice_Site_p.N289_splice	NM_004397	NP_004388	P26196	DDX6_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 6 (DDX6), mRNA.	289	Helicase ATP-binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|stress granule	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|protein binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		ATGGGAATTCTGGGGGGGGAGC	0.426			T	IGH@	B-NHL							
SLC38A2	54407	broad.mit.edu	37	12	46758342	46758342	+	Splice_Site	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:46758341_46758341TA>T	uc001rpg.3	-	10	1146	c.706_splice	c.e10-1	p.V236_splice	SLC38A2_uc010sli.2_Splice_Site_p.V74_splice|SLC38A2_uc001rph.3_Splice_Site_p.V136_splice	NM_018976	NP_061849	Q96QD8	S38A2_HUMAN	Homo sapiens solute carrier family 38, member 2 (SLC38A2), mRNA.	236					cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		GCAAATGACCTAAAAATATAT	0.333												
CLIP1	6249	broad.mit.edu	37	12	122773037	122773037	+	Splice_Site	DEL	T	T	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:122773036_122773036CT>C	uc001ucg.2	-	21	3802	c.3647_splice	c.e21+1	p.R1216_splice	CLIP1_uc001uch.1_Splice_Site_p.R1205_splice|CLIP1_uc001uci.1_Splice_Site_p.R1170_splice|CLIP1_uc001ucj.1_Splice_Site_p.R791_splice	NM_001247997	NP_001234926	P30622	CLIP1_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 1 (CLIP1), transcript variant 3, mRNA.	1216					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		GAAAGCTTACCTTTTTTTCAT	0.328												
FAH	2184	broad.mit.edu	37	15	80464493	80464493	+	Splice_Site	DEL	T	T	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:80464492_80464492CT>C	uc002bfm.2	+	8	771	c.607_splice	c.e8-1	p.A203_splice	FAH_uc002bfn.2_Splice_Site_p.A133_splice	NM_000137	NP_000128	P16930	FAAA_HUMAN	Homo sapiens fumarylacetoacetate hydrolase (fumarylacetoacetase) (FAH), mRNA.	203					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	fumarylacetoacetase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCATGTAAGGCTTTTTTTGTA	0.498									Tyrosinemia, type 1			
PSTPIP2	9050	broad.mit.edu	37	18	43595906	43595906	+	Splice_Site	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:43595905_43595905TA>T	uc002lbp.4	-	4	309	c.213_splice	c.e4-1	p.N71_splice	PSTPIP2_uc002lbq.4_Splice_Site_p.N71_splice	NM_024430	NP_077748	Q9H939	PPIP2_HUMAN	Homo sapiens proline-serine-threonine phosphatase interacting protein 2 (PSTPIP2), mRNA.	71	FCH.					membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	17						TTCAGGGTGCTAAAAAAAACA	0.383												
MUC5B	727897	broad.mit.edu	37	11	1262591	1262591	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:1262591delC	uc009ycr.1	+	47	6686	c.6560delC	c.(6559-6561)ACCfs	p.T2187fs	MUC5B_uc001ltb.2_Frame_Shift_Del_p.T1497fs	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	1494	7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GTGACGGTCACCCCCTCGGCC	0.637												
OR5D14	219436	broad.mit.edu	37	11	55563305	55563305	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:55563305delA	uc010rim.1	+	1	274	c.274delA	c.(274-276)AAAfs	p.K92fs		NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D,	92	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3		all_epithelial(135;0.196)				AATGGCAGATAAAAGCATCTT	0.443												
FADS1	3992	broad.mit.edu	37	11	61572224	61572224	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:61572224delG	uc010rlm.1	-	7	1114	c.986delC	c.(985-987)CCAfs	p.P329fs	FADS1_uc001nsh.2_Frame_Shift_Del_p.P188fs|FADS1_uc010rln.1_Frame_Shift_Del_p.P188fs	NM_013402	NP_037534	O60427	FADS1_HUMAN	fatty acid desaturase 1	272	Helical; (Potential).				cell-cell signaling|cellular response to starvation|electron transport chain|icosanoid biosynthetic process|phospholipid biosynthetic process|regulation of cell differentiation|regulation of transcription, DNA-dependent|transport	endoplasmic reticulum membrane|integral to membrane|microsome	C-5 sterol desaturase activity|heme binding|protein binding			central_nervous_system(1)	1					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CAGCAAGGCTGGGGGCCCAAC	0.527												
MON2	23041	broad.mit.edu	37	12	62946678	62946678	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:62946678delT	uc001sre.2	+	24	3325	c.2934delT	c.(2932-2934)TATfs	p.Y978fs	MON2_uc009zqj.2_Frame_Shift_Del_p.Y978fs|MON2_uc010ssl.1_Frame_Shift_Del_p.Y906fs|MON2_uc010ssm.1_Frame_Shift_Del_p.Y955fs|MON2_uc010ssn.1_Frame_Shift_Del_p.Y978fs|MON2_uc001srf.2_Frame_Shift_Del_p.Y741fs	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	MON2 homolog	979					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			central_nervous_system(2)	2			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		TTTCAGATTATTTTTTCCAAA	0.333												
ASCL4	121549	broad.mit.edu	37	12	108169097	108169097	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:108169097delC	uc001tmr.2	+	1	936	c.105delC	c.(103-105)GACfs	p.D35fs		NM_203436	NP_982260	Q6XD76	ASCL4_HUMAN	achaete-scute complex-like 4	34					regulation of transcription from RNA polymerase II promoter|skin development|transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)	1						CGCGGAGGGACCCCCTCAGGG	0.741												
PIAS1	8554	broad.mit.edu	37	15	68438921	68438921	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:68438921delA	uc002aqz.2	+	6	807	c.711delA	c.(709-711)ACAfs	p.T237fs	PIAS1_uc010ujx.1_Frame_Shift_Del_p.T237fs	NM_016166	NP_057250	O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	237	PINIT.				androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent	nuclear speck	androgen receptor binding|DNA binding|enzyme binding|SUMO ligase activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)|lung(1)	2						TTCCACCTACAAAAAATGGCG	0.378												
MSLN	10232	broad.mit.edu	37	16	815527	815527	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:815527delC	uc002cjw.1	+	9	756	c.705delC	c.(703-705)GGCfs	p.G235fs	MSLN_uc002cjt.1_Frame_Shift_Del_p.G235fs|MSLN_uc002cju.1_Frame_Shift_Del_p.G235fs|MSLN_uc010brd.1_Frame_Shift_Del_p.G234fs|MSLN_uc002cjv.1_Frame_Shift_Del_p.G235fs|MSLN_uc002cjx.1_Frame_Shift_Del_p.G235fs|MSLN_uc002cjy.1_5'Flank	NM_013404	NP_037536	Q13421	MSLN_HUMAN	mesothelin isoform 2 preproprotein	235					cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane				pancreas(1)	1		Hepatocellular(780;0.00335)				GTCTGCACAGCCCCCCGTCGA	0.706												
GTF3C1	2975	broad.mit.edu	37	16	27509009	27509009	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:27509009delT	uc002dov.1	-	14	2339	c.2299delA	c.(2299-2301)AGTfs	p.S767fs	GTF3C1_uc002dou.2_Frame_Shift_Del_p.S767fs	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	767						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5						TTATTATCACTTTTTTTCATC	0.433												
ITGAM	3684	broad.mit.edu	37	16	31342999	31342999	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:31342999delG	uc002ebq.2	+	30	3528	c.3430delG	c.(3430-3432)GGGfs	p.G1144fs	ITGAM_uc002ebr.2_Frame_Shift_Del_p.G1145fs|ITGAM_uc010can.2_Frame_Shift_Del_p.G550fs	NM_000632	NP_000623	P11215	ITAM_HUMAN	integrin alpha M isoform 2 precursor	1144	Cytoplasmic (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			kidney(1)	1						GATGAGTGAAGGGGGTCCCCC	0.672												
DNAJC7	7266	broad.mit.edu	37	17	40134398	40134398	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:40134398delT	uc002hyo.2	-	11	1343	c.1106delA	c.(1105-1107)AATfs	p.N369fs	DNAJC7_uc010cxu.2_Frame_Shift_Del_p.N313fs|DNAJC7_uc010cxv.2_Intron|DNAJC7_uc010wgb.1_Frame_Shift_Del_p.N313fs|DNAJC7_uc010wgc.1_Frame_Shift_Del_p.N227fs|DNAJC7_uc002hyp.2_Frame_Shift_Del_p.N313fs	NM_003315	NP_003306	Q99615	DNJC7_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 7	369					chaperone cofactor-dependent protein refolding	cytoplasm|cytoskeleton|nucleus	heat shock protein binding|unfolded protein binding			ovary(1)	1		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)				CAGCTGCGCATTTTTTAGGAG	0.468												
PLCD3	113026	broad.mit.edu	37	17	43195797	43195797	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:43195797delC	uc002iib.2	-	6	1090	c.976delG	c.(976-978)GCTfs	p.A326fs		NM_133373	NP_588614	Q8N3E9	PLCD3_HUMAN	phospholipase C delta 3	326					intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(2)|lung(1)	3					Phosphatidylserine(DB00144)	TCCAAGGCAGCCCCCTCCGGC	0.572												
HSF5	124535	broad.mit.edu	37	17	56565340	56565340	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:56565340delC	uc002iwi.1	-	1	420	c.296delG	c.(295-297)GGCfs	p.G99fs		NM_001080439	NP_001073908	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	99	By similarity.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CGGTTTGCCGCCCCCCGGCCC	0.637												
FHOD3	80206	broad.mit.edu	37	18	34205516	34205516	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:34205516delC	uc002kzt.1	+	10	1097	c.1000delC	c.(1000-1002)CCCfs	p.P334fs	FHOD3_uc002kzr.1_Frame_Shift_Del_p.P334fs|FHOD3_uc002kzs.1_Frame_Shift_Del_p.P334fs|FHOD3_uc002kzu.1_Frame_Shift_Del_p.P159fs|FHOD3_uc010dmz.1_Frame_Shift_Del_p.P87fs	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	334	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			skin(3)|large_intestine(2)|breast(2)|ovary(1)	8		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CACGGAGCCACCCCCCAGTGG	0.677												
KIAA0427	9811	broad.mit.edu	37	18	46163043	46163043	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:46163043delC	uc002ldc.2	+	3	524	c.239delC	c.(238-240)GCCfs	p.A80fs	KIAA0427_uc002ldd.2_Frame_Shift_Del_p.A80fs	NM_014772	NP_055587	O43310	CTIF_HUMAN	hypothetical protein LOC9811 isoform 1	80	Interaction with NCBP1/CBP80.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding				0						CGAGGGCGAGCCCCCCCACAG	0.642												
ZCCHC2	54877	broad.mit.edu	37	18	60242530	60242530	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr18:60242530delT	uc002lip.3	+	13	3216	c.3216delT	c.(3214-3216)CCTfs	p.P1072fs	ZCCHC2_uc002lio.2_RNA|ZCCHC2_uc002liq.2_Frame_Shift_Del_p.P542fs	NM_017742	NP_060212	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	1072					cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding			lung(1)|prostate(1)	2						ACCAACTTCCTTTTTTTCTGC	0.488												
RAVER1	125950	broad.mit.edu	37	19	10439650	10439651	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:10439650_10439651insG	uc002moa.2	-	3	554_555	c.474_475insC	c.(472-477)CCCAGCfs	p.P158fs		NM_133452	NP_597709	Q8IY67	RAVR1_HUMAN	RAVER1	141_142	RRM 2.					cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			TGTGTGAGGCTGGGGGGCAGGT	0.649												
ZNF71	58491	broad.mit.edu	37	19	57132721	57132721	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:57132721delG	uc002qnm.3	+	3	304	c.66delG	c.(64-66)ACGfs	p.T22fs		NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	22						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GGGAGGCCACGGGGGGACCCA	0.557												
CHAC2	494143	broad.mit.edu	37	2	53995031	53995031	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:53995031delT	uc002rxk.1	+	1	103	c.8delT	c.(7-9)GTTfs	p.V3fs	ASB3_uc002rxg.1_Intron|ASB3_uc002rxh.1_Intron|ASB3_uc002rxi.3_Intron|ASB3_uc010yoo.1_Intron	NM_001008708	NP_001008708	Q8WUX2	CHAC2_HUMAN	ChaC, cation transport regulator-like 2	3											0			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AAGATGTGGGTTTTTGGTTAC	0.622											OREG0014616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CBS	875	broad.mit.edu	37	21	44492285	44492285	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr21:44492285delG	uc002zcu.2	-	3	264	c.19delC	c.(19-21)CAGfs	p.Q7fs	CBS_uc002zct.2_Frame_Shift_Del_p.Q7fs|CBS_uc002zcw.3_Frame_Shift_Del_p.Q7fs|CBS_uc002zcv.2_Frame_Shift_Del_p.Q7fs	NM_000071	NP_000062	P35520	CBS_HUMAN	cystathionine-beta-synthase	7					cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding				0					L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)	ACTTCTGCCTGGGGGGTCTCA	0.662												
KRTAP10-9	386676	broad.mit.edu	37	21	46047615	46047615	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr21:46047615delC	uc002zfp.3	+	1	576	c.527delC	c.(526-528)TCCfs	p.S176fs	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198690	NP_941963	P60411	KR109_HUMAN	keratin associated protein 10-9	176	16.|25 X 5 AA repeats of C-C-X(3).					keratin filament					0						TGCACTTCCTCCCCCTGCCAG	0.552												
FYCO1	79443	broad.mit.edu	37	3	45965219	45965221	+	In_Frame_Del	DEL	CTC	CTC	-	rs148020105		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:45965219_45965221delCTC	uc003cpb.3	-	17	4494_4496	c.4288_4290delGAG	c.(4288-4290)GAGdel	p.E1430del	FYCO1_uc011bal.1_In_Frame_Del_p.E1450del	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	1430	GOLD.				transport	integral to membrane	metal ion binding|protein binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CCTGGATGTTCTCCTTGTGGGAG	0.581												
DVL3	1857	broad.mit.edu	37	3	183888381	183888381	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:183888381delC	uc003fms.2	+	15	2129	c.1989delC	c.(1987-1989)GGCfs	p.G663fs	DVL3_uc011bqw.1_Frame_Shift_Del_p.G646fs|DVL3_uc003fmt.2_Frame_Shift_Del_p.G334fs|DVL3_uc003fmu.2_Frame_Shift_Del_p.G495fs	NM_004423	NP_004414	Q92997	DVL3_HUMAN	dishevelled 3	663					canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			ovary(1)|lung(1)|breast(1)	3	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			CTCTCTACGGCCCCCCCATGC	0.736												
AFP	174	broad.mit.edu	37	4	74313372	74313372	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:74313372delA	uc003hgz.1	+	8	1084	c.1037delA	c.(1036-1038)GAAfs	p.E346fs	AFP_uc003hha.1_Frame_Shift_Del_p.E346fs|AFP_uc011cbg.1_Frame_Shift_Del_p.E120fs	NM_001134	NP_001125	P02771	FETA_HUMAN	alpha-fetoprotein precursor	346	Albumin 2.				transport		metal ion binding			ovary(1)	1	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TCTTCAGGGGAAAAAAATATC	0.338									Alpha-Fetoprotein_Hereditary_Persistence_of			
TNIP3	79931	broad.mit.edu	37	4	122075764	122075764	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:122075764delT	uc010ing.2	-	5	630	c.434delA	c.(433-435)AATfs	p.N145fs	TNIP3_uc010inh.2_Frame_Shift_Del_p.N145fs|TNIP3_uc011cgj.1_Frame_Shift_Del_p.N203fs|TNIP3_uc010ini.2_Frame_Shift_Del_p.N145fs	NM_024873	NP_079149	Q96KP6	TNIP3_HUMAN	TNFAIP3 interacting protein 3	145	Potential.									ovary(1)	1						CGCAAGAGTATTTTTTCCCTT	0.333												
AUTS2	26053	broad.mit.edu	37	7	70229815	70229816	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:70229815_70229816insC	uc003tvw.3	+	8	2035_2036	c.1292_1293insC	c.(1291-1293)TTCfs	p.F431fs	AUTS2_uc003tvx.3_Frame_Shift_Ins_p.F431fs|AUTS2_uc011keg.1_5'Flank	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2 isoform 1	431										ovary(2)|central_nervous_system(1)	3		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)		gcctccccgttccccctctccc	0.163												
PDGFRL	5157	broad.mit.edu	37	8	17486241	17486241	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:17486241delG	uc003wxr.2	+	4	812	c.751delG	c.(751-753)GGGfs	p.G251fs		NM_006207	NP_006198	Q15198	PGFRL_HUMAN	platelet-derived growth factor receptor-like	251						extracellular region	platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity				0				Colorectal(111;0.0752)		GGCGGAGGCCGGGGGCAGATC	0.552												
TOPORS	10210	broad.mit.edu	37	9	32544122	32544122	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:32544122delT	uc003zrb.2	-	3	568	c.401delA	c.(400-402)AACfs	p.N134fs	TOPORS_uc003zrc.2_Frame_Shift_Del_p.N67fs	NM_005802	NP_005793	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich	134	E3 ubiquitin-protein ligase activity.|Required for DNA-binding.|RING-type.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		TTCAGCTTTGTTTTTTGACCA	0.398												
MXRA5	25878	broad.mit.edu	37	X	3240185	3240185	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:3240185delA	uc004crg.3	-	5	3698	c.3541delT	c.(3541-3543)TCTfs	p.S1181fs		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	1181						extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GGTTGAGTAGAAAAAGTCTCT	0.488												
FAM9A	171482	broad.mit.edu	37	X	8763306	8763307	+	In_Frame_Ins	INS	-	-	CTG			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:8763306_8763307insCTG	uc004csg.2	-	7	754_755	c.643_644insCAG	c.(643-645)GAA>GCAGAA	p.214_215insA		NM_174951	NP_777611	Q8IZU1	FAM9A_HUMAN	family with sequence similarity 9, member A	214_215	Glu-rich.					nucleolus					0		Hepatocellular(5;0.219)				TACTATTACTTctgctgctgct	0.074												
CA5B	11238	broad.mit.edu	37	X	15790676	15790676	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:15790676delG	uc004cxe.2	+	4	515	c.398delG	c.(397-399)TGGfs	p.W133fs		NM_007220	NP_009151	Q9Y2D0	CAH5B_HUMAN	carbonic anhydrase VB, mitochondrial precursor	133					one-carbon metabolic process	mitochondrion	carbonate dehydratase activity|zinc ion binding				0	Hepatocellular(33;0.183)					CATTTTCACTGGGGGGCCATC	0.498												
DMD	1756	broad.mit.edu	37	X	31227807	31227808	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:31227807_31227808delAA	uc004dda.1	-	65	9614_9615	c.9370_9371delTT	c.(9370-9372)TTGfs	p.L3124fs	DMD_uc004dcq.1_Frame_Shift_Del_p.L395fs|DMD_uc004dcr.1_Frame_Shift_Del_p.L664fs|DMD_uc004dcs.1_Frame_Shift_Del_p.L664fs|DMD_uc004dct.1_Frame_Shift_Del_p.L664fs|DMD_uc004dcu.1_Frame_Shift_Del_p.L664fs|DMD_uc004dcv.1_Frame_Shift_Del_p.L664fs|DMD_uc004dcw.2_Frame_Shift_Del_p.L1780fs|DMD_uc004dcx.2_Frame_Shift_Del_p.L1783fs|DMD_uc004dcz.2_Frame_Shift_Del_p.L3001fs|DMD_uc004dcy.1_Frame_Shift_Del_p.L3120fs|DMD_uc004ddb.1_Frame_Shift_Del_p.L3116fs|DMD_uc004dcm.1_Frame_Shift_Del_p.L56fs|DMD_uc004dcn.1_Frame_Shift_Del_p.L56fs|DMD_uc004dco.1_Frame_Shift_Del_p.L56fs|DMD_uc004dcp.1_Frame_Shift_Del_p.L56fs|DMD_uc011mkb.1_Frame_Shift_Del_p.L56fs|DMD_uc010ngm.2_Frame_Shift_Del_p.L56fs	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	3124	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TGACAGGCTCAAGAGATCCACT	0.416												
BCOR	54880	broad.mit.edu	37	X	39913265	39913265	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:39913265delA	uc004den.3	-	14	5142	c.4850delT	c.(4849-4851)TTAfs	p.L1617fs	BCOR_uc004dep.3_Frame_Shift_Del_p.L1583fs|BCOR_uc004deo.3_Frame_Shift_Del_p.L1565fs|BCOR_uc010nhb.2_Frame_Shift_Del_p.L325fs|BCOR_uc004dem.3_Frame_Shift_Del_p.L1583fs	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	BCL-6 interacting corepressor isoform c	1617					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			ovary(2)|kidney(1)|central_nervous_system(1)	4						GGGGTTGGCTAAAACATCATA	0.438												
WDR45	11152	broad.mit.edu	37	X	48933099	48933101	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:48933099_48933101delAGG	uc004dmk.1	-	9	921_923	c.749_751delCCT	c.(748-753)TCCTTC>TTC	p.S250del	PRAF2_uc004dmh.2_5'Flank|PRAF2_uc004dmi.2_5'Flank|PRAF2_uc011mmt.1_In_Frame_Del_p.S148del|WDR45_uc004dmj.1_In_Frame_Del_p.S211del|WDR45_uc004dml.1_In_Frame_Del_p.S251del|WDR45_uc004dmm.1_In_Frame_Del_p.S215del|WDR45_uc010nim.1_Intron|WDR45_uc004dmn.1_In_Frame_Del_p.S141del|WDR45_uc004dmo.1_In_Frame_Del_p.S273del|WDR45_uc004dmp.1_In_Frame_Del_p.S251del	NM_001029896	NP_001025067	Q9Y484	WIPI4_HUMAN	WD repeat domain 45 isoform 2	250	WD 3.				autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding			ovary(1)	1						GCGCAGAGGAAGGAGGAGTCGTG	0.562												
FAM123B	139285	broad.mit.edu	37	X	63412648	63412648	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:63412648delA	uc004dvo.2	-	2	792	c.519delT	c.(517-519)TTTfs	p.F173fs		NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	family with sequence similarity 123B	173					Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(40)|p.F173fs*36(2)		kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1)	112						GGATACTGCTAAAAAAGCCTT	0.562												
DLG3	1741	broad.mit.edu	37	X	69722114	69722115	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:69722114_69722115delCT	uc004dyi.1	+	19	2777_2778	c.2449_2450delCT	c.(2449-2451)CTCfs	p.L817fs	DLG3_uc004dyj.1_Frame_Shift_Del_p.L512fs|DLG3_uc011mpn.1_Frame_Shift_Del_p.L365fs	NM_021120	NP_066943	Q92796	DLG3_HUMAN	synapse-associated protein 102 isoform a	817					axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			large_intestine(1)|pancreas(1)	2	Renal(35;0.156)					CCCTGAAAAACTCTGAAGAATC	0.455												
MCF2	4168	broad.mit.edu	37	X	138701772	138701773	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:138701772_138701773insT	uc004fau.2	-	7	1074_1075	c.780_781insA	c.(778-783)AAATTGfs	p.K260fs	MCF2_uc004fav.2_Frame_Shift_Ins_p.K260fs|MCF2_uc011mwl.1_Frame_Shift_Ins_p.K221fs|MCF2_uc010nsh.1_Frame_Shift_Ins_p.K260fs|MCF2_uc011mwm.1_Frame_Shift_Ins_p.K221fs|MCF2_uc011mwn.1_Frame_Shift_Ins_p.K405fs|MCF2_uc004faw.2_Frame_Shift_Ins_p.K320fs|MCF2_uc011mwo.1_Frame_Shift_Ins_p.K320fs	NM_005369	NP_005360	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	260_261	Spectrin.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			lung(1)|pleura(1)	2	Acute lymphoblastic leukemia(192;0.000127)					AAGTTTTCCAATTTTTTTATTT	0.307												
NOL9	79707	broad.mit.edu	37	1	6593377	6593378	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:6593376_6593377ACT>A	uc001ans.3	-	6	1296_1297	c.1200_1201AGT>T	c.(1198-1203)gagtccfs	p.E400fs	NOL9_uc010nzs.2_Non-coding_Transcript	NM_024654	NP_078930	Q5SY16	NOL9_HUMAN	Homo sapiens nucleolar protein 9 (NOL9), mRNA.	400					maturation of 5.8S rRNA	nucleolus	ATP binding|RNA binding|polynucleotide 5'-hydroxyl-kinase activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		ATGAGAGGGGACTCTCTCTTGT	0.431												
DNAJC11	55735	broad.mit.edu	37	1	6713014	6713014	+	Splice_Site	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:6713013_6713013TA>T	uc001aof.2	-	6	614	c.508_splice	c.e6-1	p.A170_splice	DNAJC11_uc001aog.2_Splice_Site_p.A170_splice|DNAJC11_uc010nzu.1_Splice_Site_p.A80_splice	NM_018198	NP_060668	Q9NVH1	DJC11_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 11 (DNAJC11), mRNA.	170					protein folding		heat shock protein binding|unfolded protein binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		CAAGGGTGCCTAAAAATGGTA	0.488												
PRDM2	7799	broad.mit.edu	37	1	14108560	14108560	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:14108559_14108559GA>G	uc001avi.3	+	7	5125	c.4269_4269GA>G	c.(4267-4269)aagfs	p.K1423fs	PRDM2_uc001avg.3_Intron|PRDM2_uc001avh.3_Frame_Shift_Del_p.K1423fs|PRDM2_uc001avk.3_Frame_Shift_Del_p.K1222fs|PRDM2_uc009voe.3_Intron|PRDM2_uc009vof.3_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	Homo sapiens PR domain containing 2, with ZNF domain (PRDM2), transcript variant 1, mRNA.	1423	Arg/Lys-rich (basic).					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		ATGCATTGAAGAAAAAAAATC	0.393												
TMEM222	84065	broad.mit.edu	37	1	27657215	27657215	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:27657214_27657214GT>G	uc001bnr.4	+	1	251	c.198_198GT>G	c.(196-198)tggfs	p.W66fs	TMEM222_uc021ojt.1_Non-coding_Transcript|TMEM222_uc001bns.4_Non-coding_Transcript|TMEM222_uc001bnt.4_Non-coding_Transcript	NM_032125	NP_115501	Q9H0R3	TM222_HUMAN	Homo sapiens transmembrane protein 222 (TMEM222), transcript variant 1, mRNA.	66						integral to membrane	protein binding			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						CTCACAGGTGGTTTTTCCCCA	0.557												
THRAP3	9967	broad.mit.edu	37	1	36752635	36752635	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:36752634_36752634GC>G	uc001cae.4	+	3	1027	c.803_803GC>G	c.(802-804)agcfs	p.S268fs	THRAP3_uc001caf.4_Frame_Shift_Del_p.S268fs|THRAP3_uc001cag.1_Frame_Shift_Del_p.S268fs	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	Homo sapiens thyroid hormone receptor associated protein 3 (THRAP3), mRNA.	268	Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCCCGTCCTAGCCCCGTGCCA	0.622			T	USP6	aneurysmal bone cysts							
PABPC4	8761	broad.mit.edu	37	1	40027379	40027381	+	In_Frame_Del	DEL	AGC	AGC	-	rs145196808		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:40027378_40027380TAGC>T	uc001cdl.2	-	14	2871_2873	c.1973_1975GCTA>A	c.(1972-1977)gctacc>gAcc	p.658_659AT>D	PPIEL_uc001cdk.3_5'Flank|PABPC4_uc010oiv.1_In_Frame_Del_p.642_643AT>D|PABPC4_uc001cdm.2_In_Frame_Del_p.629_630AT>D	NM_001135653	NP_001129125	Q13310	PABP4_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 4 (inducible form) (PABPC4), transcript variant 1, mRNA.	642					RNA catabolic process|RNA processing|blood coagulation|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GTCTAAGAGGTAGCAGCAGCAAC	0.468												
RLF	6018	broad.mit.edu	37	1	40705591	40705591	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:40705590_40705590TA>T	uc001cfc.4	+	7	5247	c.5216_5216TA>T	c.(5215-5217)gtafs	p.V1739fs	RLF_uc001cfd.4_Frame_Shift_Del_p.V1430fs	NM_012421	NP_036553	Q13129	RLF_HUMAN	Homo sapiens rearranged L-myc fusion (RLF), mRNA.	1739					DNA integration|DNA mediated transformation|chromosome organization|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			GAAAACACTGTAAAAAATCCA	0.403												
TAL1	6886	broad.mit.edu	37	1	47689698	47689698	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:47689697_47689697AG>A	uc001cqx.2	-	2	1097	c.520_520CT>T	c.(520-522)tatfs	p.Y174fs	TAL1_uc009vyq.2_5'UTR|TAL1_uc001cqy.2_Frame_Shift_Del_p.Y174fs|TAL1_uc001cra.1_Non-coding_Transcript|TAL1_uc001cqz.1_Non-coding_Transcript	NM_003189	NP_003180	P17542	TAL1_HUMAN	Homo sapiens T-cell acute lymphocytic leukemia 1 (TAL1), mRNA.	174					basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity			haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						TCCATCTCATAGGGGGAAGGT	0.572			T	"""TRD@, SIL"""	lymphoblastic leukemia/biphasic							
BTF3L4	91408	broad.mit.edu	37	1	52530571	52530571	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:52530570_52530570TA>T	uc001ctk.3	+	2	336	c.128_128TA>T	c.(127-129)ctafs	p.L43fs	BTF3L4_uc001ctl.3_5'UTR|BTF3L4_uc010onh.2_Frame_Shift_Del_p.L43fs	NM_152265	NP_001129969	Q96K17	BT3L4_HUMAN	Homo sapiens basic transcription factor 3-like 4 (BTF3L4), transcript variant 1, mRNA.	43	NAC-A/B.							p.L43V(1)		endometrium(2)|kidney(1)|large_intestine(2)	5						CAGAGTTCTCTAAAAAAACTG	0.388												
GNG12	55970	broad.mit.edu	37	1	68171151	68171151	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:68171150_68171150GT>G	uc001dea.2	-	3	408	c.203_203AC>C	c.(202-204)actfs	p.T68fs		NM_018841	NP_061329	Q9UBI6	GBG12_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), gamma 12 (GNG12), mRNA.	68					G-protein coupled receptor protein signaling pathway|cellular response to glucagon stimulus|energy reserve metabolic process|synaptic transmission	heterotrimeric G-protein complex	signal transducer activity			lung(3)	3						GATGATGCAAGTTTTTTTATC	0.433												
LPAR3	23566	broad.mit.edu	37	1	85331764	85331765	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:85331763_85331764T>TA	uc001dkl.2	-	0	79_80	c.40_41A>TA	c.(40-42)tatfs	p.Y14fs	LPAR3_uc009wcj.1_Frame_Shift_Ins_p.Y14fs	NM_012152	NP_036284	Q9UBY5	LPAR3_HUMAN	Homo sapiens lysophosphatidic acid receptor 3 (LPAR3), mRNA.	14					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						GCTCCTATTATAAAAAAAGTCC	0.337												
HIAT1	64645	broad.mit.edu	37	1	100534034	100534034	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:100534033_100534033TA>T	uc001dst.3	+	6	710	c.710_710TA>T	c.(709-711)ttafs	p.L237fs		NM_033055	NP_149044	Q96MC6	HIAT1_HUMAN	Homo sapiens hippocampus abundant transcript 1 (HIAT1), mRNA.	237					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		TTCTAGTCCTTAAAAAAAGTC	0.388												
OLFML3	56944	broad.mit.edu	37	1	114523959	114523959	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:114523958_114523958TC>T	uc001eer.1	+	2	897	c.788_788TC>T	c.(787-789)atcfs	p.I263fs	OLFML3_uc001ees.1_Frame_Shift_Del_p.I243fs|OLFML3_uc001eet.1_Frame_Shift_Del_p.I119fs	NM_020190	NP_064575	Q9NRN5	OLFL3_HUMAN	Homo sapiens olfactomedin-like 3 (OLFML3), mRNA.	263	Olfactomedin-like.				multicellular organismal development	extracellular region				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAGGGGCTGATCCCCCCCTAC	0.562												
ADAM30	11085	broad.mit.edu	37	1	120436591	120436591	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:120436590_120436590CT>C	uc001eij.3	-	0	2558	c.2370_2370AG>G	c.(2368-2370)aagfs	p.K790fs		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	790					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		TGCCCGGTTACTTTTTTTGTT	0.358												
FMO5	2330	broad.mit.edu	37	1	146680465	146680465	+	Frame_Shift_Del	DEL	T	T	-	rs72549315		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:146680464_146680464CT>C	uc001epi.2	-	5	1169	c.780_780AG>G	c.(778-780)aagfs	p.K260fs	FMO5_uc001eph.4_Frame_Shift_Del_p.K260fs|FMO5_uc001epj.2_Frame_Shift_Del_p.K260fs|FMO5_uc001epk.4_Frame_Shift_Del_p.K260fs	NM_001461	NP_001452	P49326	FMO5_HUMAN	Homo sapiens flavin containing monooxygenase 5 (FMO5), transcript variant 1, mRNA.	260						integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					TTTGGTTTATCTTTTTTTCCA	0.403												
GJA5	2702	broad.mit.edu	37	1	147230552	147230553	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:147230551_147230552C>CG	uc021ovl.1	-	0	795_796	c.795_796G>CG	c.(793-798)cccgacfs	p.P265fs	GJA5_uc001eps.1_Frame_Shift_Ins_p.P265fs|GJA5_uc001ept.1_Frame_Shift_Ins_p.P265fs	NM_181703	NP_859054	P36382	CXA5_HUMAN	Homo sapiens gap junction protein, alpha 5, 40kDa (GJA5), transcript variant B, mRNA.	265					angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane		p.P265P(2)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			TGATTAAAGTCGGGGGGTGGTG	0.530												
ADAMTSL4	54507	broad.mit.edu	37	1	150529443	150529443	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:150529442_150529442GT>G	uc009wlw.3	+	10	2004	c.1846_1846GT>G	c.(1846-1848)gttfs	p.V616fs	ADAMTSL4_uc001euw.3_Frame_Shift_Del_p.V593fs|ADAMTSL4_uc001eux.3_Frame_Shift_Del_p.V593fs|ADAMTSL4_uc010pcg.2_Frame_Shift_Del_p.V616fs|ADAMTSL4_uc009wlx.3_5'Flank	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	Homo sapiens ADAMTS-like 4 (ADAMTSL4), transcript variant 1, mRNA.	593	Pro-rich.				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			AAACCCAGGCGTTTTTTATCA	0.532												
POGZ	23126	broad.mit.edu	37	1	151378465	151378465	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:151378464_151378464TC>T	uc001eyd.2	-	18	3362	c.3047_3047GA>A	c.(3046-3048)gagfs	p.E1016fs	POGZ_uc021oyq.1_Frame_Shift_Del_p.E963fs|POGZ_uc010pdb.2_Frame_Shift_Del_p.E1007fs|POGZ_uc010pdc.2_Frame_Shift_Del_p.E954fs|POGZ_uc009wmv.2_Frame_Shift_Del_p.E921fs|POGZ_uc001eyf.2_Frame_Shift_Del_p.E972fs|POGZ_uc010pdd.2_Frame_Shift_Del_p.E507fs	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	Homo sapiens pogo transposable element with ZNF domain (POGZ), transcript variant 1, mRNA.	1016	HTH CENPB-type.				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CTCTAGATTCTCCCCCTGGGA	0.527												
ARHGAP30	257106	broad.mit.edu	37	1	161017601	161017601	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:161017600_161017600TG>T	uc001fxl.3	-	11	3557	c.3211_3211CA>A	c.(3211-3213)agafs	p.R1071fs	USF1_uc001fxj.3_5'Flank|USF1_uc001fxi.3_5'Flank|ARHGAP30_uc001fxk.3_Frame_Shift_Del_p.R860fs|ARHGAP30_uc001fxm.3_Frame_Shift_Del_p.R917fs|ARHGAP30_uc009wtx.3_Frame_Shift_Del_p.R744fs	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA.	1071					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			TGGGGTTCTCTGGGGGGCAGA	0.567												
DDX59	83479	broad.mit.edu	37	1	200635844	200635844	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:200635843_200635843AT>A	uc009wzk.3	-	1	269	c.26_26AT>T	c.(25-27)atcfs	p.I9fs	DDX59_uc010ppl.1_Frame_Shift_Del_p.I9fs	NM_001031725	NP_001026895	Q5T1V6	DDX59_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 59 (DDX59), mRNA.	9						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						ATTCCTCTTGATTTTTAGAGA	0.333												
KCNH1	3756	broad.mit.edu	37	1	211192537	211192538	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:211192536_211192537A>AG	uc001hib.2	-	5	790_791	c.620_621T>CT	c.(619-621)cctfs	p.P207fs	KCNH1_uc001hic.2_Frame_Shift_Ins_p.P207fs	NM_172362	NP_758872	O95259	KCNH1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA.	207					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		AGATGATGTGAGGGGGAGTCTT	0.446												
PROX1	5629	broad.mit.edu	37	1	214178556	214178556	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:214178555_214178555GT>G	uc001hkh.3	+	2	2045	c.1773_1773GT>G	c.(1771-1773)atgfs	p.M591fs		NM_002763	NP_002754	Q92786	PROX1_HUMAN	Homo sapiens prospero homeobox 1 (PROX1), mRNA.	591					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of S phase of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CAAAGCTCATGTTTTTTTATA	0.383												
PGBD2	267002	broad.mit.edu	37	1	249211828	249211828	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:249211827_249211827AT>A	uc001ifh.3	+	2	1191	c.1044_1044AT>A	c.(1042-1044)atafs	p.I348fs	PGBD2_uc001ifg.3_Frame_Shift_Del_p.I97fs|PGBD2_uc009xhd.3_Frame_Shift_Del_p.I345fs|PGBD2_uc021pmh.1_Frame_Shift_Del_p.I97fs	NM_170725	NP_001017434	Q6P3X8	PGBD2_HUMAN	Homo sapiens piggyBac transposable element derived 2 (PGBD2), transcript variant 1, mRNA.	348										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			CATATCACATATTTTTTGACA	0.438												
PGBD2	267002	broad.mit.edu	37	1	249211954	249211954	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr1:249211953_249211953GA>G	uc001ifh.3	+	2	1317	c.1170_1170GA>G	c.(1168-1170)ctgfs	p.L390fs	PGBD2_uc001ifg.3_Frame_Shift_Del_p.L139fs|PGBD2_uc009xhd.3_Frame_Shift_Del_p.L387fs|PGBD2_uc021pmh.1_Frame_Shift_Del_p.L139fs	NM_170725	NP_001017434	Q6P3X8	PGBD2_HUMAN	Homo sapiens piggyBac transposable element derived 2 (PGBD2), transcript variant 1, mRNA.	390										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			CCAAAGAACTGAAAAAAATGA	0.463												
ITSN2	50618	broad.mit.edu	37	2	24524111	24524111	+	Splice_Site	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:24524110_24524110TA>T	uc002rfe.2	-	11	1254	c.996_splice	c.e11-1	p.R332_splice	ITSN2_uc002rff.2_Splice_Site_p.R332_splice|ITSN2_uc002rfg.3_Splice_Site_p.R332_splice|ITSN2_uc010eyd.2_Splice_Site_p.R357_splice	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	Homo sapiens intersectin 2 (ITSN2), transcript variant 1, mRNA.	332	EH 2.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity|calcium ion binding			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)					TTTCCTCCTCTAAAAAAATCA	0.368												
BIRC6	57448	broad.mit.edu	37	2	32836529	32836530	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:32836528_32836529A>AT	uc010ezu.3	+	72	14407_14408	c.14273_14274A>AT	c.(14272-14274)catfs	p.H4758fs		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	4758					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ATACACAAACATTTTTACTTGA	0.376												
CEBPZ	10153	broad.mit.edu	37	2	37443454	37443461	+	Splice_Site	DEL	CATACCTT	CATACCTT	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:37443453_37443460GCATACCTT>G	uc002rpz.3	-	7	2341	c.2311_splice	c.e7+1	p.E771_splice		NM_005760	NP_005751	Q03701	CEBPZ_HUMAN	Homo sapiens CCAAT/enhancer binding protein (C/EBP), zeta (CEBPZ), mRNA.	771					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				CTAAATAGAAGCATACCTTTGCCTTTAT	0.317												
THADA	63892	broad.mit.edu	37	2	43799004	43799004	+	Splice_Site	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:43799003_43799003TA>T	uc002rsw.4	-	13	2261	c.1909_splice	c.e13-1	p.V637_splice	THADA_uc010far.3_5'Flank|THADA_uc002rsx.4_Splice_Site_p.V637_splice|THADA_uc002rsy.4_Splice_Site|THADA_uc010fas.1_Splice_Site|THADA_uc002rsz.3_Splice_Site_p.V347_splice|THADA_uc010fat.1_5'Flank|THADA_uc002rta.2_Splice_Site_p.V347_splice|THADA_uc002rtb.1_Splice_Site_p.V637_splice|THADA_uc002rtc.4_Splice_Site_p.V637_splice|THADA_uc002rtd.3_Splice_Site_p.V637_splice	NM_001083953	NP_071348	Q6YHU6	THADA_HUMAN	Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA.	637							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TATCCTTACCTAAAAAACATC	0.318												
MTIF2	4528	broad.mit.edu	37	2	55489457	55489457	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:55489456_55489456GT>G	uc002ryn.3	-	5	1064	c.327_327AC>C	c.(325-327)aacfs	p.N109fs	MTIF2_uc010yox.2_5'UTR|MTIF2_uc002ryo.3_Frame_Shift_Del_p.N109fs	NM_001005369	NP_002444	P46199	IF2M_HUMAN	Homo sapiens mitochondrial translational initiation factor 2 (MTIF2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	109					regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						ACTCACCTGTGTTTTTTTCCA	0.363												
PUS10	150962	broad.mit.edu	37	2	61198669	61198669	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:61198668_61198668GT>G	uc010fci.3	-	4	553	c.493_493AC>C	c.(493-495)cagfs	p.Q165fs	PUS10_uc002sao.3_Frame_Shift_Del_p.Q165fs|PUS10_uc010ypk.2_5'UTR	NM_144709	NP_653310	Q3MIT2	PUS10_HUMAN	Homo sapiens pseudouridylate synthase 10 (PUS10), mRNA.	165					pseudouridine synthesis|tRNA processing		RNA binding|pseudouridine synthase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			CCCATTTCCTGTTTTACCAGC	0.358												
ATP6V1B1	525	broad.mit.edu	37	2	71191573	71191573	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:71191572_71191572AC>A	uc002shj.3	+	11	1235	c.1148_1148AC>A	c.(1147-1149)tacfs	p.Y383fs	ATP6V1B1_uc010fdx.3_Frame_Shift_Del_p.Y341fs	NM_001692	NP_001683	P15313	VATB1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 (ATP6V1B1), mRNA.	383					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						CCTCAGATCTACCCCCCCATC	0.542											OREG0014686	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
DUSP11	8446	broad.mit.edu	37	2	73993685	73993686	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:73993684_73993685C>CA	uc002sjp.3	-	7	837_838	c.795_796G>TG	c.(793-798)tttgaafs	p.F265fs		NM_003584	NP_003575	O75319	DUS11_HUMAN	Homo sapiens dual specificity phosphatase 11 (RNA/RNP complex 1-interacting) (DUSP11), mRNA.	218					RNA processing	nucleus	RNA binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|skin(1)	12						GCTGAGTCTTCAAAATCACTTG	0.396												
DCTN1	1639	broad.mit.edu	37	2	74593377	74593377	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:74593376_74593376TG>T	uc002skx.3	-	22	3073	c.2755_2755CA>A	c.(2755-2757)agcfs	p.S919fs	SLC4A5_uc002skl.3_5'Flank|DCTN1_uc002skt.2_5'Flank|DCTN1_uc002skv.3_Frame_Shift_Del_p.S785fs|DCTN1_uc002sku.3_Frame_Shift_Del_p.S785fs|DCTN1_uc002skw.2_Frame_Shift_Del_p.S912fs|DCTN1_uc010ffd.3_Frame_Shift_Del_p.S899fs|DCTN1_uc002sky.3_Frame_Shift_Del_p.S882fs	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	Homo sapiens dynactin 1 (DCTN1), transcript variant 1, mRNA.	919					G2/M transition of mitotic cell cycle|cell death|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						CCTACCTTGCTGGGGGGCCGC	0.557												
WDR54	84058	broad.mit.edu	37	2	74650623	74650624	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:74650622_74650623C>CG	uc002slb.3	+	4	430_431	c.370_371C>CG	c.(370-372)cggfs	p.R124fs		NM_032118	NP_115494	Q9H977	WDR54_HUMAN	Homo sapiens WD repeat domain 54 (WDR54), mRNA.	124										breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						TGTGTTTGCCCGGGGAATTGCT	0.579												
FER1L5	90342	broad.mit.edu	37	2	97369993	97369993	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:97369992_97369992CA>C	uc010fia.3	+	50	5950	c.5950_5950CA>C	c.(5950-5952)caafs	p.Q1984fs	FER1L5_uc002sws.4_Frame_Shift_Del_p.Q693fs|FER1L5_uc010yus.2_Frame_Shift_Del_p.Q692fs	NM_001113382	NP_001106853	A0AVI2	FR1L5_HUMAN	Homo sapiens fer-1-like 5 (C. elegans) (FER1L5), mRNA.	1984						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						GTCACCAGTTCAAAACTTCTG	0.448												
EIF5B	9669	broad.mit.edu	37	2	99977650	99977650	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:99977649_99977649TA>T	uc002tab.3	+	3	469	c.285_285TA>T	c.(283-285)gatfs	p.D95fs		NM_015904	NP_056988	O60841	IF2P_HUMAN	Homo sapiens eukaryotic translation initiation factor 5B (EIF5B), mRNA.	95	Poly-Lys.				regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CCTCAAAAGATAAAAAAAAGA	0.303												
PTPN4	5775	broad.mit.edu	37	2	120677773	120677773	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:120677772_120677772AT>A	uc002tmf.1	+	11	1727	c.956_956AT>A	c.(955-957)aatfs	p.N319fs	PTPN4_uc010flj.1_Frame_Shift_Del_p.N32fs	NM_002830	NP_002821	P29074	PTN4_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte) (PTPN4), mRNA.	319						cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	CCTCAAAAGAATTTTTTTGCA	0.333												
EPB41L5	57669	broad.mit.edu	37	2	120918487	120918488	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:120918486_120918487T>TC	uc002tmg.3	+	20	2014_2015	c.1823_1824T>TC	c.(1822-1824)ctcfs	p.L608fs	EPB41L5_uc010fll.3_Frame_Shift_Ins_p.L608fs|EPB41L5_uc010flm.3_Frame_Shift_Ins_p.L412fs	NM_020909	NP_065960	Q9HCM4	E41L5_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 5 (EPB41L5), transcript variant 1, mRNA.	608						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						AATGTGCCCCTCCCCAAAGAGT	0.396												
IWS1	55677	broad.mit.edu	37	2	128252502	128252502	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:128252501_128252501CT>C	uc002ton.2	-	7	2049	c.1746_1746AG>G	c.(1744-1746)aagfs	p.K582fs	IWS1_uc010yzl.1_Non-coding_Transcript	NM_017969	NP_060439	Q96ST2	IWS1_HUMAN	Homo sapiens IWS1 homolog (S. cerevisiae) (IWS1), mRNA.	582					transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		TCAGTGCTGGCTTTTTTTGAT	0.264												
RBM43	375287	broad.mit.edu	37	2	152112048	152112049	+	Splice_Site	INS	-	-	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:152112047_152112048C>CT	uc002txh.3	-	2	362	c.214_splice	c.e2+1	p.V72_splice		NM_198557	NP_940959	Q6ZSC3	RBM43_HUMAN	Homo sapiens RNA binding motif protein 43 (RBM43), mRNA.	72	RRM.						RNA binding|nucleotide binding			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.131)		TTGGAAATACCTTTTTTTTCTT	0.287												
NEB	4703	broad.mit.edu	37	2	152567047	152567047	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:152567046_152567046AT>A	uc021vrb.1	-	8	858	c.829_829AT>T	c.(829-831)tacfs	p.Y277fs	NEB_uc002txu.3_Frame_Shift_Del_p.Y277fs|NEB_uc021vrc.1_Frame_Shift_Del_p.Y277fs|NEB_uc010fnx.3_Frame_Shift_Del_p.Y277fs|NEB_uc021vrd.1_Frame_Shift_Del_p.Y277fs	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	277					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCTTCTTTGTATTTTTGCTAG	0.284												
PLA2R1	22925	broad.mit.edu	37	2	160806195	160806196	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:160806194_160806195C>CA	uc002ube.2	-	24	3845_3846	c.3633_3634G>TG	c.(3631-3636)tttgccfs	p.F1211fs	PLA2R1_uc010zcp.2_Frame_Shift_Ins_p.F1211fs|PLA2R1_uc002ubf.3_Frame_Shift_Ins_p.F1211fs	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA.	1211	C-type lectin 7.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	p.V1210I(1)	PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						TTGCTGTCGGCAAAAACGCAGT	0.475												
TTN	7273	broad.mit.edu	37	2	179450022	179450022	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:179450021_179450021GT>G	uc021vsy.1	-	257	56971	c.56746_56746AC>C	c.(56746-56748)ctcfs	p.L18916fs	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Frame_Shift_Del_p.L12611fs|TTN_uc021vta.1_Frame_Shift_Del_p.L12544fs|TTN_uc021vtb.1_Frame_Shift_Del_p.L12419fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	19843	Ig-like 107.						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)			TCAATTCGGAGTTTTTTCCCA	0.403												
CCDC141	285025	broad.mit.edu	37	2	179720245	179720245	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:179720244_179720244CT>C	uc002une.2	-	18	3008	c.2890_2890AG>G	c.(2890-2892)gttfs	p.V964fs	CCDC141_uc002unf.1_Frame_Shift_Del_p.V443fs	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	389							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TTATTACTAACTTTTTCCATT	0.284												
MDH1B	130752	broad.mit.edu	37	2	207605795	207605795	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:207605794_207605794AT>A	uc002vbs.3	-	9	1498	c.1443_1443AT>T	c.(1441-1443)aatfs	p.N481fs	MDH1B_uc010ziw.2_Non-coding_Transcript|MDH1B_uc002vbt.3_Non-coding_Transcript|MDH1B_uc010fui.3_Frame_Shift_Del_p.N481fs	NM_001039845	NP_001034934	Q5I0G3	MDH1B_HUMAN	Homo sapiens malate dehydrogenase 1B, NAD (soluble) (MDH1B), mRNA.	481					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		ACATAGCTAGATTTTTTTCTT	0.333												
XRCC5	7520	broad.mit.edu	37	2	217024813	217024813	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:217024812_217024812TA>T	uc002vfy.3	+	14	1832	c.1692_1692TA>T	c.(1690-1692)gctfs	p.A564fs	XRCC5_uc002vfz.3_Frame_Shift_Del_p.A450fs	NM_021141	NP_066964	P13010	XRCC5_HUMAN	Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining) (XRCC5), mRNA.	564					double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		GACCTACAGCTAAAAAATTAA	0.408								Non-homologous end-joining				
INHA	3623	broad.mit.edu	37	2	220439701	220439702	+	Frame_Shift_Ins	INS	-	-	CT			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:220439700_220439701G>GCT	uc002vmk.2	+	1	696_697	c.553_554G>GCT	c.(553-555)gctfs	p.A185fs		NM_002191	NP_002182	P05111	INHA_HUMAN	Homo sapiens inhibin, alpha (INHA), mRNA.	185					cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development	inhibin A complex|inhibin-betaglycan-ActRII complex	cytokine activity|growth factor activity|hormone activity|signal transducer activity			large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10		Renal(207;0.0183)		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GGCCACCTCTGCTCTCTCTCTG	0.688												
PAX3	5077	broad.mit.edu	37	2	223086020	223086020	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:223086019_223086019AC>A	uc010fwo.3	-	5	1261	c.880_880GT>T	c.(880-882)ttcfs	p.F294fs	PAX3_uc002vmt.2_Frame_Shift_Del_p.F294fs|PAX3_uc002vmy.2_Frame_Shift_Del_p.F293fs|PAX3_uc002vmv.2_Frame_Shift_Del_p.F294fs|PAX3_uc002vmw.2_Frame_Shift_Del_p.F294fs|PAX3_uc002vmx.2_Frame_Shift_Del_p.F294fs	NM_181457	NP_852122	P23760	PAX3_HUMAN	Homo sapiens paired box 3 (PAX3), transcript variant PAX3, mRNA.	294					apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTGGGAGGGAACCCCCCGGGA	0.542			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome					
HTR2B	3357	broad.mit.edu	37	2	231973745	231973745	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:231973744_231973744CT>C	uc002vro.3	-	3	1438	c.933_933AG>G	c.(931-933)aagfs	p.K311fs	PSMD1_uc002vrn.2_Intron|PSMD1_uc002vrm.2_Intron|PSMD1_uc010fxu.2_Intron|HTR2B_uc010fxv.3_Frame_Shift_Del_p.K244fs	NM_000867	NP_000858	P41595	5HT2B_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2B (HTR2B), mRNA.	311					ERK1 and ERK2 cascade|G-protein coupled receptor internalization|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cGMP biosynthetic process|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|embryonic morphogenesis|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction	cytoplasm|integral to membrane|plasma membrane	G-protein alpha-subunit binding|Ras GTPase activator activity|calcium channel activity|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508)	TCTGCACTGACTTTTTCCCAA	0.443												
UGT1A1	54658	broad.mit.edu	37	2	234602262	234602262	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:234602261_234602261CT>C	uc002vuv.4	+	0	750	c.611_611CT>C	c.(610-612)actfs	p.T204fs	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Frame_Shift_Del_p.T204fs	NM_001072	NP_001063	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A6 (UGT1A6), transcript variant 1, mRNA.	205					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	GACCACATGACTTTTTCCCAA	0.453												
NDUFA10	4705	broad.mit.edu	37	2	240946781	240946781	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr2:240946780_240946780AT>A	uc010fzc.2	-	7	948	c.847_847AT>T	c.(847-849)tgtfs	p.C283fs	NDUFA10_uc002vyn.3_Frame_Shift_Del_p.C253fs	NM_004544	NP_004535	O95299	NDUAA_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa (NDUFA10), nuclear gene encoding mitochondrial protein, mRNA.	253					mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	NADH(DB00157)	AAAACCTCACATTTTTCACTG	0.318												
TRNT1	51095	broad.mit.edu	37	3	3189779	3189779	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:3189778_3189778GA>G	uc003bpp.4	+	7	1347	c.1245_1245GA>G	c.(1243-1245)tggfs	p.W415fs	TRNT1_uc010hbv.3_Frame_Shift_Del_p.W395fs|TRNT1_uc003bpm.2_Non-coding_Transcript	NM_182916	NP_886552	Q96Q11	TRNT1_HUMAN	Homo sapiens tRNA nucleotidyl transferase, CCA-adding, 1 (TRNT1), nuclear gene encoding mitochondrial protein, mRNA.	415					protein targeting to mitochondrion|tRNA 3'-end processing	mitochondrion	ATP binding|tRNA adenylyltransferase activity|tRNA binding			breast(2)|endometrium(3)|large_intestine(4)|lung(2)|urinary_tract(1)	12				Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011)		GAGAACAGTGGAAAAAAAGTG	0.393												
LRRN1	57633	broad.mit.edu	37	3	3888320	3888320	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:3888319_3888319TA>T	uc003bpt.4	+	1	2755	c.1994_1994TA>T	c.(1993-1995)ttafs	p.L665fs	SUMF1_uc003bps.2_Intron|LRRN1_uc021wsh.1_Frame_Shift_Del_p.L665fs	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	Homo sapiens leucine rich repeat neuronal 1 (LRRN1), mRNA.	665						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		CACCACTCATTAAAAAAGTAT	0.418												
PDCD6IP	10015	broad.mit.edu	37	3	33870419	33870419	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:33870418_33870418CA>C	uc003cfx.3	+	6	946	c.791_791CA>C	c.(790-792)gcafs	p.A264fs	PDCD6IP_uc003cfy.3_Frame_Shift_Del_p.A269fs|PDCD6IP_uc011axw.2_Frame_Shift_Del_p.A45fs	NM_013374	NP_037506	Q8WUM4	PDC6I_HUMAN	Homo sapiens programmed cell death 6 interacting protein (PDCD6IP), transcript variant 1, mRNA.	264	BRO1.|Interaction with CHMP4A, CHMP4B and CHMP4C.|Interaction with EIAV p9.				apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport	cytosol|melanosome|microtubule organizing center	calcium-dependent protein binding			central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						TCTATCCTGGCAAAACAGCAG	0.408												
SEC22C	9117	broad.mit.edu	37	3	42610466	42610466	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:42610465_42610465TA>T	uc003clj.3	-	1	284	c.74_74TA>A	c.(73-75)tacfs	p.Y25fs	SEC22C_uc003clh.3_Frame_Shift_Del_p.Y25fs|SEC22C_uc010hic.3_Frame_Shift_Del_p.Y25fs|SEC22C_uc011azo.2_5'UTR|SEC22C_uc003cli.3_Frame_Shift_Del_p.Y25fs	NM_032970	NP_116752	Q9BRL7	SC22C_HUMAN	Homo sapiens SEC22 vesicle trafficking protein homolog C (S. cerevisiae) (SEC22C), transcript variant 1, mRNA.	25	Longin.				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(2)	3				KIRC - Kidney renal clear cell carcinoma(284;0.222)		TTGGGTGTGGTAAAAATCAGT	0.507												
SETD2	29072	broad.mit.edu	37	3	47161907	47161907	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:47161906_47161906CT>C	uc003cqv.3	-	2	4273	c.4187_4187AG>G	c.(4186-4188)aggfs	p.R1396fs	SETD2_uc003cqs.3_Frame_Shift_Del_p.R1407fs	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	Homo sapiens SET domain containing 2 (SETD2), mRNA.	1407					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)		TTCCTGCCTCCTTTTTTTAAG	0.388			"""N, F, S, Mis"""		clear cell renal carcinoma							
DOCK3	1795	broad.mit.edu	37	3	51102018	51102018	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:51102017_51102017TG>T	uc011bds.2	+	5	477	c.454_454TG>T	c.(454-456)tggfs	p.W152fs		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	152						cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GCGCCTGGACTGGGGTAATGA	0.458												
ROBO2	6092	broad.mit.edu	37	3	77684125	77684125	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:77684124_77684124TA>T	uc011bgk.2	+	24	4519	c.3876_3876TA>T	c.(3874-3876)actfs	p.T1292fs	ROBO2_uc021xat.1_Frame_Shift_Del_p.T1304fs|ROBO2_uc003dpy.4_Frame_Shift_Del_p.T1288fs|ROBO2_uc003dpz.3_Frame_Shift_Del_p.T1353fs|ROBO2_uc011bgj.2_Non-coding_Transcript	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	1288					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CTCGGCCCACTAAAAAACACA	0.502												
KIAA1407	57577	broad.mit.edu	37	3	113765535	113765535	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:113765534_113765534TA>T	uc003eax.3	-	2	322	c.175_175TA>A	c.(175-177)actfs	p.T59fs	KIAA1407_uc011bin.1_Non-coding_Transcript|KIAA1407_uc011bio.1_Intron|KIAA1407_uc011bip.1_Frame_Shift_Del_p.T46fs	NM_020817	NP_065868	Q8NCU4	K1407_HUMAN	Homo sapiens KIAA1407 (KIAA1407), mRNA.	59										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						GAATTTCTAGTAAAAAATGCA	0.343												
PARP14	54625	broad.mit.edu	37	3	122418640	122418640	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:122418639_122418639TA>T	uc003efq.4	+	5	1297	c.1238_1238TA>T	c.(1237-1239)atafs	p.I413fs	PARP14_uc021xdc.1_Frame_Shift_Del_p.I277fs|PARP14_uc010hrk.3_Non-coding_Transcript|PARP14_uc003efr.3_Frame_Shift_Del_p.I130fs|PARP14_uc003efs.1_Frame_Shift_Del_p.I130fs	NM_017554	NP_060024	Q460N5	PAR14_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 14 (PARP14), mRNA.	413					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		TGGGACACCATAAAAAATGAT	0.393												
ADCY5	111	broad.mit.edu	37	3	123046535	123046535	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:123046534_123046534GC>G	uc003egh.2	-	6	1878	c.1878_1878GC>C	c.(1876-1878)ggcfs	p.G626fs	ADCY5_uc021xdd.1_Frame_Shift_Del_p.G276fs|ADCY5_uc003egg.2_Frame_Shift_Del_p.G259fs|ADCY5_uc003egi.1_Frame_Shift_Del_p.G185fs	NM_183357	NP_899200	O95622	ADCY5_HUMAN	Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA.	626					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding	p.G626G(2)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CGTTGCGCTCGCCCCCACAGC	0.642												
PIK3CB	5291	broad.mit.edu	37	3	138433482	138433482	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:138433481_138433481AT>A	uc011bmq.2	-	6	1131	c.1131_1131AT>T	c.(1129-1131)aatfs	p.N377fs	PIK3CB_uc011bmo.2_5'UTR|PIK3CB_uc011bmp.2_5'UTR	NM_006219	NP_006210	P42338	PK3CB_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, beta polypeptide (PIK3CB), transcript variant 1, mRNA.	377	C2 PI3K-type.				G-protein coupled receptor protein signaling pathway|T cell receptor signaling pathway|activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						AAATATGATCATTTTTCCCTG	0.378												
SLC33A1	9197	broad.mit.edu	37	3	155560396	155560396	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:155560395_155560395GA>G	uc003fan.4	-	1	1251	c.789_789TC>C	c.(787-789)ttcfs	p.F263fs	SLC33A1_uc003fao.2_Frame_Shift_Del_p.F263fs	NM_001190992	NP_004724	O00400	ACATN_HUMAN	Homo sapiens solute carrier family 33 (acetyl-CoA transporter), member 1 (SLC33A1), transcript variant 2, mRNA.	263					cell death|transmembrane transport	Golgi membrane|endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CAGTTCCCCAGAAAAAAAGGA	0.244												
MLF1	4291	broad.mit.edu	37	3	158322983	158322983	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:158322982_158322982CA>C	uc003fcc.3	+	8	1254	c.891_891CA>C	c.(889-891)aacfs	p.N297fs	MLF1_uc003fbx.3_Frame_Shift_Del_p.N256fs|MLF1_uc003fbz.3_Frame_Shift_Del_p.N241fs|MLF1_uc003fca.3_Frame_Shift_Del_p.N241fs|MLF1_uc003fcb.3_Frame_Shift_Del_p.N266fs|MLF1_uc010hvx.3_Frame_Shift_Del_p.N198fs|MLF1_uc003fby.3_Frame_Shift_Del_p.N192fs	NM_001195432	NP_001182361	P58340	MLF1_HUMAN	Homo sapiens myeloid leukemia factor 1 (MLF1), transcript variant 4, mRNA.	266					cell cycle arrest|myeloid progenitor cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein domain specific binding			large_intestine(3)	3		Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299)	Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256)			TGAAAAGCAACAAAAAATAAA	0.373			T	NPM1	AML							
SERPINI2	5276	broad.mit.edu	37	3	167189546	167189546	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:167189545_167189545AT>A	uc003fes.1	-	1	179	c.108_108AT>T	c.(106-108)aatfs	p.N36fs	SERPINI2_uc003fer.1_Frame_Shift_Del_p.N26fs|SERPINI2_uc003fet.1_Frame_Shift_Del_p.N26fs	NM_006217	NP_006208	O75830	SPI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (pancpin), member 2 (SERPINI2), mRNA.	26					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.Q35Q(1)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						CAAATTCGGTATTTTTTTGAG	0.363												
GPR160	26996	broad.mit.edu	37	3	169802469	169802470	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:169802468_169802469T>TA	uc003fgi.3	+	3	1298_1299	c.708_709T>TA	c.(706-711)tctaaafs	p.S236fs	GPR160_uc010hwq.3_Frame_Shift_Ins_p.S236fs|GPR160_uc021xhe.1_Frame_Shift_Ins_p.S236fs	NM_014373	NP_055188	Q9UJ42	GP160_HUMAN	Homo sapiens G protein-coupled receptor 160 (GPR160), mRNA.	236						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)	8	all_cancers(22;3.26e-22)|all_epithelial(15;5.71e-27)|all_lung(20;8.41e-17)|Lung NSC(18;3.49e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			CTGTGAGATCTAAAAAAATATT	0.327												
MFN1	55669	broad.mit.edu	37	3	179069813	179069813	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:179069812_179069812AT>A	uc003fjt.3	+	1	328	c.321_321AT>A	c.(319-321)gcafs	p.A107fs	MFN1_uc003fjs.3_Frame_Shift_Del_p.A79fs|MFN1_uc010hxb.3_Non-coding_Transcript	NM_033540	NP_284941	Q8IWA4	MFN1_HUMAN	Homo sapiens mitofusin 1 (MFN1), nuclear gene encoding mitochondrial protein, mRNA.	79					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity	p.G106G(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			TGAAGGTGGCATTTTTTGGCA	0.383												
USP13	8975	broad.mit.edu	37	3	179408081	179408081	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:179408080_179408080AT>A	uc003fkh.3	+	2	427	c.346_346AT>A	c.(346-348)attfs	p.I116fs		NM_003940	NP_003931	Q92995	UBP13_HUMAN	Homo sapiens ubiquitin specific peptidase 13 (isopeptidase T-3) (USP13), mRNA.	116					ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			GAATTCCAAGATTTTTTTAGG	0.353												
CCDC50	152137	broad.mit.edu	37	3	191093199	191093199	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:191093198_191093198GA>G	uc003fsv.3	+	5	1386	c.796_796GA>G	c.(796-798)gaafs	p.E266fs	CCDC50_uc003fsw.3_Intron	NM_178335	NP_848018	Q8IVM0	CCD50_HUMAN	Homo sapiens coiled-coil domain containing 50 (CCDC50), transcript variant 2, mRNA.	286	Poly-Pro.					cytoplasm	protein binding			endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		TCGAAATTGGGAAAAACAGTC	0.493												
PPP1R2	5504	broad.mit.edu	37	3	195245976	195245976	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:195245975_195245975CT>C	uc003fup.3	-	4	787	c.411_411AG>G	c.(409-411)aagfs	p.K137fs		NM_006241	NP_006232	P41236	IPP2_HUMAN	Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 2 (PPP1R2), mRNA.	137					glycogen metabolic process|regulation of phosphoprotein phosphatase activity|regulation of signal transduction		protein binding|protein serine/threonine phosphatase inhibitor activity			endometrium(2)|kidney(1)|large_intestine(1)|urinary_tract(2)	6	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)		Epithelial(36;2.64e-22)|all cancers(36;2.69e-20)|OV - Ovarian serous cystadenocarcinoma(49;3.52e-19)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;9.55e-05)		CAAATTGTCGCTTTTTTTCTA	0.323												
TCTEX1D2	255758	broad.mit.edu	37	3	196022943	196022943	+	Splice_Site	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr3:196022942_196022942TA>T	uc003fwi.3	-	4	460	c.318_splice	c.e4-1	p.F106_splice		NM_152773	NP_689986	Q8WW35	TC1D2_HUMAN	Homo sapiens Tctex1 domain containing 2 (TCTEX1D2), mRNA.	106							protein binding			breast(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)	7	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		GAAGCCATGCTAAAAAATCCA	0.368												
RGS12	6002	broad.mit.edu	37	4	3319346	3319346	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:3319345_3319345GC>G	uc003ggw.3	+	1	2352	c.1448_1448GC>G	c.(1447-1449)agcfs	p.S483fs	RGS12_uc003ggu.2_Frame_Shift_Del_p.S483fs|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_Non-coding_Transcript|RGS12_uc003ggv.3_Frame_Shift_Del_p.S483fs|RGS12_uc003ggx.1_Frame_Shift_Del_p.S483fs	NM_198229	NP_937872	O14924	RGS12_HUMAN	Homo sapiens regulator of G-protein signaling 12 (RGS12), transcript variant 1, mRNA.	483						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CCCGAAGGGAGCCCCCCATTT	0.682												
MAN2B2	23324	broad.mit.edu	37	4	6598914	6598916	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:6598913_6598915CTTG>C	uc003gjf.1	+	7	1167_1169	c.1131_1133CTTG>C	c.(1129-1134)gccttg>gcCg	p.L379del	MAN2B2_uc003gje.1_In_Frame_Del_p.L379del|MAN2B2_uc011bwf.1_In_Frame_Del_p.L328del	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN	Homo sapiens mannosidase, alpha, class 2B, member 2 (MAN2B2), mRNA.	379					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						GAGCCAGCGCCTTGTTGTATGCC	0.660												
CC2D2A	57545	broad.mit.edu	37	4	15529197	15529197	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:15529196_15529196GT>G	uc010idv.2	+	12	1521	c.1276_1276GT>G	c.(1276-1278)gttfs	p.V426fs	CC2D2A_uc003gnx.3_Frame_Shift_Del_p.V377fs|CC2D2A_uc003gnv.2_Frame_Shift_Del_p.V426fs	NM_001080522	NP_001073991	Q9P2K1	C2D2A_HUMAN	Homo sapiens coiled-coil and C2 domain containing 2A (CC2D2A), transcript variant 1, mRNA.	426					cell projection organization	cilium|microtubule basal body				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						CCGAGAGCATGTTTTGGCAGC	0.438												
CNGA1	1259	broad.mit.edu	37	4	47939172	47939172	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:47939171_47939171GT>G	uc003gxu.3	-	9	1688	c.1547_1547AC>C	c.(1546-1548)acafs	p.T516fs	BC041434_uc003gxr.1_Intron|CNGA1_uc003gxt.4_Frame_Shift_Del_p.T447fs	NM_001142564	NP_000078	P29973	CNGA1_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 1 (CNGA1), transcript variant 1, mRNA.	447					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						CTCATCAACTGTTTTTTTGTT	0.328												
UGT2A3	79799	broad.mit.edu	37	4	69817137	69817137	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:69817136_69817136CA>C	uc003hef.2	-	0	374	c.343_343TG>G	c.(343-345)gttfs	p.V115fs	UGT2A3_uc010ihp.1_Non-coding_Transcript	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA.	115						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CTTATTTCAACAAAAAAATCA	0.338												
ALB	213	broad.mit.edu	37	4	74280753	74280753	+	Splice_Site	DEL	T	T	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:74280752_74280752GT>G	uc003hgs.4	+	9	1132	c.1059_splice	c.e9-1	p.M353_splice	ALB_uc011cbe.2_Splice_Site_p.M32_splice|ALB_uc003hgw.4_Splice_Site_p.M161_splice|ALB_uc011cbf.2_Splice_Site_p.M243_splice	NM_000477	NP_000468	P02768	ALBU_HUMAN	Homo sapiens albumin (ALB), mRNA.	353	Albumin 2.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	DNA binding|antioxidant activity|chaperone binding|copper ion binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	TCTTAATTAGGTTTTTGTATG	0.358												
PRKG2	5593	broad.mit.edu	37	4	82061810	82061811	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:82061809_82061810A>AT	uc003hmh.2	-	10	1434_1435	c.1421_1422T>AT	c.(1420-1422)aatfs	p.N474fs	PRKG2_uc011ccf.1_Frame_Shift_Ins_p.N54fs|PRKG2_uc011ccg.1_Frame_Shift_Ins_p.N54fs|PRKG2_uc011cch.1_Frame_Shift_Ins_p.N445fs	NM_006259	NP_006250	Q13237	KGP2_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type II (PRKG2), mRNA.	474	Protein kinase.				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						CAACATTCTCATTTTTTACTTT	0.342												
MAD2L1	4085	broad.mit.edu	37	4	120981328	120981328	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr4:120981327_120981327AG>A	uc003idl.2	-	4	688	c.564_564CT>T	c.(562-564)actfs	p.T188fs	MAD2L1_uc003idm.2_3'UTR	NM_002358	NP_002349	Q13257	MD2L1_HUMAN	Homo sapiens MAD2 mitotic arrest deficient-like 1 (yeast) (MAD2L1), mRNA.	188	HORMA.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of apoptosis|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of mitotic cell cycle spindle assembly checkpoint	condensed chromosome kinetochore|cytosol|nucleus|perinuclear region of cytoplasm	protein homodimerization activity			breast(2)|kidney(2)|large_intestine(2)|lung(3)	9						TGTGGATTGTAGTAGTAAATG	0.368												
TTC33	23548	broad.mit.edu	37	5	40716477	40716477	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:40716476_40716476CT>C	uc003jma.3	-	4	708	c.560_560AG>G	c.(559-561)agtfs	p.S187fs	TTC33_uc011cpm.2_Frame_Shift_Del_p.S79fs|TTC33_uc010ivg.3_3'UTR	NM_012382	NP_036514	Q6PID6	TTC33_HUMAN	Homo sapiens tetratricopeptide repeat domain 33 (TTC33), mRNA.	187							binding			NS(1)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|urinary_tract(1)	11						TGGTGCTTCACTTTTTTTAAT	0.428												
HEATR7B2	133558	broad.mit.edu	37	5	41000852	41000853	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:41000851_41000852C>CA	uc003jmj.4	-	37	4768_4769	c.4278_4279G>TG	c.(4276-4281)tttgctfs	p.F1426fs	HEATR7B2_uc003jmi.4_Frame_Shift_Ins_p.F981fs	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	1426							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						ATTTCTTCAGCAAAAAAAATCT	0.460												
PIK3R1	5295	broad.mit.edu	37	5	67589576	67589576	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:67589575_67589575GA>G	uc003jva.3	+	10	1918	c.1338_1338GA>G	c.(1336-1338)gggfs	p.G446fs	PIK3R1_uc003jvc.3_Frame_Shift_Del_p.G146fs|PIK3R1_uc003jvd.3_Frame_Shift_Del_p.G176fs|PIK3R1_uc003jve.3_Frame_Shift_Del_p.G125fs|PIK3R1_uc021xzn.1_Frame_Shift_Del_p.G83fs|PIK3R1_uc011crb.2_Frame_Shift_Del_p.G116fs	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	446					T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.G446_Y452>VI(2)|p.D434_Q475del(2)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	AAGCTGTAGGGAAAAAATTAC	0.279			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)		
SRP19	6728	broad.mit.edu	37	5	112203205	112203205	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:112203204_112203204TA>T	uc003kqc.3	+	4	594	c.405_405TA>T	c.(403-405)agtfs	p.S135fs	SRP19_uc021yck.1_3'UTR|SRP19_uc003kqb.2_3'UTR|SRP19_uc021ycl.1_Frame_Shift_Del_p.S111fs|SRP19_uc011cvu.2_Intron	NM_003135	NP_003126	P09132	SRP19_HUMAN	Homo sapiens signal recognition particle 19kDa (SRP19), transcript variant 1, mRNA.	135					SRP-dependent cotranslational protein targeting to membrane|response to drug	cytosol|mitochondrion|nucleolus|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding			breast(1)|cervix(1)|large_intestine(1)	3		all_cancers(142;0.00328)|all_epithelial(76;6.39e-05)|Prostate(80;0.00174)|Colorectal(10;0.00372)|Ovarian(225;0.156)		Epithelial(69;1.7e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.17e-08)|all cancers(49;3.96e-07)|Colorectal(14;0.0056)|COAD - Colon adenocarcinoma(37;0.0104)		gagagggaagtaaaaaaggga	0.373												
CCDC112	153733	broad.mit.edu	37	5	114611203	114611204	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:114611202_114611203TTC>T	uc003kqz.2	-	5	846_847	c.628_629GAA>A	c.(628-630)aaafs	p.K210fs	CCDC112_uc003kqy.2_Frame_Shift_Del_p.K127fs|CCDC112_uc003kra.2_Frame_Shift_Del_p.K210fs	NM_001040440	NP_689762	Q8NEF3	CC112_HUMAN	Homo sapiens coiled-coil domain containing 112 (CCDC112), transcript variant 1, mRNA.	127										endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		TCTGAAAGCTTTCTCTGTTTCT	0.356												
CEP120	153241	broad.mit.edu	37	5	122720714	122720714	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:122720713_122720713TA>T	uc003ktk.3	-	11	1811	c.1695_1695TA>A	c.(1693-1695)ttafs	p.L565fs	CEP120_uc010jcz.2_Frame_Shift_Del_p.L539fs|CEP120_uc011cwq.2_Frame_Shift_Del_p.L374fs	NM_153223	NP_001159698	Q8N960	CE120_HUMAN	Homo sapiens centrosomal protein 120kDa (CEP120), transcript variant 1, mRNA.	565						centrosome				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						CATTAGAACCTAAAAAACGAG	0.373												
CDKL3	51265	broad.mit.edu	37	5	133634349	133634349	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:133634348_133634348GA>G	uc003kzf.4	-	12	1892	c.1773_1773TC>C	c.(1771-1773)ttcfs	p.F591fs	CDKL3_uc011cxm.1_Intron|CDKL3_uc011cxn.1_Intron|CDKL3_uc010jdw.2_Intron|CDKL3_uc011cxo.1_Intron|CDKL3_uc011cxp.1_Intron|CDKL3_uc011cxq.2_3'UTR	NM_001113575	NP_001107047	Q8IVW4	CDKL3_HUMAN	Homo sapiens cyclin-dependent kinase-like 3 (CDKL3), transcript variant 1, mRNA.	591						cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GACACTACCAGAAAAAAAACC	0.358												
KDM3B	51780	broad.mit.edu	37	5	137765964	137765964	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:137765963_137765963AC>A	uc003lcy.1	+	21	5119	c.4919_4919AC>A	c.(4918-4920)aacfs	p.N1640fs	KDM3B_uc010jew.1_Frame_Shift_Del_p.N1296fs|KDM3B_uc011cys.1_Frame_Shift_Del_p.N672fs	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	Homo sapiens lysine (K)-specific demethylase 3B (KDM3B), mRNA.	1640	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.E1639D(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						ggccaagagaacCCCCCTGAT	0.453												
PCDHGC5	56097	broad.mit.edu	37	5	140802964	140802964	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:140802963_140802963AC>A	uc003lkq.2	+	0	2427	c.2169_2169AC>A	c.(2167-2169)tcafs	p.S723fs	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lko.1_Frame_Shift_Del_p.S723fs|PCDHGC5_uc003lkp.2_Intron|PCDHGB8P_uc011daz.2_5'Flank	NM_018914	NP_061737	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 11 (PCDHGA11), transcript variant 1, mRNA.	714					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCATAAGTCACGCCTGCTGC	0.592												
DIAPH1	1729	broad.mit.edu	37	5	140905627	140905628	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:140905626_140905627GCT>G	uc003llb.4	-	25	3693_3694	c.3552_3553AGC>C	c.(3550-3555)gagcaafs	p.E1184fs	DIAPH1_uc011dbd.2_Frame_Shift_Del_p.E78fs|DIAPH1_uc003llc.4_Frame_Shift_Del_p.E1175fs|DIAPH1_uc021yep.1_Frame_Shift_Del_p.E1184fs|DIAPH1_uc021yeq.1_Frame_Shift_Del_p.E1175fs	NM_005219	NP_005210	O60610	DIAP1_HUMAN	Homo sapiens diaphanous homolog 1 (Drosophila) (DIAPH1), transcript variant 1, mRNA.	1184					regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	Rho GTPase binding|actin binding|receptor binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTATGAGTTGCTCTCTCTTCT	0.515												
TCOF1	6949	broad.mit.edu	37	5	149777957	149777957	+	Frame_Shift_Del	DEL	A	A	-	rs3205427		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:149777956_149777956CA>C	uc003lry.3	+	24	4490	c.4382_4382CA>C	c.(4381-4383)gcafs	p.A1461fs	TCOF1_uc003lrz.3_Frame_Shift_Del_p.A1423fs|TCOF1_uc011dch.2_Frame_Shift_Del_p.A1424fs|TCOF1_uc003lrx.3_Frame_Shift_Del_p.A1385fs|TCOF1_uc003lsa.3_Frame_Shift_Del_p.A1384fs	NM_001135243	NP_001128715	Q13428	TCOF_HUMAN	Homo sapiens Treacher Collins-Franceschetti syndrome 1 (TCOF1), transcript variant 4, mRNA.	1461	Poly-Lys.				skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			aagaagaaagcaaaaaaGGCC	0.403												
STK10	6793	broad.mit.edu	37	5	171517345	171517345	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:171517344_171517344GT>G	uc003mbo.1	-	9	1877	c.1577_1577AC>C	c.(1576-1578)accfs	p.T526fs		NM_005990	NP_005981	O94804	STK10_HUMAN	Homo sapiens serine/threonine kinase 10 (STK10), mRNA.	526							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCGCTTGAGGGTTTTTTTGTA	0.512												
CPEB4	80315	broad.mit.edu	37	5	173317747	173317748	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:173317746_173317747A>AT	uc003mcs.4	+	0	2416_2417	c.1010_1011A>AT	c.(1009-1011)aatfs	p.N337fs	CPEB4_uc010jju.2_Frame_Shift_Ins_p.N337fs|CPEB4_uc010jjv.3_Frame_Shift_Ins_p.N337fs|CPEB4_uc011dfg.2_Frame_Shift_Ins_p.N337fs|CPEB4_uc003mcu.4_5'Flank	NM_030627	NP_085130	Q17RY0	CPEB4_HUMAN	Homo sapiens cytoplasmic polyadenylation element binding protein 4 (CPEB4), mRNA.	337							RNA binding|nucleotide binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TTGAAGAAAAATTTTGCAAGCA	0.515												
NOP16	51491	broad.mit.edu	37	5	175812233	175812234	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:175812232_175812233T>TC	uc003mee.3	-	3	382_383	c.382_383A>GA	c.(382-384)gagfs	p.E128fs	NOP16_uc003med.3_Frame_Shift_Ins_p.E128fs|NOP16_uc011dfl.2_Frame_Shift_Ins_p.E128fs			Q9Y3C1	NOP16_HUMAN	Homo sapiens NOP16 nucleolar protein homolog (yeast) (NOP16), mRNA.	128						nucleolus				central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	8						CTTATAGTCCTCCCCGTGGTTC	0.569												
NSD1	64324	broad.mit.edu	37	5	176696802	176696802	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:176696801_176696801TA>T	uc003mfr.4	+	15	5640	c.5502_5502TA>T	c.(5500-5502)tatfs	p.Y1834fs	NSD1_uc003mft.4_Frame_Shift_Del_p.Y1565fs|NSD1_uc003mfs.1_Frame_Shift_Del_p.Y1731fs|NSD1_uc011dfx.2_Frame_Shift_Del_p.Y1482fs	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Homo sapiens nuclear receptor binding SET domain protein 1 (NSD1), transcript variant 2, mRNA.	1834					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	p.A1837fs*10(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		ATGGGACATATAAAAAAGGTA	0.428			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)		
BTNL3	10917	broad.mit.edu	37	5	180432665	180432665	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr5:180432664_180432664TC>T	uc003mmr.3	+	7	1377	c.1193_1193TC>T	c.(1192-1194)ctcfs	p.L398fs	BTNL3_uc010jlp.3_Frame_Shift_Del_p.L183fs	NM_197975	NP_932079	Q6UXE8	BTNL3_HUMAN	Homo sapiens butyrophilin-like 3 (BTNL3), mRNA.	398	B30.2/SPRY.				lipid metabolic process	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			TTTATCAGCCTCCCCCCCAGC	0.473												
ELOVL2	54898	broad.mit.edu	37	6	10995330	10995330	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:10995329_10995329GT>G	uc003mzp.4	-	4	577	c.416_416AC>C	c.(415-417)acgfs	p.T139fs		NM_017770	NP_060240	Q9NXB9	ELOV2_HUMAN	Homo sapiens ELOVL fatty acid elongase 2 (ELOVL2), mRNA.	139					fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2)	14	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	Epithelial(50;0.176)			AATCTGACTCGTTTTTTTCCG	0.363												
FAM8A1	51439	broad.mit.edu	37	6	17608468	17608468	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:17608467_17608467CT>C	uc003ncc.3	+	4	1262	c.1139_1139CT>C	c.(1138-1140)tctfs	p.S380fs		NM_016255	NP_057339	Q9UBU6	FA8A1_HUMAN	Homo sapiens family with sequence similarity 8, member A1 (FAM8A1), mRNA.	380	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)			TCAATTGCTTCTTTTTTCCCT	0.343												
NUP153	9972	broad.mit.edu	37	6	17640225	17640225	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:17640224_17640224TA>T	uc003ncd.1	-	14	1992	c.1792_1792TA>A	c.(1792-1794)agafs	p.R598fs	NUP153_uc011dje.1_Frame_Shift_Del_p.R629fs|NUP153_uc010jpl.1_Intron	NM_005124	NP_005115	P49790	NU153_HUMAN	Homo sapiens nucleoporin 153kDa (NUP153), mRNA.	598					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding	p.R598S(1)		NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			TCTGCAGGTCTAAAAGGACCC	0.333												
RNF144B	255488	broad.mit.edu	37	6	18399839	18399840	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:18399838_18399839G>GC	uc003ncs.3	+	1	390_391	c.73_74G>GC	c.(73-75)gccfs	p.A25fs		NM_182757	NP_877434	Q7Z419	R144B_HUMAN	Homo sapiens ring finger protein 144B (RNF144B), mRNA.	25					apoptosis|positive regulation of anti-apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)	11	Ovarian(93;0.00365)|Breast(50;0.0145)	all_hematologic(90;0.0536)	OV - Ovarian serous cystadenocarcinoma(7;0.00165)|all cancers(50;0.0102)|Epithelial(50;0.0105)			CCTGGCTCCGGCCCCCCTCATC	0.540												
MDC1	9656	broad.mit.edu	37	6	30679846	30679846	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:30679845_30679845GC>G	uc003nrg.4	-	4	2314	c.1874_1874GC>C	c.(1873-1875)gccfs	p.A625fs	MDC1_uc003nrf.4_Frame_Shift_Del_p.A279fs|MDC1_uc011dmp.1_Frame_Shift_Del_p.A497fs|MDC1_uc003nrh.1_Frame_Shift_Del_p.A497fs|MDC1_uc003nri.2_Frame_Shift_Del_p.A625fs	NM_014641	NP_055456	Q14676	MDC1_HUMAN	Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA.	625					cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						CCCACCCTGGGCCCCCACCTC	0.577								Other conserved DNA damage response genes				
NFKBIL1	4795	broad.mit.edu	37	6	31525506	31525506	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:31525505_31525505AC>A	uc003nub.3	+	2	554	c.435_435AC>A	c.(433-435)ggafs	p.G145fs	NFKBIL1_uc011dnr.2_Frame_Shift_Del_p.G122fs|NFKBIL1_uc011dns.2_Frame_Shift_Del_p.G122fs|NFKBIL1_uc011dnt.1_Non-coding_Transcript|NFKBIL1_uc003nuc.3_Frame_Shift_Del_p.G145fs	NM_005007	NP_001138434	Q9UBC1	IKBL1_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1 (NFKBIL1), transcript variant 1, mRNA.	145					cytoplasmic sequestering of transcription factor		protein binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						TGGGCTGGGGACCCCCCTGGG	0.582												
SLC44A4	80736	broad.mit.edu	37	6	31846750	31846751	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:31846749_31846750T>TC	uc010jti.3	-	0	74_75	c.8_9A>GA	c.(7-9)ggafs	p.G3fs	SLC44A4_uc011dol.2_5'Flank|SLC44A4_uc011dom.2_Frame_Shift_Ins_p.G3fs	NM_025257	NP_079533	Q53GD3	CTL4_HUMAN	Homo sapiens solute carrier family 44, member 4 (SLC44A4), transcript variant 1, mRNA.	3						integral to membrane|plasma membrane	choline transmembrane transporter activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	CCCGCTGCTTTCCCCCCATGGC	0.688												
BRPF3	27154	broad.mit.edu	37	6	36181729	36181729	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:36181728_36181728TC>T	uc003olv.4	+	7	2778	c.2554_2554TC>T	c.(2554-2556)tccfs	p.S852fs	BRPF3_uc010jwb.3_Intron|BRPF3_uc011dtj.2_Intron|BRPF3_uc010jwc.3_Non-coding_Transcript|BRPF3_uc011dtk.2_Intron	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN	Homo sapiens bromodomain and PHD finger containing, 3 (BRPF3), mRNA.	852					histone H3 acetylation|platelet activation|platelet degranulation	MOZ/MORF histone acetyltransferase complex|cytosol|extracellular region	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						TGAGCAAGAATCCCCCCCGGA	0.502												
DNAH8	1769	broad.mit.edu	37	6	38816440	38816440	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:38816439_38816439TA>T	uc021yzh.1	+	36	5170	c.5061_5061TA>T	c.(5059-5061)tttfs	p.F1687fs	DNAH8_uc003ooe.2_Frame_Shift_Del_p.F1470fs	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											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						ATGCTCCATTTAAAAAAAATA	0.343												
SLC25A27	9481	broad.mit.edu	37	6	46630156	46630156	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:46630155_46630155GT>G	uc003oyh.3	+	3	704	c.426_426GT>G	c.(424-426)cagfs	p.Q142fs	SLC25A27_uc011dwb.2_Frame_Shift_Del_p.Q142fs|SLC25A27_uc003oyg.3_Frame_Shift_Del_p.Q142fs|SLC25A27_uc011dwc.2_Frame_Shift_Del_p.Q56fs|SLC25A27_uc003oyi.3_Frame_Shift_Del_p.Q72fs	NM_004277	NP_004268	O95847	UCP4_HUMAN	Homo sapiens solute carrier family 25, member 27 (SLC25A27), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	142					generation of precursor metabolites and energy|transport	integral to membrane|mitochondrial inner membrane				central_nervous_system(1)|kidney(1)|lung(4)|prostate(1)|urinary_tract(1)	8			Lung(136;0.192)			TTATTGGCCAGTTTTTAGCCA	0.383												
PHF3	23469	broad.mit.edu	37	6	64394428	64394429	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:64394427_64394428G>GA	uc003pep.1	+	2	829_830	c.804_805G>GA	c.(802-807)aagaaafs	p.K268fs	PHF3_uc010kaf.1_Frame_Shift_Ins_p.K268fs|PHF3_uc003pem.2_Frame_Shift_Ins_p.K221fs|PHF3_uc010kag.1_Frame_Shift_Ins_p.K180fs|PHF3_uc010kah.1_Frame_Shift_Ins_p.K82fs|PHF3_uc003pen.2_Frame_Shift_Ins_p.K180fs|PHF3_uc011dxs.1_Intron|PHF3_uc003peo.3_Frame_Shift_Ins_p.K268fs	NM_015153	NP_055968	Q92576	PHF3_HUMAN	Homo sapiens PHD finger protein 3 (PHF3), mRNA.	268					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TTGGAGAAAAGAAAAATGAAGC	0.337												
BAI3	577	broad.mit.edu	37	6	69348715	69348715	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:69348714_69348714TA>T	uc010kak.3	+	1	423	c.147_147TA>T	c.(145-147)cctfs	p.P49fs	BAI3_uc003pev.4_Frame_Shift_Del_p.P49fs	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	49	CUB.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P49P(2)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AAATGTTTCCTAAAAACTTTA	0.383												
FILIP1	27145	broad.mit.edu	37	6	76124508	76124508	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:76124507_76124507GT>G	uc010kbe.3	-	2	721	c.191_191AC>C	c.(190-192)acafs	p.T64fs	FILIP1_uc003phy.1_Frame_Shift_Del_p.T61fs|FILIP1_uc003pia.3_Frame_Shift_Del_p.T61fs	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	61										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TTCTCCAGATGTTTTTAGGTG	0.408												
CYB5R4	51167	broad.mit.edu	37	6	84634231	84634232	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:84634230_84634231C>CA	uc003pkf.3	+	9	865_866	c.733_734C>CA	c.(733-735)caafs	p.Q245fs		NM_016230	NP_057314	Q7L1T6	NB5R4_HUMAN	Homo sapiens cytochrome b5 reductase 4 (CYB5R4), mRNA.	245	CS.				cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	NAD(P)H oxidase activity|cytochrome-b5 reductase activity|heme binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		GATTGTTCTACAAAAAAAAGAG	0.337												
ZNF292	23036	broad.mit.edu	37	6	87970954	87970954	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:87970953_87970953GA>G	uc003plm.4	+	7	7647	c.7606_7606GA>G	c.(7606-7608)gaafs	p.E2536fs		NM_015021	NP_055836	O60281	ZN292_HUMAN	Homo sapiens zinc finger protein 292 (ZNF292), mRNA.	2536					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)		AGTTAATAAGGAAAAAAATGT	0.348												
ASCC3	10973	broad.mit.edu	37	6	101091910	101091910	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:101091909_101091909GT>G	uc003pqk.3	-	22	4059	c.3730_3730AC>C	c.(3730-3732)caafs	p.Q1244fs		NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	Homo sapiens activating signal cointegrator 1 complex subunit 3 (ASCC3), transcript variant 1, mRNA.	1244	SEC63 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.Q1244H(1)		breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		ACACTTACTTGTTTTTTTAGA	0.289												
GRIK2	2898	broad.mit.edu	37	6	102503338	102503338	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:102503337_102503337TG>T	uc003pqp.4	+	14	2737	c.2444_2444TG>T	c.(2443-2445)ctgfs	p.L815fs	GRIK2_uc010kcw.3_Frame_Shift_Del_p.L815fs|GRIK2_uc003pqo.4_Frame_Shift_Del_p.L815fs|GRIK2_uc021zdk.1_Frame_Shift_Del_p.L628fs|GRIK2_uc021zdl.1_Non-coding_Transcript	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 2 (GRIK2), transcript variant 1, mRNA.	815					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	GCCAGTGCCCTGGGGGTTCAG	0.473												
HACE1	57531	broad.mit.edu	37	6	105192433	105192433	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:105192432_105192432AT>A	uc003pqu.1	-	20	2674	c.2397_2397AT>T	c.(2395-2397)aatfs	p.N799fs	HACE1_uc010kcy.1_Frame_Shift_Del_p.N281fs|HACE1_uc010kcz.1_Frame_Shift_Del_p.N584fs|HACE1_uc010kcx.1_Frame_Shift_Del_p.N208fs|HACE1_uc003pqt.1_Frame_Shift_Del_p.N452fs	NM_020771	NP_065822	Q8IYU2	HACE1_HUMAN	Homo sapiens HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1 (HACE1), mRNA.	799	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		TGTATTCTGTATTTTTTATCC	0.328												
SESN1	27244	broad.mit.edu	37	6	109315692	109315692	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:109315691_109315691CT>C	uc003psu.3	-	5	1526	c.1094_1094AG>G	c.(1093-1095)agafs	p.R365fs	SESN1_uc021zdp.1_Frame_Shift_Del_p.R240fs|SESN1_uc003pst.4_Frame_Shift_Del_p.R306fs	NM_014454	NP_001186863	Q9Y6P5	SESN1_HUMAN	Homo sapiens sestrin 1 (SESN1), transcript variant 1, mRNA.	306					cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus	nucleus				cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)		CATACTCTCTCTTTTTTCTAT	0.338												
SLC16A10	117247	broad.mit.edu	37	6	111527826	111527826	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:111527825_111527825GA>G	uc003pus.3	+	3	1148	c.973_973GA>G	c.(973-975)gaafs	p.E325fs	SLC16A10_uc003put.3_Frame_Shift_Del_p.E11fs	NM_018593	NP_061063	Q8TF71	MOT10_HUMAN	Homo sapiens solute carrier family 16, member 10 (aromatic amino acid transporter) (SLC16A10), mRNA.	325					aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport	basolateral plasma membrane|integral to membrane	amino acid transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)		ATTTCAAGATGAAAAAAATAA	0.393												
TUBE1	51175	broad.mit.edu	37	6	112397206	112397206	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:112397205_112397205CT>C	uc003pvq.3	-	7	861	c.747_747AG>G	c.(745-747)aagfs	p.K249fs		NM_016262	NP_057346	Q9UJT0	TBE_HUMAN	Homo sapiens tubulin, epsilon 1 (TUBE1), mRNA.	249					centrosome cycle|microtubule-based movement|protein polymerization	microtubule|pericentriolar material	GTP binding|GTPase activity|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	12		all_cancers(87;0.0101)|all_hematologic(75;0.000258)|Colorectal(196;0.0466)|all_epithelial(87;0.1)		all cancers(137;0.0217)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0636)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		TCTTATGCTGCTTTTTTAAAG	0.388												
KPNA5	3841	broad.mit.edu	37	6	117053387	117053389	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:117053386_117053388TAGA>T	uc003pxh.3	+	13	1651_1653	c.1520_1522TAGA>T	c.(1519-1524)gtagaa>gTaa	p.E509del		NM_002269	NP_002260	O15131	IMA5_HUMAN	Homo sapiens karyopherin alpha 5 (importin alpha 6) (KPNA5), mRNA.	506					NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding|protein transporter activity			breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		TACTTTGGTGTAGAAGAAGATGA	0.374												
RFX6	222546	broad.mit.edu	37	6	117250017	117250018	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:117250016_117250017G>GC	uc003pxm.3	+	17	2556_2557	c.2493_2494G>GC	c.(2491-2496)ctgcccfs	p.L831fs		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	831					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TTCGTTCACTGCCCCCCTACAG	0.455												
NCOA7	135112	broad.mit.edu	37	6	126249853	126249855	+	In_Frame_Del	DEL	ATG	ATG	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:126249852_126249854AATG>A	uc003qai.3	+	15	3133_3135	c.2764_2766AATG>A	c.(2764-2766)aat>A	p.N922del	NCOA7_uc010kes.3_In_Frame_Del_p.N922del|NCOA7_uc003qae.4_In_Frame_Del_p.N922del|NCOA7_uc010ket.3_In_Frame_Del_p.N807del|NCOA7_uc003qah.3_In_Frame_Del_p.N911del|NCOA7_uc003qak.3_In_Frame_Del_p.N199del	NM_181782	NP_861447	Q8NI08	NCOA7_HUMAN	Homo sapiens nuclear receptor coactivator 7 (NCOA7), transcript variant 1, mRNA.	922	TLD.				cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		CACTTTCAATAATGATATTCTTT	0.350												
THEMIS	387357	broad.mit.edu	37	6	128134568	128134568	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:128134567_128134567CT>C	uc011ebt.2	-	3	1368	c.1219_1219AG>G	c.(1219-1221)gtgfs	p.V407fs	THEMIS_uc010kfa.3_Frame_Shift_Del_p.V310fs|THEMIS_uc021zfa.1_Frame_Shift_Del_p.V407fs|THEMIS_uc010kfb.3_Frame_Shift_Del_p.V372fs	NM_001164685	NP_001158157	Q8N1K5	THMS1_HUMAN	Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.	407	CABIT 2.				T cell receptor signaling pathway|negative T cell selection|positive T cell selection	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						ACATTCACCACTTTTTTTATT	0.463												
MED23	9439	broad.mit.edu	37	6	131921295	131921295	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:131921294_131921294TA>T	uc003qcs.1	-	17	2278	c.2104_2104TA>A	c.(2104-2106)acafs	p.T702fs	MED23_uc003qcq.3_Frame_Shift_Del_p.T708fs|MED23_uc011eca.1_Frame_Shift_Del_p.T343fs|MED23_uc003qct.1_Frame_Shift_Del_p.T708fs	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	Homo sapiens mediator complex subunit 23 (MED23), transcript variant 1, mRNA.	702					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		TCAGAGCCTGTAAAAAAATCT	0.323												
FBXO5	26271	broad.mit.edu	37	6	153293482	153293482	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr6:153293481_153293481CT>C	uc003qpg.3	-	3	1127	c.1018_1018AG>G	c.(1018-1020)gatfs	p.D340fs	FBXO5_uc003qph.3_Frame_Shift_Del_p.D294fs	NM_012177	NP_001135994	Q9UKT4	FBX5_HUMAN	Homo sapiens F-box protein 5 (FBXO5), transcript variant 1, mRNA.	340					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm|spindle	metal ion binding|protein binding	p.D340fs*30(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	15		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.38e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0893)		GTTTGAGCATCTTTTTTGAGA	0.368												
NUPL2	11097	broad.mit.edu	37	7	23224773	23224773	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:23224772_23224772TG>T	uc003svu.3	+	1	464	c.205_205TG>T	c.(205-207)tggfs	p.W69fs	NUPL2_uc003svv.3_Non-coding_Transcript|NUPL2_uc011jyw.2_Non-coding_Transcript	NM_007342	NP_031368	O15504	NUPL2_HUMAN	Homo sapiens nucleoporin like 2 (NUPL2), mRNA.	69					carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATCCACACCATGGGGGGGCAG	0.408												
DDC	1644	broad.mit.edu	37	7	50531075	50531075	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:50531074_50531074AT>A	uc003tpg.4	-	13	1499	c.1298_1298AT>T	c.(1297-1299)atcfs	p.I433fs	DDC_uc022ade.1_Frame_Shift_Del_p.I355fs|DDC_uc003tpf.4_Frame_Shift_Del_p.I433fs|DDC_uc022adb.1_Frame_Shift_Del_p.I395fs|DDC_uc022adc.1_Frame_Shift_Del_p.I385fs|DDC_uc022add.1_Frame_Shift_Del_p.I340fs	NM_001082971	NP_001076440	P20711	DDC_HUMAN	Homo sapiens dopa decarboxylase (aromatic L-amino acid decarboxylase) (DDC), transcript variant 1, mRNA.	433					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	AACCAAGTGGATTTTTTTGGC	0.507												
CROT	54677	broad.mit.edu	37	7	87027909	87027909	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:87027908_87027908CT>C	uc003uiu.3	+	18	2116	c.1871_1871CT>C	c.(1870-1872)actfs	p.T624fs	CROT_uc003uit.3_Frame_Shift_Del_p.T596fs	NM_001143935	NP_001137407	Q9UKG9	OCTC_HUMAN	Homo sapiens carnitine O-octanoyltransferase (CROT), transcript variant 1, mRNA.	596					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	GTTCAGCTGACTTTTTGTGCT	0.373												
TRRAP	8295	broad.mit.edu	37	7	98528336	98528337	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:98528335_98528336T>TG	uc003upp.3	+	24	3682_3683	c.3473_3474T>TG	c.(3472-3474)ctgfs	p.L1158fs	TRRAP_uc011kis.2_Frame_Shift_Ins_p.L1158fs|TRRAP_uc003upr.3_Frame_Shift_Ins_p.L850fs	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	1158					histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TATGCAAAGCTGGGGGGTGTGG	0.505												
LRRN3	54674	broad.mit.edu	37	7	110762901	110762902	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:110762900_110762901T>TA	uc003vft.4	+	3	1118_1119	c.72_73T>TA	c.(70-75)gataaafs	p.D24fs	IMMP2L_uc003vfq.2_Intron|IMMP2L_uc010ljr.2_Intron|IMMP2L_uc003vfr.3_Intron|LRRN3_uc003vfu.4_Frame_Shift_Ins_p.D24fs|LRRN3_uc003vfs.4_Frame_Shift_Ins_p.D24fs|LRRN3_uc022akc.1_Frame_Shift_Ins_p.D24fs	NM_001099660	NP_060804	Q9H3W5	LRRN3_HUMAN	Homo sapiens leucine rich repeat neuronal 3 (LRRN3), transcript variant 1, mRNA.	24	LRRNT.		D -> G (in dbSNP:rs9942557).			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)		AAGCTGTAGATAAAAAAGTGGA	0.401												
C7orf58	79974	broad.mit.edu	37	7	120764394	120764394	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:120764393_120764393AT>A	uc003vjq.4	+	7	1374	c.927_927AT>A	c.(925-927)acafs	p.T309fs	C7orf58_uc003vjr.1_Frame_Shift_Del_p.T309fs|C7orf58_uc003vjs.4_Frame_Shift_Del_p.T309fs|C7orf58_uc003vjt.4_Frame_Shift_Del_p.T89fs|C7orf58_uc010lkk.2_Frame_Shift_Del_p.T89fs	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA.	309						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	66	all_neural(327;0.117)					AGCTGCAAACATTTTTTGAGA	0.398												
TMEM209	84928	broad.mit.edu	37	7	129813546	129813546	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:129813545_129813545CA>C	uc003vpn.2	-	12	1607	c.1484_1484TG>G	c.(1483-1485)tgcfs	p.C495fs	TMEM209_uc010lmc.1_Frame_Shift_Del_p.C453fs	NM_032842	NP_116231	Q96SK2	TM209_HUMAN	Homo sapiens transmembrane protein 209 (TMEM209), mRNA.	495						integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12	Melanoma(18;0.0435)					CTGATAAATGCAAAAAACATT	0.373												
DGKI	9162	broad.mit.edu	37	7	137148245	137148245	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:137148244_137148244CG>C	uc003vtt.3	-	27	2751	c.2750_2750CG>G	c.(2749-2751)cgcfs	p.R917fs	DGKI_uc003vtu.3_Intron	NM_004717	NP_004708	O75912	DGKI_HUMAN	Homo sapiens diacylglycerol kinase, iota (DGKI), mRNA.	917					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	p.R917H(2)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CTGTAGCACGCGGGAGTGGCT	0.532												
MLL3	58508	broad.mit.edu	37	7	151845524	151845524	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:151845523_151845523TA>T	uc003wla.3	-	51	13708	c.13489_13489TA>A	c.(13489-13491)aagfs	p.K4497fs	MLL3_uc003wkz.3_Frame_Shift_Del_p.K3615fs|MLL3_uc003wkx.3_Frame_Shift_Del_p.K655fs|MLL3_uc003wky.3_Frame_Shift_Del_p.K2061fs	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	4497					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	p.M4551fs*17(1)|p.M4494fs*17(1)		NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GTTTTGTCCTTAAAAAACATG	0.433			N		medulloblastoma							
INSIG1	3638	broad.mit.edu	37	7	155099961	155099962	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr7:155099960_155099961G>GA	uc003wly.3	+	5	1025_1026	c.814_815G>GA	c.(814-816)gaafs	p.E272fs	INSIG1_uc003wlz.3_3'UTR|INSIG1_uc011kvu.2_Frame_Shift_Ins_p.L143fs	NM_005542	NP_005533	O15503	INSI1_HUMAN	Homo sapiens insulin induced gene 1 (INSIG1), transcript variant 1, mRNA.	272					ER-nuclear sterol response pathway|cell proliferation	endoplasmic reticulum membrane|integral to membrane	protein binding	p.F272L(1)|p.P271S(1)		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)		GGGTGTTCCTGAAAAGCCCCAT	0.332												
KIAA1967	57805	broad.mit.edu	37	8	22473324	22473325	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:22473323_22473324A>AC	uc003xch.3	+	12	1755_1756	c.1506_1507A>AC	c.(1504-1509)ccacccfs	p.P502fs	KIAA1967_uc003xci.3_Frame_Shift_Ins_p.P502fs|KIAA1967_uc003xcj.1_Frame_Shift_Ins_p.P171fs	NM_021174	NP_066997	Q8N163	K1967_HUMAN	Homo sapiens KIAA1967 (KIAA1967), transcript variant 1, mRNA.	502					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5)	25		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		AGGCCCCTCCACCCCCCCTAGA	0.569												
RHOBTB2	23221	broad.mit.edu	37	8	22865592	22865592	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:22865591_22865591TG>T	uc003xcp.2	+	7	1936	c.1653_1653TG>T	c.(1651-1653)tttfs	p.F551fs	RHOBTB2_uc011kzp.1_Frame_Shift_Del_p.F536fs|RHOBTB2_uc003xcq.2_Frame_Shift_Del_p.F529fs|BC043400_uc003xcr.3_Non-coding_Transcript	NM_001160036	NP_055993	Q9BYZ6	RHBT2_HUMAN	Homo sapiens Rho-related BTB domain containing 2 (RHOBTB2), transcript variant 1, mRNA.	529	BTB 2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		CTGCCATGTTTGGGGGGCCAT	0.562												
ADAM28	10863	broad.mit.edu	37	8	24167707	24167709	+	In_Frame_Del	DEL	TAT	TAT	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:24167706_24167708ATAT>A	uc003xdy.3	+	3	341_343	c.258_260ATAT>A	c.(256-261)acatat>acAt	p.Y88del	ADAM28_uc003xdx.3_In_Frame_Del_p.Y88del|ADAM28_uc011kzz.2_5'UTR|ADAM28_uc011laa.2_Non-coding_Transcript	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	88					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		ACACGGAAACATATTATAATTCC	0.404												
SDR16C5	195814	broad.mit.edu	37	8	57219270	57219270	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:57219269_57219269TA>T	uc010lyk.1	-	4	1314	c.676_676TA>A	c.(676-678)atafs	p.I226fs	SDR16C5_uc003xsy.1_Frame_Shift_Del_p.I226fs|SDR16C5_uc010lyl.1_Frame_Shift_Del_p.I182fs	NM_138969	NP_620419	Q8N3Y7	RDHE2_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 16C, member 5 (SDR16C5), mRNA.	226					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						CCAGTTTTTATAAAAAAGGGG	0.323												
STAU2	27067	broad.mit.edu	37	8	74526000	74526000	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:74525999_74525999GT>G	uc003xzm.3	-	8	1212	c.871_871AC>C	c.(871-873)cgcfs	p.R291fs	STAU2_uc011lfh.2_Frame_Shift_Del_p.R187fs|STAU2_uc003xzn.3_Frame_Shift_Del_p.R259fs|STAU2_uc011lfg.2_Frame_Shift_Del_p.R119fs|STAU2_uc003xzo.3_Frame_Shift_Del_p.R291fs|STAU2_uc003xzq.3_Frame_Shift_Del_p.R71fs|STAU2_uc003xzp.3_Frame_Shift_Del_p.R259fs|STAU2_uc011lfi.2_Frame_Shift_Del_p.R253fs|STAU2_uc010lzk.3_Frame_Shift_Del_p.R259fs|STAU2_uc010lzl.1_Frame_Shift_Del_p.R119fs	NM_001164380	NP_001157855	Q9NUL3	STAU2_HUMAN	Homo sapiens staufen, RNA binding protein, homolog 2 (Drosophila) (STAU2), transcript variant 1, mRNA.	291					transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			GTTTTAGGGCGTTTTTTAAAA	0.343												
EIF3H	8667	broad.mit.edu	37	8	117669464	117669464	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:117669463_117669463GA>G	uc003yob.3	-	5	1357	c.590_590TC>C	c.(589-591)tccfs	p.S197fs	EIF3H_uc003yoa.3_Frame_Shift_Del_p.S183fs	NM_003756	NP_003747	O15372	EIF3H_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit H (EIF3H), mRNA.	183					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			large_intestine(2)|lung(10)|skin(1)	13	all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172)					CGCTTCAGGGGAAAAATCCTT	0.413												
KIAA0196	9897	broad.mit.edu	37	8	126094634	126094634	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:126094633_126094633GT>G	uc003yrt.3	-	3	738	c.409_409AC>C	c.(409-411)caafs	p.Q137fs	KIAA0196_uc011lir.2_5'UTR	NM_014846	NP_055661	Q12768	STRUM_HUMAN	Homo sapiens KIAA0196 (KIAA0196), mRNA.	137					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			ACTAGAAGTTGTTTTCCATCT	0.279												
KIFC2	90990	broad.mit.edu	37	8	145692709	145692709	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr8:145692708_145692708GC>G	uc003zcz.3	+	3	518	c.453_453GC>G	c.(451-453)cggfs	p.R151fs	CYHR1_uc003zcv.2_5'Flank|CYHR1_uc003zcw.2_5'Flank|CYHR1_uc003zcx.2_5'Flank|CYHR1_uc003zcy.2_5'Flank	NM_145754	NP_665697	Q96AC6	KIFC2_HUMAN	Homo sapiens kinesin family member C2 (KIFC2), mRNA.	151					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)			CTCGGGTCCGGCCCCCCTCTC	0.622											OREG0019057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
UBAP2	55833	broad.mit.edu	37	9	33944640	33944640	+	Splice_Site	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:33944639_33944639TA>T	uc003ztq.1	-	14	1384	c.1271_splice	c.e14-1	p.D424_splice	UBAP2_uc011loc.1_Splice_Site_p.D333_splice|UBAP2_uc011lod.1_Splice_Site_p.D157_splice|UBAP2_uc011loe.1_Splice_Site_p.D179_splice|UBAP2_uc011lof.1_Splice_Site_p.D349_splice|UBAP2_uc011log.1_Splice_Site_p.D370_splice|UBAP2_uc003ztr.2_Splice_Site_p.D296_splice|UBAP2_uc003zts.3_Splice_Site_p.D57_splice	NM_018449	NP_060919	Q5T6F2	UBAP2_HUMAN	Homo sapiens ubiquitin associated protein 2 (UBAP2), mRNA.	424										endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		ATTTGAAGTCTAAAAAAAGTA	0.438												
FAM122A	116224	broad.mit.edu	37	9	71395787	71395788	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:71395786_71395787GGT>G	uc004agw.1	+	0	823_824	c.706_707GGT>G	c.(706-708)ggtfs	p.G236fs	PIP5K1B_uc004agu.3_Intron|PIP5K1B_uc011lrq.2_Intron|PIP5K1B_uc004agv.3_Intron	NM_138333	NP_612206	Q96E09	F122A_HUMAN	Homo sapiens family with sequence similarity 122A (FAM122A), mRNA.	236										endometrium(1)|lung(2)	3						GTCAGATCCTGGTGTGTGTGTA	0.465												
TRPM3	80036	broad.mit.edu	37	9	73151922	73151923	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:73151921_73151922T>TA	uc004aid.3	-	24	4315_4316	c.4071_4072A>TA	c.(4069-4074)tttaaafs	p.F1357fs	TRPM3_uc004ahu.3_Frame_Shift_Ins_p.F1199fs|TRPM3_uc004ahv.3_Frame_Shift_Ins_p.F1159fs|TRPM3_uc004ahw.3_Frame_Shift_Ins_p.F1229fs|TRPM3_uc004ahx.3_Frame_Shift_Ins_p.F1216fs|TRPM3_uc004ahy.3_Frame_Shift_Ins_p.F1219fs|TRPM3_uc004ahz.3_Frame_Shift_Ins_p.F1206fs|TRPM3_uc004aia.3_Frame_Shift_Ins_p.F1204fs|TRPM3_uc004aib.3_Frame_Shift_Ins_p.F1194fs|TRPM3_uc004aic.3_Intron	NM_001007471	NP_066003	Q9HCF6	TRPM3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA.	1382						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GACCTTTCTTTAAAAATACTTT	0.470												
FRMD3	257019	broad.mit.edu	37	9	85914050	85914050	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:85914049_85914049TA>T	uc004ams.2	-	10	1181	c.979_979TA>A	c.(979-981)aaafs	p.K327fs	FRMD3_uc004amr.1_Frame_Shift_Del_p.K327fs|FRMD3_uc022bja.1_Frame_Shift_Del_p.K283fs|FRMD3_uc022biz.1_Frame_Shift_Del_p.K133fs	NM_174938	NP_777598	A2A2Y4	FRMD3_HUMAN	Homo sapiens FERM domain containing 3 (FRMD3), transcript variant 1, mRNA.	327						cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						CTACTTCCTTTAAAAAATATC	0.403												
NANS	54187	broad.mit.edu	37	9	100845320	100845320	+	Frame_Shift_Del	DEL	A	A	-	rs34624194		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:100845319_100845319CA>C	uc004ayc.3	+	5	1194	c.1062_1062CA>C	c.(1060-1062)ggcfs	p.G354fs	TRIM14_uc004ayd.2_Intron	NM_018946	NP_061819	Q9NR45	SIAS_HUMAN	Homo sapiens N-acetylneuraminic acid synthase (NANS), mRNA.	354					lipopolysaccharide biosynthetic process	cytoplasm	N-acetylneuraminate synthase activity|N-acylneuraminate cytidylyltransferase activity|N-acylneuraminate-9-phosphate synthase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	11		Acute lymphoblastic leukemia(62;0.0559)				ATAATCATGGCAAAAAAATCA	0.438												
C9orf80	58493	broad.mit.edu	37	9	115456516	115456516	+	Splice_Site	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:115456515_115456515TA>T	uc004bgg.3	-	3	203	c.26_splice	c.e3-1	p.G9_splice	C9orf80_uc010muk.3_Splice_Site	NM_021218	NP_067041	Q9NRY2	SOSSC_HUMAN	Homo sapiens chromosome 9 open reading frame 80 (C9orf80), mRNA.	9					DNA repair|response to ionizing radiation	SOSS complex	protein binding	p.?(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	4						TTTGAAAACCTAAAAAAAAGA	0.348												
TOR1B	27348	broad.mit.edu	37	9	132571788	132571788	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:132571787_132571787GT>G	uc004byk.1	+	4	996	c.936_936GT>G	c.(934-936)acgfs	p.T312fs		NM_014506	NP_055321	O14657	TOR1B_HUMAN	Homo sapiens torsin family 1, member B (torsin B) (TOR1B), mRNA.	312					chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen	ATP binding|nucleoside-triphosphatase activity|unfolded protein binding	p.M311T(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(7)	12		Ovarian(14;0.0586)				AGGAAATGACGTTTTTCCCCA	0.512												
TSC1	7248	broad.mit.edu	37	9	135804209	135804209	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr9:135804208_135804208TG>T	uc004cca.2	-	2	286	c.52_52CA>A	c.(52-54)atgfs	p.M18fs	TSC1_uc004ccb.3_Frame_Shift_Del_p.M18fs|TSC1_uc011mcq.1_Frame_Shift_Del_p.M18fs|TSC1_uc011mcr.2_Intron|TSC1_uc011mcs.1_5'UTR|TSC1_uc004ccc.1_Frame_Shift_Del_p.M18fs|TSC1_uc004cce.1_Frame_Shift_Del_p.M18fs	NM_000368	NP_000359	Q92574	TSC1_HUMAN	Homo sapiens tuberous sclerosis 1 (TSC1), transcript variant 1, mRNA.	18					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of TOR signaling cascade|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of translation|positive regulation of focal adhesion assembly|rRNA export from nucleus|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly	TSC1-TSC2 complex|cell cortex|lamellipodium|membrane	chaperone binding|protein N-terminus binding			NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		ACACCCAGCATGGGGGAGTCC	0.502			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis			
LARP4B	23185	broad.mit.edu	37	10	890939	890940	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:890938_890939GTT>G	uc001ifs.1	-	4	528_529	c.487_488AAC>C	c.(487-489)acafs	p.T163fs		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 4B (LARP4B), mRNA.	163	HTH La-type RNA-binding.						RNA binding|nucleotide binding	p.T163P(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						GAATTCCAATGTTTTTTTAAGT	0.351												
MYPN	84665	broad.mit.edu	37	10	69935180	69935180	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:69935179_69935179GA>G	uc001jnm.4	+	12	2849	c.2664_2664GA>G	c.(2662-2664)gggfs	p.G888fs	MYPN_uc001jnn.4_Frame_Shift_Del_p.G613fs|MYPN_uc001jno.4_Frame_Shift_Del_p.G888fs|MYPN_uc009xpt.3_Frame_Shift_Del_p.G888fs|MYPN_uc010qit.2_Frame_Shift_Del_p.G594fs|MYPN_uc010qiu.2_Intron	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN	Homo sapiens myopalladin (MYPN), transcript variant 1, mRNA.	888						nucleus|sarcomere	actin binding	p.G888G(2)		breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						GAGACTTGGGGAAAAAAATAA	0.363												
FRA10AC1	118924	broad.mit.edu	37	10	95459788	95459788	+	Splice_Site	DEL	T	T	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:95459787_95459787CT>C	uc001kiz.2	-	2	275	c.77_splice	c.e2+1	p.R26_splice	FRA10AC1_uc001kiv.2_Splice_Site|FRA10AC1_uc001kjb.1_Splice_Site_p.R26_splice|FRA10AC1_uc009xuh.1_Splice_Site_p.R27_splice	NM_145246	NP_660289	Q70Z53	F10C1_HUMAN	Homo sapiens fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1 (FRA10AC1), mRNA.	26						nucleus	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(1)	14						AATTACTTACCTTTTTTTCCT	0.308												
PYROXD2	84795	broad.mit.edu	37	10	100152769	100152769	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:100152768_100152768GC>G	uc001kpc.3	-	8	944	c.858_858GC>C	c.(856-858)ggcfs	p.G286fs	PYROXD2_uc001kpb.3_Non-coding_Transcript	NM_032709	NP_116098	Q8N2H3	PYRD2_HUMAN	Homo sapiens pyridine nucleotide-disulphide oxidoreductase domain 2 (PYROXD2), mRNA.	286							oxidoreductase activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						GGGCACCCATGCCCCCCTGGA	0.602												
C10orf120	399814	broad.mit.edu	37	10	124457495	124457495	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:124457494_124457494AT>A	uc001lgn.3	-	2	795	c.763_763AT>T	c.(763-765)tgtfs	p.C255fs		NM_001010912	NP_001010912	Q5SQS8	CJ120_HUMAN	Homo sapiens chromosome 10 open reading frame 120 (C10orf120), mRNA.	255										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				TATGTTAAACATTTTTTTGGT	0.388												
MTG1	92170	broad.mit.edu	37	10	135211971	135211971	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr10:135211970_135211970TA>T	uc001lnd.3	+	3	418	c.314_314TA>T	c.(313-315)ctafs	p.L105fs	MTG1_uc010qve.2_Frame_Shift_Del_p.L21fs	NM_138384	NP_612393	Q9BT17	MTG1_HUMAN	Homo sapiens mitochondrial GTPase 1 homolog (S. cerevisiae) (MTG1), nuclear gene encoding mitochondrial protein, mRNA.	105						mitochondrion	GTP binding|protein binding			endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|all cancers(32;1.69e-06)|Epithelial(32;1.94e-06)		GGAGAAGGCCTAAAAAATGTC	0.408												
TMEM41B	440026	broad.mit.edu	37	11	9308018	9308018	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:9308017_9308017TA>T	uc001mhm.3	-	5	1018	c.691_691TA>A	c.(691-693)attfs	p.I231fs	TMEM41B_uc001mhn.2_Frame_Shift_Del_p.I231fs	NM_015012	NP_055827	Q5BJD5	TM41B_HUMAN	Homo sapiens transmembrane protein 41B (TMEM41B), transcript variant 1, mRNA.	231						integral to membrane				kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(2)	7				all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972)		AAAGTACCAATAAAAAAAACT	0.363												
FOLH1	2346	broad.mit.edu	37	11	49179535	49179535	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:49179534_49179534CT>C	uc001ngy.3	-	13	1763	c.1502_1502AG>G	c.(1501-1503)agtfs	p.S501fs	FOLH1_uc009yly.3_Frame_Shift_Del_p.S486fs|FOLH1_uc009ylz.3_Frame_Shift_Del_p.S486fs|FOLH1_uc001ngz.3_Frame_Shift_Del_p.S501fs|FOLH1_uc009yma.3_Frame_Shift_Del_p.S193fs	NM_004476	NP_001180402	Q04609	FOLH1_HUMAN	Homo sapiens folate hydrolase (prostate-specific membrane antigen) 1 (FOLH1), transcript variant 1, mRNA.	501	NAALADase.				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	p.K500E(1)|p.S501fs*12(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	TGGGGAAGGACTTTTTTTAGT	0.348												
CTNND1	1500	broad.mit.edu	37	11	57569589	57569589	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:57569588_57569588TA>T	uc001nmc.4	+	6	1911	c.1340_1340TA>T	c.(1339-1341)atafs	p.I447fs	CTNND1_uc001nlf.2_Frame_Shift_Del_p.I447fs|CTNND1_uc021qjk.1_Frame_Shift_Del_p.I447fs|CTNND1_uc001nlh.1_Frame_Shift_Del_p.I447fs|CTNND1_uc001nlj.4_Frame_Shift_Del_p.I393fs|CTNND1_uc001nlq.4_Frame_Shift_Del_p.I346fs|CTNND1_uc001nlr.4_Frame_Shift_Del_p.I393fs|CTNND1_uc001nln.4_Frame_Shift_Del_p.I447fs|CTNND1_uc001nli.4_Frame_Shift_Del_p.I447fs|CTNND1_uc001nlo.4_Frame_Shift_Del_p.I346fs|CTNND1_uc001nlp.4_Frame_Shift_Del_p.I393fs|CTNND1_uc001nlu.4_Frame_Shift_Del_p.I346fs|CTNND1_uc001nlt.4_Frame_Shift_Del_p.I346fs|CTNND1_uc001nlv.4_Frame_Shift_Del_p.I346fs|CTNND1_uc001nls.4_Frame_Shift_Del_p.I346fs|CTNND1_uc001nlw.4_Frame_Shift_Del_p.I346fs|CTNND1_uc001nmf.4_Frame_Shift_Del_p.I447fs|CTNND1_uc001nlx.4_Frame_Shift_Del_p.I124fs|CTNND1_uc001nlz.4_Frame_Shift_Del_p.I124fs|CTNND1_uc009ymn.3_Frame_Shift_Del_p.I124fs|CTNND1_uc001nly.4_Frame_Shift_Del_p.I124fs|CTNND1_uc001nmb.4_Frame_Shift_Del_p.I124fs|CTNND1_uc001nma.4_Frame_Shift_Del_p.I124fs|CTNND1_uc001nmd.4_Frame_Shift_Del_p.I393fs|CTNND1_uc001nlk.4_Frame_Shift_Del_p.I393fs|CTNND1_uc001nme.4_Frame_Shift_Del_p.I447fs|CTNND1_uc001nll.4_Frame_Shift_Del_p.I393fs|CTNND1_uc001nlm.4_Frame_Shift_Del_p.I447fs|CTNND1_uc001nmi.4_Frame_Shift_Del_p.I346fs|CTNND1_uc001nmg.4_Frame_Shift_Del_p.I393fs|CTNND1_uc001nmh.4_Frame_Shift_Del_p.I447fs	NM_001085458	NP_001078932	O60716	CTND1_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 1 (CTNND1), transcript variant 1, mRNA.	447					Wnt receptor signaling pathway|adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				AAGATTGCCATAAAAAACTGT	0.468												
OR5B12	390191	broad.mit.edu	37	11	58207028	58207029	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:58207027_58207028C>CA	uc010rkh.2	-	0	619_620	c.597_598G>TG	c.(595-600)tttgtgfs	p.F199fs		NM_001004733	NP_001004733	Q96R08	OR5BC_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 12 (OR5B12), mRNA.	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F199fs*13(2)		large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AATCCCACCACAAAAAAAATAA	0.396												
MTA2	9219	broad.mit.edu	37	11	62365601	62365601	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:62365600_62365600TA>T	uc001ntq.2	-	5	776	c.386_386TA>A	c.(385-387)tacfs	p.Y129fs	MTA2_uc010rlx.1_5'UTR	NM_004739	NP_004730	O94776	MTA2_HUMAN	Homo sapiens metastasis associated 1 family, member 2 (MTA2), mRNA.	129	BAH.				chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						CACCAGTGAGTAAAAAAAGCA	0.517												
RAB1B	81876	broad.mit.edu	37	11	66039888	66039888	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:66039887_66039887CG>C	uc001ohf.3	+	3	330	c.235_235CG>C	c.(235-237)cggfs	p.R79fs	AK125412_uc001ohg.1_Non-coding_Transcript	NM_030981	NP_112243	Q9H0U4	RAB1B_HUMAN	Homo sapiens RAB1B, member RAS oncogene family (RAB1B), mRNA.	79	Switch 2 region; required for interaction with REP1/CHM.				protein transport|small GTPase mediated signal transduction	Golgi apparatus|membrane	GTP binding|protein binding			large_intestine(2)|lung(1)|ovary(1)|prostate(1)	5						CAGCTACTACCGGGGGGCTCA	0.582												
ANKRD42	338699	broad.mit.edu	37	11	82936075	82936075	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:82936074_82936074GA>G	uc010rsv.1	+	5	1186	c.764_764GA>G	c.(763-765)ggafs	p.G255fs	ANKRD42_uc001ozz.1_Frame_Shift_Del_p.G227fs|ANKRD42_uc001paa.3_Frame_Shift_Del_p.G255fs|ANKRD42_uc001pab.1_Frame_Shift_Del_p.G254fs			Q8N9B4	ANR42_HUMAN	Homo sapiens ankyrin repeat domain 42 (ANKRD42), mRNA.	227										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						GAGTATGAAGGAAAAGACCTA	0.338												
MRE11A	4361	broad.mit.edu	37	11	94189473	94189473	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:94189472_94189472AT>A	uc009ywj.2	-	13	1862	c.1542_1542AT>T	c.(1540-1542)aatfs	p.N514fs	MRE11A_uc001peu.2_Frame_Shift_Del_p.N511fs|MRE11A_uc001pev.2_Frame_Shift_Del_p.N511fs			P49959	MRE11_HUMAN	Homo sapiens MRE11 meiotic recombination 11 homolog A (S. cerevisiae) (MRE11A), transcript variant 1, mRNA.	511					DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				CTTCATTAGTATTTTTTTGTC	0.333								Homologous recombination	Ataxia-Telangiectasia-Like Disorder			
CEP57	9702	broad.mit.edu	37	11	95555113	95555113	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:95555112_95555112TA>T	uc001pfp.2	+	6	1015	c.777_777TA>T	c.(775-777)attfs	p.I259fs	CEP57_uc001pfo.2_Frame_Shift_Del_p.I259fs|CEP57_uc009ywn.2_Frame_Shift_Del_p.I107fs|CEP57_uc010ruh.2_Frame_Shift_Del_p.I250fs|CEP57_uc001pfq.2_Frame_Shift_Del_p.I259fs|CEP57_uc001pfr.2_Frame_Shift_Del_p.I107fs	NM_014679	NP_055494	Q86XR8	CEP57_HUMAN	Homo sapiens centrosomal protein 57kDa (CEP57), transcript variant 1, mRNA.	259					G2/M transition of mitotic cell cycle|fibroblast growth factor receptor signaling pathway|protein import into nucleus, translocation|spermatid development	Golgi apparatus|centrosome|cytosol|microtubule|nucleus	fibroblast growth factor binding|protein homodimerization activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CAAGAAGAATTAAAAAAAAGA	0.368									Mosaic Variegated Aneuploidy Syndrome			
DYNC2H1	79659	broad.mit.edu	37	11	103349969	103349970	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:103349968_103349969T>TA	uc001phn.1	+	89	13076_13077	c.12932_12933T>TA	c.(12931-12933)ctafs	p.L4311fs	DYNC2H1_uc009yxe.1_Frame_Shift_Ins_p.L917fs|DYNC2H1_uc001pho.2_Frame_Shift_Ins_p.L4304fs	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	4304					Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development	Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GCTCTATTCCTAAAAAATCAGT	0.391												
DDX6	1656	broad.mit.edu	37	11	118629614	118629615	+	Splice_Site	INS	-	-	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:118629613_118629614T>TG	uc001pub.2	-	9	1226	c.865_splice	c.e9-1	p.N289_splice	DDX6_uc001pua.2_5'UTR|DDX6_uc001puc.2_Splice_Site_p.N289_splice	NM_004397	NP_004388	P26196	DDX6_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 6 (DDX6), mRNA.	289	Helicase ATP-binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|stress granule	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|protein binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		ATGGGAATTCTGGGGGGGGAGC	0.426			T	IGH@	B-NHL							
JAM3	83700	broad.mit.edu	37	11	134018468	134018469	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr11:134018467_134018468T>TG	uc001qhb.2	+	6	897_898	c.873_874T>TG	c.(871-876)attgggfs	p.I291fs	JAM3_uc009zcz.2_Frame_Shift_Ins_p.I195fs	NM_032801	NP_116190	Q9BX67	JAM3_HUMAN	Homo sapiens junctional adhesion molecule 3 (JAM3), transcript variant 1, mRNA.	246					angiogenesis|blood coagulation|regulation of neutrophil chemotaxis	cell-cell contact zone|desmosome|extracellular space|integral to membrane	integrin binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)	10	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)		GCGGAATTATTGGGGGGGTTCT	0.485												
TNFRSF1A	7132	broad.mit.edu	37	12	6439819	6439821	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:6439818_6439820AGAG>A	uc001qnu.3	-	6	986_988	c.683_685CTCT>T	c.(682-687)ctcttc>cTtc	p.F229del	TNFRSF1A_uc001qnt.3_In_Frame_Del_p.F121del|TNFRSF1A_uc010sey.2_5'UTR|TNFRSF1A_uc010sez.2_In_Frame_Del_p.F121del|TNFRSF1A_uc009zek.3_In_Frame_Del_p.F186del	NM_001065	NP_001056	P19438	TNR1A_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 1A (TNFRSF1A), mRNA.	229					apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process	extracellular region|integral to plasma membrane|membrane raft	tumor necrosis factor receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						AAACCAATGAAGAGGAGGGATAA	0.557												
COPS7A	50813	broad.mit.edu	37	12	6839847	6839847	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:6839846_6839846TA>T	uc001qqj.3	+	6	887	c.648_648TA>T	c.(646-648)cttfs	p.L216fs	COPS7A_uc001qqh.3_Frame_Shift_Del_p.L216fs|COPS7A_uc001qqi.3_Frame_Shift_Del_p.L216fs|COPS7A_uc001qqn.4_Frame_Shift_Del_p.L216fs	NM_001164094	NP_057403	Q9UBW8	CSN7A_HUMAN	Homo sapiens COP9 constitutive photomorphogenic homolog subunit 7A (Arabidopsis) (COPS7A), transcript variant 2, mRNA.	216					cullin deneddylation	cytoplasm|signalosome				endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	10						TTGCCAACCTTAAAAAAACCA	0.542												
A2M	2	broad.mit.edu	37	12	9262560	9262560	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:9262559_9262559GA>G	uc001qvk.1	-	5	690	c.577_577TC>C	c.(577-579)cccfs	p.P193fs	A2M_uc009zgk.1_Frame_Shift_Del_p.P43fs	NM_000014	NP_000005	P01023	A2MG_HUMAN	Homo sapiens alpha-2-macroglobulin (A2M), mRNA.	193					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	GTPase activator activity|enzyme binding|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	GATGAGAGGGGAAAAGAAAAT	0.458												
ATF7IP	55729	broad.mit.edu	37	12	14576874	14576875	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:14576873_14576874G>GA	uc001rbw.3	+	1	182_183	c.24_25G>GA	c.(22-27)cagaaafs	p.Q8fs	ATF7IP_uc010shs.1_Frame_Shift_Ins_p.Q8fs|ATF7IP_uc001rbu.3_Frame_Shift_Ins_p.Q8fs|ATF7IP_uc001rbv.1_Frame_Shift_Ins_p.Q8fs|ATF7IP_uc001rbx.3_Frame_Shift_Ins_p.Q8fs|ATF7IP_uc010sht.1_Frame_Shift_Ins_p.Q8fs|ATF7IP_uc001rby.4_Frame_Shift_Ins_p.Q8fs|ATF7IP_uc001rbz.1_Frame_Shift_Ins_p.Q8fs|ATF7IP_uc001rca.3_Frame_Shift_Ins_p.Q8fs|ATF7IP_uc001rcb.3_5'Flank	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	Homo sapiens activating transcription factor 7 interacting protein (ATF7IP), mRNA.	8					DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						AAGAACCTCAGAAAAAAGTCTT	0.351												
C12orf60	144608	broad.mit.edu	37	12	14976481	14976481	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:14976480_14976480CA>C	uc001rcj.4	+	1	815	c.611_611CA>C	c.(610-612)acafs	p.T204fs	C12orf60_uc021qvq.1_Frame_Shift_Del_p.T204fs	NM_175874	NP_787070	Q5U649	CL060_HUMAN	Homo sapiens chromosome 12 open reading frame 60 (C12orf60), mRNA.	204										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	9						AAAAATCCCACAAAGTCAGCA	0.393												
IPO8	10526	broad.mit.edu	37	12	30818767	30818767	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:30818766_30818766AT>A	uc001rjd.3	-	11	1583	c.1235_1235AT>T	c.(1234-1236)atgfs	p.M412fs	IPO8_uc010sjt.2_Frame_Shift_Del_p.M207fs|IPO8_uc001rje.1_5'Flank	NM_006390	NP_006381	O15397	IPO8_HUMAN	Homo sapiens importin 8 (IPO8), transcript variant 1, mRNA.	412					intracellular protein transport|signal transduction	cytoplasm|nucleus	Ran GTPase binding|protein transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GAATGCCATCATTTTTGGCAA	0.363												
ALG10	84920	broad.mit.edu	37	12	34179326	34179326	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:34179325_34179325CT>C	uc001rlm.3	+	2	1216	c.897_897CT>C	c.(895-897)ctcfs	p.L299fs		NM_032834	NP_116223	Q5BKT4	AG10A_HUMAN	Homo sapiens asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (S. pombe) (ALG10), mRNA.	299					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	p.L299F(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				CATTTACTCTCTTTTTTTCCT	0.348												
ALG10B	144245	broad.mit.edu	37	12	38714473	38714473	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:38714472_38714472CT>C	uc001rln.4	+	2	1018	c.879_879CT>C	c.(877-879)tacfs	p.Y293fs		NM_001013620	NP_001013642	Q5I7T1	AG10B_HUMAN	Homo sapiens asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast) (ALG10B), mRNA.	293					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				AACTATTCTACTTTTTTTCAT	0.343												
SLC38A2	54407	broad.mit.edu	37	12	46758342	46758342	+	Splice_Site	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:46758341_46758341TA>T	uc001rpg.3	-	10	1146	c.706_splice	c.e10-1	p.V236_splice	SLC38A2_uc010sli.2_Splice_Site_p.V74_splice|SLC38A2_uc001rph.3_Splice_Site_p.V136_splice	NM_018976	NP_061849	Q96QD8	S38A2_HUMAN	Homo sapiens solute carrier family 38, member 2 (SLC38A2), mRNA.	236					cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		GCAAATGACCTAAAAATATAT	0.333												
SLC38A4	55089	broad.mit.edu	37	12	47170771	47170771	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:47170770_47170770AT>A	uc001rpi.2	-	12	1490	c.1091_1091AT>T	c.(1090-1092)atgfs	p.M364fs	SLC38A4_uc001rpj.2_Frame_Shift_Del_p.M364fs	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 1, mRNA.	364					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					CACCGTTTGCATTTTTCTCCG	0.368												
CCNT1	904	broad.mit.edu	37	12	49087682	49087682	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:49087681_49087681AT>A	uc001rsd.4	-	8	1639	c.1316_1316AT>T	c.(1315-1317)atgfs	p.M439fs	CCNT1_uc009zkz.2_Frame_Shift_Del_p.M154fs|CCNT1_uc021qxk.1_5'Flank	NM_001240	NP_001231	O60563	CCNT1_HUMAN	Homo sapiens cyclin T1 (CCNT1), mRNA.	439					cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						CTCTATGGGCATTTTTAGAAT	0.448												
GALNT6	11226	broad.mit.edu	37	12	51773457	51773459	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:51773456_51773458GCCT>G	uc001ryk.2	-	1	333_335	c.108_110AGGC>C	c.(106-111)gaggcc>gaCc	p.36_37EA>D	GALNT6_uc009zma.1_Non-coding_Transcript|GALNT6_uc001ryl.1_In_Frame_Del_p.36_37EA>D|GALNT6_uc010snh.1_In_Frame_Del_p.36_37EA>D	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) (GALNT6), mRNA.	36					protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CTTCTCTGTGGCCTCCTCTCTGC	0.601												
STAT2	6773	broad.mit.edu	37	12	56742817	56742818	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:56742816_56742817T>TG	uc001slc.3	-	16	1670_1671	c.1467_1468A>CA	c.(1465-1470)cccaagfs	p.P489fs	STAT2_uc001slb.3_Frame_Shift_Ins_p.P31fs|STAT2_uc001sld.3_Frame_Shift_Ins_p.P485fs|STAT2_uc010sqn.2_3'UTR	NM_005419	NP_005410	P52630	STAT2_HUMAN	Homo sapiens signal transducer and activator of transcription 2, 113kDa (STAT2), transcript variant 1, mRNA.	489					JAK-STAT cascade|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	DNA binding|calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						CAGGGGGCCTTGGGGGGGTTGG	0.594												
AVPR1A	552	broad.mit.edu	37	12	63541343	63541343	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:63541342_63541342TA>T	uc001sro.1	-	1	3028	c.1054_1054TA>A	c.(1054-1056)agtfs	p.S352fs		NM_000706	NP_000697	P37288	V1AR_HUMAN	Homo sapiens arginine vasopressin receptor 1A (AVPR1A), mRNA.	352					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	AGATGGCCACTAAAAAACATG	0.398												
SRGAP1	57522	broad.mit.edu	37	12	64491024	64491024	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:64491023_64491023GA>G	uc010ssp.1	+	14	1737	c.1681_1681GA>G	c.(1681-1683)gaafs	p.E561fs	SRGAP1_uc001srv.2_Frame_Shift_Del_p.E498fs	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 1 (SRGAP1), mRNA.	561	Rho-GAP.				axon guidance	cytosol		p.G560G(1)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		TTTTTTAGGTGAAAATCCTTT	0.348												
TBK1	29110	broad.mit.edu	37	12	64875701	64875701	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:64875700_64875700GT>G	uc001ssc.2	+	7	1050	c.891_891GT>G	c.(889-891)cagfs	p.Q297fs		NM_013254	NP_037386	Q9UHD2	TBK1_HUMAN	Homo sapiens TANK-binding kinase 1 (TBK1), mRNA.	297	Protein kinase.				I-kappaB kinase/NF-kappaB cascade|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	p.D296H(1)		breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		GTTTTGACCAGTTTTTTGCAG	0.348												
MDM2	4193	broad.mit.edu	37	12	69233090	69233090	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:69233089_69233089TC>T	uc021rad.1	+	9	1107	c.633_633TC>T	c.(631-633)aatfs	p.N211fs	MDM2_uc001sui.3_Frame_Shift_Del_p.N318fs|MDM2_uc009zqx.3_Frame_Shift_Del_p.N263fs|MDM2_uc001sun.4_Frame_Shift_Del_p.N137fs|MDM2_uc009zra.3_Frame_Shift_Del_p.N111fs|MDM2_uc021raf.1_Frame_Shift_Del_p.N2fs|MDM2_uc009zrc.3_Frame_Shift_Del_p.N2fs|MDM2_uc009zrd.3_Frame_Shift_Del_p.N2fs|MDM2_uc009zre.3_Frame_Shift_Del_p.N59fs|MDM2_uc001suo.3_Frame_Shift_Del_p.N112fs|MDM2_uc009zrf.3_Frame_Shift_Del_p.N2fs|MDM2_uc009zrg.3_Frame_Shift_Del_p.N34fs|MDM2_uc009zrh.3_Frame_Shift_Del_p.N86fs|MDM2_uc021rag.1_Non-coding_Transcript|MDM2_uc021rah.1_Frame_Shift_Del_p.N282fs|MDM2_uc021rai.1_Frame_Shift_Del_p.N2fs|MDM2_uc021raj.1_Frame_Shift_Del_p.N2fs			Q00987	MDM2_HUMAN	Homo sapiens Mdm2 p53 binding protein homolog (mouse) (MDM2), transcript variant MDM2, mRNA.	312	ARF-binding.|Interaction with MTBP (By similarity).|Interaction with PYHIN1.|Poly-Ser.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|cellular response to hypoxia|establishment of protein localization|interspecies interaction between organisms|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			ATGAAATGAATCCCCCCCTTC	0.428			A		"""sarcoma, glioma, colorectal, other"""							
TSPAN8	7103	broad.mit.edu	37	12	71523157	71523157	+	Frame_Shift_Del	DEL	T	T	-	rs139952436	by1000genomes	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:71523156_71523156AT>A	uc009zrt.1	-	6	777	c.615_615AT>T	c.(613-615)aatfs	p.N205fs	TSPAN8_uc001swk.1_Frame_Shift_Del_p.N205fs|TSPAN8_uc001swj.1_Frame_Shift_Del_p.N205fs	NM_004616	NP_004607	P19075	TSN8_HUMAN	Homo sapiens tetraspanin 8 (TSPAN8), mRNA.	205					protein glycosylation	integral to membrane|lysosome	signal transducer activity			breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			CTATAATCAAATTTTTTGCCA	0.269												
CEP290	80184	broad.mit.edu	37	12	88443073	88443075	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:88443072_88443074CTCT>C	uc001tar.3	-	53	7671_7673	c.7327_7329AGAG>G	c.(7327-7329)gag>G	p.E2443del	CEP290_uc001taq.3_In_Frame_Del_p.E1503del|C12orf29_uc001tao.3_3'UTR|C12orf29_uc001tap.3_Non-coding_Transcript|C12orf29_uc009zsk.3_Non-coding_Transcript	NM_025114	NP_079390	O15078	CE290_HUMAN	Homo sapiens centrosomal protein 290kDa (CEP290), mRNA.	2443					G2/M transition of mitotic cell cycle|cilium assembly|eye photoreceptor cell development|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TTTTTACCTTCTCTTCTAAGAGA	0.315												
USP44	84101	broad.mit.edu	37	12	95927128	95927128	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:95927127_95927127TA>T	uc001teg.3	-	1	1050	c.906_906TA>A	c.(904-906)ttafs	p.L302fs	USP44_uc001teh.3_Frame_Shift_Del_p.L302fs|USP44_uc009zte.3_Frame_Shift_Del_p.L299fs	NM_001042403	NP_115523	Q9H0E7	UBP44_HUMAN	Homo sapiens ubiquitin specific peptidase 44 (USP44), transcript variant 2, mRNA.	302					anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						GATCAAGCTTTAAAAAACATT	0.373												
C12orf63	374467	broad.mit.edu	37	12	97078974	97078974	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:97078973_97078973TG>T	uc021rcc.1	+	8	1324	c.1246_1246TG>T	c.(1246-1248)tggfs	p.W416fs				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	416										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						AGTTGGCATCTGGGGGTGTTT	0.502												
MTERFD3	80298	broad.mit.edu	37	12	107371846	107371846	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:107371845_107371845GT>G	uc001tme.1	-	1	2467	c.648_648AC>C	c.(646-648)aacfs	p.N216fs	MTERFD3_uc001tmf.1_Frame_Shift_Del_p.N216fs|MTERFD3_uc001tmg.1_Frame_Shift_Del_p.N216fs|MTERFD3_uc021rdh.1_Frame_Shift_Del_p.N216fs|MTERFD3_uc001tmh.1_Frame_Shift_Del_p.N216fs	NM_025198	NP_079474	Q49AM1	MTER3_HUMAN	Homo sapiens MTERF domain containing 3 (MTERFD3), transcript variant 2, mRNA.	216					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	transcription regulatory region DNA binding	p.N216T(1)		breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						AAATAAATGGGTTTTGGCTTA	0.378												
ERP29	10961	broad.mit.edu	37	12	112460288	112460289	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:112460287_112460288T>TG	uc001ttk.1	+	2	735_736	c.617_618T>TG	c.(616-618)atgfs	p.M206fs	ERP29_uc001ttl.1_3'UTR	NM_006817	NP_006808	P30040	ERP29_HUMAN	Homo sapiens endoplasmic reticulum protein 29 (ERP29), transcript variant 1, mRNA.	206					intracellular protein transport|protein folding|protein secretion	endoplasmic reticulum lumen|melanosome	protein disulfide isomerase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	5						CTGAAGATCATGGGGAAGATCT	0.545												
OAS2	4939	broad.mit.edu	37	12	113433214	113433214	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:113433213_113433213GT>G	uc001tuj.3	+	2	701	c.561_561GT>G	c.(559-561)aagfs	p.K187fs	OAS2_uc001tui.1_Frame_Shift_Del_p.K187fs	NM_016817	NP_058197	P29728	OAS2_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 2, 69/71kDa (OAS2), transcript variant 1, mRNA.	187	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|RNA binding|nucleotidyltransferase activity			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						TCCAGCAGAAGTTTTTTGACA	0.423												
CLIP1	6249	broad.mit.edu	37	12	122773037	122773037	+	Splice_Site	DEL	T	T	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:122773036_122773036CT>C	uc001ucg.2	-	21	3802	c.3647_splice	c.e21+1	p.R1216_splice	CLIP1_uc001uch.1_Splice_Site_p.R1205_splice|CLIP1_uc001uci.1_Splice_Site_p.R1170_splice|CLIP1_uc001ucj.1_Splice_Site_p.R791_splice	NM_001247997	NP_001234926	P30622	CLIP1_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 1 (CLIP1), transcript variant 3, mRNA.	1216					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		GAAAGCTTACCTTTTTTTCAT	0.328												
UBC	7316	broad.mit.edu	37	12	125396267	125396267	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:125396266_125396266AC>A	uc001ugs.4	-	1	2510	c.2052_2052GT>T	c.(2050-2052)ggtfs	p.G684fs	UBC_uc001ugr.3_Non-coding_Transcript|UBC_uc001ugt.3_Frame_Shift_Del_p.G532fs|UBC_uc001ugu.1_Frame_Shift_Del_p.G608fs|UBC_uc001ugv.3_Frame_Shift_Del_p.G152fs|UBC_uc021rge.1_Frame_Shift_Del_p.G684fs	NM_021009	NP_066289	P0CG48	UBC_HUMAN	Homo sapiens ubiquitin C (UBC), mRNA.	684	Ubiquitin-like 9.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|JNK cascade|M/G1 transition of mitotic cell cycle|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|S phase of mitotic cell cycle|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|innate immune response|mRNA metabolic process|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		AAACTTAGACACCCCCCCTCA	0.413												
UBC	7316	broad.mit.edu	37	12	125397670	125397671	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr12:125397669_125397670ACT>A	uc001ugs.4	-	1	1106_1107	c.648_649AGT>T	c.(646-651)gagtccfs	p.E216fs	UBC_uc001ugr.3_5'Flank|UBC_uc001ugt.3_Frame_Shift_Del_p.E216fs|UBC_uc001ugu.1_Frame_Shift_Del_p.E216fs|UBC_uc001ugv.3_Intron|UBC_uc021rge.1_Frame_Shift_Del_p.E216fs|UBC_uc001ugw.3_Frame_Shift_Del_p.E64fs	NM_021009	NP_066289	P0CG48	UBC_HUMAN	Homo sapiens ubiquitin C (UBC), mRNA.	216	Ubiquitin-like 3.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|JNK cascade|M/G1 transition of mitotic cell cycle|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|S phase of mitotic cell cycle|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|innate immune response|mRNA metabolic process|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TGCAAGGTGGACTCTTTCTGGA	0.510												
BRCA2	675	broad.mit.edu	37	13	32911443	32911443	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:32911442_32911442GA>G	uc001uub.1	+	10	3177	c.2950_2950GA>G	c.(2950-2952)gaafs	p.E984fs		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	984	Interaction with NPM1.				cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TAAAATACCAGAAAAAAATAA	0.333			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)		
SPG20	23111	broad.mit.edu	37	13	36909272	36909273	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:36909271_36909272C>CA	uc001uvn.3	-	2	966_967	c.696_697G>TG	c.(694-699)tttgtafs	p.F232fs	SPG20_uc010ten.2_Frame_Shift_Ins_p.F232fs|SPG20_uc001uvm.3_Frame_Shift_Ins_p.F232fs|SPG20_uc001uvo.3_Frame_Shift_Ins_p.F232fs|SPG20_uc001uvq.3_Frame_Shift_Ins_p.F232fs|SPG20_uc001uvp.2_Frame_Shift_Ins_p.F232fs	NM_001142296	NP_055902	Q8N0X7	SPG20_HUMAN	Homo sapiens spastic paraplegia 20 (Troyer syndrome) (SPG20), transcript variant 2, mRNA.	232					cell death	cytoplasm	ubiquitin protein ligase binding	p.F231C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		GCAGGATTTACAAAAAAAATCT	0.436												
DGKH	160851	broad.mit.edu	37	13	42729890	42729891	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:42729889_42729890CAG>C	uc001uyl.2	+	4	643_644	c.576_577CAG>C	c.(574-579)tgcagafs	p.C192fs	DGKH_uc010tfh.2_Frame_Shift_Del_p.C192fs|DGKH_uc001uym.2_Frame_Shift_Del_p.C192fs|DGKH_uc001uyn.2_Non-coding_Transcript|DGKH_uc010tfi.2_Frame_Shift_Del_p.A25fs|DGKH_uc001uyo.2_Frame_Shift_Del_p.C56fs|DGKH_uc010tfj.2_Frame_Shift_Del_p.C56fs|DGKH_uc001uyp.3_Non-coding_Transcript	NM_178009	NP_821077	Q86XP1	DGKH_HUMAN	Homo sapiens diacylglycerol kinase, eta (DGKH), transcript variant 2, mRNA.	192					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	p.V191M(1)		breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		GTAACGTGTGCAGAGAGAGTCT	0.515												
CPB2	1361	broad.mit.edu	37	13	46658431	46658431	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:46658430_46658430GT>G	uc001vaw.3	-	2	266	c.199_199AC>C	c.(199-201)caafs	p.Q67fs	AK124928_uc001vau.1_Intron|AK124928_uc001vav.1_Intron|CPB2_uc001vax.3_Frame_Shift_Del_p.Q67fs	NM_001872	NP_001863	Q96IY4	CBPB2_HUMAN	Homo sapiens carboxypeptidase B2 (plasma) (CPB2), transcript variant 1, mRNA.	67					blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		AAATGGACTTGTTTTTTCTTC	0.378												
SETDB2	83852	broad.mit.edu	37	13	50065970	50065970	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:50065969_50065969GA>G	uc001vcz.3	+	14	3050	c.2144_2144GA>G	c.(2143-2145)agafs	p.R715fs	SETDB2_uc001vda.3_Frame_Shift_Del_p.R703fs	NM_031915	NP_114121	Q96T68	SETB2_HUMAN	Homo sapiens SET domain, bifurcated 2 (SETDB2), transcript variant 1, mRNA.	715					cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		AATAAATGTAGAAAAAAAATA	0.373												
KPNA3	3839	broad.mit.edu	37	13	50279819	50279819	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:50279818_50279818GT>G	uc001vdj.2	-	14	1726	c.1311_1311AC>C	c.(1309-1311)aacfs	p.N437fs		NM_002267	NP_002258	O00505	IMA3_HUMAN	Homo sapiens karyopherin alpha 3 (importin alpha 4) (KPNA3), mRNA.	437					NLS-bearing substrate import into nucleus|interspecies interaction between organisms|protein complex assembly	cytoplasm|nuclear pore	nuclear localization sequence binding|protein transporter activity			cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(4)	21		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.42e-09)		TTATCAGAATGTTTTTTAGAC	0.398												
GAS6	2621	broad.mit.edu	37	13	114542718	114542718	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr13:114542717_114542717GC>G	uc001vud.3	-	4	603	c.450_450GC>C	c.(448-450)ggcfs	p.G150fs	FLJ41484_uc010tki.2_5'Flank	NM_000820	NP_001137417	Q14393	GAS6_HUMAN	Homo sapiens growth arrest-specific 6 (GAS6), transcript variant 1, mRNA.	150	EGF-like 1; calcium-binding (Potential).				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	Golgi lumen|endoplasmic reticulum lumen|extracellular space|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				CGCAGAGCCGGCCCCCCCAGC	0.647												
OR4K1	79544	broad.mit.edu	37	14	20403904	20403904	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:20403903_20403903CT>C	uc001vwj.2	+	0	137	c.78_78CT>C	c.(76-78)ttcfs	p.F26fs		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA.	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F26L(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TTCAACTTTTCTTTTTTGCCA	0.368												
TINF2	26277	broad.mit.edu	37	14	24709343	24709344	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:24709342_24709343GCA>G	uc001woa.4	-	7	1490_1491	c.1148_1149TGC>C	c.(1147-1149)tgcfs	p.C383fs	TINF2_uc010alm.3_3'UTR|TINF2_uc001wob.4_3'UTR|TINF2_uc010tof.2_Frame_Shift_Del_p.C348fs|TINF2_uc001woc.4_3'UTR	NM_001099274	NP_001092744	Q9BSI4	TINF2_HUMAN	Homo sapiens TERF1 (TRF1)-interacting nuclear factor 2 (TINF2), transcript variant 1, mRNA.	383					negative regulation of epithelial cell proliferation|negative regulation of protein ADP-ribosylation|negative regulation of telomere maintenance via telomerase|positive regulation of telomere maintenance|protein localization to chromosome, telomeric region|telomere assembly|telomere maintenance via telomere lengthening	nuclear telomere cap complex|nucleoplasm|perinucleolar chromocenter	protein binding|telomeric DNA binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0185)		TGACGGAGCTGCACAGAGACGG	0.505									Congenital Dyskeratosis;Ataxia Pancytopenia syndrome			
TGM1	7051	broad.mit.edu	37	14	24718610	24718610	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:24718609_24718609TG>T	uc001wod.3	-	14	2488	c.2364_2364CA>A	c.(2362-2364)ccafs	p.P788fs	TGM1_uc010tog.2_Frame_Shift_Del_p.P346fs	NM_000359	NP_000350	P22735	TGM1_HUMAN	Homo sapiens transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase) (TGM1), mRNA.	788					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	CCCCAGGGGCTGGGGCCACAT	0.632												
KLHL28	54813	broad.mit.edu	37	14	45414534	45414534	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:45414533_45414533TA>T	uc001wvq.3	-	1	845	c.599_599TA>A	c.(598-600)tatfs	p.Y200fs	KLHL28_uc001wvr.3_Frame_Shift_Del_p.Y200fs|KLHL28_uc001wvt.4_Frame_Shift_Del_p.Y200fs	NM_017658	NP_060128	Q9NXS3	KLH28_HUMAN	Homo sapiens kelch-like 28 (Drosophila) (KLHL28), mRNA.	200										breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CTCTAATGCATAAAAAACAGT	0.368												
WDHD1	11169	broad.mit.edu	37	14	55433239	55433239	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:55433238_55433238AT>A	uc001xbm.2	-	17	2355	c.2265_2265AT>T	c.(2263-2265)aatfs	p.N755fs	WDHD1_uc010aom.2_Frame_Shift_Del_p.N272fs|WDHD1_uc001xbn.2_Frame_Shift_Del_p.N632fs	NM_007086	NP_009017	O75717	WDHD1_HUMAN	Homo sapiens WD repeat and HMG-box DNA binding protein 1 (WDHD1), transcript variant 1, mRNA.	755						cytoplasm|nucleoplasm	DNA binding			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						TTGTTGCTTGATTTTTAGTGC	0.303												
SYNE2	23224	broad.mit.edu	37	14	64519480	64519480	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:64519479_64519479GA>G	uc001xgl.3	+	47	9078	c.8848_8848GA>G	c.(8848-8850)gaafs	p.E2950fs	SYNE2_uc001xgm.3_Frame_Shift_Del_p.E2950fs|SYNE2_uc021ruh.1_Frame_Shift_Del_p.E2983fs	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	2950					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ACAATTCCATGAAAAAACATC	0.338												
SYNE2	23224	broad.mit.edu	37	14	64519888	64519888	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:64519887_64519887AT>A	uc001xgl.3	+	47	9486	c.9256_9256AT>A	c.(9256-9258)attfs	p.I3086fs	SYNE2_uc001xgm.3_Frame_Shift_Del_p.I3086fs|SYNE2_uc021ruh.1_Frame_Shift_Del_p.I3119fs|SYNE2_uc010apw.1_5'Flank	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	3086					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CAATGCCCAAATTTTAAGTCA	0.338												
SYNE2	23224	broad.mit.edu	37	14	64634076	64634081	+	In_Frame_Del	DEL	GGCCAC	GGCCAC	-	rs143231145	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:64634075_64634080GGGCCAC>G	uc001xgl.3	+	90	16960_16965	c.16730_16735GGGCCAC>G	c.(16729-16737)cgggccacg>cGcg	p.AT5580del	SYNE2_uc001xgm.3_In_Frame_Del_p.AT5580del|SYNE2_uc010apy.3_In_Frame_Del_p.AT1965del|SYNE2_uc001xgn.3_In_Frame_Del_p.AT542del|SYNE2_uc021rui.1_In_Frame_Del_p.AT500del|SYNE2_uc001xgo.3_Non-coding_Transcript|SYNE2_uc010aqa.3_5'UTR|SYNE2_uc001xgq.3_5'Flank	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	5580					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CAATGGATTCGGGCCACGGCCACGGC	0.466												
C14orf43	91748	broad.mit.edu	37	14	74206606	74206607	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:74206605_74206606T>TG	uc010tud.1	-	0	353_354	c.106_107A>CA	c.(106-108)cagfs	p.Q36fs	C14orf43_uc001xot.3_Frame_Shift_Ins_p.Q36fs|C14orf43_uc001xou.3_Frame_Shift_Ins_p.Q36fs|C14orf43_uc010arw.2_Non-coding_Transcript	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	Homo sapiens chromosome 14 open reading frame 43 (C14orf43), transcript variant 1, mRNA.	36					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(4)	37				BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)		GATGGACTGCTGGGGGGGCTGC	0.668												
EML5	161436	broad.mit.edu	37	14	89154769	89154769	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:89154768_89154768AT>A	uc021ryf.1	-	17	2838	c.2589_2589AT>T	c.(2587-2589)aatfs	p.N863fs	EML5_uc021ryg.1_Frame_Shift_Del_p.N863fs|EML5_uc001xxh.1_Intron	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	Homo sapiens echinoderm microtubule associated protein like 5 (EML5), mRNA.	863						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TCATTGTGTCATTTTTCCCCA	0.393												
BTBD7	55727	broad.mit.edu	37	14	93730184	93730184	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:93730183_93730183TA>T	uc001ybo.3	-	3	1645	c.1319_1319TA>A	c.(1318-1320)tatfs	p.Y440fs	BTBD7_uc010aur.3_Intron|BTBD7_uc010two.2_Intron|BTBD7_uc001ybp.3_Frame_Shift_Del_p.Y89fs|BTBD7_uc001ybq.4_Frame_Shift_Del_p.Y355fs	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	Homo sapiens BTB (POZ) domain containing 7 (BTBD7), transcript variant 1, mRNA.	440										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		GCTGAGTTCATAAAAAACATC	0.423												
SERPINA1	5265	broad.mit.edu	37	14	94844885	94844885	+	Frame_Shift_Del	DEL	G	G	-	rs121912712		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr14:94844884_94844884CG>C	uc001ycy.4	-	6	1713	c.1159_1159CG>G	c.(1159-1161)gagfs	p.E387fs	SERPINA1_uc001ycw.4_Non-coding_Transcript|SERPINA1_uc001ycx.4_Frame_Shift_Del_p.E387fs|SERPINA1_uc010auy.3_Frame_Shift_Del_p.E387fs|SERPINA1_uc001ycz.4_Frame_Shift_Del_p.E387fs|SERPINA1_uc010auz.3_Frame_Shift_Del_p.E387fs|SERPINA1_uc010ava.3_Frame_Shift_Del_p.E387fs|SERPINA1_uc001ydb.4_Frame_Shift_Del_p.E387fs|SERPINA1_uc010avb.3_Frame_Shift_Del_p.E387fs|SERPINA1_uc001ydc.4_Frame_Shift_Del_p.E387fs|SERPINA1_uc010auw.3_Frame_Shift_Del_p.E387fs|SERPINA1_uc010aux.3_Frame_Shift_Del_p.E387fs	NM_001002236	NP_001121179	P01009	A1AT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 (SERPINA1), transcript variant 2, mRNA.	387	RCL.		E -> K (in Christchurch).		acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	AACTTGACCTCGGGGGGGATA	0.488												
CASC5	57082	broad.mit.edu	37	15	40917785	40917786	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:40917784_40917785G>GA	uc010bbs.1	+	10	5561_5562	c.5400_5401G>GA	c.(5398-5403)gagaaafs	p.E1800fs	CASC5_uc010ucq.1_Frame_Shift_Ins_p.E1624fs|CASC5_uc001zme.3_Frame_Shift_Ins_p.E1774fs|CASC5_uc010bbt.1_Frame_Shift_Ins_p.E1774fs	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	Homo sapiens cancer susceptibility candidate 5 (CASC5), transcript variant 1, mRNA.	1800					CenH3-containing nucleosome assembly at centromere|acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding	p.E1800Q(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		TTCATAAGGAGAAAAAAATCAG	0.337												
MAP1A	4130	broad.mit.edu	37	15	43819858	43819858	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:43819857_43819857TC>T	uc001zrt.3	+	3	6653	c.6186_6186TC>T	c.(6184-6186)gttfs	p.V2062fs		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	2062						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CACCTGCAGTTCCCCCCCGTG	0.612												
NOX5	79400	broad.mit.edu	37	15	69331226	69331226	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:69331225_69331225CT>C	uc002ars.2	+	8	1441	c.1400_1400CT>C	c.(1399-1401)cctfs	p.P467fs	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Frame_Shift_Del_p.P421fs|NOX5_uc002arp.2_Frame_Shift_Del_p.P449fs|NOX5_uc010bid.2_Frame_Shift_Del_p.P432fs|NOX5_uc010bie.2_Frame_Shift_Del_p.P267fs|NOX5_uc002arr.2_Frame_Shift_Del_p.P439fs|NOX5_uc010bif.2_Intron	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA.	467	C-terminal catalytic region.|FAD-binding FR-type.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						AAGCGGCCCCCTTTTTTTCAC	0.542												
SIN3A	25942	broad.mit.edu	37	15	75684749	75684749	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:75684748_75684748TA>T	uc002bai.3	-	14	2945	c.2686_2686TA>A	c.(2686-2688)atgfs	p.M896fs	SIN3A_uc002baj.3_Frame_Shift_Del_p.M896fs|SIN3A_uc010uml.2_Frame_Shift_Del_p.M896fs	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN	Homo sapiens SIN3 transcription regulator homolog A (yeast) (SIN3A), transcript variant 2, mRNA.	896					blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	Sin3 complex|nucleolus	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						TGCAGTCGCATAAAAATATAC	0.423												
FAH	2184	broad.mit.edu	37	15	80464493	80464493	+	Splice_Site	DEL	T	T	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:80464492_80464492CT>C	uc002bfm.2	+	8	771	c.607_splice	c.e8-1	p.A203_splice	FAH_uc002bfn.2_Splice_Site_p.A133_splice	NM_000137	NP_000128	P16930	FAAA_HUMAN	Homo sapiens fumarylacetoacetate hydrolase (fumarylacetoacetase) (FAH), mRNA.	203					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	fumarylacetoacetase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCATGTAAGGCTTTTTTTGTA	0.498									Tyrosinemia, type 1			
AKAP13	11214	broad.mit.edu	37	15	86287017	86287017	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr15:86287016_86287016GA>G	uc002blv.1	+	35	8522	c.8352_8352GA>G	c.(8350-8352)gagfs	p.E2784fs	AKAP13_uc002blu.1_Frame_Shift_Del_p.E2788fs|AKAP13_uc002blw.1_Frame_Shift_Del_p.E1249fs|AKAP13_uc002blx.1_Frame_Shift_Del_p.E1029fs	NM_007200	NP_009131	Q12802	AKP13_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA.	2784	Interaction with ESR1.|Poly-Lys.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	Rho guanyl-nucleotide exchange factor activity|cAMP-dependent protein kinase activity|metal ion binding|protein binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AAAAGAAGGAGAAAAAAAAGA	0.547												
RSL1D1	26156	broad.mit.edu	37	16	11931668	11931668	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:11931667_11931667GT>G	uc002dbp.1	-	8	1523	c.1450_1450AC>C	c.(1450-1452)cccfs	p.P484fs	RSL1D1_uc010buv.1_Frame_Shift_Del_p.P483fs|RSL1D1_uc010uyw.1_Frame_Shift_Del_p.P264fs	NM_015659	NP_056474	O76021	RL1D1_HUMAN	Homo sapiens ribosomal L1 domain containing 1 (RSL1D1), mRNA.	484					regulation of protein localization|translation	large ribosomal subunit|nucleolus	RNA binding|protein binding|structural constituent of ribosome			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						GGTACTTTGGGTTTTTTGGGC	0.473												
KIAA0430	9665	broad.mit.edu	37	16	15727651	15727651	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:15727650_15727650TG>T	uc002ddr.3	-	4	1264	c.1057_1057CA>A	c.(1057-1059)attfs	p.I353fs	KIAA0430_uc002ddq.3_Frame_Shift_Del_p.I352fs|KIAA0430_uc010uzv.2_Frame_Shift_Del_p.I350fs|KIAA0430_uc010uzw.2_Frame_Shift_Del_p.I353fs	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	Homo sapiens KIAA0430 (KIAA0430), transcript variant 1, mRNA.	352						peroxisome	RNA binding|nucleotide binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						AAAACTCCAATGGGGGGTAAG	0.428												
MYH11	4629	broad.mit.edu	37	16	15835710	15835712	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:15835709_15835711TCTC>T	uc002ddx.3	-	21	2686_2688	c.2579_2581GAGA>A	c.(2578-2583)gagatg>gAtg	p.860_861EM>D	MYH11_uc002ddv.3_In_Frame_Del_p.860_861EM>D|MYH11_uc002ddw.3_In_Frame_Del_p.853_854EM>D|MYH11_uc002ddy.3_In_Frame_Del_p.853_854EM>D|MYH11_uc010bvg.3_In_Frame_Del_p.685_686EM>D	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	853					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TTGGCCTGCATCTCCTCCTCCTG	0.517			T	CBFB	AML							
C16orf88	400506	broad.mit.edu	37	16	19725908	19725908	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:19725907_19725907GT>G	uc002dgq.3	-	1	466	c.451_451AC>C	c.(451-453)cacfs	p.H151fs	IQCK_uc002dgr.3_5'Flank|IQCK_uc002dgs.3_5'Flank	NM_001012991	NP_001013009	Q1ED39	CP088_HUMAN	Homo sapiens chromosome 16 open reading frame 88 (C16orf88), mRNA.	151	Lys-rich.					nucleolus				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	13						TCCTTCTTGTGTTTTTTGAGC	0.567												
PDILT	204474	broad.mit.edu	37	16	20396001	20396001	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:20396000_20396000CA>C	uc002dhc.1	-	2	599	c.376_376TG>G	c.(376-378)gagfs	p.E126fs		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	Homo sapiens protein disulfide isomerase-like, testis expressed (PDILT), mRNA.	126					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						CTGTTGCCCTCAAAAAACAGC	0.478												
DNAH3	55567	broad.mit.edu	37	16	21080787	21080787	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:21080786_21080786TC>T	uc010vbe.2	-	22	3331	c.3331_3331GA>A	c.(3331-3333)aggfs	p.R1111fs		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1111	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CCAAATTTCCTCCCCTCTTCT	0.428												
RBL2	5934	broad.mit.edu	37	16	53487517	53487517	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:53487516_53487516GA>G	uc002ehi.4	+	5	1037	c.919_919GA>G	c.(919-921)gaafs	p.E307fs	RBL2_uc010vgv.1_Frame_Shift_Del_p.E233fs|RBL2_uc002ehj.3_5'UTR|RBL2_uc010vgw.2_Frame_Shift_Del_p.E91fs	NM_005611	NP_005602	Q08999	RBL2_HUMAN	Homo sapiens retinoblastoma-like 2 (p130) (RBL2), mRNA.	307					cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GAAACTTTATGAAAAAAAGGT	0.333												
WWOX	51741	broad.mit.edu	37	16	78198099	78198099	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:78198098_78198098CT>C	uc002ffk.3	+	4	777	c.428_428CT>C	c.(427-429)tctfs	p.S143fs	WWOX_uc002ffl.3_Frame_Shift_Del_p.S143fs|WWOX_uc010che.3_Intron|WWOX_uc010vnk.2_Frame_Shift_Del_p.S30fs|WWOX_uc002ffj.2_Frame_Shift_Del_p.S143fs	NM_016373	NP_057457	Q9NZC7	WWOX_HUMAN	Homo sapiens WW domain containing oxidoreductase (WWOX), transcript variant 1, mRNA.	143	Interaction with MAPT (By similarity).				Wnt receptor signaling pathway|apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity	p.K142M(1)		large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		ACCGCCAAGTCTTTTGCCCTC	0.463												
KIAA0182	23199	broad.mit.edu	37	16	85682290	85682291	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr16:85682289_85682290A>AC	uc002fix.3	+	2	432_433	c.358_359A>AC	c.(358-360)accfs	p.T120fs	KIAA0182_uc002fiw.3_Frame_Shift_Ins_p.T16fs|KIAA0182_uc002fiy.3_Frame_Shift_Ins_p.T47fs	NM_014615	NP_055430	Q14687	GSE1_HUMAN	Homo sapiens KIAA0182 (KIAA0182), transcript variant 1, mRNA.	120							protein binding	p.V123fs*2(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	35						CGTGCCCAGCACCCCCCCCGTG	0.688												
C17orf39	79018	broad.mit.edu	37	17	17957486	17957486	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:17957485_17957485CA>C	uc002gsg.1	+	2	711	c.543_543CA>C	c.(541-543)agcfs	p.S181fs		NM_024052	NP_076957	Q8IVV7	CQ039_HUMAN	Homo sapiens chromosome 17 open reading frame 39 (C17orf39), mRNA.	181										large_intestine(2)|lung(1)|ovary(2)|skin(1)	6	all_neural(463;0.228)					AAATAATCAGCAAAAAACACC	0.403												
NLK	51701	broad.mit.edu	37	17	26449740	26449740	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:26449739_26449739GT>G	uc010crj.3	+	1	781	c.569_569GT>G	c.(568-570)tgtfs	p.C190fs		NM_016231	NP_057315	Q9UBE8	NLK_HUMAN	Homo sapiens nemo-like kinase (NLK), mRNA.	190	Protein kinase.				Wnt receptor signaling pathway|intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	ATP binding|MAP kinase activity|SH2 domain binding|magnesium ion binding|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		AAGATGTTGTGTTTTTTTAAG	0.388												
CCT6B	10693	broad.mit.edu	37	17	33255998	33255998	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:33255997_33255997GT>G	uc002hig.3	-	12	1623	c.1507_1507AC>C	c.(1507-1509)caafs	p.Q503fs	CCT6B_uc010ctg.3_Frame_Shift_Del_p.Q466fs|CCT6B_uc010wcc.2_Frame_Shift_Del_p.Q458fs	NM_006584	NP_006575	Q92526	TCPW_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 6B (zeta 2) (CCT6B), transcript variant 1, mRNA.	503					chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				TGAAGAAGTTGTTTTTTTACA	0.294												
STAT5B	6777	broad.mit.edu	37	17	40370236	40370237	+	Frame_Shift_Ins	INS	-	-	G	rs144993426		TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:40370235_40370236T>TG	uc002hzh.3	-	8	1271_1272	c.1102_1103A>CA	c.(1102-1104)cagfs	p.Q368fs	STAT5B_uc002hzi.3_Frame_Shift_Ins_p.Q368fs	NM_012448	NP_036580	P51692	STA5B_HUMAN	Homo sapiens signal transducer and activator of transcription 5B (STAT5B), mRNA.	368					2-oxoglutarate metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	GGCCTTCACCTGGGGGGGGTTC	0.574												
ARHGAP27	201176	broad.mit.edu	37	17	43480123	43480124	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:43480122_43480123GGA>G	uc002iix.3	-	8	1126_1127	c.677_678TCC>C	c.(676-678)tccfs	p.S226fs	ARHGAP27_uc010dak.3_Frame_Shift_Del_p.S199fs|ARHGAP27_uc010wjl.1_Frame_Shift_Del_p.S345fs	NM_199282	NP_954976	Q6ZUM4	RHG27_HUMAN	Homo sapiens Rho GTPase activating protein 27 (ARHGAP27), transcript variant 1, mRNA.	567					positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding	p.S226fs*9(2)		endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					TGGGGGCCCAGGAGAGAGTGGC	0.599												
C17orf57	124989	broad.mit.edu	37	17	45473297	45473297	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:45473296_45473296TA>T	uc002iln.3	+	16	2329	c.1898_1898TA>T	c.(1897-1899)ttafs	p.L633fs	C17orf57_uc002ilm.3_Frame_Shift_Del_p.L537fs	NM_152347	NP_689560	Q8IY85	CQ057_HUMAN	Homo sapiens chromosome 17 open reading frame 57 (C17orf57), transcript variant A, mRNA.	633	EF-hand 3.						calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(11)|pancreas(1)|skin(5)|stomach(3)	36						AATAGTAATTTAAAAAAGGAT	0.338												
ANKFN1	162282	broad.mit.edu	37	17	54543825	54543825	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:54543824_54543824AT>A	uc002iun.1	+	13	1709	c.1674_1674AT>A	c.(1672-1674)tcafs	p.S558fs		NM_153228	NP_694960	Q8N957	ANKF1_HUMAN	Homo sapiens ankyrin-repeat and fibronectin type III domain containing 1 (ANKFN1), mRNA.	558										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						TGCTTTATTCATTTTTTAATG	0.413												
RNF43	54894	broad.mit.edu	37	17	56435094	56435094	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:56435093_56435093GA>G	uc002iwf.3	-	7	4000	c.2044_2044TC>C	c.(2044-2046)cccfs	p.P682fs	RNF43_uc010wnv.2_Frame_Shift_Del_p.P641fs|RNF43_uc002iwh.4_Frame_Shift_Del_p.P682fs|RNF43_uc002iwg.4_Frame_Shift_Del_p.P682fs|RNF43_uc010dcw.3_Frame_Shift_Del_p.P555fs	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	682	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GTGTAATGGGGAAAAATCTGG	0.627												
RNF43	54894	broad.mit.edu	37	17	56435161	56435161	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:56435160_56435160AC>A	uc002iwf.3	-	7	3933	c.1977_1977GT>T	c.(1975-1977)ggtfs	p.G659fs	RNF43_uc010wnv.2_Frame_Shift_Del_p.G618fs|RNF43_uc002iwh.4_Frame_Shift_Del_p.G659fs|RNF43_uc002iwg.4_Frame_Shift_Del_p.G659fs|RNF43_uc010dcw.3_Frame_Shift_Del_p.G532fs	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	659	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	p.G659fs*41(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCTCGGAGGGACCCCCCCGCC	0.597												
TBX4	9496	broad.mit.edu	37	17	59556066	59556066	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:59556065_59556065CA>C	uc010ddo.3	+	5	790	c.627_627CA>C	c.(625-627)tccfs	p.S209fs	TBX4_uc002izi.3_Frame_Shift_Del_p.S209fs|TBX4_uc010woy.2_Frame_Shift_Del_p.S209fs	NM_018488	NP_060958	P57082	TBX4_HUMAN	Homo sapiens T-box 4 (TBX4), mRNA.	209					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CTTTCGGCTCCAAAAACACTG	0.527												
ABCA10	10349	broad.mit.edu	37	17	67210910	67210910	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr17:67210909_67210909GA>G	uc010dfa.1	-	9	1821	c.942_942TC>C	c.(940-942)ttcfs	p.F314fs	ABCA10_uc010wqt.1_Non-coding_Transcript|ABCA10_uc010dfb.1_5'UTR|ABCA10_uc010dfc.1_Frame_Shift_Del_p.F206fs	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 10 (ABCA10), mRNA.	314					transport	integral to membrane	ATP binding|ATPase activity	p.I315fs*5(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					ATGCCAAAATGAAAAAAGTGG	0.303												
MUC16	94025	broad.mit.edu	37	19	9049103	9049103	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:9049102_9049102GA>G	uc002mkp.3	-	4	32733	c.32529_32529TC>C	c.(32527-32529)ttcfs	p.F10843fs		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10845	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						ATTTACTATGGAAAAAAATGG	0.488												
MUC16	94025	broad.mit.edu	37	19	9065788	9065788	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:9065787_9065787TC>T	uc002mkp.3	-	2	21863	c.21659_21659GA>A	c.(21658-21660)gatfs	p.D7220fs		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7222	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						AACAGTTGTATCCTCCTGGGT	0.483												
ZNF878	729747	broad.mit.edu	37	19	12155504	12155504	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:12155503_12155503GA>G	uc021upl.1	-	3	879	c.713_713TC>C	c.(712-714)tctfs	p.S238fs	ZNF878_uc002mta.1_Frame_Shift_Del_p.S285fs	NM_001080404	NP_001073873	C9JN71	ZN878_HUMAN	Homo sapiens zinc finger protein 878 (ZNF878), mRNA.	238					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						CGAACTGGGAGAAAAAAAGGC	0.393												
ZNF493	284443	broad.mit.edu	37	19	21607422	21607422	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:21607421_21607421CA>C	uc002npw.3	+	3	2079	c.1960_1960CA>C	c.(1960-1962)caafs	p.Q654fs	ZNF493_uc002npx.3_Frame_Shift_Del_p.Q526fs|ZNF493_uc002npy.3_Frame_Shift_Del_p.Q526fs|ZNF493_uc021urq.1_Frame_Shift_Del_p.Q526fs	NM_001076678	NP_787106	Q6ZR52	ZN493_HUMAN	Homo sapiens zinc finger protein 493 (ZNF493), transcript variant 3, mRNA.	526					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						TCATAGTGTACAAAAACCCTA	0.378												
ZNF429	353088	broad.mit.edu	37	19	21720353	21720353	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:21720352_21720352TA>T	uc002nqd.1	+	3	1634	c.1497_1497TA>T	c.(1495-1497)catfs	p.H499fs	ZNF429_uc010ecu.2_Intron	NM_001001415	NP_001001415	Q86V71	ZN429_HUMAN	Homo sapiens zinc finger protein 429 (ZNF429), mRNA.	499					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I502fs*3(1)		endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						TTAACAGTCATAAAAAAATTC	0.378												
ZNF675	171392	broad.mit.edu	37	19	23836656	23836656	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:23836655_23836655GT>G	uc002nri.3	-	3	1262	c.1080_1080AC>C	c.(1078-1080)aacfs	p.N360fs		NM_138330	NP_612203	Q8TD23	ZN675_HUMAN	Homo sapiens zinc finger protein 675 (ZNF675), mRNA.	360					I-kappaB kinase/NF-kappaB cascade|bone resorption|cytokine-mediated signaling pathway|hemopoiesis|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				CAGTATGAATGTTTTTATGTT	0.368												
TSHZ3	57616	broad.mit.edu	37	19	31769235	31769235	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:31769234_31769234CT>C	uc002nsy.4	-	1	1530	c.1465_1465AG>G	c.(1465-1467)gacfs	p.D489fs		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	Homo sapiens teashirt zinc finger homeobox 3 (TSHZ3), mRNA.	489					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CCAGGCTTGTCTTTTTGCTTA	0.468												
C19orf40	91442	broad.mit.edu	37	19	33464997	33464997	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:33464996_33464996GA>G	uc002nud.4	+	3	392	c.274_274GA>G	c.(274-276)gaafs	p.E92fs	CEP89_uc002nty.3_5'Flank|CEP89_uc010edg.3_5'Flank|CEP89_uc002nua.3_5'Flank|CEP89_uc002nuc.1_5'Flank	NM_152266	NP_689479	Q9BTP7	FAP24_HUMAN	Homo sapiens chromosome 19 open reading frame 40 (C19orf40), mRNA.	92					DNA repair	Fanconi anaemia nuclear complex	DNA binding|chromatin binding|protein binding	p.E92Q(4)		endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Esophageal squamous(110;0.137)					TGTAGTCGTTGAAAAAACCCG	0.418								Direct reversal of damage				
APLP1	333	broad.mit.edu	37	19	36362782	36362782	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:36362781_36362781GC>G	uc002oce.3	+	5	831	c.693_693GC>G	c.(691-693)tggfs	p.W231fs	APLP1_uc010xsz.2_Frame_Shift_Del_p.W192fs|APLP1_uc002ocf.3_Frame_Shift_Del_p.W231fs|APLP1_uc002ocg.3_Frame_Shift_Del_p.W134fs|APLP1_uc010xta.2_Frame_Shift_Del_p.W225fs	NM_005166	NP_005157	P51693	APLP1_HUMAN	Homo sapiens amyloid beta (A4) precursor-like protein 1 (APLP1), transcript variant 2, mRNA.	231					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCCGGTCCTGGCCCCCGGGGA	0.637												
CEACAM6	4680	broad.mit.edu	37	19	42259553	42259553	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:42259552_42259552AC>A	uc002orm.2	+	0	155	c.6_6AC>A	c.(4-6)ggafs	p.G2fs		NM_002483	NP_002474	P40199	CEAM6_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen) (CEACAM6), mRNA.	2					cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane		p.M1I(1)		breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		AGACCATGGGACCCCCCTCAG	0.612												
CEACAM3	1084	broad.mit.edu	37	19	42314895	42314895	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:42314894_42314894GC>G	uc002orn.1	+	5	728	c.652_652GC>G	c.(652-654)gccfs	p.A218fs	CEACAM3_uc010eia.1_Frame_Shift_Del_p.G200fs|CEACAM3_uc002oro.1_Non-coding_Transcript	NM_001815	NP_001806	P40198	CEAM3_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 3 (CEACAM3), mRNA.	218						integral to membrane				endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						CACTGCCCAGGCCCCCCTACC	0.612												
ZNF180	7733	broad.mit.edu	37	19	44981225	44981225	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:44981224_44981224GT>G	uc002ozf.4	-	4	1756	c.1474_1474AC>C	c.(1474-1476)cccfs	p.P492fs	ZNF180_uc002ozh.4_Frame_Shift_Del_p.P149fs|ZNF180_uc002ozi.4_Frame_Shift_Del_p.P465fs|ZNF180_uc002ozg.4_Frame_Shift_Del_p.P491fs|ZNF180_uc010ejm.3_Frame_Shift_Del_p.P467fs	NM_013256	NP_037388	Q9UJW8	ZN180_HUMAN	Homo sapiens zinc finger protein 180 (ZNF180), mRNA.	492					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				CATTCATAGGGTTTTTCCCCA	0.368												
CD3EAP	10849	broad.mit.edu	37	19	45911872	45911872	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:45911871_45911871GA>G	uc002pbr.1	+	2	657	c.651_651GA>G	c.(649-651)aagfs	p.K217fs	PPP1R13L_uc002pbo.3_5'Flank|PPP1R13L_uc002pbp.2_5'Flank|CD3EAP_uc002pbq.1_Frame_Shift_Del_p.K215fs|ERCC1_uc002pbt.2_3'UTR|ERCC1_uc002pbs.2_3'UTR|ERCC1_uc002pbu.2_3'UTR	NM_012099	NP_036231	O15446	RPA34_HUMAN	Homo sapiens CD3e molecule, epsilon associated protein (CD3EAP), mRNA.	215	Poly-Lys.				rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	RNA polymerase I transcription factor complex|chromosome	DNA-directed RNA polymerase activity	p.K215N(1)		breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		AGAAGAAGAAGAAAAAAAATC	0.587												
ZNF701	55762	broad.mit.edu	37	19	53086002	53086002	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:53086001_53086001TA>T	uc010ydn.2	+	4	950	c.887_887TA>T	c.(886-888)ttafs	p.L296fs	ZNF701_uc002pzs.2_Frame_Shift_Del_p.L230fs|ZNF701_uc021uyw.1_Frame_Shift_Del_p.L296fs	NM_018260	NP_060730	Q9NV72	ZN701_HUMAN	Homo sapiens zinc finger protein 701 (ZNF701), transcript variant 2, mRNA.	230					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		AGCTCACTCTTAAAAAAACAT	0.388												
ZIM3	114026	broad.mit.edu	37	19	57646555	57646555	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr19:57646554_57646554AT>A	uc002qnz.1	-	4	1537	c.1151_1151AT>T	c.(1150-1152)atcfs	p.I384fs		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA.	384					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K383Q(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCCAGTATGGATTTTTTTATG	0.388												
C20orf132	140699	broad.mit.edu	37	20	35748936	35748937	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:35748935_35748936TTA>T	uc010zvu.2	-	17	2291_2292	c.2200_2201TAA>A	c.(2200-2202)aaafs	p.K734fs	C20orf132_uc002xgk.3_Frame_Shift_Del_p.K366fs	NM_152503	NP_689716	Q9H579	CT132_HUMAN	Homo sapiens chromosome 20 open reading frame 132 (C20orf132), transcript variant 1, mRNA.	303										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(115;0.00878)				AGATGTGAGTTTATGTTTATCA	0.436												
RALGAPB	57148	broad.mit.edu	37	20	37146233	37146233	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:37146232_37146232AC>A	uc002xiw.3	+	7	1392	c.1135_1135AC>A	c.(1135-1137)accfs	p.T379fs	RALGAPB_uc010zvz.1_Frame_Shift_Del_p.T379fs|RALGAPB_uc002xix.3_Frame_Shift_Del_p.T379fs|RALGAPB_uc002xiy.1_Frame_Shift_Del_p.T379fs|RALGAPB_uc002xiz.3_Frame_Shift_Del_p.T157fs|RALGAPB_uc002xja.1_Frame_Shift_Del_p.T106fs	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN	Homo sapiens Ral GTPase activating protein, beta subunit (non-catalytic) (RALGAPB), mRNA.	379					activation of Ral GTPase activity	intracellular	Ral GTPase activator activity|protein heterodimerization activity	p.H382fs*2(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TGTCAGTACCACCCCCCCACA	0.443												
ZNF334	55713	broad.mit.edu	37	20	45130769	45130769	+	Frame_Shift_Del	DEL	T	T	-	rs141823361	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:45130768_45130768GT>G	uc002xsa.3	-	3	1741	c.1279_1279AC>C	c.(1279-1281)cccfs	p.P427fs	ZNF334_uc002xsb.3_Frame_Shift_Del_p.P366fs|ZNF334_uc002xsd.3_Frame_Shift_Del_p.P366fs|ZNF334_uc002xsc.3_Frame_Shift_Del_p.P404fs|ZNF334_uc010ghl.3_Frame_Shift_Del_p.P403fs			Q9HCZ1	ZN334_HUMAN	Homo sapiens zinc finger protein 334 (ZNF334), transcript variant 2, mRNA.	404					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CATTCATAGGGTTTTTCCCCT	0.438												
OSBPL2	9885	broad.mit.edu	37	20	60854258	60854258	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr20:60854257_60854257AC>A	uc002yck.1	+	6	738	c.536_536AC>A	c.(535-537)cacfs	p.H179fs	OSBPL2_uc002ycl.1_Frame_Shift_Del_p.H167fs|OSBPL2_uc011aah.1_Frame_Shift_Del_p.H87fs|OSBPL2_uc002ycm.1_5'UTR	NM_144498	NP_653081	Q9H1P3	OSBL2_HUMAN	Homo sapiens oxysterol binding protein-like 2 (OSBPL2), transcript variant 2, mRNA.	179					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			GTCAGTCACCACCCCCCCATC	0.463												
TTC3	7267	broad.mit.edu	37	21	38572580	38572580	+	Frame_Shift_Del	DEL	A	A	-	rs58274795	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr21:38572579_38572579CA>C	uc002yvz.3	+	44	6002	c.5897_5897CA>C	c.(5896-5898)tcafs	p.S1966fs	TTC3_uc002ywa.3_Frame_Shift_Del_p.S1966fs|TTC3_uc002ywb.3_Frame_Shift_Del_p.S1966fs|TTC3_uc010gnf.3_Frame_Shift_Del_p.S1731fs|TTC3_uc002ywc.3_Frame_Shift_Del_p.S1656fs	NM_001001894	NP_003307	P53804	TTC3_HUMAN	Homo sapiens tetratricopeptide repeat domain 3 (TTC3), transcript variant 2, mRNA.	1966					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				GTGTTCAAATCAAAAAACGTG	0.413												
SMARCB1	6598	broad.mit.edu	37	22	24175857	24175859	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:24175856_24175858GAGA>G	uc002zyd.3	+	7	1318_1320	c.1111_1113GAGA>G	c.(1111-1113)gag>G	p.E371del	SMARCB1_uc002zya.3_Intron|SMARCB1_uc002zyb.3_In_Frame_Del_p.E362del|SMARCB1_uc002zyc.3_In_Frame_Del_p.E353del	NM_001007468	NP_001007469	Q12824	SNF5_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 (SMARCB1), transcript variant 2, mRNA.	362					DNA integration|cell cycle|chromatin remodeling|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex|nucleolus|nucleoplasm	p53 binding	p.?(2)|p.N371S(1)|p.L266_*386del(1)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				CGCTGAGATGGAGAAGAAGATCC	0.631			"""D, N, F, S"""		malignant rhabdoid	malignant rhabdoid						
DDX17	10521	broad.mit.edu	37	22	38895455	38895456	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:38895454_38895455T>TC	uc003avy.4	-	2	591_592	c.488_489A>GA	c.(487-489)ggafs	p.G163fs	DDX17_uc003avx.4_Frame_Shift_Ins_p.G163fs|DDX17_uc011anu.2_Frame_Shift_Ins_p.G76fs	NM_001098504	NP_001091974	Q92841	DDX17_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 17 (DDX17), transcript variant 3, mRNA.	84	Helicase ATP-binding.				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity	p.G163fs*20(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					GACAAACATCTCCCCCCCTCAC	0.381												
NAGA	4668	broad.mit.edu	37	22	42458950	42458950	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:42458949_42458949AG>A	uc003bbw.4	-	6	1384	c.839_839CT>T	c.(838-840)ctcfs	p.L280fs		NM_000262	NP_000253	P17050	NAGAB_HUMAN	Homo sapiens N-acetylgalactosaminidase, alpha- (NAGA), mRNA.	280					glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-N-acetylgalactosaminidase activity|alpha-galactosidase activity|cation binding|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						GGACATCAAGAGGGGGGCTGC	0.562												
ALG12	79087	broad.mit.edu	37	22	50303555	50303555	+	Frame_Shift_Del	DEL	C	C	-	rs146322225	byFrequency	TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chr22:50303554_50303554TC>T	uc003biy.3	-	4	926	c.652_652GA>A	c.(652-654)atcfs	p.I218fs		NM_024105	NP_077010	Q9BV10	ALG12_HUMAN	Homo sapiens asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae) (ALG12), mRNA.	218					GPI anchor biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	integral to membrane|intrinsic to endoplasmic reticulum membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		AAACAGAGGATCCCTGCCGGG	0.527												
BCOR	54880	broad.mit.edu	37	X	39934127	39934127	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:39934126_39934126CT>C	uc004den.4	-	3	765	c.473_473AG>G	c.(472-474)agtfs	p.S158fs	BCOR_uc004dep.4_Frame_Shift_Del_p.S158fs|BCOR_uc004deo.4_Frame_Shift_Del_p.S158fs|BCOR_uc004dem.4_Frame_Shift_Del_p.S158fs|BCOR_uc004deq.4_Frame_Shift_Del_p.S158fs	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	158					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GGCTACAGCACTTTTTTGTAT	0.532			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic					
MCF2	4168	broad.mit.edu	37	X	138701773	138701774	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4184-01A-01D-1126-08	TCGA-BR-4184-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d19854c-b88b-42a6-aac4-4daed4ed5b7e	6be02310-66c9-482c-8a7d-a281d25f5102	g.chrX:138701772_138701773A>AT	uc011mwn.1	-	9	1221_1222	c.1215_1216T>AT	c.(1213-1218)aaattgfs	p.K405fs	MCF2_uc004fav.3_Frame_Shift_Ins_p.K260fs|MCF2_uc004fau.3_Frame_Shift_Ins_p.K260fs|MCF2_uc010nsh.2_Frame_Shift_Ins_p.K260fs|MCF2_uc011mwm.2_Frame_Shift_Ins_p.K221fs|MCF2_uc011mwl.2_Frame_Shift_Ins_p.K221fs|MCF2_uc011mwo.1_Frame_Shift_Ins_p.K320fs|MCF2_uc004faw.2_Frame_Shift_Ins_p.K320fs	NM_001171878	NP_001165349	P10911	MCF2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence (MCF2), transcript variant 5, mRNA.	260					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	Rho guanyl-nucleotide exchange factor activity|protein binding	p.L405H(1)		NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					AAGTTTTCCAATTTTTTTATTT	0.307												
