Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
BTRC	8945	broad.mit.edu	37	10	103310561	103310561	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr10:103310561G>T	ENST00000370187.3	+	14	1880	c.1762G>T	c.(1762-1764)Gcc>Tcc	p.A588S	BTRC_ENST00000408038.2_Missense_Mutation_p.A552S|BTRC_ENST00000393441.4_Missense_Mutation_p.A547S|BTRC_ENST00000493877.1_3'UTR	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	588					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		TGATCCAGCTGCCCAAGCTGA	0.453000													61	75					7.41606e-26	9.81316e-26	0.870114	1	0
USH1C	10083	broad.mit.edu	37	11	17538963	17538963	+	Silent	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr11:17538963C>T	ENST00000527720.1	-	14	1420	c.1176G>A	c.(1174-1176)gaG>gaA	p.E392E	USH1C_ENST00000318024.4_Silent_p.E423E|USH1C_ENST00000005226.7_Intron|USH1C_ENST00000527020.1_Silent_p.E404E			Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	423					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						CTCCCTGCTCCTCCGTGCCTC	0.622000													6	13					0	0	0.248553	0	0
ZNF726	730087	broad.mit.edu	37	19	24102822	24102822	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr19:24102822G>T	ENST00000594466.1	+	3	269	c.164G>T	c.(163-165)tGt>tTt	p.C55F	ZNF726_ENST00000531821.2_Missense_Mutation_p.C55F|ZNF726_ENST00000334589.5_Missense_Mutation_p.C55F|ZNF726_ENST00000525354.2_Missense_Mutation_p.C55F|ZNF726_ENST00000322487.7_Missense_Mutation_p.C55F|CTB-92J24.3_ENST00000596326.1_RNA|ZNF726_ENST00000575986.1_Missense_Mutation_p.C55F	NM_001244038.1	NP_001230967.1	E9PLI7	E9PLI7_HUMAN	zinc finger protein 726	55					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding										CTCATCATCTGTCTGGAGAAA	0.403000													24	65					1.10923e-09	1.25918e-09	0.639603	1	0
HIPK2	28996	broad.mit.edu	37	7	139297963	139297963	+	Silent	SNP	T	T	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr7:139297963T>A	ENST00000406875.3	-	9	2191	c.2097A>T	c.(2095-2097)ccA>ccT	p.P699P	HIPK2_ENST00000428878.2_Silent_p.P672P|HIPK2_ENST00000342645.6_Silent_p.P699P	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	699	Interaction with SKI and SMAD1.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					CAAGCAGACCTGGTTGGATCT	0.468000													9	58					0	0	0.361761	0	0
SRP54	6729	broad.mit.edu	37	14	35484003	35484003	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr14:35484003G>A	ENST00000556994.1	+	12	1337	c.940G>A	c.(940-942)Gac>Aac	p.D314N	SRP54_ENST00000555557.1_Missense_Mutation_p.D250N|SRP54_ENST00000546080.1_Missense_Mutation_p.D265N|SRP54_ENST00000216774.6_Missense_Mutation_p.D314N			P61011	SRP54_HUMAN	signal recognition particle 54kDa	314	M-domain.				GTP catabolic process|response to drug|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition|SRP-dependent cotranslational protein targeting to membrane, translocation	cytosol|nuclear speck|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|drug binding|endoplasmic reticulum signal peptide binding|GDP binding|GTP binding|nucleoside-triphosphatase activity|ribonucleoprotein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)		GAAGTTGGATGACAATGAAGC	0.318000													43	87					0	0	0.870114	0	0
C20orf201	198437	broad.mit.edu	37	20	62714779	62714779	+	Missense_Mutation	SNP	C	C	G			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr20:62714779C>G	ENST00000308906.2	-	2	821	c.682G>C	c.(682-684)Gag>Cag	p.E228Q	OPRL1_ENST00000355631.4_Intron|OPRL1_ENST00000336866.2_Intron|C20orf201_ENST00000302096.4_3'UTR	NM_001007125.1	NP_001007126.1	Q8TD35	CT201_HUMAN	chromosome 20 open reading frame 201	38																	CGCACACTCTCAGTCGCCGTC	0.647000													12	52					0	0	0.479597	0	0
CHD5	26038	broad.mit.edu	37	1	6196583	6196583	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr1:6196583C>A	ENST00000262450.3	-	17	2789	c.2690G>T	c.(2689-2691)aGg>aTg	p.R897M	CHD5_ENST00000378021.1_De_novo_Start_InFrame	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	897					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TCACTTGAACCTCTCTGGAGT	0.557000													45	173					2.43139e-17	3.05674e-17	0.870114	1	0
ASIC2	40	broad.mit.edu	37	17	31343042	31343042	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr17:31343042G>T	ENST00000225823.2	-	9	2409	c.1537C>A	c.(1537-1539)Cta>Ata	p.L513I	ASIC2_ENST00000359872.6_Missense_Mutation_p.L462I	NM_183377.1	NP_899233.1	Q16515	ACCN1_HUMAN	acid-sensing (proton-gated) ion channel 2	462					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	AGGTCTAATAGCTTCTCTTTG	0.552000													22	80					9.86323e-18	1.24239e-17	0.667858	1	0
CHD7	55636	broad.mit.edu	37	8	61735190	61735190	+	Missense_Mutation	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr8:61735190C>T	ENST00000423902.2	+	12	3565	c.3086C>T	c.(3085-3087)cCc>cTc	p.P1029L	CHD7_ENST00000525508.1_Missense_Mutation_p.P1029L|CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1029	Helicase ATP-binding.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TCCACAATCCCCAACTGGGAA	0.428000													102	246					0	0	0.870114	0	0
CNTN5	53942	broad.mit.edu	37	11	100141900	100141900	+	Silent	SNP	A	A	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr11:100141900A>T	ENST00000524871.1	+	18	2531	c.2241A>T	c.(2239-2241)cgA>cgT	p.R747R	CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000528682.1_Silent_p.R747R|CNTN5_ENST00000418526.2_Silent_p.R673R|CNTN5_ENST00000527185.1_Silent_p.R747R|CNTN5_ENST00000279463.3_Silent_p.R747R	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	747	Fibronectin type-III 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		ATGAATTTCGAGTGGTAGCCA	0.458000													21	48					0	0	0.624587	0	0
CR1	1378	broad.mit.edu	37	1	207790112	207790112	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr1:207790112G>T	ENST00000367049.4	+	41	6854	c.6854G>T	c.(6853-6855)aGc>aTc	p.S2285I	CR1_ENST00000367051.1_Missense_Mutation_p.S1835I|CR1_ENST00000400960.2_Missense_Mutation_p.S1835I|CR1_ENST00000367052.1_Missense_Mutation_p.S1835I|CR1_ENST00000367053.1_Missense_Mutation_p.S1835I	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1835					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GTTTGGAGCAGCCCTGCCCCT	0.522000													126	123					1.86983e-63	2.69766e-63	0.870114	1	0
SSPO	23145	broad.mit.edu	37	7	149530961	149530961	+	RNA	SNP	A	A	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr7:149530961A>T	ENST00000378016.2	+	0	15490							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TCTTGTGATCATGGGACTCAG	0.557000													6	35					0	0	0.217242	0	0
LPCAT3	10162	broad.mit.edu	37	12	7092663	7092663	+	Missense_Mutation	SNP	G	G	C			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr12:7092663G>C	ENST00000261407.4	-	2	274	c.189C>G	c.(187-189)ttC>ttG	p.F63L	U47924.19_ENST00000564245.1_RNA	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3	63			F -> L (in dbSNP:rs34196984).		phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						TCTCCTTGTAGAAAAGGTAAT	0.428000													5	180					0	0	0.248553	0	0
MYO15A	51168	broad.mit.edu	37	17	18054712	18054712	+	Missense_Mutation	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr17:18054712C>T	ENST00000205890.5	+	40	7996	c.7658C>T	c.(7657-7659)tCa>tTa	p.S2553L		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2553	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CCCACAGCTTCACCCTCCCCA	0.622000													3	58					0	0	0.150653	0	0
DOCK3	1795	broad.mit.edu	37	3	51101982	51101982	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr3:51101982G>A	ENST00000266037.9	+	6	442	c.419G>A	c.(418-420)cGg>cAg	p.R140Q		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	140						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GATCAGGTGCGGGAGGTTAAG	0.453000													33	70					0	0	0.804634	0	0
OR1J4	26219	broad.mit.edu	37	9	125282078	125282078	+	Missense_Mutation	SNP	A	A	C			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr9:125282078A>C	ENST00000340750.1	+	1	659	c.659A>C	c.(658-660)cAc>cCc	p.H220P		NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J, member 4	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						TCTTATGGCCACATTGGGGTC	0.483000													42	44					0	0	0.870114	0	0
ITGA4	3676	broad.mit.edu	37	2	182386949	182386949	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr2:182386949G>T	ENST00000397033.2	+	18	2384	c.1954G>T	c.(1954-1956)Ggg>Tgg	p.G652W		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	652					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TCTTGCTGTTGGGAGTATGAA	0.333000													39	79					9.85913e-13	1.16988e-12	0.847076	1	0
FHL5	9457	broad.mit.edu	37	6	97052726	97052726	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr6:97052726G>T	ENST00000326771.2	+	4	640	c.260G>T	c.(259-261)cGc>cTc	p.R87L	FHL5_ENST00000541107.1_Missense_Mutation_p.R87L	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	87	LIM zinc-binding 1.					nucleus	zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		AAGGATGAGCGCCTGCTGTGC	0.522000													42	58					1.06522e-23	1.39265e-23	0.864702	1	0
ZNF536	9745	broad.mit.edu	37	19	31040235	31040235	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr19:31040235G>T	ENST00000355537.3	+	4	3856	c.3709G>T	c.(3709-3711)Ggt>Tgt	p.G1237C		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1237					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)					GCACAGCCAGGGTCTTCTCCA	0.672000													20	32					1.28384e-07	1.4133e-07	0.608945	1	0
GAD2	2572	broad.mit.edu	37	10	26508002	26508002	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr10:26508002C>A	ENST00000376261.3	+	4	820	c.317C>A	c.(316-318)cCc>cAc	p.P106H	GAD2_ENST00000259271.3_Missense_Mutation_p.P106H|GAD2_ENST00000376248.1_5'UTR	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	106					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	GGAGAAAGGCCCACTTTGGCG	0.358000													31	76					4.34311e-12	5.0618e-12	0.779181	1	0
DUSP10	11221	broad.mit.edu	37	1	221879729	221879729	+	Silent	SNP	C	C	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr1:221879729C>A	ENST00000366899.3	-	3	1129	c.891G>T	c.(889-891)ggG>ggT	p.G297G	DUSP10_ENST00000323825.3_5'UTR|DUSP10_ENST00000468085.1_5'UTR|DUSP10_ENST00000544095.1_5'UTR	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	297					inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		ATGCGCCGCCCCCCACCTCCC	0.582000													76	61					4.75426e-39	6.66818e-39	0.870114	1	0
NCOA6	23054	broad.mit.edu	37	20	33337969	33337969	+	Missense_Mutation	SNP	T	T	G			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr20:33337969T>G	ENST00000374796.2	-	10	4599	c.2029A>C	c.(2029-2031)Atg>Ctg	p.M677L	NCOA6_ENST00000359003.2_Missense_Mutation_p.M677L			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	677	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						GGTGGGGTCATCCTTTGGGGC	0.577000													7	61					0	0	0.278610	0	0
RAG1	5896	broad.mit.edu	37	11	36594979	36594979	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr11:36594979C>A	ENST00000299440.5	+	2	237	c.125C>A	c.(124-126)cCt>cAt	p.P42H		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	42	Interaction with importin alpha-1.				histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	p.P42H(1)		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)				GAAAAGACACCTGAAGAAGCT	0.458000									Familial Hemophagocytic Lymphohistiocytosis				20	56					8.00594e-06	8.58247e-06	0.557998	1	0
ZNF730	100129543	broad.mit.edu	37	19	23328682	23328682	+	Missense_Mutation	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr19:23328682C>T	ENST00000597761.2	+	4	1035	c.836C>T	c.(835-837)aCt>aTt	p.T279I		NM_001277403.1	NP_001264332.1			zinc finger protein 730											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						AGAATTCATACTGGAGAGAAA	0.348000													10	43					0	0	0.387290	0	0
NALCN	259232	broad.mit.edu	37	13	101714331	101714331	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr13:101714331G>T	ENST00000251127.6	-	41	4825	c.4744C>A	c.(4744-4746)Cgc>Agc	p.R1582S		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1582						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)					GCTCTGATGCGCTTCAGGCAC	0.607000													47	37					9.59835e-30	1.30434e-29	0.870114	1	0
KATNA1	11104	broad.mit.edu	37	6	149916233	149916233	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr6:149916233G>A	ENST00000367411.2	-	11	1673	c.1415C>T	c.(1414-1416)tCa>tTa	p.S472L	KATNA1_ENST00000335643.8_3'UTR|KATNA1_ENST00000335647.5_Missense_Mutation_p.S472L	NM_007044.3	NP_008975.1	O75449	KTNA1_HUMAN	katanin p60 (ATPase containing) subunit A 1	472					cell division|interphase of mitotic cell cycle|mitosis	microtubule|microtubule organizing center|spindle pole	ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	12		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)		AGCAGACACTGACTTAGAAAC	0.383000													15	83					0	0	0.557998	0	0
DLGAP1	9229	broad.mit.edu	37	18	3567517	3567517	+	Silent	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr18:3567517G>A	ENST00000315677.3	-	9	2623	c.2028C>T	c.(2026-2028)tcC>tcT	p.S676S	DLGAP1_ENST00000400155.1_Silent_p.S382S|DLGAP1_ENST00000581527.1_Silent_p.S676S|DLGAP1_ENST00000400147.2_Silent_p.S374S|DLGAP1_ENST00000400149.3_Silent_p.S366S|DLGAP1_ENST00000534970.1_Silent_p.S360S|DLGAP1_ENST00000400150.3_Silent_p.S392S|DLGAP1_ENST00000515196.2_Silent_p.S676S|DLGAP1_ENST00000539435.1_Silent_p.S384S|DLGAP1_ENST00000584874.1_Silent_p.S676S|DLGAP1_ENST00000400145.2_Silent_p.S374S|DLGAP1_ENST00000581699.1_Silent_p.S382S	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	676	Interaction with DYL2 (By similarity).				synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GCACTCCCACGGACTGGAACT	0.423000													4	158					0	0	0.217242	0	0
PABPC5	140886	broad.mit.edu	37	X	90691684	90691684	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chrX:90691684C>A	ENST00000312600.3	+	2	1322	c.1108C>A	c.(1108-1110)Ccc>Acc	p.P370T	PABPC5_ENST00000373105.1_Missense_Mutation_p.P206T	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	370	RRM 4.					cytoplasm	nucleotide binding|RNA binding			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						GGGCTCCAAGCCCCTGCATGT	0.532000													15	10					6.72482e-11	7.76854e-11	0.479597	1	0
CEL	1056	broad.mit.edu	37	9	135942481	135942481	+	Missense_Mutation	SNP	G	G	C			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr9:135942481G>C	ENST00000372080.4	+	7	809	c.793G>C	c.(793-795)Gag>Cag	p.E265Q	CEL_ENST00000351304.7_Missense_Mutation_p.E262Q	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	262					cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		CCAGGTGGCTGAGAAGGTGGG	0.617000													14	63					0	0	0.500413	0	0
ATAD2	29028	broad.mit.edu	37	8	124358447	124358447	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr8:124358447C>A	ENST00000287394.5	-	18	2518	c.2411G>T	c.(2410-2412)gGg>gTg	p.G804V	ATAD2_ENST00000521903.1_Missense_Mutation_p.G122V	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	804					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			AGAACCTTGCCCAAATCCTGG	0.363000													60	116					1.74474e-33	2.40591e-33	0.870114	1	0
ZNF679	168417	broad.mit.edu	37	7	63721279	63721279	+	Missense_Mutation	SNP	G	G	C			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr7:63721279G>C	ENST00000421025.1	+	4	503	c.234G>C	c.(232-234)aaG>aaC	p.K78N	ZNF679_ENST00000255746.4_Missense_Mutation_p.K78N	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	78	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						GGAATATAAAGAGAAATGAGA	0.398000													15	56					0	0	0.479597	0	0
IGF2R	3482	broad.mit.edu	37	6	160494963	160494963	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr6:160494963G>T	ENST00000356956.1	+	35	5270	c.5122G>T	c.(5122-5124)Gcc>Tcc	p.A1708S		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1708					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)		GCCCTGTCCTGCCGGAGCCGC	0.463000													3	18					0.115264	0.11633	0.115264	1	0
ETV2	2116	broad.mit.edu	37	19	36133536	36133536	+	Silent	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr19:36133536C>T	ENST00000379026.2	+	2	613	c.174C>T	c.(172-174)ttC>ttT	p.F58F	ETV2_ENST00000403402.1_Silent_p.F30F|ETV2_ENST00000379023.4_Silent_p.F30F|ETV2_ENST00000402764.2_Silent_p.F30F|ETV2_ENST00000479824.1_5'UTR			B9EIN1	B9EIN1_HUMAN	ets variant 2	30							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(2)	2	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AATTAGGCTTCTGTTTCCCTG	0.617000													3	15					0	0	0.115264	0	0
ATHL1	80162	broad.mit.edu	37	11	294191	294191	+	Silent	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr11:294191G>T	ENST00000409548.2	+	12	1918	c.1803G>T	c.(1801-1803)ggG>ggT	p.G601G	ATHL1_ENST00000409655.1_Silent_p.G353G|ATHL1_ENST00000409479.1_Silent_p.G628G	NM_025092.4	NP_079368.3	Q32M88	ATHL1_HUMAN	ATH1, acid trehalase-like 1 (yeast)	601					carbohydrate metabolic process		hydrolase activity, acting on glycosyl bonds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3)	17		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		GGTGCACGGGGTTCAGGTAAG	0.652000													15	52					4.14922e-12	4.86178e-12	0.500413	1	0
MEIS1	4211	broad.mit.edu	37	2	66667693	66667693	+	Splice_Site	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr2:66667693G>T	ENST00000488550.1	+	4	680		c.e4-1		MEIS1_ENST00000407092.2_Splice_Site|MEIS1_ENST00000398506.2_Splice_Site|MEIS1_ENST00000495021.2_Splice_Site|MEIS1_ENST00000272369.9_Splice_Site|MEIS1_ENST00000560281.2_Splice_Site|MEIS1-AS1_ENST00000454595.1_RNA|MEIS1_ENST00000444274.2_Splice_Site			O00470	MEIS1_HUMAN	Meis homeobox 1								sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						CTTGTATTTAGATTCGCGCAG	0.478000													5	36					0.000602214	0.000626112	0.184627	1	0
GNG2	54331	broad.mit.edu	37	14	52417477	52417477	+	Missense_Mutation	SNP	G	G	C			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr14:52417477G>C	ENST00000335281.4	+	2	487	c.81G>C	c.(79-81)agG>agC	p.R27S	GNG2_ENST00000557376.1_Missense_Mutation_p.R66S|GNG2_ENST00000556766.1_Missense_Mutation_p.R27S|GNG2_ENST00000553299.1_3'UTR|GNG2_ENST00000556752.1_Missense_Mutation_p.R27S|GNG2_ENST00000555472.1_Missense_Mutation_p.R27S|GNG2_ENST00000554736.1_Missense_Mutation_p.R27S|GNG2_ENST00000554875.1_Missense_Mutation_p.R56S|GNG2_ENST00000553432.1_Missense_Mutation_p.R58S	NM_001243774.1	NP_001230703.1	P59768	GBG2_HUMAN	guanine nucleotide binding protein (G protein), gamma 2	27					cellular response to glucagon stimulus|energy reserve metabolic process|platelet activation|synaptic transmission	heterotrimeric G-protein complex	protein binding|signal transducer activity			lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5	all_epithelial(31;0.0659)|Breast(41;0.0684)				Halothane(DB01159)	ATATCGACAGGATAAAGGTGA	0.493000													6	47					0	0	0.217242	0	0
ZCCHC2	54877	broad.mit.edu	37	18	60237391	60237391	+	Missense_Mutation	SNP	G	G	C			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr18:60237391G>C	ENST00000269499.5	+	12	2320	c.1902G>C	c.(1900-1902)gaG>gaC	p.E634D	ZCCHC2_ENST00000586834.1_Missense_Mutation_p.E313D	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	634					cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						CATCTTCAGAGAGTTACAGTT	0.363000													9	5					0	0	0.411799	0	0
CAST	831	broad.mit.edu	37	5	96073554	96073554	+	Splice_Site	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr5:96073554C>T	ENST00000395813.1	+	11	887	c.699_splice	c.e11-1	p.S234_splice	CAST_ENST00000508830.1_Splice_Site_p.S234_splice|CAST_ENST00000348386.3_3'UTR|CAST_ENST00000309190.5_Splice_Site_p.S129_splice|CAST_ENST00000511049.1_Splice_Site_p.S137_splice|CAST_ENST00000359176.4_Splice_Site_p.S215_splice|CAST_ENST00000510756.1_Splice_Site_p.S212_splice|CAST_ENST00000341926.3_Splice_Site_p.S151_splice|CAST_ENST00000395812.2_Splice_Site_p.S193_splice|CAST_ENST00000338252.3_Splice_Site_p.S151_splice|CAST_ENST00000504465.1_Splice_Site_p.S79_splice|CAST_ENST00000508608.1_Splice_Site_p.S197_splice|CAST_ENST00000509903.1_Splice_Site_p.S129_splice|CAST_ENST00000325674.7_Splice_Site_p.S212_splice|CAST_ENST00000511782.1_Splice_Site_p.S137_splice			P20810	ICAL_HUMAN	calpastatin	151							calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	22		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;6.85e-15)		CTTTTCCAGTCAGGCATGGAT	0.333000													28	90					0	0	0.729181	0	0
CR1	1378	broad.mit.edu	37	1	207787753	207787753	+	Nonsense_Mutation	SNP	C	C	T	rs55749440		TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr1:207787753C>T	ENST00000367049.4	+	40	6580	c.6580C>T	c.(6580-6582)Cga>Tga	p.R2194*	CR1_ENST00000367051.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000400960.2_Nonsense_Mutation_p.R1744*|CR1_ENST00000367052.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000367053.1_Nonsense_Mutation_p.R1744*	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1744					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	p.R1749*(9)|p.R2194*(9)|p.R1744*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTTTAGGTTCCGATTAAAAGG	0.423000													3	63					0	0	0.115264	0	0
SDHAP3	728609	broad.mit.edu	37	5	1589349	1589349	+	RNA	SNP	T	T	C			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr5:1589349T>C	ENST00000436493.2	-	0	529																											CCAGAGCGAGTCCAGGCTCTT	0.478000													17	80					0	0	0.575678	0	0
MORN3	283385	broad.mit.edu	37	12	122091132	122091132	+	Missense_Mutation	SNP	C	C	G			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr12:122091132C>G	ENST00000355329.3	-	4	667	c.497G>C	c.(496-498)aGa>aCa	p.R166T		NM_173855.4	NP_776254.3	Q6PF18	MORN3_HUMAN	MORN repeat containing 3	166										breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)		CTTCATGCCTCTCTCCCAGCA	0.597000													8	72					0	0	0.307466	0	0
PIK3CG	5294	broad.mit.edu	37	7	106513229	106513229	+	Silent	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr7:106513229G>A	ENST00000359195.3	+	4	2443	c.2133G>A	c.(2131-2133)caG>caA	p.Q711Q	PIK3CG_ENST00000496166.1_Silent_p.Q711Q|PIK3CG_ENST00000440650.2_Silent_p.Q711Q	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	711					G-protein coupled receptor protein 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|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						ACTATCAGCAGAGGTTCGCTG	0.448000													23	122					0	0	0.681144	0	0
ADHFE1	137872	broad.mit.edu	37	8	67364273	67364273	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr8:67364273G>T	ENST00000396623.3	+	9	851	c.820G>T	c.(820-822)Ggc>Tgc	p.G274C	ADHFE1_ENST00000496501.1_3'UTR|ADHFE1_ENST00000415254.1_Missense_Mutation_p.G226C|ADHFE1_ENST00000379385.4_Missense_Mutation_p.G274C	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	274					2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			TGCGTACCAGGGCAGCAACCC	0.537000													58	81					4.96213e-28	6.66024e-28	0.870114	1	0
TLR1	7096	broad.mit.edu	37	4	38798906	38798906	+	Missense_Mutation	SNP	A	A	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr4:38798906A>T	ENST00000308979.2	-	4	1820	c.1547T>A	c.(1546-1548)aTg>aAg	p.M516K	TLR1_ENST00000502213.2_Missense_Mutation_p.M516K	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN	toll-like receptor 1	516					cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						TATTGACCTCATCTTCTGGCA	0.438000													102	226					0	0	0.870114	0	0
OR2T4	127074	broad.mit.edu	37	1	248525658	248525658	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr1:248525658G>T	ENST00000366475.1	+	1	776	c.776G>T	c.(775-777)gGg>gTg	p.G259V		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	259					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)			ACCATCCACGGGATGAACTCA	0.512000													120	101					2.91707e-64	4.22718e-64	0.870114	1	0
NUP210L	91181	broad.mit.edu	37	1	154112379	154112379	+	Missense_Mutation	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr1:154112379C>T	ENST00000368559.3	-	5	687	c.616G>A	c.(616-618)Gag>Aag	p.E206K	NUP210L_ENST00000271854.3_Missense_Mutation_p.E206K	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	206						integral to membrane				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)			TTTTCCATCTCAGCTATATAT	0.353000													10	738					0	0	0.335167	0	0
C7orf43	55262	broad.mit.edu	37	7	99752721	99752721	+	Silent	SNP	G	G	C			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr7:99752721G>C	ENST00000316937.3	-	11	1841	c.1656C>G	c.(1654-1656)ctC>ctG	p.L552L	C7orf43_ENST00000419841.1_Silent_p.L320L|C7orf43_ENST00000394035.2_Silent_p.L128L|C7orf43_ENST00000457641.1_Silent_p.L283L	NM_018275.3	NP_060745.3	Q8WVR3	CG043_HUMAN	chromosome 7 open reading frame 43	552										breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1)	10	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGGGCAGGTAGAGGGGGCGGC	0.652000													31	137					0	0	0.779181	0	0
POM121L12	285877	broad.mit.edu	37	7	53103903	53103903	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr7:53103903G>A	ENST00000408890.4	+	1	555	c.539G>A	c.(538-540)gGg>gAg	p.G180E		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	180										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						ACTCTGCTGGGGGCGCTCAGC	0.716000													23	28					0	0	0.639603	0	0
CCDC146	57639	broad.mit.edu	37	7	76891544	76891544	+	Nonsense_Mutation	SNP	A	A	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr7:76891544A>T	ENST00000285871.4	+	9	1220	c.1093A>T	c.(1093-1095)Aga>Tga	p.R365*	CCDC146_ENST00000431197.1_Nonsense_Mutation_p.R111*|CCDC146_ENST00000415740.2_3'UTR	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	365										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				TCGAAATTTAAGAAAGATGGA	0.413000													33	122					0	0	0.788014	0	0
LAMA5	3911	broad.mit.edu	37	20	60887534	60887534	+	Missense_Mutation	SNP	G	G	C			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr20:60887534G>C	ENST00000252999.3	-	68	9348	c.9282C>G	c.(9280-9282)atC>atG	p.I3094M		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3094	Laminin G-like 2.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCAGGGCCTTGATGCCTTTGA	0.692000													4	40					0	0	0.217242	0	0
KAT6B	23522	broad.mit.edu	37	10	76732321	76732321	+	Missense_Mutation	SNP	G	G	C			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr10:76732321G>C	ENST00000287239.4	+	7	1474	c.985G>C	c.(985-987)Gag>Cag	p.E329Q	KAT6B_ENST00000372711.1_Missense_Mutation_p.E329Q|KAT6B_ENST00000372714.1_Missense_Mutation_p.E329Q|KAT6B_ENST00000372725.1_Missense_Mutation_p.E329Q|KAT6B_ENST00000372724.1_Missense_Mutation_p.E329Q	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B	329					histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										ACTACTTCATGAGAAAGCTGC	0.323000													38	128					0	0	0.864702	0	0
FMOD	2331	broad.mit.edu	37	1	203316693	203316693	+	Silent	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr1:203316693G>T	ENST00000354955.4	-	2	1169	c.706C>A	c.(706-708)Cgg>Agg	p.R236R	FMOD_ENST00000464898.1_5'UTR	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	236					transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			GGCACCTTCCGAAGGTGGTTA	0.572000													69	192					3.1711e-36	4.41929e-36	0.870114	1	0
NALCN	259232	broad.mit.edu	37	13	101714330	101714330	+	Missense_Mutation	SNP	C	C	G			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr13:101714330C>G	ENST00000251127.6	-	41	4826	c.4745G>C	c.(4744-4746)cGc>cCc	p.R1582P		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1582						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)					AGCTCTGATGCGCTTCAGGCA	0.607000													44	36					0	0	0.870114	0	0
TRIML1	339976	broad.mit.edu	37	4	189068190	189068190	+	Silent	SNP	C	C	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr4:189068190C>A	ENST00000332517.3	+	6	1211	c.1071C>A	c.(1069-1071)atC>atA	p.I357I	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	357	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		AAGTGGGCATCTGCAAGGACT	0.532000													16	71					1.67942e-08	1.87078e-08	0.539581	1	0
OR10G7	390265	broad.mit.edu	37	11	123909115	123909115	+	Silent	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr11:123909115G>T	ENST00000330487.5	-	1	602	c.594C>A	c.(592-594)atC>atA	p.I198I		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TATTCACAAAGATGACCATCT	0.557000													70	305					2.36135e-34	3.27688e-34	0.870114	1	0
HP1BP3	50809	broad.mit.edu	37	1	21071536	21071536	+	Silent	SNP	C	C	G			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr1:21071536C>G	ENST00000375003.2	-	9	2460	c.960G>C	c.(958-960)gtG>gtC	p.V320V	HP1BP3_ENST00000312239.5_Silent_p.V472V			Q5SSJ5	HP1B3_HUMAN	heterochromatin protein 1, binding protein 3	472	H15 2.				nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		CTCTCTGCTTCACAGATGCGG	0.532000													13	109					0	0	0.520397	0	0
RELN	5649	broad.mit.edu	37	7	103234147	103234147	+	Silent	SNP	T	T	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr7:103234147T>A	ENST00000428762.1	-	27	4053	c.3894A>T	c.(3892-3894)ggA>ggT	p.G1298G	RELN_ENST00000424685.2_Silent_p.G1298G|RELN_ENST00000343529.5_Silent_p.G1298G	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1298					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)		GTAGCACATATCCAGGTTTCA	0.393000													81	157					0	0	0.870114	0	0
C17orf102	400591	broad.mit.edu	37	17	32906102	32906102	+	Silent	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr17:32906102G>T	ENST00000357754.1	-	1	286	c.198C>A	c.(196-198)ggC>ggA	p.G66G		NM_207454.2	NP_997337.2	A2RUQ5	CQ102_HUMAN	chromosome 17 open reading frame 102	66										central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(3)|ovary(1)	9						CCCTACCCGCGCCTCTGGAAG	0.677000													62	59					1.34568e-36	1.87936e-36	0.870114	1	0
ST14	6768	broad.mit.edu	37	11	130060525	130060525	+	Missense_Mutation	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr11:130060525C>T	ENST00000278742.5	+	7	1229	c.811C>T	c.(811-813)Cgc>Tgc	p.R271C		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	271	CUB 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	CTGCGACGAGCGCGGCAGCGA	0.701000													6	14					0	0	0.278610	0	0
ARID1A	8289	broad.mit.edu	37	1	27087936	27087936	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr1:27087936G>A	ENST00000324856.7	+	6	2594	c.2223G>A	c.(2221-2223)atG>atA	p.M741I	ARID1A_ENST00000457599.2_Missense_Mutation_p.M741I|ARID1A_ENST00000374152.2_Missense_Mutation_p.M358I	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	741					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	nBAF complex|npBAF complex|SWI/SNF 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)		ATCCTTCCATGAACCAATCAA	0.542000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								16	90					0	0	0.557998	0	0
SYN1	6853	broad.mit.edu	37	X	47434534	47434534	+	Missense_Mutation	SNP	T	T	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chrX:47434534T>A	ENST00000295987.7	-	10	1422	c.1298A>T	c.(1297-1299)cAt>cTt	p.H433L	SYN1_ENST00000340666.4_Missense_Mutation_p.H433L	NM_006950.3	NP_008881.2	P17600	SYN1_HUMAN	synapsin I	433	D; Pro-rich linker.					cell junction|Golgi apparatus	actin binding|ATP binding|ligase activity|transporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(6)|lung(6)|ovary(1)	21						GACCTGGCCATGGGAGCCCCT	0.627000													5	2					0	0	0.248553	0	0
TCHHL1	126637	broad.mit.edu	37	1	152060528	152060528	+	Missense_Mutation	SNP	C	C	G			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr1:152060528C>G	ENST00000368806.1	-	2	156	c.92G>C	c.(91-93)aGa>aCa	p.R31T		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	31							calcium ion binding	p.R31K(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TTTCAGCTCTCTGCCAGTCAG	0.448000													76	281					0	0	0.870114	0	0
KIF17	57576	broad.mit.edu	37	1	21013919	21013919	+	Missense_Mutation	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr1:21013919C>T	ENST00000247986.2	-	8	2210	c.1900G>A	c.(1900-1902)Gat>Aat	p.D634N	KIF17_ENST00000400463.3_Missense_Mutation_p.D634N|KIF17_ENST00000375044.1_Missense_Mutation_p.D534N|KIF17_ENST00000490034.1_Intron			Q9P2E2	KIF17_HUMAN	kinesin family member 17	634					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TGGGGTGCATCTGTCCTGGCC	0.652000													20	144					0	0	0.608945	0	0
CLEC14A	161198	broad.mit.edu	37	14	38724628	38724628	+	Silent	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr14:38724628G>A	ENST00000342213.2	-	1	946	c.600C>T	c.(598-600)agC>agT	p.S200S		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	200						integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		CCAGAGCGGCGCTGTGCAGCT	0.642000													6	72					0	0	0.217242	0	0
SYNE2	23224	broad.mit.edu	37	14	64522939	64522939	+	Nonsense_Mutation	SNP	C	C	G			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr14:64522939C>G	ENST00000358025.3	+	49	10252	c.10022C>G	c.(10021-10023)tCa>tGa	p.S3341*	SYNE2_ENST00000554584.1_Nonsense_Mutation_p.S3374*|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Nonsense_Mutation_p.S3341*	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3341					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	p.S3341*(1)		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)		TCTAAGAACTCAGCAATGAAG	0.403000													12	40					0	0	0.500413	0	0
FOXS1	2307	broad.mit.edu	37	20	30432421	30432421	+	Missense_Mutation	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr20:30432421C>T	ENST00000375978.3	-	1	999	c.925G>A	c.(925-927)Ggc>Agc	p.G309S		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	309					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						TAGCCGGAGCCTCCCTGGACA	0.647000													10	67					0	0	0.387290	0	0
SEPP1	6414	broad.mit.edu	37	5	42807080	42807080	+	Missense_Mutation	SNP	G	G	A	rs28919895		TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr5:42807080G>A	ENST00000514985.1	-	3	590	c.334C>T	c.(334-336)Cct>Tct	p.P112S	SEPP1_ENST00000507920.1_Intron|SEPP1_ENST00000511224.1_Missense_Mutation_p.P112S|SEPP1_ENST00000506577.1_Missense_Mutation_p.P112S|CTD-2325A15.5_ENST00000606056.1_RNA|SEPP1_ENST00000509276.1_Intron	NM_005410.2	NP_005401.3	P49908	SEPP1_HUMAN	selenoprotein P, plasma, 1	112			P -> S.		response to oxidative stress	extracellular region	selenium binding			kidney(10)|large_intestine(1)|lung(4)	15						TGATAAACAGGAATATGCTCT	0.308000													24	117					0	0	0.639603	0	0
CXorf38	159013	broad.mit.edu	37	X	40506712	40506712	+	Missense_Mutation	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chrX:40506712C>T	ENST00000327877.5	-	1	87	c.61G>A	c.(61-63)Gcg>Acg	p.A21T	CXorf38_ENST00000378421.1_5'UTR|CXorf38_ENST00000378426.1_5'UTR|CXorf38_ENST00000440784.2_Missense_Mutation_p.A21T|CXorf38_ENST00000378418.2_Missense_Mutation_p.A21T	NM_144970.2	NP_659407.1	Q8TB03	CX038_HUMAN	chromosome X open reading frame 38	21										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	12						CAGTGGCCCGCCTTCACCCAG	0.682000													4	63					0	0	0.150653	0	0
NRD1	4898	broad.mit.edu	37	1	52299742	52299742	+	Silent	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr1:52299742G>A	ENST00000354831.7	-	6	1206	c.1017C>T	c.(1015-1017)cgC>cgT	p.R339R	NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000539524.1_Silent_p.R207R|NRD1_ENST00000352171.7_Silent_p.R271R|NRD1_ENST00000544028.1_Silent_p.R139R	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	270					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						GAAAGACAGTGCGTTCACAAT	0.378000													36	148					0	0	0.853193	0	0
SYNE2	23224	broad.mit.edu	37	14	64469506	64469506	+	Silent	SNP	A	A	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr14:64469506A>T	ENST00000358025.3	+	30	4085	c.3855A>T	c.(3853-3855)gtA>gtT	p.V1285V	SYNE2_ENST00000554584.1_Silent_p.V1285V|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Silent_p.V1285V	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1285					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GCAACTTTGTATTAAAGGAGT	0.353000													44	52					0	0	0.870114	0	0
GSTO2	119391	broad.mit.edu	37	10	106057398	106057398	+	Silent	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr10:106057398C>T	ENST00000450629.2	+	5	1057	c.429C>T	c.(427-429)ctC>ctT	p.L143L	GSTO2_ENST00000429569.2_Intron|GSTO2_ENST00000338595.2_Silent_p.L177L|GSTO2_ENST00000369707.1_Silent_p.L149L	NM_001191013.1	NP_001177942.1	Q9H4Y5	GSTO2_HUMAN	glutathione S-transferase omega 2	177	GST C-terminal.				water-soluble vitamin metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11		Colorectal(252;0.178)		Epithelial(162;1.14e-09)|all cancers(201;3.89e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0155)	Glutathione(DB00143)	TTGATTACCTCCTCTGGCCCT	0.408000											OREG0020517	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	72					0	0	0.520397	0	0
IFIH1	64135	broad.mit.edu	37	2	163130423	163130423	+	Missense_Mutation	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr2:163130423C>T	ENST00000263642.2	-	12	2731	c.2336G>A	c.(2335-2337)cGc>cAc	p.R779H		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	779	Helicase C-terminal.				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						TTTTCCAGTGCGAAATTTACT	0.313000													11	75					0	0	0.435327	0	0
MROH7	374977	broad.mit.edu	37	1	55138821	55138821	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr1:55138821G>A	ENST00000414150.2	+	8	1935	c.1657G>A	c.(1657-1659)Gag>Aag	p.E553K	MROH7_ENST00000421030.2_Missense_Mutation_p.E553K|MROH7_ENST00000545244.1_Missense_Mutation_p.E121K|MROH7_ENST00000454855.2_Missense_Mutation_p.E71K|MROH7_ENST00000339553.5_Missense_Mutation_p.E553K|MROH7_ENST00000395690.2_Missense_Mutation_p.E553K|MROH7_ENST00000409996.1_Missense_Mutation_p.E121K					maestro heat-like repeat family member 7																		CCTCTTTATCGAGGACCCCAC	0.592000													11	40					0	0	0.435327	0	0
GNPTAB	79158	broad.mit.edu	37	12	102164787	102164787	+	Missense_Mutation	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr12:102164787C>T	ENST00000299314.7	-	8	1182	c.920G>A	c.(919-921)aGc>aAc	p.S307N	GNPTAB_ENST00000549940.1_Missense_Mutation_p.S307N	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	307					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						GCTGATGGCGCTCAGATCCCA	0.383000													6	199					0	0	0.335167	0	0
OR5M3	219482	broad.mit.edu	37	11	56237475	56237475	+	Missense_Mutation	SNP	A	A	G			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr11:56237475A>G	ENST00000312240.2	-	1	539	c.499T>C	c.(499-501)Tgt>Cgt	p.C167R		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					ATTTTTCCACAGAAGTACAAG	0.398000													41	115					0	0	0.870114	0	0
XIRP2	129446	broad.mit.edu	37	2	168074719	168074719	+	Missense_Mutation	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr2:168074719C>T	ENST00000409195.1	+	5	856	c.767C>T	c.(766-768)gCc>gTc	p.A256V	XIRP2_ENST00000295237.9_Missense_Mutation_p.A256V|XIRP2_ENST00000420519.1_Missense_Mutation_p.A289V|XIRP2_ENST00000409728.1_Missense_Mutation_p.A289V|XIRP2_ENST00000409605.1_Missense_Mutation_p.A34V|XIRP2_ENST00000409273.1_Missense_Mutation_p.A34V|XIRP2_ENST00000409043.1_Missense_Mutation_p.A256V|XIRP2_ENST00000409756.2_Missense_Mutation_p.A256V	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	81					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						GGTGGTTTGGCCAAGGTGAAG	0.403000													33	71					0	0	0.804634	0	0
CST11	140880	broad.mit.edu	37	20	23432523	23432523	+	Missense_Mutation	SNP	T	T	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr20:23432523T>A	ENST00000377009.3	-	2	296	c.263A>T	c.(262-264)gAa>gTa	p.E88V	CST11_ENST00000377007.3_Intron	NM_130794.1	NP_570612.1	Q9H112	CST11_HUMAN	cystatin 11	88					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)					CCACTGCATTTCCACATTCAG	0.562000													11	70					0	0	0.667858	0	0
AHR	196	broad.mit.edu	37	7	17379756	17379756	+	Silent	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr7:17379756G>T	ENST00000242057.4	+	10	2950	c.2307G>T	c.(2305-2307)gtG>gtT	p.V769V		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	769					apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					CTGGGGCCGTGTCGATGTATC	0.453000													42	169					6.21074e-16	7.69005e-16	0.859065	1	0
SLC7A4	6545	broad.mit.edu	37	22	21385925	21385925	+	Silent	SNP	T	T	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr22:21385925T>A	ENST00000382932.2	-	2	244	c.177A>T	c.(175-177)acA>acT	p.T59T	AC002472.11_ENST00000450652.1_RNA|SLC7A4_ENST00000403586.1_Silent_p.T59T	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	59					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)	CCACGGCACCTGTGAGCACGT	0.642000													6	36					0	0	0.217242	0	0
PRPF4B	8899	broad.mit.edu	37	6	4047454	4047454	+	Missense_Mutation	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr6:4047454C>T	ENST00000337659.6	+	7	2007	c.1907C>T	c.(1906-1908)tCt>tTt	p.S636F	PRPF4B_ENST00000538861.1_Missense_Mutation_p.S622F	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	636						catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				TTTACAGAATCTGATGATATG	0.279000													18	133					0	0	0.624587	0	0
FAM47C	442444	broad.mit.edu	37	X	37026967	37026967	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chrX:37026967G>A	ENST00000358047.3	+	1	536	c.484G>A	c.(484-486)Gca>Aca	p.A162T		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	162								p.A162P(4)		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						GCTGGAGGACGCAGGCTCTTG	0.582000													3	26					0	0	0.115264	0	0
UBBP4	23666	broad.mit.edu	37	17	21731313	21731313	+	Silent	SNP	G	G	C			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr17:21731313G>C	ENST00000584755.1	+	2	1012	c.615G>C	c.(613-615)gcG>gcC	p.A205A	UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Intron														p.A205A(2)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GGAAGATGGCGGTACTCTTTC	0.517000													59	34					0	0	0.870114	0	0
MUC17	140453	broad.mit.edu	37	7	100692124	100692124	+	Splice_Site	SNP	A	A	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr7:100692124A>T	ENST00000306151.4	+	5	12599		c.e5-1			NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated							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)					TACCCGCCTCAGGGCCACCGG	0.512000													68	129					0	0	0.870114	0	0
PCDH15	65217	broad.mit.edu	37	10	55892758	55892758	+	Silent	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr10:55892758G>A	ENST00000373965.2	-	16	2209	c.1815C>T	c.(1813-1815)atC>atT	p.I605I	PCDH15_ENST00000409834.1_Silent_p.I209I|PCDH15_ENST00000395430.1_Silent_p.I598I|PCDH15_ENST00000414778.1_Silent_p.I603I|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373955.1_Silent_p.I598I|PCDH15_ENST00000437009.1_Intron|PCDH15_ENST00000395433.1_Silent_p.I576I|PCDH15_ENST00000373957.3_Silent_p.I576I|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000361849.3_Silent_p.I598I|PCDH15_ENST00000395438.1_Silent_p.I598I|PCDH15_ENST00000395445.1_Silent_p.I605I|PCDH15_ENST00000395432.2_Silent_p.I561I|PCDH15_ENST00000395446.1_Silent_p.I598I|PCDH15_ENST00000320301.6_Silent_p.I598I	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	598	Cadherin 5.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ACACAGTGCAGATGGAGTTCC	0.418000										HNSCC(58;0.16)			12	57					0	0	0.479597	0	0
CUX1	1523	broad.mit.edu	37	7	101877436	101877436	+	Nonsense_Mutation	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr7:101877436G>T	ENST00000360264.3	+	22	3591	c.3571G>T	c.(3571-3573)Gag>Tag	p.E1191*	CUX1_ENST00000560541.1_Intron|CUX1_ENST00000556210.1_Nonsense_Mutation_p.E1022*|CUX1_ENST00000550008.2_Nonsense_Mutation_p.E1124*|CUX1_ENST00000549414.2_Nonsense_Mutation_p.E1158*|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000546411.2_Nonsense_Mutation_p.E1078*|CUX1_ENST00000292535.7_Nonsense_Mutation_p.E1180*|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000393824.3_Intron	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	1180					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						GAAAGGACGAGAGCCCTTCGT	0.562000													17	105					3.41278e-10	3.90799e-10	0.520397	1	0
ABCA12	26154	broad.mit.edu	37	2	215919300	215919300	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr2:215919300G>T	ENST00000272895.7	-	4	625	c.406C>A	c.(406-408)Cta>Ata	p.L136I		NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	136					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AGCTTACCTAGTGATGCATGC	0.373000													46	141					1.44036e-42	2.03327e-42	0.870114	1	0
PCDHGA3	56112	broad.mit.edu	37	5	140724253	140724253	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr5:140724253G>A	ENST00000253812.6	+	1	653	c.653G>A	c.(652-654)gGc>gAc	p.G218D	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGATGGTGGCGACCCTGTC	0.537000													8	51					0	0	0.335167	0	0
XKR7	343702	broad.mit.edu	37	20	30584967	30584967	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr20:30584967G>A	ENST00000217299.3	+	3	1621	c.1447G>A	c.(1447-1449)Gag>Aag	p.E483K		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	483						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TACAGGTGCTGAGCGGGATGG	0.687000													7	53					0	0	0.248553	0	0
ILDR2	387597	broad.mit.edu	37	1	166927196	166927196	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr1:166927196C>A	ENST00000271417.3	-	2	244	c.189G>T	c.(187-189)caG>caT	p.Q63H	ILDR2_ENST00000525740.1_Missense_Mutation_p.Q63H|ILDR2_ENST00000529071.1_Missense_Mutation_p.Q63H|ILDR2_ENST00000469934.2_Missense_Mutation_p.Q63H|ILDR2_ENST00000529387.1_Missense_Mutation_p.Q63H|ILDR2_ENST00000526687.1_Missense_Mutation_p.Q63H|ILDR2_ENST00000528703.1_Missense_Mutation_p.Q63H	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	63	Ig-like V-type.					integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						CCATGCGATCCTGGCAGTAGG	0.552000													89	254					6.78028e-52	9.71791e-52	0.870114	1	0
SCN3B	55800	broad.mit.edu	37	11	123513205	123513205	+	Silent	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr11:123513205G>T	ENST00000392770.2	-	3	1196	c.394C>A	c.(394-396)Cgg>Agg	p.R132R	SCN3B_ENST00000530277.1_Silent_p.R132R|SCN3B_ENST00000299333.3_Silent_p.R132R	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit	132	Ig-like C2-type.				axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity	p.R132W(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		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;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)		ACAAAGGGCCGATGCGCCTCA	0.597000													44	75					4.0306e-16	5.00008e-16	0.870114	1	0
PSG5	5673	broad.mit.edu	37	19	43689096	43689096	+	Missense_Mutation	SNP	T	T	C			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr19:43689096T>C	ENST00000404580.1	-	2	356	c.268A>G	c.(268-270)Ata>Gta	p.I90V	PSG5_ENST00000407356.1_Missense_Mutation_p.I90V|PSG5_ENST00000342951.6_Missense_Mutation_p.I90V|PSG5_ENST00000401992.1_5'UTR|PSG5_ENST00000366175.3_Missense_Mutation_p.I90V|PSG5_ENST00000599812.1_Missense_Mutation_p.I90V|PSG5_ENST00000407568.1_Missense_Mutation_p.I90V			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	90	Ig-like V-type.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				GGCCCATATATATTTATTTGA	0.438000													212	383					0	0	0.870114	0	0
CENPF	1063	broad.mit.edu	37	1	214818845	214818845	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr1:214818845G>T	ENST00000366955.3	+	13	6100	c.5932G>T	c.(5932-5934)Gat>Tat	p.D1978Y		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2074					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		CACGGCACTGGATCAGTTGTC	0.438000													13	72					0.0202918	0.0207027	0.457914	1	0
PLEC	5339	broad.mit.edu	37	8	144992003	144992003	+	Missense_Mutation	SNP	C	C	G			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr8:144992003C>G	ENST00000322810.4	-	32	12566	c.12397G>C	c.(12397-12399)Gtg>Ctg	p.V4133L	PLEC_ENST00000436759.2_Missense_Mutation_p.V4023L|PLEC_ENST00000354958.2_Missense_Mutation_p.V3974L|PLEC_ENST00000345136.3_Missense_Mutation_p.V3996L|PLEC_ENST00000357649.2_Missense_Mutation_p.V4000L|PLEC_ENST00000356346.3_Missense_Mutation_p.V3982L|PLEC_ENST00000398774.2_Missense_Mutation_p.V3964L|PLEC_ENST00000527096.1_Missense_Mutation_p.V4019L|PLEC_ENST00000354589.3_Missense_Mutation_p.V3996L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4133	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCGGGGCCCACAATGCCCATA	0.627000													19	48					0	0	0.608945	0	0
CLCA1	1179	broad.mit.edu	37	1	86939560	86939560	+	Splice_Site	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr1:86939560G>T	ENST00000234701.3	+	4	802		c.e4+1		CLCA1_ENST00000394711.1_Splice_Site			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1						calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		GGACCACAAGGTATGAAATAT	0.373000													31	60					2.68265e-12	3.15464e-12	0.769981	1	0
COL14A1	7373	broad.mit.edu	37	8	121239521	121239521	+	Silent	SNP	T	T	C			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr8:121239521T>C	ENST00000297848.3	+	17	2337	c.2067T>C	c.(2065-2067)taT>taC	p.Y689Y	COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000309791.4_Silent_p.Y689Y|COL14A1_ENST00000247781.3_Silent_p.Y594Y	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	689	Fibronectin type-III 5.				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)			GTACGGAGTATGAAGTTTCAC	0.468000													63	81					0	0	0.870114	0	0
PHLDB1	23187	broad.mit.edu	37	11	118501990	118501990	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr11:118501990G>A	ENST00000361417.2	+	8	2305	c.1894G>A	c.(1894-1896)Gag>Aag	p.E632K	PHLDB1_ENST00000356063.5_Missense_Mutation_p.E632K|PHLDB1_ENST00000534672.1_3'UTR	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	632										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)		TGGGGGACCTGAGGCTGGGGA	0.672000													29	302					0	0	0.717897	0	0
ATP9A	10079	broad.mit.edu	37	20	50329530	50329530	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr20:50329530C>A	ENST00000338821.5	-	4	675	c.411G>T	c.(409-411)caG>caT	p.Q137H	ATP9A_ENST00000402822.1_Missense_Mutation_p.Q137H|ATP9A_ENST00000311637.5_Missense_Mutation_p.Q122H	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	137					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						GGCTGTAGACCTGGGAGTTGA	0.617000											OREG0026044	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	32					5.18039e-06	5.57169e-06	0.278610	1	0
NRXN2	9379	broad.mit.edu	37	11	64374723	64374723	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr11:64374723G>A	ENST00000265459.6	-	23	5545	c.5084C>T	c.(5083-5085)gCc>gTc	p.A1695V	NRXN2_ENST00000377551.1_Missense_Mutation_p.A1695V|NRXN2_ENST00000301894.2_Missense_Mutation_p.A649V|NRXN2_ENST00000377559.3_Missense_Mutation_p.A1625V|NRXN2_ENST00000409571.1_Missense_Mutation_p.A1688V	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	1695					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						CGTCTTGGGGGCAGCCGGGGC	0.612000													4	53					0	0	0.150653	0	0
RAG1	5896	broad.mit.edu	37	11	36595131	36595131	+	Missense_Mutation	SNP	G	G	C			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr11:36595131G>C	ENST00000299440.5	+	2	389	c.277G>C	c.(277-279)Gac>Cac	p.D93H		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	93	Interaction with importin alpha-1.				histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GAAATTTCACGACAACGAGAA	0.488000									Familial Hemophagocytic Lymphohistiocytosis				33	77					0	0	0.750413	0	0
AIRE	326	broad.mit.edu	37	21	45711020	45711020	+	Missense_Mutation	SNP	C	C	G			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr21:45711020C>G	ENST00000291582.5	+	8	1049	c.922C>G	c.(922-924)Ctc>Gtc	p.L308V	AIRE_ENST00000355347.4_Missense_Mutation_p.L101V|AIRE_ENST00000329347.4_Missense_Mutation_p.L101V	NM_000383.3	NP_000374.1	O43918	AIRE_HUMAN	autoimmune regulator	308	Interaction with histone H3 not methylated at 'Lys-4'.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		CGGCGGGGAGCTCATCTGCTG	0.672000									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy				17	66					0	0	0.520397	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24889620	24889620	+	Silent	SNP	T	T	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr10:24889620T>A	ENST00000396432.2	-	14	3573	c.3087A>T	c.(3085-3087)ctA>ctT	p.L1029L	ARHGAP21_ENST00000320481.6_Silent_p.L816L|ARHGAP21_ENST00000493154.1_5'UTR	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1028	Interaction with ARF1 and ARF6.|PH.				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TGATCCAAGCTAGCATATCAT	0.458000													88	101					0	0	0.870114	0	0
ZNF443	10224	broad.mit.edu	37	19	12542522	12542522	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr19:12542522G>A	ENST00000301547.5	-	4	661	c.464C>T	c.(463-465)tCa>tTa	p.S155L	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806.2	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	155					induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						TGTTTGAAATGAGTTGTGGTA	0.428000													14	125					0	0	0.479597	0	0
TJP2	9414	broad.mit.edu	37	9	71851939	71851939	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr9:71851939G>A	ENST00000377245.4	+	14	2274	c.2066G>A	c.(2065-2067)cGt>cAt	p.R689H	TJP2_ENST00000265384.7_Missense_Mutation_p.R689H|TJP2_ENST00000539225.1_Missense_Mutation_p.R720H|TJP2_ENST00000348208.4_Missense_Mutation_p.R689H|TJP2_ENST00000453658.2_Missense_Mutation_p.R666H|TJP2_ENST00000535702.1_Missense_Mutation_p.R693H	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	689	Guanylate kinase-like.				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						TGGAGAATGCGTGGCCAGAGG	0.517000													45	217					0	0	0.870114	0	0
CD8A	925	broad.mit.edu	37	2	87017794	87017794	+	Silent	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr2:87017794C>T	ENST00000409511.2	-	5	1090	c.60G>A	c.(58-60)agG>agA	p.R20R	CD8A_ENST00000283635.3_Silent_p.R20R|CD8A_ENST00000409781.1_Silent_p.R20R|CD8A_ENST00000352580.3_Silent_p.R20R|CD8A_ENST00000456996.2_Silent_p.R20R|CD8A_ENST00000538832.1_Silent_p.R61R	NM_001145873.1	NP_001139345.1	P01732	CD8A_HUMAN	CD8a molecule	20					antigen processing and presentation|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding			lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	8						ACTGGCTCGGCCTGGCGGCGT	0.726000													7	19					0	0	0.278610	0	0
ZNF793	390927	broad.mit.edu	37	19	38024289	38024289	+	Silent	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr19:38024289G>T	ENST00000445217.1	+	3	257	c.222G>T	c.(220-222)ccG>ccT	p.P74P	ZNF793_ENST00000589319.1_Silent_p.P74P|ZNF793_ENST00000587986.1_Silent_p.P74P|ZNF793_ENST00000587143.1_Silent_p.P74P|ZNF793_ENST00000542455.1_Silent_p.P74P|ZNF793_ENST00000588578.1_Silent_p.P74P			Q6ZN11	ZN793_HUMAN	zinc finger protein 793	74	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CAGCATGCCCGGGCTGCCACT	0.498000													32	130					7.11191e-15	8.61053e-15	0.769981	1	0
GALNTL5	168391	broad.mit.edu	37	7	151704998	151704998	+	Missense_Mutation	SNP	G	G	C			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr7:151704998G>C	ENST00000392800.2	+	7	1249	c.995G>C	c.(994-996)tGg>tCg	p.W332S	GALNTL5_ENST00000483959.1_3'UTR|GALNTL5_ENST00000431418.2_Missense_Mutation_p.W332S	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5	332	Catalytic subdomain B.					Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		ATGGATTTTTGGGGAAGAGAA	0.358000													32	139					0	0	0.769981	0	0
TMEM176B	28959	broad.mit.edu	37	7	150490634	150490634	+	Missense_Mutation	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr7:150490634C>T	ENST00000447204.2	-	4	742	c.370G>A	c.(370-372)Gct>Act	p.A124T	TMEM176B_ENST00000326442.5_Missense_Mutation_p.A124T|TMEM176B_ENST00000492607.1_Missense_Mutation_p.A124T|TMEM176B_ENST00000429904.2_Missense_Mutation_p.A124T|TMEM176B_ENST00000434545.1_Missense_Mutation_p.A124T|TMEM176B_ENST00000450753.2_Missense_Mutation_p.A87T	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	transmembrane protein 176B	124					cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGACTCACAGCAAGTTTGCCC	0.507000													9	19					0	0	0.335167	0	0
STMN4	81551	broad.mit.edu	37	8	27097617	27097617	+	Silent	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr8:27097617G>T	ENST00000350889.4	-	6	575	c.462C>A	c.(460-462)atC>atA	p.I154I	STMN4_ENST00000523048.1_Silent_p.I154I|STMN4_ENST00000265770.7_Silent_p.I127I|STMN4_ENST00000519614.1_Silent_p.I127I|STMN4_ENST00000519997.1_Silent_p.I118I|STMN4_ENST00000522908.1_Silent_p.I154I	NM_030795.2	NP_110422.2	Q9H169	STMN4_HUMAN	stathmin-like 4	127					intracellular signal transduction					endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	11		Ovarian(32;0.00167)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0214)|Epithelial(17;9.82e-10)|Colorectal(74;0.142)		TGGCCTTTTGGATCACCTCTC	0.507000													48	32					1.4709e-25	1.94242e-25	0.870114	1	0
PI4KA	5297	broad.mit.edu	37	22	21119900	21119900	+	Missense_Mutation	SNP	G	G	C			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr22:21119900G>C	ENST00000255882.6	-	20	2496	c.2410C>G	c.(2410-2412)Ctg>Gtg	p.L804V	PI4KA_ENST00000572273.1_Missense_Mutation_p.L746V|PI4KA_ENST00000466162.1_5'UTR	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	746					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)			AATCCCATCAGAACGGAATAC	0.542000													26	217					0	0	0.788014	0	0
ZNRF3	84133	broad.mit.edu	37	22	29446408	29446408	+	Missense_Mutation	SNP	G	G	C			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr22:29446408G>C	ENST00000544604.2	+	8	2414	c.2239G>C	c.(2239-2241)Ggt>Cgt	p.G747R	ZNRF3_ENST00000402174.1_Missense_Mutation_p.G647R|ZNRF3_ENST00000406323.3_Missense_Mutation_p.G647R|ZNRF3_ENST00000332811.4_Missense_Mutation_p.G647R	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	747						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						TGGCCCGGCGGGTGGGGAGCC	0.692000													15	17					0	0	0.592651	0	0
FOXP2	93986	broad.mit.edu	37	7	114270000	114270000	+	Silent	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr7:114270000G>A	ENST00000393500.3	+	11	1132	c.312G>A	c.(310-312)caG>caA	p.Q104Q	FOXP2_ENST00000393498.2_Silent_p.Q159Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000393494.2_Silent_p.Q179Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q			O15409	FOXP2_HUMAN	forkhead box P2	179	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	p.Q204Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcaacaacagcagcagcagc	0.498000													5	85					0	0	0.184627	0	0
FER1L6	654463	broad.mit.edu	37	8	124989743	124989743	+	Silent	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr8:124989743G>A	ENST00000522917.1	+	10	1163	c.957G>A	c.(955-957)cgG>cgA	p.R319R	FER1L6_ENST00000399018.1_Silent_p.R319R	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	319	C2 2.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CCTTGTGTCGGAGGGTGAAAA	0.502000													55	133					0	0	0.870114	0	0
NUAK1	9891	broad.mit.edu	37	12	106460807	106460807	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr12:106460807C>A	ENST00000261402.2	-	7	3138	c.1759G>T	c.(1759-1761)Gat>Tat	p.D587Y		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	587							ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						TCCTGCAAATCCAGCAAGTCA	0.622000													9	19					0.000673444	0.000697952	0.361761	1	0
FCGBP	8857	broad.mit.edu	37	19	40424295	40424295	+	Silent	SNP	G	G	A	rs143580189	byFrequency	TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr19:40424295G>A	ENST00000221347.6	-	4	1915	c.1908C>T	c.(1906-1908)ttC>ttT	p.F636F		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	636	VWFD 1.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			AGCTACTTGCGAACTCCACAG	0.602000													26	553					0	0	0.667858	0	0
GNAT3	346562	broad.mit.edu	37	7	80088083	80088083	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr7:80088083C>A	ENST00000398291.3	-	8	1062	c.969G>T	c.(967-969)atG>atT	p.M323I	CD36_ENST00000435819.1_Intron	NM_001102386.1	NP_001095856.1	A8MTJ3	GNAT3_HUMAN	guanine nucleotide binding protein, alpha transducing 3	323					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|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						TAGCACAGGTCATGTGGGAAT	0.348000													13	23					1.5842e-08	1.77074e-08	0.435327	1	0
ZNF229	7772	broad.mit.edu	37	19	44932620	44932620	+	Missense_Mutation	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr19:44932620C>T	ENST00000291187.4	-	6	2640	c.2318G>A	c.(2317-2319)cGc>cAc	p.R773H	ZNF229_ENST00000591289.1_Intron|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000588931.1_Missense_Mutation_p.R779H	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	779					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				ACAGGAGTTGCGGCCAAAGCC	0.517000													10	101					0	0	0.335167	0	0
WDR66	144406	broad.mit.edu	37	12	122361648	122361648	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr12:122361648G>A	ENST00000288912.4	+	3	1353	c.499G>A	c.(499-501)Gag>Aag	p.E167K	WDR66_ENST00000397454.2_Missense_Mutation_p.E167K	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	167							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)		AATCAGTCCTGAGGAACAACA	0.453000													15	69					0	0	0.539581	0	0
LRP1B	53353	broad.mit.edu	37	2	141027818	141027818	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr2:141027818C>A	ENST00000389484.3	-	86	14211	c.13240G>T	c.(13240-13242)Gtg>Ttg	p.V4414L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4414	EGF-like 14.				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)		CACAGACACACAGGTACATTT	0.418000										TSP Lung(27;0.18)			23	61					5.45024e-15	6.61094e-15	0.654019	1	0
ALPK1	80216	broad.mit.edu	37	4	113353582	113353582	+	Missense_Mutation	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr4:113353582C>T	ENST00000458497.1	+	11	3158	c.2879C>T	c.(2878-2880)tCa>tTa	p.S960L	ALPK1_ENST00000177648.9_Missense_Mutation_p.S960L|ALPK1_ENST00000504176.2_Missense_Mutation_p.S882L	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	960	Ser-rich.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		TCTTGGGTTTCATTGCCGGGA	0.502000													7	46					0	0	0.307466	0	0
DCHS2	54798	broad.mit.edu	37	4	155237036	155237036	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr4:155237036C>A	ENST00000357232.3	-	15	3758	c.3759G>T	c.(3757-3759)caG>caT	p.Q1253H		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1253	Cadherin 10.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.Q1253Q(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CTGTCAAAGTCTGGGATGAAG	0.418000													17	27					5.35267e-07	5.86287e-07	0.557998	1	0
FAM173B	134145	broad.mit.edu	37	5	10239436	10239436	+	Missense_Mutation	SNP	G	G	C			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr5:10239436G>C	ENST00000511437.1	-	2	61	c.49C>G	c.(49-51)Cag>Gag	p.Q17E	FAM173B_ENST00000510047.1_Missense_Mutation_p.Q17E|FAM173B_ENST00000510052.1_5'UTR|FAM173B_ENST00000280330.8_5'UTR	NM_199133.3	NP_954584.2	Q6P4H8	F173B_HUMAN	family with sequence similarity 173, member B	17						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	16						TGTCTTGACTGACTTTCTTCT	0.433000													37	170					0	0	0.812448	0	0
ZC2HC1C	79696	broad.mit.edu	37	14	75537426	75537426	+	Silent	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr14:75537426G>A	ENST00000524913.1	+	2	639	c.150G>A	c.(148-150)agG>agA	p.R50R	ZC2HC1C_ENST00000526748.1_Intron|ZC2HC1C_ENST00000238686.8_Silent_p.R50R|ZC2HC1C_ENST00000439583.2_Silent_p.R50R	NM_024643.2	NP_078919.2	Q53FD0	F164C_HUMAN	zinc finger, C2HC-type containing 1C	50																	GGCACCTGAGGAACAATTTCC	0.488000													81	76					0	0	0.870114	0	0
CNGB1	1258	broad.mit.edu	37	16	58001103	58001103	+	Missense_Mutation	SNP	C	C	G			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr16:58001103C>G	ENST00000564448.1	-	2	148	c.88G>C	c.(88-90)Gag>Cag	p.E30Q	CNGB1_ENST00000311183.4_Missense_Mutation_p.E30Q|CNGB1_ENST00000251102.8_Missense_Mutation_p.E30Q			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	30	Glu-rich.				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						ATCTCTGGCTCTGGTTCCACT	0.622000													15	88					0	0	0.557998	0	0
OR2A2	442361	broad.mit.edu	37	7	143807225	143807225	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr7:143807225C>A	ENST00000408979.2	+	1	619	c.550C>A	c.(550-552)Ctc>Atc	p.L184I		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					TCTGTCTGTCCTCAAGCTGGC	0.507000													84	200					5.10314e-47	7.26643e-47	0.870114	1	0
HK2	3099	broad.mit.edu	37	2	75116483	75116483	+	Silent	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr2:75116483G>T	ENST00000290573.2	+	17	3087	c.2487G>T	c.(2485-2487)cgG>cgT	p.R829R	HK2_ENST00000409174.1_Silent_p.R801R	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	829	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						TGGCCCGGCGGGCAGCCCAGC	0.607000													21	46					3.5997e-14	4.30256e-14	0.624587	1	0
ERCC6	2074	broad.mit.edu	37	10	50740740	50740740	+	Missense_Mutation	SNP	C	C	G			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr10:50740740C>G	ENST00000355832.5	-	2	349	c.271G>C	c.(271-273)Gag>Cag	p.E91Q	ERCC6-PGBD3_ENST00000515869.1_Missense_Mutation_p.E91Q|PGBD3_ENST00000603152.1_Missense_Mutation_p.E91Q|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.E91Q	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	91					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CCCTGCAGCTCAAGGGCCTGG	0.627000								Direct reversal of damage;Nucleotide excision repair (NER)					4	133					0	0	0.150653	0	0
MCHR2	84539	broad.mit.edu	37	6	100369084	100369084	+	Missense_Mutation	SNP	A	A	G			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr6:100369084A>G	ENST00000281806.2	-	6	1069	c.755T>C	c.(754-756)aTg>aCg	p.M252T	MCHR2_ENST00000369212.1_Missense_Mutation_p.M252T|MCHR2_ENST00000445970.1_Missense_Mutation_p.M252T	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	252						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)		CACCAGCACCATCTTTGTCAA	0.448000													16	119					0	0	0.539581	0	0
SMARCD2	6603	broad.mit.edu	37	17	61914380	61914380	+	Nonsense_Mutation	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr17:61914380G>A	ENST00000448276.2	-	4	734	c.469C>T	c.(469-471)Cag>Tag	p.Q157*	SMARCD2_ENST00000225742.9_Nonsense_Mutation_p.Q82*|SMARCD2_ENST00000323347.10_Nonsense_Mutation_p.Q109*	NM_001098426.1	NP_001091896.1	Q92925	SMRD2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2	157					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						ATGTACGCCTGAGACTCTGGA	0.552000													8	72					0	0	0.335167	0	0
MYO3A	53904	broad.mit.edu	37	10	26465699	26465699	+	Missense_Mutation	SNP	C	C	G			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr10:26465699C>G	ENST00000265944.5	+	31	4529	c.4363C>G	c.(4363-4365)Ctg>Gtg	p.L1455V	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1455					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GTCACAGCAACTGAAGTCACT	0.353000													17	76					0	0	0.520397	0	0
FREM2	341640	broad.mit.edu	37	13	39438657	39438657	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr13:39438657G>A	ENST00000280481.7	+	16	8113	c.7897G>A	c.(7897-7899)Gag>Aag	p.E2633K		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2633					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)		CCTGAACCTAGAGGCCTGTTT	0.448000													51	38					0	0	0.870114	0	0
FNIP1	96459	broad.mit.edu	37	5	131008371	131008371	+	Missense_Mutation	SNP	T	T	C			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr5:131008371T>C	ENST00000307968.7	-	13	1681	c.1682A>G	c.(1681-1683)cAt>cGt	p.H561R	FNIP1_ENST00000514667.1_Intron|FNIP1_ENST00000510461.1_Missense_Mutation_p.H589R|FNIP1_ENST00000307954.8_Missense_Mutation_p.H544R	NM_001008738.2	NP_001008738.2			folliculin interacting protein 1											NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		TTTGTTTCTATGCATTGTGAC	0.373000													20	93					0	0	0.624587	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6064133	6064133	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr4:6064133C>A	ENST00000409021.3	-	10	1915	c.1466G>T	c.(1465-1467)tGc>tTc	p.C489F	JAKMIP1_ENST00000410077.2_Missense_Mutation_p.C324F|JAKMIP1_ENST00000282924.5_Missense_Mutation_p.C489F|JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000409371.3_Missense_Mutation_p.C304F|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.C489F	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	489	Mediates interaction with TYK2 and GABBR1.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GGTCAGCTGGCAGAAGCGCAG	0.547000													16	53					1.55795e-14	1.87929e-14	0.608945	1	0
USH2A	7399	broad.mit.edu	37	1	215931936	215931936	+	Splice_Site	SNP	C	C	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr1:215931936C>A	ENST00000366943.2	-	58	11776		c.e58+1		USH2A_ENST00000307340.3_Splice_Site			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)						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)		TTTTTTTTTACCTGGTGGTAT	0.299000										HNSCC(13;0.011)			51	59					5.82218e-30	7.94485e-30	0.870114	1	0
BCAN	63827	broad.mit.edu	37	1	156616868	156616868	+	Missense_Mutation	SNP	G	G	C			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr1:156616868G>C	ENST00000329117.4	+	3	703	c.367G>C	c.(367-369)Gcg>Ccg	p.A123P	BCAN_ENST00000361588.5_Missense_Mutation_p.A123P|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	123	Ig-like V-type.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CGTCTCCCTGGCGCTGAGCGA	0.657000													21	24					0	0	0.667858	0	0
PALM2	114299	broad.mit.edu	37	9	112542776	112542776	+	Missense_Mutation	SNP	A	A	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr9:112542776A>T	ENST00000448454.2	+	2	14	c.14A>T	c.(13-15)gAg>gTg	p.E5V	PALM2_ENST00000314527.4_Missense_Mutation_p.E3V|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.E3V|PALM2_ENST00000374531.2_Missense_Mutation_p.E5V|AKAP2_ENST00000555236.1_Missense_Mutation_p.E3V|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.E3V|PALM2_ENST00000483909.1_Missense_Mutation_p.E3V|AKAP2_ENST00000510514.5_Missense_Mutation_p.E3V					paralemmin 2											breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						AGGATGGCAGAGGCGGAATTG	0.542000													54	71					0	0	0.870114	0	0
ZFPM2	23414	broad.mit.edu	37	8	106813664	106813664	+	Nonsense_Mutation	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr8:106813664C>T	ENST00000407775.2	+	8	1604	c.1354C>T	c.(1354-1356)Cag>Tag	p.Q452*	ZFPM2_ENST00000517361.1_Nonsense_Mutation_p.Q320*|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000520492.1_Nonsense_Mutation_p.Q320*|ZFPM2_ENST00000378472.4_Nonsense_Mutation_p.Q183*|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	452					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TCTCACGAACCAGAGACCAGA	0.458000													6	37					0	0	0.217242	0	0
MYCT1	80177	broad.mit.edu	37	6	153043387	153043387	+	Nonstop_Mutation	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr6:153043387G>T	ENST00000367245.5	+	2	715	c.707G>T	c.(706-708)tGa>tTa	p.*236L	MYCT1_ENST00000529453.1_Intron	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN	myc target 1	0						nucleus				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		CCAGATTCCTGAGTAGGGTGG	0.453000													35	24					9.9191e-30	1.34514e-29	0.840704	1	0
LY6G5B	58496	broad.mit.edu	37	6	31639043	31639043	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr6:31639043G>T	ENST00000375864.4	+	2	953	c.169G>T	c.(169-171)Gtg>Ttg	p.V57L	CSNK2B-LY6G5B-1181_ENST00000375880.2_Missense_Mutation_p.G223V|LY6G5B_ENST00000409525.1_Missense_Mutation_p.V2L	NM_021221.2	NP_067044.2	Q8NDX9	LY65B_HUMAN	lymphocyte antigen 6 complex, locus G5B	57	UPAR/Ly6.					extracellular region				lung(4)	4						CCTGTGCATGGTGATCACCAT	0.542000													108	124					1.23489e-42	1.74699e-42	0.870114	1	0
MAP2K4	6416	broad.mit.edu	37	17	12016549	12016549	+	Splice_Site	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr17:12016549G>A	ENST00000415385.3	+	8	771		c.e8-1		MAP2K4_ENST00000353533.5_Splice_Site			P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4						cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.0?(10)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		ATGTCTTGCAGATATCAAACC	0.363000			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""								3	69					0	0	0.115264	0	0
ASTN1	460	broad.mit.edu	37	1	176853496	176853496	+	Missense_Mutation	SNP	C	C	G			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr1:176853496C>G	ENST00000367654.2	-	19	3242	c.3229G>C	c.(3229-3231)Gac>Cac	p.D1077H	ASTN1_ENST00000424564.2_Missense_Mutation_p.D1069H|ASTN1_ENST00000367657.3_Missense_Mutation_p.D1069H|ASTN1_ENST00000361833.2_Missense_Mutation_p.D1069H			O14525	ASTN1_HUMAN	astrotactin 1	1077	Fibronectin type-III 1.				cell migration|neuron cell-cell adhesion	integral to membrane				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						TTGGAGTGGTCCATCCTGTCA	0.493000													11	189					0	0	0.457914	0	0
SPATA18	132671	broad.mit.edu	37	4	52928395	52928395	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr4:52928395G>A	ENST00000295213.4	+	4	693	c.319G>A	c.(319-321)Gat>Aat	p.D107N	SPATA18_ENST00000506829.1_Intron|SPATA18_ENST00000419395.2_Missense_Mutation_p.D107N	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	107					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			GGACACGTTTGATAGGGAGAG	0.378000													15	98					0	0	0.500413	0	0
RFX4	5992	broad.mit.edu	37	12	107155217	107155217	+	Missense_Mutation	SNP	C	C	G			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr12:107155217C>G	ENST00000392842.1	+	18	2592	c.2178C>G	c.(2176-2178)aaC>aaG	p.N726K	RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000229387.5_Missense_Mutation_p.N632K|RFX4_ENST00000357881.4_Missense_Mutation_p.N735K	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	726					transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						CTTACATCAACGGAGAGGCCT	0.388000													22	29					0	0	0.693898	0	0
ZNF782	158431	broad.mit.edu	37	9	99607184	99607184	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr9:99607184G>A	ENST00000481138.1	-	4	791	c.130C>T	c.(130-132)Ctc>Ttc	p.L44F	ZNF782_ENST00000466833.1_Intron|ZNF782_ENST00000535338.1_Intron	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	44	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				ACTGAGACGAGGTGGCTGTAG	0.552000													8	79					0	0	0.278610	0	0
NRXN1	9378	broad.mit.edu	37	2	51253541	51253541	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr2:51253541C>A	ENST00000404971.1	-	3	2178	c.839G>T	c.(838-840)tGt>tTt	p.C280F	NRXN1_ENST00000406859.3_Intron|NRXN1_ENST00000402717.3_Intron|NRXN1_ENST00000406316.2_Intron|NRXN1_ENST00000405472.3_Intron|NRXN1_ENST00000405581.1_Intron|NRXN1_ENST00000401669.2_Intron	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	258					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)			ATTTATACAACAGTATTTTCC	0.378000													5	10					3.59834e-05	3.80761e-05	0.217242	1	0
ARMC7	79637	broad.mit.edu	37	17	73106670	73106670	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr17:73106670G>T	ENST00000245543.1	+	2	506	c.204G>T	c.(202-204)gaG>gaT	p.E68D	ARMC7_ENST00000584947.1_Missense_Mutation_p.E68D|ARMC7_ENST00000582136.1_Missense_Mutation_p.E68D|ARMC7_ENST00000581078.1_Intron	NM_024585.2	NP_078861.1	Q9H6L4	ARMC7_HUMAN	armadillo repeat containing 7	68							binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|pancreas(3)	9	all_lung(278;0.14)|Lung NSC(278;0.168)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)			CGCTGTCGGAGGAGAATGAGA	0.532000													66	86					7.14593e-30	9.73094e-30	0.870114	1	0
KCNC2	3747	broad.mit.edu	37	12	75601681	75601681	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr12:75601681G>T	ENST00000549446.1	-	2	763	c.83C>A	c.(82-84)aCc>aAc	p.T28N	KCNC2_ENST00000298972.1_Missense_Mutation_p.T28N|KCNC2_ENST00000550433.1_Missense_Mutation_p.T28N|KCNC2_ENST00000540018.1_Missense_Mutation_p.T28N|KCNC2_ENST00000350228.2_Missense_Mutation_p.T28N|KCNC2_ENST00000341669.3_Missense_Mutation_p.T28N|KCNC2_ENST00000393288.2_Missense_Mutation_p.T28N|KCNC2_ENST00000548513.1_Missense_Mutation_p.T28N	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	28					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						TCCAGGCAGGGTCTTGAGGGT	0.642000													27	28					2.65835e-16	3.30402e-16	0.717897	1	0
TG	7038	broad.mit.edu	37	8	133975278	133975278	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr8:133975278G>T	ENST00000220616.4	+	29	5547	c.5507G>T	c.(5506-5508)aGa>aTa	p.R1836I	TG_ENST00000377869.1_Missense_Mutation_p.R1779I|TG_ENST00000542445.1_Missense_Mutation_p.R206I	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1836					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)		ATGGGATGTAGAAAAGACACA	0.483000													8	502					0.000274275	0.000286523	0.307466	1	0
PRKAA2	5563	broad.mit.edu	37	1	57171767	57171767	+	Silent	SNP	A	A	G			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr1:57171767A>G	ENST00000371244.4	+	8	1362	c.1296A>G	c.(1294-1296)gtA>gtG	p.V432V		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	432					carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						CACTTTAGGTAGTGAATGCAT	0.313000													22	35					0	0	0.667858	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77331184	77331184	+	Splice_Site	SNP	A	A	G			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr16:77331184A>G	ENST00000282849.5	-	18	3220		c.e18+1			NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18						proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CAAATGACTTACTAAGCCGGG	0.403000													3	116					0	0	0.150653	0	0
TBXAS1	6916	broad.mit.edu	37	7	139715560	139715560	+	Missense_Mutation	SNP	G	G	C			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr7:139715560G>C	ENST00000263552.6	+	15	1805	c.1267G>C	c.(1267-1269)Ggg>Cgg	p.G423R	TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000425687.1_Missense_Mutation_p.G355R|TBXAS1_ENST00000416849.2_Missense_Mutation_p.G469R|TBXAS1_ENST00000414508.2_Missense_Mutation_p.G423R|TBXAS1_ENST00000336425.5_Missense_Mutation_p.G422R|TBXAS1_ENST00000448866.1_Missense_Mutation_p.G422R|TBXAS1_ENST00000458722.1_Missense_Mutation_p.G468R|TBXAS1_ENST00000411653.1_Missense_Mutation_p.G422R|TBXAS1_ENST00000436047.2_Missense_Mutation_p.G423R	NM_001130966.2	NP_001124438.1	P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	422					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					CGAGGTGCTGGGGCAGCGCAT	0.632000													24	122					0	0	0.639603	0	0
KIFC2	90990	broad.mit.edu	37	8	145692395	145692395	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr8:145692395G>A	ENST00000301332.2	+	3	609	c.232G>A	c.(232-234)Gcg>Acg	p.A78T		NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	78					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)			CCGCGCGGCCGCGGTGTCCCT	0.726000													5	24					0	0	0.184627	0	0
CAMK2B	816	broad.mit.edu	37	7	44260446	44260446	+	Missense_Mutation	SNP	T	T	C			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr7:44260446T>C	ENST00000395749.2	-	21	1728	c.1652A>G	c.(1651-1653)aAc>aGc	p.N551S	CAMK2B_ENST00000258682.6_Missense_Mutation_p.N402S|CAMK2B_ENST00000440254.2_Missense_Mutation_p.N427S|CAMK2B_ENST00000489429.1_5'UTR|CAMK2B_ENST00000395747.2_Missense_Mutation_p.N403S|CAMK2B_ENST00000353625.4_Missense_Mutation_p.N364S|CAMK2B_ENST00000358707.3_Missense_Mutation_p.N388S|CAMK2B_ENST00000350811.3_Missense_Mutation_p.N427S|CAMK2B_ENST00000347193.4_Missense_Mutation_p.N403S|CAMK2B_ENST00000502837.2_Missense_Mutation_p.N298S|CAMK2B_ENST00000346990.4_Missense_Mutation_p.N334S|CAMK2B_ENST00000457475.1_Missense_Mutation_p.N403S	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	551					interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						AAAGTCACCGTTGTTGACGGC	0.647000													4	11					0	0	0.248553	0	0
HSD3B1	3283	broad.mit.edu	37	1	120056650	120056650	+	Silent	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr1:120056650G>A	ENST00000235547.6	+	4	649	c.510G>A	c.(508-510)gcG>gcA	p.A170A	HSD3B1_ENST00000528909.1_Silent_p.A168A|HSD3B1_ENST00000369413.3_Silent_p.A168A	NM_000862.2	NP_000853.1	P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	168					androgen biosynthetic process|estrogen 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			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	CTGTACTGGCGGCTAACGGGT	0.507000													12	101					0	0	0.411799	0	0
AE000661.37	0	broad.mit.edu	37	14	22924282	22924282	+	RNA	SNP	C	C	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr14:22924282C>A	ENST00000514473.2	-	0	225				TRDJ4_ENST00000390474.1_RNA																							TCTGGAGGTACAACAACGTAA	0.418000													3	48					0.150653	0.151812	0.150653	1	0
CNTN3	5067	broad.mit.edu	37	3	74344381	74344381	+	Missense_Mutation	SNP	G	G	C			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr3:74344381G>C	ENST00000263665.6	-	18	2435	c.2408C>G	c.(2407-2409)aCa>aGa	p.T803R		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	803	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)		TGGGGCCACTGTAGGCTCTGT	0.358000													38	22					0	0	0.834066	0	0
THSD7B	80731	broad.mit.edu	37	2	138033516	138033516	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr2:138033516C>A	ENST00000409968.1	+	12	2598	c.2420C>A	c.(2419-2421)cCt>cAt	p.P807H	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.P776H|THSD7B_ENST00000272643.3_Missense_Mutation_p.P807H					thrombospondin, type I, domain containing 7B									p.P776H(1)|p.P807H(1)		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)		AAATGGAGCCCTTGCATCTTA	0.433000													13	36					3.52763e-06	3.80659e-06	0.520397	1	0
KRTAP11-1	337880	broad.mit.edu	37	21	32253447	32253447	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr21:32253447G>T	ENST00000332378.4	-	1	427	c.397C>A	c.(397-399)Cca>Aca	p.P133T		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	133	4 X 10 AA approximate repeats.					keratin filament	structural molecule activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						CCTCCCACTGGTTGGCAGACA	0.602000													44	29					1.02687e-29	1.38966e-29	0.864702	1	0
NLRP9	338321	broad.mit.edu	37	19	56226546	56226546	+	Silent	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr19:56226546G>A	ENST00000332836.2	-	6	2403	c.2376C>T	c.(2374-2376)tcC>tcT	p.S792S		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	792						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		AGAGGACTTCGGAAATGGAGT	0.527000													15	40					0	0	0.479597	0	0
IGSF9B	22997	broad.mit.edu	37	11	133807299	133807299	+	Silent	SNP	A	A	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr11:133807299A>T	ENST00000321016.8	-	5	881	c.651T>A	c.(649-651)gcT>gcA	p.A217A	IGSF9B_ENST00000533871.2_Silent_p.A217A			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	217	Ig-like 2.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		TCGTGTGGACAGCCTCCCCCT	0.627000													21	33					0	0	0.639603	0	0
ZNF248	57209	broad.mit.edu	37	10	38121908	38121908	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr10:38121908C>A	ENST00000395867.3	-	6	925	c.375G>T	c.(373-375)ttG>ttT	p.L125F	ZNF248_ENST00000357328.4_Missense_Mutation_p.L125F|ZNF248_ENST00000374648.3_Intron|ZNF248_ENST00000494133.1_Intron	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	125					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						GGTCTGTGCCCAAATTGAAAG	0.328000													20	74					4.26978e-12	4.98521e-12	0.654019	1	0
SLC6A10P	386757	broad.mit.edu	37	16	32890622	32890622	+	RNA	SNP	T	T	G			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr16:32890622T>G	ENST00000330048.5	-	0	3176					NR_003083.2																						CGTTGGTGTTTTTGTAGACCA	0.617000													3	76					0	0	0.278610	0	0
SWSAP1	126074	broad.mit.edu	37	19	11485577	11485577	+	Missense_Mutation	SNP	G	G	C			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr19:11485577G>C	ENST00000312423.2	+	1	217	c.158G>C	c.(157-159)gGa>gCa	p.G53A	CTD-2342J14.6_ENST00000590399.1_RNA	NM_175871.3	NP_787067.2	Q6NVH7	CS039_HUMAN	SWIM-type zinc finger 7 associated protein 1	53																	CGCGGGACCGGAACGACTCTA	0.612000													4	159					0	0	0.150653	0	0
KCNJ1	3758	broad.mit.edu	37	11	128709193	128709193	+	Missense_Mutation	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr11:128709193C>T	ENST00000392665.2	-	2	1090	c.946G>A	c.(946-948)Ggg>Agg	p.G316R	KCNJ1_ENST00000392664.2_Missense_Mutation_p.G335R|KCNJ1_ENST00000440599.2_Missense_Mutation_p.G316R|KCNJ1_ENST00000324036.3_Missense_Mutation_p.G316R|KCNJ1_ENST00000392666.1_Missense_Mutation_p.G316R	NM_153764.2	NP_722448.1	P48048	IRK1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	335					excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)	CGGTATTTCCCTTCCTTTGTC	0.498000													19	73					0	0	0.608945	0	0
COL13A1	1305	broad.mit.edu	37	10	71692333	71692333	+	Silent	SNP	C	C	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr10:71692333C>A	ENST00000356340.3	+	29	2204	c.1668C>A	c.(1666-1668)gcC>gcA	p.A556A	COL13A1_ENST00000520267.1_Intron|COL13A1_ENST00000398966.3_Silent_p.A534A|COL13A1_ENST00000398974.3_Silent_p.A544A|COL13A1_ENST00000357811.3_Silent_p.A534A|COL13A1_ENST00000520133.1_Intron|COL13A1_ENST00000398964.3_Silent_p.A527A|COL13A1_ENST00000398973.3_Silent_p.A556A|COL13A1_ENST00000517713.1_Intron|COL13A1_ENST00000398978.3_Silent_p.A556A|COL13A1_ENST00000398972.3_Silent_p.A556A|COL13A1_ENST00000398971.3_Intron|COL13A1_ENST00000354547.3_Silent_p.A534A|COL13A1_ENST00000522165.1_Silent_p.A537A|COL13A1_ENST00000398969.3_Intron|COL13A1_ENST00000398968.3_Silent_p.A537A			Q5TAT6	CODA1_HUMAN	collagen, type XIII, alpha 1	556	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	AAGGAGAAGCCGGGGAGAAGG	0.507000													4	25					0.00024832	0.000260239	0.150653	1	0
OR6K3	391114	broad.mit.edu	37	1	158687243	158687243	+	Silent	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr1:158687243G>T	ENST00000368146.1	-	1	710	c.711C>A	c.(709-711)gtC>gtA	p.V237V	OR6K3_ENST00000368145.1_Silent_p.V221V			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					ATATCACAGTGACAATTCTTA	0.448000													47	65					2.24059e-37	3.13587e-37	0.870114	1	0
NR2F1	7025	broad.mit.edu	37	5	92921039	92921039	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr5:92921039G>A	ENST00000327111.3	+	1	1997	c.310G>A	c.(310-312)Gag>Aag	p.E104K	NR2F1-AS1_ENST00000513055.1_RNA	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	104					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		ATTCACCTGCGAGGGCTGCAA	0.617000													10	22					0	0	0.335167	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													4	91					0	0	0.150653	0	0
FAT1	2195	broad.mit.edu	37	4	187521113	187521113	+	Silent	SNP	C	C	G			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr4:187521113C>G	ENST00000441802.2	-	22	12251	c.12042G>C	c.(12040-12042)acG>acC	p.T4014T		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4014	EGF-like 2.				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						CGCAGTCTTCCGTGGCCGTCA	0.537000										HNSCC(5;0.00058)			18	50					0	0	0.575678	0	0
CSF2RB	1439	broad.mit.edu	37	22	37333880	37333880	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr22:37333880C>A	ENST00000262825.5	+	14	2265	c.2048C>A	c.(2047-2049)cCt>cAt	p.P683H	CSF2RB_ENST00000406230.1_Missense_Mutation_p.P683H|CSF2RB_ENST00000536485.1_Missense_Mutation_p.P624H|CSF2RB_ENST00000403662.3_Missense_Mutation_p.P677H	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	677					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	CCTGCCCCTCCTGCTCTTGGG	0.667000													10	6					2.80697e-09	3.16995e-09	0.387290	1	0
SETD1A	9739	broad.mit.edu	37	16	30976454	30976454	+	Missense_Mutation	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr16:30976454C>T	ENST00000262519.8	+	7	2077	c.1391C>T	c.(1390-1392)tCc>tTc	p.S464F		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	464	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA 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						CGCCCAGCCTCCCCTGCCCGC	0.682000													17	28					0	0	0.557998	0	0
KALRN	8997	broad.mit.edu	37	3	124351379	124351379	+	Silent	SNP	C	C	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr3:124351379C>A	ENST00000360013.3	+	35	5416	c.5289C>A	c.(5287-5289)tcC>tcA	p.S1763S	KALRN_ENST00000393496.1_Silent_p.S136S|KALRN_ENST00000291478.4_Silent_p.S66S|KALRN_ENST00000428018.2_Silent_p.S66S	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1763					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CCAAGCGCTCCACCAACACTC	0.567000													6	62					0.0381472	0.0386787	0.278610	1	0
ADNP	23394	broad.mit.edu	37	20	49510647	49510647	+	Missense_Mutation	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr20:49510647C>T	ENST00000396029.3	-	5	1171	c.604G>A	c.(604-606)Gaa>Aaa	p.E202K	ADNP_ENST00000396032.3_Missense_Mutation_p.E202K|ADNP_ENST00000349014.3_Missense_Mutation_p.E202K|ADNP_ENST00000371602.4_Missense_Mutation_p.E202K	NM_015339.2	NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	202						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						AGTGATTTTTCTCCTGCCTTT	0.458000													19	106					0	0	0.592651	0	0
GPD2	2820	broad.mit.edu	37	2	157439371	157439371	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr2:157439371G>A	ENST00000310454.6	+	17	2497	c.2125G>A	c.(2125-2127)Gaa>Aaa	p.E709K	GPD2_ENST00000540309.1_3'UTR|GPD2_ENST00000496190.1_3'UTR|GPD2_ENST00000438166.2_Missense_Mutation_p.E709K|GPD2_ENST00000409674.1_Missense_Mutation_p.E709K|GPD2_ENST00000409125.4_Missense_Mutation_p.E482K	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	709					cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						GAAAACTGCAGAAGAGAACCT	0.438000													13	68					0	0	0.435327	0	0
FDXACB1	91893	broad.mit.edu	37	11	111745735	111745735	+	Missense_Mutation	SNP	C	C	G			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr11:111745735C>G	ENST00000260257.4	-	5	1833	c.1786G>C	c.(1786-1788)Gac>Cac	p.D596H	ALG9_ENST00000527377.1_Intron|ALG9_ENST00000524880.1_Intron|FDXACB1_ENST00000542429.1_Missense_Mutation_p.D447H	NM_138378.2	NP_612387.1	Q9BRP7	FDXA1_HUMAN	ferredoxin-fold anticodon binding domain containing 1	596	FDX-ACB.				phenylalanyl-tRNA aminoacylation|tRNA processing		ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(3)	19						AGGGCCTTGTCACAGGTCTGG	0.448000													13	63					0	0	0.435327	0	0
SAMD9	54809	broad.mit.edu	37	7	92734099	92734099	+	Missense_Mutation	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr7:92734099C>T	ENST00000379958.2	-	3	1581	c.1312G>A	c.(1312-1314)Gct>Act	p.A438T		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	438						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)			TCCAATACAGCAAACCATTTA	0.353000													12	47					0	0	0.435327	0	0
NFRKB	4798	broad.mit.edu	37	11	129758493	129758493	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr11:129758493G>T	ENST00000446488.3	-	3	436	c.333C>A	c.(331-333)ttC>ttA	p.F111L	NFRKB_ENST00000304521.5_Missense_Mutation_p.F111L|NFRKB_ENST00000524746.1_Missense_Mutation_p.F111L|NFRKB_ENST00000526940.1_Missense_Mutation_p.F111L|NFRKB_ENST00000524794.1_Missense_Mutation_p.F124L	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	111					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)		ACAAACCTCGGAAAAGCTTCT	0.463000													31	112					1.66425e-11	1.92935e-11	0.804634	1	0
GALNT13	114805	broad.mit.edu	37	2	155098653	155098653	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr2:155098653G>A	ENST00000392825.3	+	5	989	c.422G>A	c.(421-423)cGt>cAt	p.R141H	GALNT13_ENST00000409237.1_Missense_Mutation_p.R141H	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	141	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						GTGATAAATCGTTCCCCACAC	0.373000													34	114					0	0	0.827153	0	0
IL3	3562	broad.mit.edu	37	5	131396520	131396520	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr5:131396520G>A	ENST00000296870.2	+	1	299	c.121G>A	c.(121-123)Gaa>Aaa	p.E41K		NM_000588.3	NP_000579.2	P08700	IL3_HUMAN	interleukin 3 (colony-stimulating factor, multiple)	41					cell-cell signaling|immune response|nervous system development|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of survival gene product expression|positive regulation of tyrosine phosphorylation of Stat5 protein	extracellular space	cytokine activity|growth factor activity|interleukin-3 receptor binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)	10		all_cancers(142;7.42e-12)|Lung NSC(810;4.25e-07)|all_lung(232;1.93e-06)|Prostate(281;0.00741)|Breast(839;0.0544)|Lung SC(612;0.122)|Ovarian(839;0.223)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.0161)|Lung(113;0.105)	Amlexanox(DB01025)	CATGATCGATGAAATTATAAC	0.542000													23	39					0	0	0.693898	0	0
NLRP8	126205	broad.mit.edu	37	19	56487517	56487517	+	Silent	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr19:56487517G>A	ENST00000291971.3	+	8	2795	c.2724G>A	c.(2722-2724)ttG>ttA	p.L908L	NLRP8_ENST00000590542.1_Silent_p.L889L	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	908						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		AGTGTGACTTGACCTTTAATT	0.373000													42	39					0	0	0.859065	0	0
SH3BGRL3	83442	broad.mit.edu	37	1	26607302	26607302	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr1:26607302G>A	ENST00000270792.5	+	2	1075	c.95G>A	c.(94-96)cGc>cAc	p.R32H	SH3BGRL3_ENST00000319041.6_Missense_Mutation_p.R32H	NM_031286.3	NP_112576.1	Q9H299	SH3L3_HUMAN	SH3 domain binding glutamic acid-rich protein like 3	32	Glutaredoxin.				cell redox homeostasis	cytoplasm|nucleus	electron carrier activity|protein disulfide oxidoreductase activity						all_cancers(24;1.16e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.22e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00751)|READ - Rectum adenocarcinoma(331;0.0649)		GATGGGAAGCGCATCCAATAC	0.597000													16	96					0	0	0.500413	0	0
XIST	7503	broad.mit.edu	37	X	73064528	73064528	+	RNA	SNP	C	C	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chrX:73064528C>A	ENST00000429829.1	-	0	8060					NR_001564.2																						GAAACCTGGACAAATATAATC	0.478000													33	32					2.81731e-10	3.23177e-10	0.750413	1	0
SETBP1	26040	broad.mit.edu	37	18	42530538	42530538	+	Silent	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr18:42530538G>A	ENST00000282030.5	+	4	1529	c.1233G>A	c.(1231-1233)ctG>ctA	p.L411L		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	411						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)		CACCCTCTCTGGATCCAACCA	0.478000									Schinzel-Giedion syndrome				36	26					0	0	0.788014	0	0
CLIP3	25999	broad.mit.edu	37	19	36523157	36523157	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr19:36523157G>T	ENST00000360535.4	-	2	330	c.103C>A	c.(103-105)Cag>Aag	p.Q35K	AC002116.7_ENST00000586962.1_RNA|CLIP3_ENST00000593074.1_Missense_Mutation_p.Q35K	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	35					chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CGGCGCTCCTGGGTGGGGCTG	0.672000													3	11					0.00024832	0.000260239	0.150653	1	0
DSP	1832	broad.mit.edu	37	6	7580939	7580939	+	Missense_Mutation	SNP	A	A	G			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr6:7580939A>G	ENST00000379802.3	+	23	4857	c.4516A>G	c.(4516-4518)Aga>Gga	p.R1506G	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1506	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)		TGAAAACGCGAGATTACAAAG	0.433000													31	122					0	0	0.779181	0	0
FGFR1	2260	broad.mit.edu	37	8	38314887	38314887	+	Silent	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr8:38314887G>T	ENST00000447712.2	-	2	1019	c.78C>A	c.(76-78)acC>acA	p.T26T	FGFR1_ENST00000397091.5_Silent_p.T26T|FGFR1_ENST00000397103.1_Silent_p.T26T|FGFR1_ENST00000326324.6_Silent_p.T26T|FGFR1_ENST00000397113.2_Silent_p.T26T|FGFR1_ENST00000356207.5_Silent_p.T26T|FGFR1_ENST00000532791.1_Silent_p.T26T|FGFR1_ENST00000335922.5_5'UTR|FGFR1_ENST00000397108.4_Silent_p.T26T|FGFR1_ENST00000341462.5_Silent_p.T26T|FGFR1_ENST00000425967.3_Silent_p.T59T	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	26	Ig-like C2-type 1.				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|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)	GTTCAGGCAAGGTCGGGGACG	0.607000		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""						29	29					2.20474e-14	2.6546e-14	0.788014	1	0
XPR1	9213	broad.mit.edu	37	1	180853169	180853169	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr1:180853169G>T	ENST00000367590.4	+	15	2256	c.2058G>T	c.(2056-2058)ttG>ttT	p.L686F	XPR1_ENST00000367589.3_Missense_Mutation_p.L621F	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	686						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						CTAAGGTATTGATAGAAGACA	0.393000													20	96					5.45024e-15	6.61094e-15	0.654019	1	0
PAPPA	5069	broad.mit.edu	37	9	119097264	119097264	+	Silent	SNP	G	G	C			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr9:119097264G>C	ENST00000328252.3	+	13	3891	c.3522G>C	c.(3520-3522)tcG>tcC	p.S1174S	PAPPA_ENST00000534838.1_Silent_p.S212S	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1174					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						TCGCCATCTCGGGGGTGGCCC	0.617000													85	101					0	0	0.870114	0	0
RP11-1407O15.2	0	broad.mit.edu	37	17	36351940	36351940	+	Silent	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr17:36351940G>A	ENST00000312412.4	-	12	1421	c.1422C>T	c.(1420-1422)gcC>gcT	p.A474A	RP11-1407O15.2_ENST00000544906.1_Silent_p.A319A|TBC1D3_ENST00000537432.1_5'UTR																kidney(1)|lung(3)	4						GATTACCTGCGGCAGCATTCT	0.353000													4	78					0	0	0.184627	0	0
ZMPSTE24	10269	broad.mit.edu	37	1	40723960	40723960	+	Missense_Mutation	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr1:40723960C>T	ENST00000372759.3	+	1	182	c.17C>T	c.(16-18)tCg>tTg	p.S6L	ZMPSTE24_ENST00000479131.1_3'UTR	NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	6						endoplasmic reticulum membrane|Golgi membrane|integral to membrane	metal ion binding|metalloexopeptidase activity	p.S6W(1)|p.S6L(1)		endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	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;6.3e-18)			ATGTGGGCATCGCTGGACGCT	0.632000													29	75					0	0	0.717897	0	0
LIMK2	3985	broad.mit.edu	37	22	31663872	31663872	+	Silent	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr22:31663872G>A	ENST00000331728.4	+	10	1353	c.1239G>A	c.(1237-1239)ctG>ctA	p.L413L	LIMK2_ENST00000444929.2_Silent_p.L167L|LIMK2_ENST00000406516.1_Silent_p.L335L|LIMK2_ENST00000340552.4_Silent_p.L392L|LIMK2_ENST00000333611.4_Silent_p.L392L	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	413	Protein kinase.					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						GGGGCACACTGAAGGACTTTC	0.527000													13	95					0	0	0.435327	0	0
NLRP6	171389	broad.mit.edu	37	11	281643	281643	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr11:281643G>A	ENST00000534750.1	+	4	2114	c.1909G>A	c.(1909-1911)Gcc>Acc	p.A637T	NLRP6_ENST00000312165.5_Missense_Mutation_p.A637T	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	637						cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		TGTGCGCCAAGCCCTGTGCCG	0.642000													50	128					0	0	0.870114	0	0
FAHD2B	151313	broad.mit.edu	37	2	97757441	97757441	+	Translation_Start_Site	SNP	C	C	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr2:97757441C>A	ENST00000414820.1	-	3	273	c.3G>T	c.(1-3)atG>atT	p.M1I	FAHD2B_ENST00000272610.3_Start_Codon_SNP_p.M1I|FAHD2B_ENST00000468548.1_Intron|FAHD2B_ENST00000440566.2_Start_Codon_SNP_p.M1I			Q6P2I3	FAH2B_HUMAN	fumarylacetoacetate hydrolase domain containing 2B	1							hydrolase activity|metal ion binding			kidney(5)|large_intestine(2)|lung(3)|skin(2)	12						CAGACACCAGCATCAGAGCCT	0.527000													18	92					3.51602e-12	4.12722e-12	0.575678	1	0
KIF13B	23303	broad.mit.edu	37	8	28976451	28976451	+	Silent	SNP	C	C	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr8:28976451C>A	ENST00000524189.1	-	30	3632	c.3594G>T	c.(3592-3594)gcG>gcT	p.A1198A	CTD-2647L4.1_ENST00000523661.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1198					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding	p.A1198A(1)		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)		CAGTCAAGGTCGCATCCCATC	0.433000													79	71					2.33925e-33	3.21892e-33	0.870114	1	0
STAR	6770	broad.mit.edu	37	8	38005811	38005811	+	Missense_Mutation	SNP	C	C	G			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr8:38005811C>G	ENST00000276449.4	-	3	659	c.213G>C	c.(211-213)caG>caC	p.Q71H		NM_000349.2	NP_000340.2	P49675	STAR_HUMAN	steroidogenic acute regulatory protein	71	START.				C21-steroid hormone biosynthetic process	mitochondrial intermembrane space	cholesterol transporter activity			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)		READ - Rectum adenocarcinoma(644;0.188)		AGGCCAGCTCCTGGTCACTGT	0.572000													18	26					0	0	0.557998	0	0
FMR1	2332	broad.mit.edu	37	X	147011749	147011749	+	Missense_Mutation	SNP	A	A	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chrX:147011749A>T	ENST00000218200.8	+	7	845	c.616A>T	c.(616-618)Agt>Tgt	p.S206C	FMR1_ENST00000439526.2_Missense_Mutation_p.S206C|FMR1_ENST00000334557.6_Missense_Mutation_p.S206C|FMR1_ENST00000370471.3_Missense_Mutation_p.S206C|FMR1_ENST00000370477.1_Missense_Mutation_p.S206C|FMR1_ENST00000370475.4_Missense_Mutation_p.S206C|FMR1_ENST00000370470.1_Missense_Mutation_p.S206C|FMR1_ENST00000440235.2_5'UTR	NM_001185076.1|NM_001185082.1	NP_001172005.1|NP_001172011.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	206					mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					TGAAGAAGCTAGTAAGCAGCT	0.438000									Fragile X syndrome				44	50					0	0	0.870114	0	0
OR1C1	26188	broad.mit.edu	37	1	247921309	247921309	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr1:247921309C>A	ENST00000408896.2	-	1	673	c.400G>T	c.(400-402)Gcc>Tcc	p.A134S		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TTCATTCTGGCGGTGTAATGT	0.493000													36	36					2.95478e-19	3.75802e-19	0.840704	1	0
DOPEY2	9980	broad.mit.edu	37	21	37618238	37618238	+	Silent	SNP	G	G	C			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr21:37618238G>C	ENST00000399151.3	+	19	4045	c.3960G>C	c.(3958-3960)ctG>ctC	p.L1320L		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1320					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						ACCTCTGCCTGAGCTTCCTGC	0.572000													57	151					0	0	0.870114	0	0
ZBTB39	9880	broad.mit.edu	37	12	57396578	57396578	+	Missense_Mutation	SNP	C	C	G			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr12:57396578C>G	ENST00000300101.2	-	2	2209	c.2124G>C	c.(2122-2124)aaG>aaC	p.K708N		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	708					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						TGTCCGGGTTCTTATCCGCCT	0.557000													34	90					0	0	0.788014	0	0
FHDC1	85462	broad.mit.edu	37	4	153897015	153897015	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr4:153897015G>T	ENST00000511601.1	+	12	2760	c.2572G>T	c.(2572-2574)Gat>Tat	p.D858Y	FHDC1_ENST00000260008.3_Missense_Mutation_p.D858Y			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	858					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					CAAAAGGAAAGATGTTGTAGC	0.657000													19	138					1.50039e-11	1.74247e-11	0.608945	1	0
HERC2	8924	broad.mit.edu	37	15	28465776	28465776	+	Silent	SNP	T	T	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr15:28465776T>A	ENST00000261609.7	-	37	5775	c.5667A>T	c.(5665-5667)ccA>ccT	p.P1889P		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	1889	MIB/HERC2.				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)		GGCCTAGGCCTGGAGGAGGCC	0.572000													37	137					0	0	0.834066	0	0
XIRP1	165904	broad.mit.edu	37	3	39229640	39229640	+	Missense_Mutation	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr3:39229640C>T	ENST00000340369.3	-	2	1525	c.1297G>A	c.(1297-1299)Gag>Aag	p.E433K	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.E433K	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	433							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CCCTTTAGCTCATCCCTCTGG	0.567000													128	215					0	0	0.870114	0	0
C11orf87	399947	broad.mit.edu	37	11	109294862	109294862	+	Missense_Mutation	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr11:109294862C>T	ENST00000327419.6	+	2	906	c.503C>T	c.(502-504)cCg>cTg	p.P168L	RP11-708B6.2_ENST00000532992.1_RNA|RP11-708B6.2_ENST00000532929.1_RNA	NM_207645.3	NP_997528.2	Q6NUJ2	CK087_HUMAN	chromosome 11 open reading frame 87	168						integral to membrane		p.P168L(1)		breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						CCGCCTCCACCGCCAGCCTCC	0.652000													24	51					0	0	0.693898	0	0
NUF2	83540	broad.mit.edu	37	1	163317551	163317551	+	Splice_Site	SNP	A	A	G			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr1:163317551A>G	ENST00000271452.3	+	12	1227		c.e12-1		NUF2_ENST00000524800.1_Splice_Site|NUF2_ENST00000367900.3_Splice_Site	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component						cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					TATAAAATACAGAGCCTGAAC	0.294000													22	77					0	0	0.681144	0	0
LRIG1	26018	broad.mit.edu	37	3	66434530	66434530	+	Silent	SNP	C	C	T	rs141524760	byFrequency	TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr3:66434530C>T	ENST00000273261.3	-	14	2480	c.1956G>A	c.(1954-1956)ccG>ccA	p.P652P	LRIG1_ENST00000496559.2_5'UTR|SLC25A26_ENST00000536651.1_Intron|LRIG1_ENST00000383703.3_Intron	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	652	Ig-like C2-type 2.					integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		CGTCGTCATCCGGCATGACAT	0.527000													3	93					0	0	0.115264	0	0
ADCY1	107	broad.mit.edu	37	7	45650019	45650019	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr7:45650019G>T	ENST00000297323.7	+	3	853	c.831G>T	c.(829-831)atG>atT	p.M277I	ADCY1_ENST00000432715.1_Missense_Mutation_p.M52I	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	277					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)	ACGTTGCCATGGAGATGAAGG	0.602000													50	192					1.08141e-31	1.47875e-31	0.870114	1	0
CXorf48	54967	broad.mit.edu	37	X	134305009	134305009	+	Silent	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chrX:134305009G>A	ENST00000344129.2	-	1	313	c.87C>T	c.(85-87)ctC>ctT	p.L29L	CXorf48_ENST00000276241.6_Silent_p.L29L	NM_017863.2	NP_060333.1	Q8WUE5	CX048_HUMAN	chromosome X open reading frame 48	29										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5	Acute lymphoblastic leukemia(192;0.000127)					TACCTTGTGGGAGGCCCTGCT	0.612000													15	53					0	0	0.479597	0	0
HIST1H4D	8360	broad.mit.edu	37	6	26189100	26189100	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr6:26189100C>A	ENST00000340756.2	-	1	204	c.205G>T	c.(205-207)Gat>Tat	p.D69Y		NM_003539.3	NP_003530.1	P62805	H4_HUMAN	histone cluster 1, H4d	69					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)	8		all_hematologic(11;0.196)				GTGACAGCATCGCGGATTACA	0.577000													13	101					0.00136819	0.00141575	0.411799	1	0
ZNF521	25925	broad.mit.edu	37	18	22805488	22805488	+	Silent	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr18:22805488C>T	ENST00000361524.3	-	4	2542	c.2394G>A	c.(2392-2394)ctG>ctA	p.L798L	ZNF521_ENST00000584787.1_Silent_p.L578L|ZNF521_ENST00000538137.2_Silent_p.L798L	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	798					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TGTGGCATTGCAGCTCCACCT	0.463000			T	PAX5	ALL								27	147					0	0	0.706142	0	0
ARID1A	8289	broad.mit.edu	37	1	27087346	27087346	+	Splice_Site	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr1:27087346G>A	ENST00000324856.7	+	5	2291		c.e5-1		ARID1A_ENST00000457599.2_Splice_Site|ARID1A_ENST00000374152.2_Splice_Site	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)						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	nBAF complex|npBAF complex|SWI/SNF 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)		ATATGTTCTAGGATCTATCTG	0.413000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								18	60					0	0	0.575678	0	0
OR52M1	119772	broad.mit.edu	37	11	4566869	4566869	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr11:4566869C>A	ENST00000360213.1	+	1	449	c.449C>A	c.(448-450)tCt>tAt	p.S150Y		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGGCTTGTTTCTCTCCTCCGG	0.527000													17	34					2.94398e-08	3.26832e-08	0.557998	1	0
KRTAP4-2	85291	broad.mit.edu	37	17	39334307	39334307	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr17:39334307C>A	ENST00000377726.2	-	1	153	c.110G>T	c.(109-111)cGc>cTc	p.R37L		NM_033062.3	NP_149051.1	Q9BYR5	KRA42_HUMAN	keratin associated protein 4-2	37	20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ].					keratin filament				kidney(2)|lung(4)|upper_aerodigestive_tract(1)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GCAGCTGGGGCGGCAGCAGGT	0.657000													38	214					2.35958e-20	3.03045e-20	0.847076	1	0
DMBT1	1755	broad.mit.edu	37	10	124399868	124399868	+	Missense_Mutation	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr10:124399868C>T	ENST00000338354.3	+	52	6974	c.6868C>T	c.(6868-6870)Cat>Tat	p.H2290Y	DMBT1_ENST00000344338.3_Missense_Mutation_p.H2280Y|DMBT1_ENST00000359586.6_Missense_Mutation_p.H1010Y|DMBT1_ENST00000368956.2_Missense_Mutation_p.H1662Y|DMBT1_ENST00000368909.3_Missense_Mutation_p.H2290Y|DMBT1_ENST00000330163.4_Missense_Mutation_p.H1662Y|DMBT1_ENST00000368955.3_Missense_Mutation_p.H2280Y			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2290	ZP.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	p.H2290N(4)|p.H2419N(2)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGAAATCCTCCATTCTGATGC	0.468000													13	57					0	0	0.479597	0	0
SEC14L5	9717	broad.mit.edu	37	16	5057443	5057443	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr16:5057443G>A	ENST00000251170.7	+	13	1708	c.1528G>A	c.(1528-1530)Gag>Aag	p.E510K		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	510	GOLD.					integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						GCAGTGGAGTGAGACCTACCA	0.642000													20	57					0	0	0.557998	0	0
OR2T4	127074	broad.mit.edu	37	1	248525460	248525460	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr1:248525460C>A	ENST00000366475.1	+	1	578	c.578C>A	c.(577-579)cCc>cAc	p.P193H		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	193					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)			ACATTCACTCCCATCACCATG	0.522000													129	148					1.84561e-53	2.65104e-53	0.870114	1	0
GALNT13	114805	broad.mit.edu	37	2	155099275	155099275	+	Missense_Mutation	SNP	G	G	C			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr2:155099275G>C	ENST00000392825.3	+	6	1110	c.543G>C	c.(541-543)agG>agC	p.R181S	GALNT13_ENST00000409237.1_Missense_Mutation_p.R181S	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	181	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.R181S(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						AAATTATTAGGATGGAAGAAC	0.363000													11	39					0	0	0.387290	0	0
PCNXL2	80003	broad.mit.edu	37	1	233136125	233136125	+	Missense_Mutation	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr1:233136125C>T	ENST00000258229.8	-	30	5488	c.5254G>A	c.(5254-5256)Gtg>Atg	p.V1752M	PCNXL2_ENST00000344698.2_Missense_Mutation_p.V404M	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1752						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TCGTCCACCACGTGCCGCAGG	0.612000													5	171					0	0	0.217242	0	0
GPR179	440435	broad.mit.edu	37	17	36483818	36483818	+	Silent	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr17:36483818G>A	ENST00000342292.4	-	11	5654	c.5634C>T	c.(5632-5634)aaC>aaT	p.N1878N	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1878						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TCAAGTCCTTGTTCTCCCAAA	0.493000													5	227					0	0	0.217242	0	0
PXDN	7837	broad.mit.edu	37	2	1652879	1652879	+	Silent	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr2:1652879C>T	ENST00000252804.4	-	17	2723	c.2673G>A	c.(2671-2673)tcG>tcA	p.S891S		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	891					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)		TCATGAGCAGCGAAGTCATGC	0.632000													12	40					0	0	0.479597	0	0
C16orf82	162083	broad.mit.edu	37	16	27078153	27078153	+	RNA	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr16:27078153G>T	ENST00000505035.1	+	0	126							Q7Z2V1	TNT_HUMAN																			GGACAGCATTGTTCTCCCTCC	0.592000													11	38					9.05144e-12	1.05305e-11	0.435327	1	0
SLC17A8	246213	broad.mit.edu	37	12	100796155	100796155	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr12:100796155G>T	ENST00000323346.5	+	7	1114	c.801G>T	c.(799-801)ttG>ttT	p.L267F	SLC17A8_ENST00000392989.3_Missense_Mutation_p.L267F	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	267					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						TTTGGCTGTTGCAGGCCTATG	0.423000													3	42					0.00909568	0.00933804	0.150653	1	0
NLRP14	338323	broad.mit.edu	37	11	7092427	7092427	+	Missense_Mutation	SNP	A	A	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr11:7092427A>T	ENST00000299481.4	+	12	3516	c.3170A>T	c.(3169-3171)gAg>gTg	p.E1057V		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	1057					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GCATTTGATGAGGAAGCCCAG	0.423000													22	29					0	0	0.624587	0	0
AASDH	132949	broad.mit.edu	37	4	57204688	57204688	+	Silent	SNP	A	A	G			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr4:57204688A>G	ENST00000205214.6	-	15	3357	c.3177T>C	c.(3175-3177)agT>agC	p.S1059S	AASDH_ENST00000451613.1_3'UTR|AASDH_ENST00000513376.1_Silent_p.S959S|AASDH_ENST00000434343.2_Silent_p.S574S	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	1059					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				GTTCATAAACACTTTGCAATT	0.403000													12	50					0	0	0.411799	0	0
TSC1	7248	broad.mit.edu	37	9	135785997	135785997	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr9:135785997G>T	ENST00000298552.3	-	12	1445	c.1224C>A	c.(1222-1224)caC>caA	p.H408Q	TSC1_ENST00000545250.1_Missense_Mutation_p.H357Q|TSC1_ENST00000440111.2_Missense_Mutation_p.H408Q	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	408					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	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)		GGAGTGAAATGTGCACGTAGT	0.582000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				57	216					1.02487e-32	1.40732e-32	0.870114	1	0
THSD7A	221981	broad.mit.edu	37	7	11485816	11485816	+	Missense_Mutation	SNP	A	A	C			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr7:11485816A>C	ENST00000423059.3	-	13	3187	c.2936T>G	c.(2935-2937)gTg>gGg	p.V979G	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	979	TSP type-1 10.					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)		CAACACTTCCACTTTTCCCTC	0.438000										HNSCC(18;0.044)			60	166					0	0	0.870114	0	0
ZNF280A	129025	broad.mit.edu	37	22	22869399	22869399	+	Nonsense_Mutation	SNP	C	C	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr22:22869399C>A	ENST00000302097.3	-	2	808	c.556G>T	c.(556-558)Gga>Tga	p.G186*		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	186					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		CCTGGGATTCCATCCCTGAGT	0.453000													14	116					7.93312e-07	8.60297e-07	0.457914	1	0
MUC5AC	4586	broad.mit.edu	37	11	1157924	1157924	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr11:1157924C>A	ENST00000356191.2	+	13	982	c.982C>A	c.(982-984)Cct>Act	p.P328T						mucin 5AC, oligomeric mucus/gel-forming											NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		CTGGCGGGGCCCTGACTTCTG	0.687000													13	58					7.93312e-07	8.60297e-07	0.457914	1	0
GAB1	2549	broad.mit.edu	37	4	144387343	144387343	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr4:144387343G>T	ENST00000262995.4	+	10	2408	c.1981G>T	c.(1981-1983)Gac>Tac	p.D661Y	GAB1_ENST00000262994.4_Missense_Mutation_p.D631Y|GAB1_ENST00000505913.1_Missense_Mutation_p.D528Y	NM_207123.2	NP_997006.1	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	631					cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					CTTAGATCTCGACTTAGATTC	0.418000													22	55					2.12542e-12	2.50837e-12	0.706142	1	0
SCN4A	6329	broad.mit.edu	37	17	62050153	62050153	+	Missense_Mutation	SNP	A	A	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr17:62050153A>T	ENST00000435607.1	-	1	125	c.49T>A	c.(49-51)Ttg>Atg	p.L17M	SCN4A_ENST00000578147.1_Missense_Mutation_p.L17M	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	17					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	AAGGGGCGCAAGCACTCAGGG	0.652000													5	41					0	0	0.278610	0	0
USP2	9099	broad.mit.edu	37	11	119230296	119230296	+	Silent	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr11:119230296G>A	ENST00000260187.2	-	4	1194	c.900C>T	c.(898-900)taC>taT	p.Y300Y	USP2_ENST00000525735.1_Silent_p.Y91Y|USP2_ENST00000455332.2_Silent_p.Y57Y	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	300					cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		GGTCCCGCATGTAGAGCCTCT	0.577000													23	81					0	0	0.639603	0	0
FREM2	341640	broad.mit.edu	37	13	39263980	39263980	+	Silent	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr13:39263980C>T	ENST00000280481.7	+	1	2715	c.2499C>T	c.(2497-2499)ctC>ctT	p.L833L		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	833					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)		CTGAGATCCTCAACACCGGCT	0.517000													20	68					0	0	0.681144	0	0
MLLT3	4300	broad.mit.edu	37	9	20414379	20414379	+	Silent	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr9:20414379G>A	ENST00000380338.4	-	5	751	c.465C>T	c.(463-465)agC>agT	p.S155S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S152S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	155	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S155S(4)		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)		tgctgctactgctgctgctgc	0.532000			T	MLL	ALL								3	38					0	0	0.115264	0	0
PCDHA6	56142	broad.mit.edu	37	5	140208358	140208358	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr5:140208358C>A	ENST00000529310.1	+	1	796	c.682C>A	c.(682-684)Ctg>Atg	p.L228M	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.L228M|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACTGTTCAGCTGCTGGTCAC	0.458000													17	70					4.35082e-09	4.89654e-09	0.592651	1	0
LELP1	149018	broad.mit.edu	37	1	153177254	153177254	+	Missense_Mutation	SNP	A	A	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr1:153177254A>T	ENST00000368747.1	+	2	181	c.71A>T	c.(70-72)gAa>gTa	p.E24V		NM_001010857.1	NP_001010857.1	Q5T871	LELP1_HUMAN	late cornified envelope-like proline-rich 1	24	Cys/Pro-rich.									NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1)	19	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCCAAGTGTGAACAAAAGTGT	0.463000													42	213					0	0	0.864702	0	0
MUC16	94025	broad.mit.edu	37	19	9047702	9047702	+	Missense_Mutation	SNP	G	G	C			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr19:9047702G>C	ENST00000397910.4	-	5	34132	c.33929C>G	c.(33928-33930)aCt>aGt	p.T11310S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11312	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						AGGTGAAATAGTTGTTGAAAT	0.488000													3	45					0	0	0.115264	0	0
GPR55	9290	broad.mit.edu	37	2	231774763	231774763	+	Silent	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr2:231774763G>A	ENST00000392040.1	-	2	1107	c.915C>T	c.(913-915)tcC>tcT	p.S305S	GPR55_ENST00000392039.2_Silent_p.S305S|AC012507.4_ENST00000454890.1_RNA	NM_005683.3	NP_005674.2	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	305					activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity			endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		GCTGGACCCTGGAAGGCCGGT	0.547000													29	95					0	0	0.729181	0	0
CDH20	28316	broad.mit.edu	37	18	59217334	59217334	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr18:59217334C>A	ENST00000262717.4	+	11	2170	c.1772C>A	c.(1771-1773)aCc>aAc	p.T591N	CDH20_ENST00000538374.1_Missense_Mutation_p.T591N|CDH20_ENST00000536675.2_Missense_Mutation_p.T591N			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	591	Cadherin 5.				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)				GGCACACTGACCATCCAAGTG	0.607000													28	18					4.59853e-10	5.24745e-10	0.693898	1	0
LILRA4	23547	broad.mit.edu	37	19	54848795	54848795	+	Silent	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr19:54848795G>A	ENST00000291759.4	-	5	884	c.828C>T	c.(826-828)tcC>tcT	p.S276S		NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	276	Ig-like C2-type 3.					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)		AGTTGGCCTGGGAGAGCCCAG	0.662000													17	22					0	0	0.539581	0	0
KIAA1024	23251	broad.mit.edu	37	15	79749740	79749740	+	Silent	SNP	A	A	G			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr15:79749740A>G	ENST00000305428.3	+	2	1326	c.1251A>G	c.(1249-1251)ccA>ccG	p.P417P		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	417						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						ACCTTGTGCCAAAGGATCAAC	0.488000													64	35					0	0	0.870114	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76532467	76532467	+	Silent	SNP	C	C	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr16:76532467C>A	ENST00000307431.8	+	16	2623	c.2238C>A	c.(2236-2238)acC>acA	p.T746T	CNTNAP4_ENST00000377504.4_Silent_p.T698T|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Silent_p.T674T|CNTNAP4_ENST00000476707.1_Silent_p.T750T	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	747	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TTTTTAGGACCAATGACACTG	0.358000													11	37					7.93312e-07	8.60297e-07	0.457914	1	0
FLNC	2318	broad.mit.edu	37	7	128477508	128477508	+	Silent	SNP	C	C	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr7:128477508C>A	ENST00000325888.8	+	4	1017	c.756C>A	c.(754-756)acC>acA	p.T252T	FLNC_ENST00000346177.6_Silent_p.T252T	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	252	Actin-binding.|CH 2.				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						CTGTTATGACCTACCTGTCCC	0.552000													30	190					6.04164e-23	7.83619e-23	0.750413	1	0
SNHG14	104472715	broad.mit.edu	37	15	25463664	25463664	+	RNA	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr15:25463664G>A	ENST00000424208.1	+	0	2947				SNHG14_ENST00000453082.2_RNA	NR_003305.1																						GTGCGCTGAAGCTCCAGCCCT	0.592000													9	57					0	0	0.307466	0	0
BRINP3	339479	broad.mit.edu	37	1	190067632	190067632	+	Missense_Mutation	SNP	T	T	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr1:190067632T>A	ENST00000367462.3	-	8	2048	c.1817A>T	c.(1816-1818)cAg>cTg	p.Q606L	FAM5C_ENST00000534846.1_Missense_Mutation_p.Q504L|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		606						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)					GTTATAACACTGCAGGGGTAG	0.473000													31	722					0	0	0.779181	0	0
RAB40B	10966	broad.mit.edu	37	17	80616388	80616388	+	Missense_Mutation	SNP	G	G	A	rs149210378		TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr17:80616388G>A	ENST00000571995.1	-	5	675	c.544C>T	c.(544-546)Cgg>Tgg	p.R182W	RAB40B_ENST00000269347.6_Missense_Mutation_p.R3W|RAB40B_ENST00000538809.2_Silent_p.T131T	NM_006822.2	NP_006813.1	Q12829	RB40B_HUMAN	RAB40B, member RAS oncogene family	182	SOCS box.				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(2)	10	Breast(20;0.00132)|all_neural(118;0.0952)	all_cancers(8;0.072)|all_epithelial(8;0.139)	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			CGCCAGAGCCGGTCCATCCCA	0.642000													98	94					0	0	0.870114	0	0
RHD	6007	broad.mit.edu	37	1	25617229	25617229	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr1:25617229G>A	ENST00000328664.4	+	3	588	c.433G>A	c.(433-435)Gtg>Atg	p.V145M	RHD_ENST00000568195.1_Missense_Mutation_p.V145M|RHD_ENST00000454452.2_Missense_Mutation_p.V145M|RHD_ENST00000357542.4_Missense_Mutation_p.V145M|RHD_ENST00000423253.1_3'UTR|RHD_ENST00000423810.2_Missense_Mutation_p.V145M|RHD_ENST00000342055.5_Missense_Mutation_p.V145M|RHD_ENST00000417538.2_Missense_Mutation_p.V145M	NM_016124.3	NP_057208.2	Q02161	RHD_HUMAN	Rh blood group, D antigen	145						integral to plasma membrane				breast(2)|large_intestine(4)|lung(7)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GATGGTGCTGGTGGAGGTGAC	0.537000													51	112					0	0	0.870114	0	0
MFSD9	84804	broad.mit.edu	37	2	103335116	103335116	+	Silent	SNP	C	C	A	rs149539151	byFrequency	TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr2:103335116C>A	ENST00000258436.5	-	6	1231	c.1188G>T	c.(1186-1188)acG>acT	p.T396T		NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	396					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						GCTGGAGGTCCGTGATGCACG	0.642000													12	34					2.23348e-06	2.41408e-06	0.500413	1	0
SLA	6503	broad.mit.edu	37	8	134072348	134072348	+	Missense_Mutation	SNP	C	C	G			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr8:134072348C>G	ENST00000338087.5	-	3	877	c.58G>C	c.(58-60)Gag>Cag	p.E20Q	SLA_ENST00000395352.3_Missense_Mutation_p.E37Q|TG_ENST00000220616.4_Intron|SLA_ENST00000524345.1_Intron|SLA_ENST00000518565.1_5'UTR|TG_ENST00000519543.1_Intron|TG_ENST00000377869.1_Intron|SLA_ENST00000517648.1_Missense_Mutation_p.E37Q|SLA_ENST00000427060.2_Missense_Mutation_p.E60Q|TG_ENST00000542445.1_Intron	NM_001045556.2	NP_001039021.1	Q13239	SLAP1_HUMAN	Src-like-adaptor	20						endosome	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			GACTTACCCTCCGGGTTGGGC	0.572000													5	324					0	0	0.278610	0	0
ZNF275	10838	broad.mit.edu	37	X	152612793	152612793	+	Missense_Mutation	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chrX:152612793C>T	ENST00000421401.3	+	4	827	c.650C>T	c.(649-651)tCg>tTg	p.S217L	ZNF275_ENST00000440091.1_Missense_Mutation_p.S247L|ZNF275_ENST00000370249.2_Missense_Mutation_p.S164L|ZNF275_ENST00000370251.2_Missense_Mutation_p.S217L	NM_001080485.3	NP_001073954.3	A6NFS0	A6NFS0_HUMAN	zinc finger protein 275	217						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)					TGCGGGCGGTCGTTCAAAGTC	0.542000													10	168					0	0	0.387290	0	0
TGFBR3	7049	broad.mit.edu	37	1	92185023	92185023	+	Splice_Site	SNP	T	T	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr1:92185023T>A	ENST00000212355.4	-	10	1879		c.e10-2		TGFBR3_ENST00000370399.2_Splice_Site|TGFBR3_ENST00000525962.1_Splice_Site	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III						BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		GCCACTGGCCTAAAACAACAA	0.502000													13	115					0	0	0.539581	0	0
CHD6	84181	broad.mit.edu	37	20	40117113	40117113	+	Missense_Mutation	SNP	C	C	G			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr20:40117113C>G	ENST00000373233.3	-	13	1989	c.1812G>C	c.(1810-1812)aaG>aaC	p.K604N	CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	604	Helicase ATP-binding.				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				AGTTCCTATTCTTCAGTCTGT	0.443000													30	82					0	0	0.804634	0	0
KLHL40	131377	broad.mit.edu	37	3	42730389	42730389	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr3:42730389G>A	ENST00000287777.4	+	4	1550	c.1450G>A	c.(1450-1452)Gac>Aac	p.D484N		NM_152393.2	NP_689606.2			kelch-like family member 40																		GTGCGTCTATGACCCCAAGAA	0.612000													14	101					0	0	0.500413	0	0
OAS3	4940	broad.mit.edu	37	12	113407457	113407457	+	Missense_Mutation	SNP	A	A	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr12:113407457A>T	ENST00000228928.7	+	15	3328	c.3149A>T	c.(3148-3150)cAc>cTc	p.H1050L	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	1050	OAS domain 3.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						AACCTGGGCCACAATGCCCGC	0.612000													8	4					0	0	0.307466	0	0
SLC44A1	23446	broad.mit.edu	37	9	108127001	108127001	+	Splice_Site	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr9:108127001G>T	ENST00000374720.3	+	10	1500	c.1253_splice	c.e10+1	p.R418_splice	SLC44A1_ENST00000374723.1_Splice_Site_p.R418_splice|SLC44A1_ENST00000374724.1_Splice_Site_p.R418_splice|SLC44A1_ENST00000343170.7_Splice_Site_p.R210_splice	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	418						integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	TATTTTACTAGGTAAGAATAT	0.463000													10	81					0.000151284	0.000159311	0.435327	1	0
IL6	3569	broad.mit.edu	37	7	22768383	22768383	+	Missense_Mutation	SNP	G	G	C			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr7:22768383G>C	ENST00000404625.1	+	4	741	c.282G>C	c.(280-282)aaG>aaC	p.K94N	IL6_ENST00000258743.5_Missense_Mutation_p.K94N|IL6_ENST00000401630.3_Missense_Mutation_p.K71N|IL6_ENST00000420258.2_Missense_Mutation_p.K148N|IL6_ENST00000401651.1_Missense_Mutation_p.K18N|IL6_ENST00000406575.1_Missense_Mutation_p.K94N|IL6_ENST00000407492.1_Missense_Mutation_p.K18N			P05231	IL6_HUMAN	interleukin 6 (interferon, beta 2)	94					acute-phase response|cellular response to hydrogen peroxide|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|defense response to virus|endocrine pancreas development|glucagon secretion|hepatic immune response|interleukin-6-mediated signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of chemokine biosynthetic process|negative regulation of collagen biosynthetic process|negative regulation of fat cell differentiation|negative regulation of lipid storage|neuron projection development|neutrophil apoptosis|platelet activation|positive regulation of acute inflammatory response|positive regulation of anti-apoptosis|positive regulation of B cell activation|positive regulation of chemokine production|positive regulation of immunoglobulin secretion|positive regulation of interleukin-6 production|positive regulation of osteoblast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of smooth muscle cell proliferation|positive regulation of T cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of translation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of vascular endothelial growth factor production|response to glucocorticoid stimulus|response to peptidoglycan	extracellular space|interleukin-6 receptor complex	cytokine activity|growth factor activity|interleukin-6 receptor binding			breast(1)|endometrium(2)|large_intestine(4)|lung(1)	8					Arsenic trioxide(DB01169)|Bicalutamide(DB01128)|Ginseng(DB01404)|Simvastatin(DB00641)	ACCTTCCAAAGATGGCTGAAA	0.423000													32	82					0	0	0.812448	0	0
RGPD3	653489	broad.mit.edu	37	2	107049662	107049662	+	Missense_Mutation	SNP	G	G	C			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr2:107049662G>C	ENST00000409886.3	-	16	2372	c.2285C>G	c.(2284-2286)cCt>cGt	p.P762R	RGPD3_ENST00000304514.7_Missense_Mutation_p.P762R	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	762					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTTATAGAGAGGACCTCCTTC	0.368000													27	385					0	0	0.693898	0	0
TMPRSS11E	28983	broad.mit.edu	37	4	69342086	69342086	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr4:69342086G>A	ENST00000305363.4	+	7	701	c.637G>A	c.(637-639)Ggg>Agg	p.G213R		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	213	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						GCAGTGGGATGGGAGTCATCG	0.488000													40	99					0	0	0.827153	0	0
DYRK1A	1859	broad.mit.edu	37	21	38884563	38884563	+	Missense_Mutation	SNP	A	A	G			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr21:38884563A>G	ENST00000339659.3	+	11	3464	c.1994A>G	c.(1993-1995)aAc>aGc	p.N665S	DYRK1A_ENST00000338785.3_3'UTR|DYRK1A_ENST00000455387.2_Missense_Mutation_p.N446S|DYRK1A_ENST00000398960.2_Missense_Mutation_p.N674S	NM_130436.2	NP_569120.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	674	Poly-Ser.|Ser/Thr-rich.				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			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						TCTACTGGTAACCAAGGCAAT	0.493000													4	140					0	0	0.150653	0	0
KIAA1614	57710	broad.mit.edu	37	1	180913640	180913640	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr1:180913640G>A	ENST00000367588.4	+	8	3330	c.3275G>A	c.(3274-3276)aGt>aAt	p.S1092N	KIAA1614_ENST00000367587.1_Missense_Mutation_p.S713N|KIAA1614_ENST00000461346.1_3'UTR|RP11-46A10.5_ENST00000358073.2_RNA	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	1092										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GGGGACCACAGTGCAGCTGGC	0.567000													19	68					0	0	0.624587	0	0
PCSK2	5126	broad.mit.edu	37	20	17208121	17208121	+	Silent	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr20:17208121C>T	ENST00000262545.2	+	1	486	c.171C>T	c.(169-171)gtC>gtT	p.V57V	PCSK2_ENST00000377899.1_Silent_p.V38V|PCSK2_ENST00000536609.1_Silent_p.V57V	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	57					enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GCTTTGGAGTCCGAAAGGTAA	0.522000													16	21					0	0	0.500413	0	0
COL4A1	1282	broad.mit.edu	37	13	110826340	110826340	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr13:110826340G>A	ENST00000375820.4	-	40	3533	c.3412C>T	c.(3412-3414)Cct>Tct	p.P1138S		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1138	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)			GGAGTCCCAGGAAGACCTCAA	0.567000													11	40					0	0	0.387290	0	0
OR51B4	79339	broad.mit.edu	37	11	5323154	5323154	+	Missense_Mutation	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr11:5323154C>T	ENST00000380224.1	-	1	72	c.23G>A	c.(22-24)gGc>gAc	p.G8D	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAAGAAGGGGCCAGCACTGTT	0.453000											OREG0003718	type=REGULATORY REGION|Gene=OR51B4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	23	64					0	0	0.693898	0	0
OR52E8	390079	broad.mit.edu	37	11	5878886	5878886	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr11:5878886G>A	ENST00000537935.1	-	1	78	c.47C>T	c.(46-48)tCt>tTt	p.S16F	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAGGAATGAAGAAGGATGGAA	0.433000													56	73					0	0	0.870114	0	0
TRPM6	140803	broad.mit.edu	37	9	77354666	77354666	+	Silent	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr9:77354666C>T	ENST00000451710.3	-	33	5709	c.5472G>A	c.(5470-5472)gaG>gaA	p.E1824E	TRPM6_ENST00000449912.2_Silent_p.E1815E|TRPM6_ENST00000376864.4_Silent_p.E1824E|TRPM6_ENST00000376871.3_Silent_p.E657E|TRPM6_ENST00000376872.3_Silent_p.E775E|TRPM6_ENST00000361255.3_Silent_p.E1815E|TRPM6_ENST00000360774.1_Silent_p.E1820E			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1820	Alpha-type protein kinase.				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						GCACAGTGCTCTCCTGGAAGA	0.473000													20	232					0	0	0.667858	0	0
CEACAM6	4680	broad.mit.edu	37	19	42266103	42266103	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr19:42266103G>T	ENST00000199764.6	+	4	1148	c.930G>T	c.(928-930)agG>agT	p.R310S	AC011513.4_ENST00000601409.1_RNA	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	310	Ig-like C2-type 2.				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane				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)		GCCTCAATAGGACCACAGTCA	0.483000													23	150					5.45024e-15	6.61094e-15	0.654019	1	0
ALDH6A1	4329	broad.mit.edu	37	14	74531615	74531615	+	Silent	SNP	C	C	G			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr14:74531615C>G	ENST00000553458.1	-	11	1511	c.1413G>C	c.(1411-1413)gtG>gtC	p.V471V	AC005484.5_ENST00000492026.1_RNA|CCDC176_ENST00000394009.3_3'UTR|ALDH6A1_ENST00000350259.4_Silent_p.V458V|ALDH6A1_ENST00000555126.1_Silent_p.V188V|CCDC176_ENST00000553773.1_Intron	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN	aldehyde dehydrogenase 6 family, member A1	471						mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21				BRCA - Breast invasive adenocarcinoma(234;0.00354)	NADH(DB00157)	TGGGGACATTCACTCCCACCT	0.443000													4	42					0	0	0.184627	0	0
AQP3	360	broad.mit.edu	37	9	33442444	33442444	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr9:33442444C>A	ENST00000297991.4	-	5	645	c.565G>T	c.(565-567)Ggc>Tgc	p.G189C	AQP3_ENST00000493581.1_5'UTR	NM_004925.4	NP_004916.1	Q92482	AQP3_HUMAN	aquaporin 3 (Gill blood group)	189					excretion|odontogenesis|positive regulation of immune system process|regulation of keratinocyte differentiation|response to calcium ion|response to retinoic acid|response to vitamin D	basolateral plasma membrane|cell-cell junction|cytoplasm	glycerol channel activity|water channel activity			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.0899)		GCCTCCAGGCCTCGGGGGACG	0.627000													11	21					3.03607e-14	3.63552e-14	0.411799	1	0
EPHA10	284656	broad.mit.edu	37	1	38227278	38227278	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr1:38227278C>A	ENST00000373048.4	-	3	648	c.649G>T	c.(649-651)Ggc>Tgc	p.G217C	EPHA10_ENST00000427468.2_Missense_Mutation_p.G217C|EPHA10_ENST00000319637.6_Missense_Mutation_p.G217C	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	217						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	p.G217S(1)		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)				GTGGCCAGGCCCCGCACGGTG	0.697000													4	14					1.23904e-05	1.31963e-05	0.184627	1	0
RYR2	6262	broad.mit.edu	37	1	237829816	237829816	+	Missense_Mutation	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr1:237829816C>T	ENST00000366574.2	+	57	8758	c.8441C>T	c.(8440-8442)tCt>tTt	p.S2814F	RYR2_ENST00000360064.6_Missense_Mutation_p.S2812F|RYR2_ENST00000542537.1_Missense_Mutation_p.S2798F	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2814	4 X approximate repeats.|Modulator (Potential).				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)			ATCTAGGTTTCTGTGGACGCT	0.368000													7	31					0	0	0.335167	0	0
GNL2	29889	broad.mit.edu	37	1	38049482	38049482	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr1:38049482C>A	ENST00000373062.3	-	6	720	c.622G>T	c.(622-624)Ggt>Tgt	p.G208C		NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	208					ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				TAGAGCTCACCCCATATTCTT	0.378000													9	91					0.00829132	0.00852561	0.361761	1	0
BMP10	27302	broad.mit.edu	37	2	69092786	69092786	+	Missense_Mutation	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr2:69092786C>T	ENST00000295379.1	-	2	1410	c.1252G>A	c.(1252-1254)Gtc>Atc	p.V418I		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	418					activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						CATTCGGAGACGGCCATGCCT	0.398000													39	111					0	0	0.864702	0	0
NCOA3	8202	broad.mit.edu	37	20	46255824	46255824	+	Nonsense_Mutation	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr20:46255824C>T	ENST00000372004.3	+	6	652	c.436C>T	c.(436-438)Caa>Taa	p.Q146*	NCOA3_ENST00000371997.3_Nonsense_Mutation_p.Q146*|NCOA3_ENST00000497292.1_3'UTR|NCOA3_ENST00000371998.3_Nonsense_Mutation_p.Q146*|NCOA3_ENST00000341724.6_Nonsense_Mutation_p.Q146*	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	146	PAS.				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						ACAATACCTGCAATATAAGCA	0.338000													27	92					0	0	0.693898	0	0
ZNF618	114991	broad.mit.edu	37	9	116812420	116812420	+	Silent	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr9:116812420C>T	ENST00000288466.7	+	14	2658	c.2559C>T	c.(2557-2559)ctC>ctT	p.L853L	ZNF618_ENST00000470105.1_3'UTR|ZNF618_ENST00000374126.5_Silent_p.L946L	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	946					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						TGAATAAACTCATGTTTCTGA	0.423000													17	111					0	0	0.592651	0	0
L1CAM	3897	broad.mit.edu	37	X	153136408	153136408	+	Silent	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chrX:153136408C>T	ENST00000370060.1	-	7	720	c.531G>A	c.(529-531)ttG>ttA	p.L177L	L1CAM_ENST00000370055.1_Silent_p.L172L|L1CAM_ENST00000361981.3_Silent_p.L172L|L1CAM_ENST00000543994.1_Silent_p.L179L|L1CAM_ENST00000370057.3_Silent_p.L177L|L1CAM_ENST00000361699.4_Silent_p.L177L|L1CAM_ENST00000538883.1_Silent_p.L179L	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	177	Ig-like C2-type 2.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCTTGATGTGCAAGATCTCTG	0.627000													35	95					0	0	0.840704	0	0
DDX26B	203522	broad.mit.edu	37	X	134715460	134715460	+	Nonsense_Mutation	SNP	A	A	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chrX:134715460A>T	ENST00000370752.4	+	17	2819	c.2485A>T	c.(2485-2487)Aga>Tga	p.R829*	DDX26B_ENST00000493637.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	829										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					CAGGTTTAAAAGACGAGTCCT	0.343000													10	61					0	0	0.435327	0	0
SMYD5	10322	broad.mit.edu	37	2	73446089	73446089	+	Missense_Mutation	SNP	G	G	A	rs138461928	by1000genomes	TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr2:73446089G>A	ENST00000389501.4	+	2	242	c.197G>A	c.(196-198)cGc>cAc	p.R66H	SMYD5_ENST00000474652.1_3'UTR	NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	66							metal ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						GCACTTTATCGCTACCGAGGT	0.547000													17	62					0	0	0.592651	0	0
CEP85	64793	broad.mit.edu	37	1	26586131	26586131	+	Missense_Mutation	SNP	C	C	G			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr1:26586131C>G	ENST00000252992.4	+	7	1310	c.1179C>G	c.(1177-1179)ttC>ttG	p.F393L	CEP85_ENST00000451429.2_Missense_Mutation_p.F342L	NM_022778.2	NP_073615.2	Q6P2H3	CEP85_HUMAN	centrosomal protein 85kDa	393						centrosome|nucleolus|spindle pole				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						AAAACACTTTCTTACGTGCAC	0.403000													12	159					0	0	0.457914	0	0
TTC29	83894	broad.mit.edu	37	4	147860996	147860996	+	Missense_Mutation	SNP	C	C	G			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr4:147860996C>G	ENST00000513335.1	-	4	329	c.130G>C	c.(130-132)Gcc>Ccc	p.A44P	TTC29_ENST00000325106.4_Missense_Mutation_p.A18P|TTC29_ENST00000398886.4_Missense_Mutation_p.A44P|RP11-292D4.2_ENST00000515530.1_RNA			Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	18							binding			breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TTCTGTCTGGCTAAGGCTGTA	0.418000													4	24					0	0	0.184627	0	0
FRAS1	80144	broad.mit.edu	37	4	79238637	79238637	+	Missense_Mutation	SNP	C	C	G			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr4:79238637C>G	ENST00000264895.6	+	17	2375	c.1935C>G	c.(1933-1935)ttC>ttG	p.F645L	FRAS1_ENST00000325942.6_Missense_Mutation_p.F645L|FRAS1_ENST00000264899.6_Missense_Mutation_p.F645L	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	645					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						GAGAGGGTTTCTACTCTGACC	0.522000													6	33					0	0	0.248553	0	0
DCDC1	341019	broad.mit.edu	37	11	30946907	30946907	+	Missense_Mutation	SNP	A	A	T	rs144747891	byFrequency	TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr11:30946907A>T	ENST00000597505.1	-	21	2945	c.2946T>A	c.(2944-2946)aaT>aaA	p.N982K	DCDC1_ENST00000339794.5_Missense_Mutation_p.N61K|DCDC1_ENST00000406071.2_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	217					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TCCCCTTTTCATTGTACAATC	0.363000													56	122					0	0	0.870114	0	0
NOTCH4	4855	broad.mit.edu	37	6	32184981	32184981	+	Missense_Mutation	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr6:32184981C>T	ENST00000375023.3	-	10	1825	c.1687G>A	c.(1687-1689)Ggt>Agt	p.G563S		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	563	EGF-like 14; calcium-binding (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CACTGCCCACCATTGGCACAG	0.627000													28	70					0	0	0.740014	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84607882	84607882	+	Missense_Mutation	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr9:84607882C>T	ENST00000344803.2	+	4	2544	c.2497C>T	c.(2497-2499)Cgt>Tgt	p.R833C		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		CCTGACAGTACGTTTGAGCAA	0.448000													6	80					0	0	0.335167	0	0
ARID1A	8289	broad.mit.edu	37	1	27101217	27101217	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr1:27101217G>T	ENST00000324856.7	+	18	4870	c.4499G>T	c.(4498-4500)gGg>gTg	p.G1500V	ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000457599.2_Intron|ARID1A_ENST00000374152.2_Missense_Mutation_p.G1117V	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1500					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	nBAF complex|npBAF complex|SWI/SNF 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)		ATGTGGCAGGGGCGTAATGAC	0.582000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								19	86					6.44725e-10	7.34426e-10	0.624587	1	0
SMUG1	23583	broad.mit.edu	37	12	54577566	54577566	+	Silent	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr12:54577566G>A	ENST00000505128.1	-	3	281	c.159C>T	c.(157-159)atC>atT	p.I53I	SMUG1_ENST00000514196.1_Silent_p.I53I|SMUG1_ENST00000506595.1_Silent_p.I53I|SMUG1_ENST00000337581.3_Silent_p.I53I|SMUG1_ENST00000401977.2_Silent_p.I53I|SMUG1_ENST00000243112.5_Silent_p.I53I|SMUG1_ENST00000505662.1_5'UTR|SMUG1_ENST00000513838.1_Silent_p.I53I|SMUG1_ENST00000508394.2_Silent_p.I53I|SMUG1_ENST00000514685.1_Silent_p.I53I			Q53HV7	SMUG1_HUMAN	single-strand-selective monofunctional uracil-DNA glycosylase 1	53					depyrimidination	nucleolus|nucleoplasm	DNA binding|protein binding|single-strand selective uracil DNA N-glycosylase activity			kidney(1)|large_intestine(4)|lung(1)	6						GATTGTAGATGATGCCCACAG	0.592000								Base excision repair (BER), DNA glycosylases					13	33					0	0	0.500413	0	0
FFAR1	2864	broad.mit.edu	37	19	35842977	35842977	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr19:35842977G>T	ENST00000246553.2	+	1	533	c.523G>T	c.(523-525)Gac>Tac	p.D175Y		NM_005303.2	NP_005294.1	O14842	FFAR1_HUMAN	free fatty acid receptor 1	175					energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity|lipid binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;4.58e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.67e-19)|all cancers(14;2.01e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		Icosapent(DB00159)	GGAGGCCTGGGACCCGGCCTC	0.662000													6	48					2.7689e-08	3.07916e-08	0.248553	1	0
USP8	9101	broad.mit.edu	37	15	50782020	50782020	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr15:50782020G>A	ENST00000433963.1	+	14	2413	c.1913G>A	c.(1912-1914)aGa>aAa	p.R638K	USP8_ENST00000425032.3_Missense_Mutation_p.R532K|USP8_ENST00000396444.3_Missense_Mutation_p.R638K|USP8_ENST00000307179.4_Missense_Mutation_p.R638K	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	638					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		CCTTTGACAAGAGCACGAAGT	0.323000													9	50					0	0	0.361761	0	0
MT1JP	4498	broad.mit.edu	37	16	56670820	56670820	+	RNA	SNP	A	A	G			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr16:56670820A>G	ENST00000564564.1	+	0	799																											CTGCATCTGCAAAGGGACGTC	0.542000													61	117					0	0	0.870114	0	0
NBPF3	84224	broad.mit.edu	37	1	21808122	21808122	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr1:21808122C>A	ENST00000318220.6	+	16	2346	c.1298C>A	c.(1297-1299)cCt>cAt	p.P433H	NBPF3_ENST00000454000.2_Missense_Mutation_p.P419H|NBPF3_ENST00000342104.5_Missense_Mutation_p.P477H|NBPF3_ENST00000318249.5_Missense_Mutation_p.P489H			Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	489	NBPF 3.					cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GTAGTAGAGCCTGAGGACTTG	0.478000													12	92					1.67942e-08	1.87078e-08	0.539581	1	0
MICAL3	57553	broad.mit.edu	37	22	18301083	18301083	+	Silent	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr22:18301083C>T	ENST00000441493.2	-	26	4696	c.4344G>A	c.(4342-4344)tcG>tcA	p.S1448S		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1448	Pro-rich.					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)		TGGCGGAGTCCGAGGTGTTGA	0.711000													6	8					0	0	0.278610	0	0
XPC	7508	broad.mit.edu	37	3	14190340	14190340	+	Missense_Mutation	SNP	G	G	C			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr3:14190340G>C	ENST00000285021.7	-	12	2438	c.2224C>G	c.(2224-2226)Cag>Gag	p.Q742E	XPC_ENST00000449060.2_Missense_Mutation_p.Q705E	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	742	Minimal sensor domain involved in damage recognition.				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding	p.Q742E(1)		NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ACTGGGGGCTGATACTCCTCT	0.602000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				8	32					0	0	0.307466	0	0
SRRT	51593	broad.mit.edu	37	7	100482974	100482974	+	Missense_Mutation	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr7:100482974C>T	ENST00000388793.4	+	10	1517	c.1297C>T	c.(1297-1299)Cgg>Tgg	p.R433W	SRRT_ENST00000457580.2_Missense_Mutation_p.R434W|SRRT_ENST00000347433.4_Missense_Mutation_p.R434W|SRRT_ENST00000432932.1_Missense_Mutation_p.R433W	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	434					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						CAACATCTCCCGGGCCGAGAT	0.652000													8	61					0	0	0.335167	0	0
MICALL1	85377	broad.mit.edu	37	22	38322036	38322036	+	Missense_Mutation	SNP	G	G	C			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr22:38322036G>C	ENST00000215957.6	+	8	1577	c.1451G>C	c.(1450-1452)aGc>aCc	p.S484T		NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	484	Pro-rich.					cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					CGCGCACCCAGCGCGTCCCCA	0.706000													19	27					0	0	0.592651	0	0
GIGYF1	64599	broad.mit.edu	37	7	100282985	100282985	+	Missense_Mutation	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr7:100282985C>T	ENST00000275732.5	-	10	2383	c.1174G>A	c.(1174-1176)Gag>Aag	p.E392K	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	392										central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GCTGGGGGCTCTTTCTCTGCA	0.662000													21	66					0	0	0.639603	0	0
TANK	10010	broad.mit.edu	37	2	162036256	162036256	+	Missense_Mutation	SNP	A	A	C			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr2:162036256A>C	ENST00000392749.2	+	2	322	c.83A>C	c.(82-84)aAa>aCa	p.K28T	TANK_ENST00000457476.1_Missense_Mutation_p.K28T|TANK_ENST00000405852.1_Missense_Mutation_p.K28T|TANK_ENST00000403609.1_Missense_Mutation_p.K28T|TANK_ENST00000402568.1_Missense_Mutation_p.K86T|TANK_ENST00000259075.2_Missense_Mutation_p.K28T|TANK_ENST00000406287.1_Missense_Mutation_p.K86T	NM_001199135.1	NP_001186064.1	Q92844	TANK_HUMAN	TRAF family member-associated NFKB activator	28						cytosol	metal ion binding|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)	21						TCTGCAGTAAAAGAATTACAG	0.388000													23	61					0	0	0.654019	0	0
CNKSR3	154043	broad.mit.edu	37	6	154754614	154754614	+	Missense_Mutation	SNP	T	T	G			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr6:154754614T>G	ENST00000607772.1	-	5	1079	c.535A>C	c.(535-537)Aaa>Caa	p.K179Q	CNKSR3_ENST00000433165.2_Missense_Mutation_p.K4Q|CNKSR3_ENST00000479339.1_Missense_Mutation_p.K99Q	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	179					negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane		p.?(1)		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)		GTTAAAACTTTATCCTCCATT	0.348000													6	11					0	0	0.278610	0	0
AREL1	9870	broad.mit.edu	37	14	75130623	75130623	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr14:75130623G>A	ENST00000356357.4	-	19	2863	c.2348C>T	c.(2347-2349)aCg>aTg	p.T783M	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1			apoptosis resistant E3 ubiquitin protein ligase 1																		AGTAGGCAGCGTGCTATGGGT	0.537000													8	187					0	0	0.335167	0	0
ERN1	2081	broad.mit.edu	37	17	62145576	62145576	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr17:62145576G>A	ENST00000433197.2	-	7	649	c.554C>T	c.(553-555)tCa>tTa	p.S185L		NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signaling 1	185					activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						CTCAGGCAGTGAGGCCGCATA	0.517000													5	34					0	0	0.184627	0	0
LRRC7	57554	broad.mit.edu	37	1	70488821	70488821	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr1:70488821C>A	ENST00000310961.5	+	18	1877	c.1459C>A	c.(1459-1461)Caa>Aaa	p.Q487K	LRRC7_ENST00000035383.5_Missense_Mutation_p.Q482K|RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000415775.2_Intron			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	482						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TCTCTCCTGCCAAGCCCCCTG	0.507000													20	42					4.26978e-12	4.98521e-12	0.654019	1	0
RIN3	79890	broad.mit.edu	37	14	93043770	93043770	+	Silent	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr14:93043770G>A	ENST00000216487.7	+	3	474	c.315G>A	c.(313-315)ctG>ctA	p.L105L	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	105	SH2.				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)				TTCCTTCTCTGAACGAAAGCT	0.517000													41	94					0	0	0.827153	0	0
MROH1	727957	broad.mit.edu	37	8	145246689	145246689	+	Silent	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr8:145246689G>A	ENST00000528919.1	+	8	907	c.786G>A	c.(784-786)caG>caA	p.Q262Q	MROH1_ENST00000326134.5_Silent_p.Q262Q|MROH1_ENST00000398656.4_Silent_p.Q262Q|MROH1_ENST00000423230.2_Silent_p.Q262Q|MROH1_ENST00000534366.1_Silent_p.Q262Q	NM_032450.2	NP_115826.2			maestro heat-like repeat family member 1																		TGGAAGAGCAGCTGCCCAAGC	0.607000													9	53					0	0	0.387290	0	0
BMI1	648	broad.mit.edu	37	10	22616706	22616706	+	Missense_Mutation	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr10:22616706C>T	ENST00000376663.3	+	5	806	c.301C>T	c.(301-303)Cat>Tat	p.H101Y	COMMD3-BMI1_ENST00000602390.1_Missense_Mutation_p.H244Y	NM_005180.8	NP_005171.4			BMI1 polycomb ring finger oncogene											breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|urinary_tract(1)	12						TTATGCAGCTCATCCTTCTGC	0.343000													30	103					0	0	0.819951	0	0
WDR12	55759	broad.mit.edu	37	2	203745650	203745650	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr2:203745650C>A	ENST00000261015.3	-	13	1954	c.1205G>T	c.(1204-1206)aGt>aTt	p.S402I		NM_018256.3	NP_060726.3	Q9GZL7	WDR12_HUMAN	WD repeat domain 12	402	Sufficient for nucleolar localization.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding			endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)	13						TGCTCCTCCACTCAGAAGTAG	0.303000													25	36					9.65021e-13	1.14717e-12	0.750413	1	0
STK11	6794	broad.mit.edu	37	19	1221976	1221976	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr19:1221976G>T	ENST00000326873.7	+	7	2064	c.891G>T	c.(889-891)agG>agT	p.R297S		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	297	Protein kinase.		R -> K (in PJS).		anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.R297S(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGCCAAGAGGTTCTCCATCC	0.697000		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			5	2					0.217242	0.218577	0.217242	1	0
SPEG	10290	broad.mit.edu	37	2	220348085	220348085	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr2:220348085C>A	ENST00000312358.7	+	30	6032	c.5900C>A	c.(5899-5901)gCt>gAt	p.A1967D	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1967					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GAGACTGGGGCTGCCACCCCC	0.697000													4	17					8.12818e-05	8.57321e-05	0.248553	1	0
TAF1L	138474	broad.mit.edu	37	9	32631684	32631684	+	Silent	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr9:32631684G>A	ENST00000242310.4	-	1	3983	c.3894C>T	c.(3892-3894)tgC>tgT	p.C1298C		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1298					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AATAGAGGGGGCAGAATTTGT	0.443000													117	159					0	0	0.870114	0	0
SUN1	23353	broad.mit.edu	37	7	892462	892462	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr7:892462G>A	ENST00000456758.2	+	15	1493	c.1493G>A	c.(1492-1494)cGg>cAg	p.R498Q	SUN1_ENST00000452783.2_Missense_Mutation_p.R206Q|SUN1_ENST00000389574.3_Missense_Mutation_p.R226Q|SUN1_ENST00000405266.1_Missense_Mutation_p.R346Q|SUN1_ENST00000425407.2_Missense_Mutation_p.R226Q|SUN1_ENST00000413514.2_Missense_Mutation_p.R118Q|SUN1_ENST00000401592.1_Missense_Mutation_p.R309Q			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	336					cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding	p.R226L(1)|p.R309L(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTCTCCTTACGGGGCCAGGGC	0.502000													58	168					0	0	0.870114	0	0
SNTG2	54221	broad.mit.edu	37	2	1241750	1241750	+	Silent	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr2:1241750G>T	ENST00000308624.5	+	10	939	c.810G>T	c.(808-810)cgG>cgT	p.R270R	SNTG2_ENST00000407292.1_Silent_p.R143R	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	270					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		ACTGGCTGCGGGCGGTCTCAG	0.577000													9	14					0.000673444	0.000697952	0.361761	1	0
COL11A1	1301	broad.mit.edu	37	1	103468337	103468337	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr1:103468337C>A	ENST00000358392.2	-	22	2362	c.2045G>T	c.(2044-2046)gGt>gTt	p.G682V	COL11A1_ENST00000353414.4_Missense_Mutation_p.G631V|COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000370096.3_Missense_Mutation_p.G670V|COL11A1_ENST00000512756.1_Missense_Mutation_p.G554V	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	670	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GCCATCTACACCTGCCATACC	0.323000													39	55					1.61004e-24	2.11338e-24	0.870114	1	0
MALAT1	378938	broad.mit.edu	37	11	65267826	65267826	+	RNA	SNP	T	T	C			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr11:65267826T>C	ENST00000534336.1	+	0	2594					NR_002819.2																						GTTAAGATTATTTTTTAAATC	0.368000													13	43					0	0	0.479597	0	0
CENPF	1063	broad.mit.edu	37	1	214818844	214818844	+	Silent	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr1:214818844G>T	ENST00000366955.3	+	13	6099	c.5931G>T	c.(5929-5931)ctG>ctT	p.L1977L		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2073					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		CCACGGCACTGGATCAGTTGT	0.438000													13	72					0.0202918	0.0207027	0.457914	1	0
GRID1	2894	broad.mit.edu	37	10	87615795	87615795	+	Silent	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr10:87615795G>T	ENST00000327946.7	-	7	1189	c.1104C>A	c.(1102-1104)acC>acA	p.T368T		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	368						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	CCTTTTTGATGGTATCCAGCA	0.552000										Multiple Myeloma(13;0.14)			59	83					6.25564e-26	8.29442e-26	0.870114	1	0
ZNF577	84765	broad.mit.edu	37	19	52376621	52376621	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr19:52376621G>A	ENST00000420592.1	-	6	1778	c.445C>T	c.(445-447)Cac>Tac	p.H149Y	ZNF577_ENST00000301399.5_Missense_Mutation_p.H208Y|ZNF577_ENST00000451628.2_Missense_Mutation_p.H149Y|ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000485702.1_Intron			Q9BSK1	ZN577_HUMAN	zinc finger protein 577	208					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TCTCCTGTGTGAGTTCTCTGA	0.463000													30	30					0	0	0.729181	0	0
LOXL2	4017	broad.mit.edu	37	8	23225689	23225689	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr8:23225689C>A	ENST00000389131.3	-	2	545	c.176G>T	c.(175-177)cGc>cTc	p.R59L		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	59	SRCR 1.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		CCCAGCCAGGCGCAGCTGAAT	0.627000													45	37					2.24722e-20	2.89181e-20	0.870114	1	0
PLEKHB1	58473	broad.mit.edu	37	11	73372606	73372606	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr11:73372606G>A	ENST00000354190.5	+	8	1122	c.691G>A	c.(691-693)Gcg>Acg	p.A231T	PLEKHB1_ENST00000227214.6_Missense_Mutation_p.A177T|PLEKHB1_ENST00000535129.1_Missense_Mutation_p.A177T|PLEKHB1_ENST00000543085.1_Missense_Mutation_p.A126T|PLEKHB1_ENST00000398492.4_Missense_Mutation_p.A196T|PLEKHB1_ENST00000398494.4_Missense_Mutation_p.A212T	NM_021200.2	NP_067023.1	Q9UF11	PKHB1_HUMAN	pleckstrin homology domain containing, family B (evectins) member 1	231					multicellular organismal development|phototransduction	cytoplasm|integral to membrane	signal transducer activity			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	7						CGCCACTGGGGCGGCGCTGGG	0.682000											OREG0021217	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	36	65					0	0	0.812448	0	0
UBE3A	7337	broad.mit.edu	37	15	25605644	25605644	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr15:25605644C>A	ENST00000232165.3	-	7	2295	c.1639G>T	c.(1639-1641)Gac>Tac	p.D547Y	UBE3A_ENST00000428984.2_Missense_Mutation_p.D527Y|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000438097.1_Missense_Mutation_p.D527Y|UBE3A_ENST00000397954.2_Missense_Mutation_p.D550Y|UBE3A_ENST00000566215.1_Missense_Mutation_p.D527Y	NM_000462.3|NM_130839.2	NP_000453.2|NP_570854.1	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	550					brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		TTCTTCAAGTCTGCAGGATTT	0.358000													31	31					4.3181e-19	5.47071e-19	0.769981	1	0
VPS72	6944	broad.mit.edu	37	1	151149328	151149328	+	Missense_Mutation	SNP	T	T	C			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr1:151149328T>C	ENST00000354473.4	-	6	956	c.920A>G	c.(919-921)cAt>cGt	p.H307R	VPS72_ENST00000496809.1_5'UTR	NM_001271087.1|NM_005997.1	NP_001258016.1|NP_005988.1	Q15906	VPS72_HUMAN	vacuolar protein sorting 72 homolog (S. cerevisiae)	296					chromatin modification|negative regulation of transcription from RNA polymerase II promoter	nucleus|protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGCTGGACGATGGGTCACTGG	0.522000													61	72					0	0	0.870114	0	0
THNSL2	55258	broad.mit.edu	37	2	88485432	88485432	+	Missense_Mutation	SNP	C	C	G			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr2:88485432C>G	ENST00000324166.5	+	8	2936	c.1245C>G	c.(1243-1245)tgC>tgG	p.C415W	THNSL2_ENST00000496844.1_3'UTR|THNSL2_ENST00000449349.1_Missense_Mutation_p.A241G|THNSL2_ENST00000377254.3_Missense_Mutation_p.P365A|THNSL2_ENST00000343544.4_3'UTR|THNSL2_ENST00000358591.2_Missense_Mutation_p.C415W	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	415					threonine biosynthetic process		threonine synthase activity			breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						CCCGGTGCTGCCTCGCCCCTG	0.617000													3	18					0	0	0.217242	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													7	77					0	0	0.335167	0	0
CRB2	286204	broad.mit.edu	37	9	126132645	126132645	+	Missense_Mutation	SNP	A	A	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr9:126132645A>T	ENST00000373631.3	+	7	1314	c.1313A>T	c.(1312-1314)aAt>aTt	p.N438I	CRB2_ENST00000359999.3_Missense_Mutation_p.N438I|CRB2_ENST00000373629.2_Missense_Mutation_p.N106I	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	438	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						TGTGGCCAGAATACCACCTTC	0.622000													6	84					0	0	0.278610	0	0
PAPPA2	60676	broad.mit.edu	37	1	176564387	176564387	+	Silent	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr1:176564387G>T	ENST00000367662.3	+	3	2811	c.1647G>T	c.(1645-1647)ctG>ctT	p.L549L	PAPPA2_ENST00000367661.3_Silent_p.L549L	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	549	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AGATTCGTCTGCAGCACGAGG	0.577000													24	93					2.39556e-15	2.94389e-15	0.639603	1	0
CHRM1	1128	broad.mit.edu	37	11	62677484	62677484	+	Silent	SNP	C	C	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr11:62677484C>A	ENST00000306960.3	-	2	1630	c.1089G>T	c.(1087-1089)gcG>gcT	p.A363A	AP000438.2_ENST00000543624.1_RNA	NM_000738.2	NP_000729.2	P11229	ACM1_HUMAN	cholinergic receptor, muscarinic 1	363					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell proliferation|nervous system development|positive regulation of cell proliferation|protein modification process	cell junction|integral to plasma membrane|membrane fraction|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity|protein binding			large_intestine(5)|lung(3)|stomach(1)	9					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Benztropine(DB00245)|Bethanechol(DB01019)|Biperiden(DB00810)|Buclizine(DB00354)|Carbachol(DB00411)|Carbinoxamine(DB00748)|Cevimeline(DB00185)|Clidinium(DB00771)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Doxylamine(DB00366)|Ethopropazine(DB00392)|Flavoxate(DB01148)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quinacrine(DB01103)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trospium(DB00209)	GGGTCCGAGCCGCCTTCTTCT	0.597000													16	29					1.40151e-16	1.74855e-16	0.592651	1	0
FREM1	158326	broad.mit.edu	37	9	14807943	14807943	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr9:14807943G>T	ENST00000380881.4	-	18	3901	c.3086C>A	c.(3085-3087)gCa>gAa	p.A1029E	FREM1_ENST00000380880.3_Missense_Mutation_p.A1028E|FREM1_ENST00000422223.2_Missense_Mutation_p.A1028E			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1028					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)		GTCACCTATTGCAATGGAAGG	0.398000													29	258					8.88839e-20	1.13709e-19	0.750413	1	0
KLK7	5650	broad.mit.edu	37	19	51480935	51480935	+	Missense_Mutation	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr19:51480935C>T	ENST00000391807.1	-	6	720	c.619G>A	c.(619-621)Gga>Aga	p.G207R	CTB-147C22.9_ENST00000594512.1_RNA|KLK7_ENST00000597707.1_Missense_Mutation_p.G135R|KLK7_ENST00000595820.1_Missense_Mutation_p.G207R|KLK7_ENST00000336317.4_Missense_Mutation_p.G94R	NM_139277.2	NP_644806.1	P49862	KLK7_HUMAN	kallikrein-related peptidase 7	207	Peptidase S1.				epidermis development|proteolysis	extracellular region	serine-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)		ACCAACGGTCCCCCTGAGTCA	0.517000													7	61					0	0	0.248553	0	0
CCDC27	148870	broad.mit.edu	37	1	3669225	3669225	+	Silent	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr1:3669225C>T	ENST00000294600.2	+	1	264	c.180C>T	c.(178-180)tcC>tcT	p.S60S		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	60										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		GTTCGATGTCCAGCTCGATGG	0.602000													25	74					0	0	0.760397	0	0
GDAP1	54332	broad.mit.edu	37	8	75262778	75262778	+	Silent	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr8:75262778C>T	ENST00000220822.7	+	1	162	c.82C>T	c.(82-84)Ctg>Ttg	p.L28L	GDAP1_ENST00000521096.1_Intron|GDAP1_ENST00000434412.2_Intron	NM_001040875.2|NM_018972.2	NP_001035808.1|NP_061845.2	Q8TB36	GDAP1_HUMAN	ganglioside induced differentiation associated protein 1	28	GST N-terminal.					cytoplasm				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)			TAAGCTCATTCTGTACCATTG	0.622000													11	77					0	0	0.411799	0	0
KRAS	3845	broad.mit.edu	37	12	25398282	25398282	+	Missense_Mutation	SNP	C	C	A	rs121913535		TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr12:25398282C>A	ENST00000311936.3	-	2	228	c.37G>T	c.(37-39)Ggc>Tgc	p.G13C	KRAS_ENST00000256078.4_Missense_Mutation_p.G13C|KRAS_ENST00000556131.1_Missense_Mutation_p.G13C|KRAS_ENST00000557334.1_Missense_Mutation_p.G13C	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	13			G -> D (in a breast carcinoma cell line and GASC; somatic mutation).|G -> R (in pylocytic astrocytoma; somatic mutation; increase activation of the Ras pathway).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G13C(213)|p.G13S(59)|p.G13R(43)|p.G12_G13insG(3)|p.G13N(1)|p.G13I(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)			TTGCCTACGCCACCAGCTCCA	0.343000	G13C(MORCPR_LUNG)|G13C(NCIH1355_LUNG)|G13C(NCIH1734_LUNG)|G13C(TOV21G_OVARY)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			16	11					4.96729e-08	5.4959e-08	0.575678	1	0
ZP4	57829	broad.mit.edu	37	1	238048537	238048537	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr1:238048537G>T	ENST00000366570.4	-	9	1397	c.1239C>A	c.(1237-1239)caC>caA	p.H413Q	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	413	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AGCGCTGGTGGTGAGAGGGAA	0.537000													31	36					2.81731e-10	3.23177e-10	0.750413	1	0
HMX3	340784	broad.mit.edu	37	10	124896633	124896633	+	Missense_Mutation	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr10:124896633C>T	ENST00000357878.5	+	2	549	c.460C>T	c.(460-462)Ccg>Tcg	p.P154S		NM_001105574.1	NP_001099044.1	A6NHT5	HMX3_HUMAN	H6 family homeobox 3	154					cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity			lung(4)	4		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141)		CCGCGACTCTCCGGAGCCACT	0.622000													4	13					0	0	0.150653	0	0
CILP	8483	broad.mit.edu	37	15	65499281	65499281	+	Missense_Mutation	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr15:65499281C>T	ENST00000261883.4	-	4	429	c.263G>A	c.(262-264)cGt>cAt	p.R88H		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	88					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CCGCAGGGGACGGGCACATAC	0.617000													7	12					0	0	0.387290	0	0
DPYD	1806	broad.mit.edu	37	1	97839190	97839190	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr1:97839190G>A	ENST00000370192.3	-	16	2085	c.1985C>T	c.(1984-1986)gCa>gTa	p.A662V		NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	662	Uracil binding (Potential).				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	CAGGGCATCTGCTCCAGAATC	0.428000													12	33					0	0	0.520397	0	0
LOC101929006	101929006	broad.mit.edu	37	6	29230481	29230481	+	RNA	SNP	T	T	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr6:29230481T>A	ENST00000441381.1	+	0	79																											CCTTATTCCTTAGTGGGATGG	0.398000													6	67					0	0	0.248553	0	0
HTRA1	5654	broad.mit.edu	37	10	124249141	124249141	+	Splice_Site	SNP	A	A	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr10:124249141A>T	ENST00000368984.3	+	3	904	c.777_splice	c.e3+1	p.Q259_splice		NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1	259	Serine protease.				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				ATTGACCACCAGGTAAGGGTG	0.532000													24	22					0	0	0.624587	0	0
CLCN1	1180	broad.mit.edu	37	7	143048844	143048844	+	Missense_Mutation	SNP	G	G	C			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr7:143048844G>C	ENST00000343257.2	+	23	2840	c.2753G>C	c.(2752-2754)gGa>gCa	p.G918A		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	918					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					GGGGCCACTGGAACAGGGGAT	0.622000													24	71					0	0	0.667858	0	0
ASCC3	10973	broad.mit.edu	37	6	101090536	101090536	+	Missense_Mutation	SNP	A	A	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr6:101090536A>T	ENST00000369162.2	-	24	4166	c.3822T>A	c.(3820-3822)gaT>gaA	p.D1274E		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	1274	SEC63 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)		CCAACCATCTATCAGACACTG	0.398000													36	125					0	0	0.812448	0	0
NAP1L4	4676	broad.mit.edu	37	11	2981071	2981071	+	Silent	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr11:2981071G>A	ENST00000380542.4	-	9	815	c.675C>T	c.(673-675)taC>taT	p.Y225Y	NAP1L4_ENST00000526115.1_Silent_p.Y225Y	NM_005969.3	NP_005960.1	Q99733	NP1L4_HUMAN	nucleosome assembly protein 1-like 4	225					nucleosome assembly	chromatin assembly complex|cytoplasm	unfolded protein binding			endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)	13		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211)		ATTTCATCTTGTAGGTTTTTG	0.393000													24	49					0	0	0.654019	0	0
PHF3	23469	broad.mit.edu	37	6	64394489	64394489	+	Nonsense_Mutation	SNP	C	C	G			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr6:64394489C>G	ENST00000262043.3	+	4	1206	c.866C>G	c.(865-867)tCa>tGa	p.S289*	PHF3_ENST00000509330.1_Nonsense_Mutation_p.S289*|PHF3_ENST00000393387.1_Nonsense_Mutation_p.S289*			Q92576	PHF3_HUMAN	PHD finger protein 3	289					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	p.S289L(1)		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)			TTTAAGTTTTCAGATAAAGAA	0.343000													19	47					0	0	0.575678	0	0
RNF186	54546	broad.mit.edu	37	1	20141127	20141127	+	Silent	SNP	G	G	C	rs143373684	byFrequency	TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr1:20141127G>C	ENST00000375121.2	-	1	644	c.468C>G	c.(466-468)gcC>gcG	p.A156A	RP11-91K11.2_ENST00000454736.1_RNA	NM_019062.1	NP_061935.1	Q9NXI6	RN186_HUMAN	ring finger protein 186	156						integral to membrane	zinc ion binding			kidney(1)|lung(3)|urinary_tract(1)	5		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;7.77e-05)|Kidney(64;0.000162)|GBM - Glioblastoma multiforme(114;0.00036)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GTAGGTGCGCGGCCAGGCGCC	0.612000													50	95					0	0	0.870114	0	0
DPM1	8813	broad.mit.edu	37	20	49571794	49571794	+	Missense_Mutation	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr20:49571794C>T	ENST00000371582.4	-	2	221	c.190G>A	c.(190-192)Gat>Aat	p.D64N	DPM1_ENST00000466152.1_5'UTR|DPM1_ENST00000371588.5_Missense_Mutation_p.D64N|DPM1_ENST00000371583.5_Missense_Mutation_p.D64N			O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit	64					C-terminal protein lipidation|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|protein N-linked glycosylation via asparagine|protein O-linked mannosylation	dolichol-phosphate-mannose synthase complex|endoplasmic reticulum membrane|membrane fraction	dolichyl-phosphate beta-D-mannosyltransferase activity|dolichyl-phosphate-mannose-protein mannosyltransferase activity|protein binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						CTTCCATCATCTATGATTATA	0.294000													17	45					0	0	0.520397	0	0
JAK1	3716	broad.mit.edu	37	1	65349142	65349142	+	Missense_Mutation	SNP	T	T	C			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr1:65349142T>C	ENST00000342505.4	-	3	271	c.23A>G	c.(22-24)gAg>gGg	p.E8G		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	8					interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		ATTGCAGTCCTCTTTTATATT	0.438000			Mis		ALL								4	68					0	0	0.184627	0	0
PLCB3	5331	broad.mit.edu	37	11	64021900	64021900	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr11:64021900G>T	ENST00000540288.1	+	2	216	c.113G>T	c.(112-114)cGg>cTg	p.R38L	PLCB3_ENST00000279230.6_Missense_Mutation_p.R38L|PLCB3_ENST00000325234.5_Intron	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	38					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						ACCTCCAGTCGGAACCTGGTG	0.657000													67	347					9.90312e-32	1.35702e-31	0.870114	1	0
LEMD3	23592	broad.mit.edu	37	12	65564629	65564629	+	Missense_Mutation	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr12:65564629C>T	ENST00000308330.2	+	1	1279	c.1253C>T	c.(1252-1254)gCc>gTc	p.A418V	LEMD3_ENST00000541171.1_Intron	NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	418					negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		GCGGTGGCCGCCTCTAGTTCA	0.507000													42	49					0	0	0.870114	0	0
SLC7A6	9057	broad.mit.edu	37	16	68330369	68330369	+	Missense_Mutation	SNP	C	C	G			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr16:68330369C>G	ENST00000566454.1	+	10	1491	c.1222C>G	c.(1222-1224)Cag>Gag	p.Q408E	SLC7A6_ENST00000219343.6_Missense_Mutation_p.Q408E	NM_001076785.2	NP_001070253.1	Q92536	YLAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 6	408					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|antiporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948)		TGTTGTTGGACAGCTCTACCT	0.572000													28	126					0	0	0.706142	0	0
AHCYL1	10768	broad.mit.edu	37	1	110561707	110561707	+	Missense_Mutation	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr1:110561707C>T	ENST00000369799.5	+	14	1719	c.1352C>T	c.(1351-1353)cCc>cTc	p.P451L	AHCYL1_ENST00000393614.4_Missense_Mutation_p.P404L|AHCYL1_ENST00000359172.3_Missense_Mutation_p.P404L	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	O43865	SAHH2_HUMAN	adenosylhomocysteinase-like 1	451					one-carbon metabolic process	endoplasmic reticulum	adenosylhomocysteinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		TCCACAGTTCCCACCTTTGTT	0.498000													47	58					0	0	0.870114	0	0
SLC31A2	1318	broad.mit.edu	37	9	115920023	115920023	+	Nonsense_Mutation	SNP	C	C	G			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr9:115920023C>G	ENST00000259392.3	+	2	156	c.23C>G	c.(22-24)tCa>tGa	p.S8*		NM_001860.2	NP_001851.1	O15432	COPT2_HUMAN	solute carrier family 31 (copper transporter), member 2	8						integral to plasma membrane	copper ion transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	7						TTCATCTTCTCAGATACAGCG	0.483000													4	13					0	0	0.184627	0	0
PTCD3	55037	broad.mit.edu	37	2	86352636	86352636	+	Missense_Mutation	SNP	A	A	C			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr2:86352636A>C	ENST00000254630.7	+	11	929	c.863A>C	c.(862-864)cAt>cCt	p.H288P	PTCD3_ENST00000409277.3_3'UTR	NM_017952.5	NP_060422.4	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3	288						mitochondrion	protein binding			NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						AACAGACTCCATGGTGAGTTT	0.408000													38	102					0	0	0.870114	0	0
KIRREL	55243	broad.mit.edu	37	1	158064827	158064827	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr1:158064827G>A	ENST00000368172.1	+	11	1645	c.1633G>A	c.(1633-1635)Gcc>Acc	p.A545T	KIRREL_ENST00000360089.4_Missense_Mutation_p.A567T|KIRREL_ENST00000392272.2_Missense_Mutation_p.A628T|KIRREL_ENST00000368173.3_Missense_Mutation_p.A747T|KIRREL_ENST00000416935.2_Missense_Mutation_p.A631T|KIRREL_ENST00000359209.6_Missense_Mutation_p.A731T			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	731						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					TGGCAAGTACGCCACAGCCAC	0.647000													8	54					0	0	0.361761	0	0
CAMLG	819	broad.mit.edu	37	5	134074341	134074341	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr5:134074341G>A	ENST00000297156.2	+	1	151	c.31G>A	c.(31-33)Ggg>Agg	p.G11R	CAMLG_ENST00000514518.1_Missense_Mutation_p.G11R	NM_001745.3	NP_001736.1	P49069	CAMLG_HUMAN	calcium modulating ligand	11					defense response	endoplasmic reticulum|integral to membrane				NS(1)|cervix(1)|kidney(3)|lung(3)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Cyclosporine(DB00091)	TACCGACGGCGGGGAGAGGCC	0.682000													6	17					0	0	0.307466	0	0
ZNF679	168417	broad.mit.edu	37	7	63720684	63720684	+	Missense_Mutation	SNP	G	G	C			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr7:63720684G>C	ENST00000421025.1	+	3	394	c.125G>C	c.(124-126)aGa>aCa	p.R42T	ZNF679_ENST00000255746.4_Missense_Mutation_p.R42T	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	42	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						AATTTATATAGAGATGTGATG	0.383000													32	143					0	0	0.812448	0	0
BMP8A	353500	broad.mit.edu	37	1	39988106	39988106	+	Silent	SNP	C	C	G			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr1:39988106C>G	ENST00000331593.5	+	5	1246	c.900C>G	c.(898-900)gtC>gtG	p.V300V	RP11-69E11.4_ENST00000431553.1_RNA|RP11-69E11.4_ENST00000417869.1_RNA|RP11-69E11.4_ENST00000441741.1_RNA|RP11-69E11.4_ENST00000458207.1_RNA|RP11-69E11.4_ENST00000331856.2_RNA|RP11-69E11.4_ENST00000450157.1_RNA|RP11-69E11.4_ENST00000440190.1_RNA	NM_181809.3	NP_861525.2	Q7Z5Y6	BMP8A_HUMAN	bone morphogenetic protein 8a	300					cartilage development|cell differentiation|growth|ossification	extracellular space	cytokine activity|growth factor activity			kidney(1)|large_intestine(2)|lung(1)|skin(1)	5	Lung NSC(20;2.08e-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;9.69e-19)|Epithelial(16;9.34e-17)|all cancers(16;1.73e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GCCGGCAGGTCTGCCGTCGGC	0.577000													16	132					0	0	0.500413	0	0
ATP13A5	344905	broad.mit.edu	37	3	193048962	193048962	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr3:193048962G>A	ENST00000342358.4	-	12	1528	c.1411C>T	c.(1411-1413)Cca>Tca	p.P471S		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	471					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		ATTCTCTGTGGGGAGATACAG	0.458000													45	58					0	0	0.870114	0	0
SLC27A6	28965	broad.mit.edu	37	5	128359383	128359383	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr5:128359383G>T	ENST00000262462.4	+	6	2245	c.1235G>T	c.(1234-1236)tGg>tTg	p.W412L	SLC27A6_ENST00000395266.1_Missense_Mutation_p.W412L|SLC27A6_ENST00000506176.1_Missense_Mutation_p.W412L			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	412					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		GAGCAGGGTTGGTGTATTCAT	0.358000													11	40					7.03913e-09	7.88142e-09	0.411799	1	0
HHIPL1	84439	broad.mit.edu	37	14	100118878	100118878	+	Silent	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr14:100118878C>T	ENST00000330710.5	+	2	671	c.573C>T	c.(571-573)aaC>aaT	p.N191N	HHIPL1_ENST00000357223.2_Silent_p.N191N	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	191					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				AGGTGGCCAACGGGCTGCGCA	0.657000													5	37					0	0	0.217242	0	0
CCAR2	57805	broad.mit.edu	37	8	22464484	22464484	+	Missense_Mutation	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr8:22464484C>T	ENST00000308511.4	+	5	553	c.304C>T	c.(304-306)Cca>Tca	p.P102S	KIAA1967_ENST00000389279.3_Missense_Mutation_p.P102S|KIAA1967_ENST00000520861.1_5'UTR			Q8N163	K1967_HUMAN		102					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)		TGCATACAACCCAGGCCAGGC	0.562000													27	29					0	0	0.779181	0	0
REV3L	5980	broad.mit.edu	37	6	111631220	111631220	+	Missense_Mutation	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr6:111631220C>T	ENST00000435970.1	-	32	9460	c.8644G>A	c.(8644-8646)Gta>Ata	p.V2882I	REV3L_ENST00000462119.1_5'UTR|REV3L_ENST00000368802.3_Missense_Mutation_p.V2960I|REV3L_ENST00000368805.1_Missense_Mutation_p.V2960I|REV3L_ENST00000358835.3_Missense_Mutation_p.V2960I|RP5-1112D6.8_ENST00000607434.1_RNA			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2960					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)		ATAAGTGGTACTCCGGGGGTC	0.498000								DNA polymerases (catalytic subunits)					4	74					0	0	0.184627	0	0
DHX38	9785	broad.mit.edu	37	16	72130817	72130817	+	Silent	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr16:72130817G>T	ENST00000268482.3	+	3	929	c.420G>T	c.(418-420)cgG>cgT	p.R140R	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	140					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)				GGGAGCGGCGGGAACATGGTG	0.542000													45	143					9.58827e-17	1.19853e-16	0.870114	1	0
NUBP2	10101	broad.mit.edu	37	16	1836554	1836554	+	Silent	SNP	C	C	T	rs146719191		TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr16:1836554C>T	ENST00000262302.9	+	2	153	c.33C>T	c.(31-33)gcC>gcT	p.A11A	NUBP2_ENST00000565134.1_Silent_p.A11A|NUBP2_ENST00000565987.1_5'UTR|NUBP2_ENST00000543305.1_5'UTR|NUBP2_ENST00000568706.1_5'UTR	NM_012225.2	NP_036357.1	Q9Y5Y2	NUBP2_HUMAN	nucleotide binding protein 2	11						microtubule organizing center|nucleus	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						GAAACCTGGCCGGCGTCAGGC	0.642000													23	44					0	0	0.693898	0	0
SCN7A	6332	broad.mit.edu	37	2	167262609	167262609	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr2:167262609C>A	ENST00000409855.1	-	25	4656	c.4530G>T	c.(4528-4530)ttG>ttT	p.L1510F		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1510					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						CATCTTCACTCAAGGTCTTGT	0.348000													10	19					7.48243e-07	8.16832e-07	0.335167	1	0
OGDH	4967	broad.mit.edu	37	7	44739749	44739749	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr7:44739749G>A	ENST00000222673.5	+	19	2482	c.2440G>A	c.(2440-2442)Gaa>Aaa	p.E814K	OGDH_ENST00000439616.2_Missense_Mutation_p.E664K|OGDH_ENST00000543843.1_Missense_Mutation_p.E765K|OGDH_ENST00000444676.1_Missense_Mutation_p.E829K|OGDH_ENST00000449767.1_Missense_Mutation_p.E810K|OGDH_ENST00000447398.1_Missense_Mutation_p.E825K	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	814					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)	GGACCTTAAAGAAGCCAACTT	0.522000													39	157					0	0	0.870114	0	0
HIPK1	204851	broad.mit.edu	37	1	114508854	114508854	+	Missense_Mutation	SNP	C	C	G			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr1:114508854C>G	ENST00000369558.1	+	11	2573	c.2341C>G	c.(2341-2343)Cca>Gca	p.P781A	HIPK1_ENST00000426820.2_Missense_Mutation_p.P781A|HIPK1_ENST00000406344.1_Missense_Mutation_p.P387A|HIPK1_ENST00000369553.1_Missense_Mutation_p.P387A|HIPK1_ENST00000369555.2_Missense_Mutation_p.P736A|HIPK1_ENST00000369554.2_Missense_Mutation_p.P736A|HIPK1_ENST00000369559.4_Missense_Mutation_p.P781A|HIPK1_ENST00000369561.4_Missense_Mutation_p.P747A|HIPK1_ENST00000340480.4_Missense_Mutation_p.P407A			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	781					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)		AGCAATGATTCCAGAGGCCAT	0.567000													5	46					0	0	0.184627	0	0
KCNJ16	3773	broad.mit.edu	37	17	68129281	68129281	+	Silent	SNP	C	C	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr17:68129281C>A	ENST00000585558.1	+	4	1546	c.1158C>A	c.(1156-1158)ctC>ctA	p.L386L	KCNJ16_ENST00000392671.1_Silent_p.L351L|KCNJ16_ENST00000586462.1_Silent_p.L390L|KCNJ16_ENST00000589377.1_Silent_p.L351L|KCNJ16_ENST00000392670.1_Silent_p.L351L|KCNJ16_ENST00000283936.1_Silent_p.L351L			Q9NPI9	IRK16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	351					synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					ACCAGCAGCTCCACATAGAAA	0.478000													64	82					4.67498e-28	6.2877e-28	0.870114	1	0
NPAS4	266743	broad.mit.edu	37	11	66190010	66190010	+	Missense_Mutation	SNP	C	C	G			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr11:66190010C>G	ENST00000311034.2	+	3	592	c.416C>G	c.(415-417)tCt>tGt	p.S139C		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	139	PAS 1.				transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						ACCCTGCCCTCTGCCCTGGAC	0.602000													11	163					0	0	0.411799	0	0
FUT8	2530	broad.mit.edu	37	14	66208906	66208906	+	Silent	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr14:66208906G>A	ENST00000360689.5	+	11	3233	c.1506G>A	c.(1504-1506)caG>caA	p.Q502Q	FUT8_ENST00000394585.1_Silent_p.Q502Q|FUT8_ENST00000557164.1_Silent_p.Q339Q|FUT8_ENST00000358307.2_Silent_p.Q373Q|FUT8_ENST00000417683.1_Silent_p.Q96Q|FUT8_ENST00000394586.2_Silent_p.Q502Q	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	502	SH3.				in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		TTGGGGGCCAGAATGCCCACA	0.433000													26	131					0	0	0.706142	0	0
SETBP1	26040	broad.mit.edu	37	18	42530539	42530539	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr18:42530539G>T	ENST00000282030.5	+	4	1530	c.1234G>T	c.(1234-1236)Gat>Tat	p.D412Y		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	412						nucleus	DNA binding	p.D358Y(1)|p.D412Y(1)		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)		ACCCTCTCTGGATCCAACCAA	0.483000									Schinzel-Giedion syndrome				36	25					3.76114e-14	4.48733e-14	0.796494	1	0
TLL1	7092	broad.mit.edu	37	4	166978456	166978456	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr4:166978456G>T	ENST00000061240.2	+	14	2488	c.1841G>T	c.(1840-1842)tGt>tTt	p.C614F	TLL1_ENST00000507499.1_Missense_Mutation_p.C637F	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	614	EGF-like 1; calcium-binding (Potential).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		AGAAGGAGCTGTGAAGGTATG	0.512000													9	60					0.0477658	0.0483564	0.307466	1	0
CSMD1	64478	broad.mit.edu	37	8	3224677	3224677	+	Missense_Mutation	SNP	T	T	C			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr8:3224677T>C	ENST00000602557.1	-	21	3550	c.2995A>G	c.(2995-2997)Agg>Ggg	p.R999G	CSMD1_ENST00000602723.1_Missense_Mutation_p.R999G|CSMD1_ENST00000542608.1_Missense_Mutation_p.R998G|CSMD1_ENST00000539096.1_Missense_Mutation_p.R998G|CSMD1_ENST00000537824.1_Missense_Mutation_p.R998G|CSMD1_ENST00000520002.1_Missense_Mutation_p.R999G|CSMD1_ENST00000400186.3_Missense_Mutation_p.R999G			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	999	CUB 6.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCGGTGAGCCTGGCAACGGGC	0.473000													15	32					0	0	0.479597	0	0
SLC44A4	80736	broad.mit.edu	37	6	31844849	31844849	+	Silent	SNP	G	G	C			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr6:31844849G>C	ENST00000229729.6	-	2	71	c.51C>G	c.(49-51)gtC>gtG	p.V17V	SLC44A4_ENST00000375562.4_Silent_p.V17V|SLC44A4_ENST00000544672.1_5'UTR|SLC44A4_ENST00000465707.1_5'UTR	NM_025257.2	NP_079533.2	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	17						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)	GGTCGTATTTGACTGGCTTCC	0.592000													6	23					0	0	0.278610	0	0
UBE4A	9354	broad.mit.edu	37	11	118250165	118250165	+	Translation_Start_Site	SNP	C	C	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr11:118250165C>A	ENST00000545354.1	+	0	457				UBE4A_ENST00000431736.2_Missense_Mutation_p.H533N|UBE4A_ENST00000252108.3_Missense_Mutation_p.H526N			Q14139	UBE4A_HUMAN	ubiquitination factor E4A						ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		GGGCAGGTTGCATGATCAGAT	0.448000													46	205					6.27289e-28	8.40234e-28	0.870114	1	0
RNASE10	338879	broad.mit.edu	37	14	20979193	20979193	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr14:20979193C>A	ENST00000430083.1	+	2	1051	c.647C>A	c.(646-648)cCt>cAt	p.P216H	RNASE10_ENST00000328444.5_Missense_Mutation_p.P188H			Q5GAN6	RNS10_HUMAN	ribonuclease, RNase A family, 10 (non-active)	188						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	12	all_cancers(95;0.00123)		Epithelial(56;1.81e-07)|all cancers(55;1.86e-06)	GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191)		CAGGTCACTCCTAACTGCAAT	0.438000													22	67					1.55795e-14	1.87929e-14	0.608945	1	0
ARHGEF10	9639	broad.mit.edu	37	8	1853834	1853834	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr8:1853834G>A	ENST00000518288.1	+	18	2154	c.1991G>A	c.(1990-1992)cGa>cAa	p.R664Q	ARHGEF10_ENST00000520359.1_Missense_Mutation_p.R602Q|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.R665Q|ARHGEF10_ENST00000398564.1_Missense_Mutation_p.R665Q|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.R640Q			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	665					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	kinesin binding|Rho guanyl-nucleotide exchange factor activity			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)		AAAGAACGCCGAGTCTTCATG	0.413000													23	111					0	0	0.654019	0	0
KCNA6	3742	broad.mit.edu	37	12	4919345	4919345	+	Silent	SNP	T	T	C			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr12:4919345T>C	ENST00000433855.1	+	1	1004	c.138T>C	c.(136-138)aaT>aaC	p.N46N	KCNA6_ENST00000280684.3_Silent_p.N46N	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	46						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						TGGTGATCAATATCTCCGGGC	0.677000										HNSCC(72;0.22)			13	53					0	0	0.457914	0	0
ZNF234	10780	broad.mit.edu	37	19	44661343	44661343	+	Nonsense_Mutation	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr19:44661343G>T	ENST00000426739.2	+	6	1432	c.1174G>T	c.(1174-1176)Gga>Tga	p.G392*	ZNF234_ENST00000592437.1_Nonsense_Mutation_p.G392*	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	392					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)				GGCCCATCAGGGAGTCCACAC	0.448000													25	47					3.65163e-15	4.46234e-15	0.706142	1	0
PLK2	10769	broad.mit.edu	37	5	57753390	57753390	+	Missense_Mutation	SNP	T	T	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr5:57753390T>A	ENST00000274289.3	-	6	1034	c.734A>T	c.(733-735)aAt>aTt	p.N245I	PLK2_ENST00000502671.1_5'UTR	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	245	Protein kinase.				positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		AGAGAGATAATTTGGGGTACC	0.403000													19	60					0	0	0.624587	0	0
RASSF6	166824	broad.mit.edu	37	4	74477493	74477493	+	Missense_Mutation	SNP	T	T	C			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr4:74477493T>C	ENST00000307439.5	-	2	314	c.20A>G	c.(19-21)cAg>cGg	p.Q7R	RASSF6_ENST00000342081.3_Missense_Mutation_p.Q39R|RASSF6_ENST00000335049.5_Intron|RASSF6_ENST00000512591.1_5'UTR|RASSF6_ENST00000395777.2_Missense_Mutation_p.Q7R	NM_001270391.1|NM_177532.4	NP_001257320.1|NP_803876.1	Q6ZTQ3	RASF6_HUMAN	Ras association (RalGDS/AF-6) domain family member 6	39					apoptosis|signal transduction		protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			AGAGGGGTACTGGTGAGCCAT	0.353000													54	102					0	0	0.870114	0	0
ATP5J2-PTCD1	100526740	broad.mit.edu	37	7	99057711	99057711	+	Missense_Mutation	SNP	C	C	G			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr7:99057711C>G	ENST00000413834.1	-	2	141	c.119G>C	c.(118-120)aGa>aCa	p.R40T	ATP5J2_ENST00000466753.1_Intron|ATP5J2_ENST00000488775.1_Missense_Mutation_p.R40T|ATP5J2_ENST00000449683.1_Missense_Mutation_p.R50T|ATP5J2_ENST00000292475.3_Missense_Mutation_p.R46T|ATP5J2_ENST00000359832.4_Missense_Mutation_p.R46T|PTCD1_ENST00000555673.1_Missense_Mutation_p.R40T|ATP5J2_ENST00000394186.3_Missense_Mutation_p.R40T|ATP5J2_ENST00000544611.1_Missense_Mutation_p.R40T			B4DJ38	B4DJ38_HUMAN		40																	GCTCTGACCTCTTTGAAACGC	0.463000													10	637					0	0	0.335167	0	0
SLC6A5	9152	broad.mit.edu	37	11	20628605	20628605	+	Silent	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr11:20628605C>T	ENST00000525748.1	+	4	1005	c.732C>T	c.(730-732)atC>atT	p.I244I		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	244					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	GATTACCCATCTTCTTCTTGG	0.572000													3	95					0	0	0.115264	0	0
DAB2	1601	broad.mit.edu	37	5	39392557	39392557	+	Silent	SNP	C	C	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr5:39392557C>A	ENST00000545653.1	-	4	770	c.240G>T	c.(238-240)gcG>gcT	p.A80A	DAB2_ENST00000320816.6_Silent_p.A80A|DAB2_ENST00000339788.6_Silent_p.A80A|DAB2_ENST00000509337.1_Silent_p.A80A	NM_001244871.1	NP_001231800.1	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	80	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 proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	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)			GACCAGCTGCCGCCATTCCCT	0.378000													43	53					1.21353e-23	1.5834e-23	0.870114	1	0
IGHV3-16	28447	broad.mit.edu	37	14	106622221	106622221	+	RNA	SNP	G	G	C			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr14:106622221G>C	ENST00000390604.2	-	0	120																											AGACACCCTGGTCAGAAACTG	0.507000													89	96					0	0	0.870114	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37508156	37508156	+	Missense_Mutation	SNP	A	A	G			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr10:37508156A>G	ENST00000374660.1	+	40	3804	c.3705A>G	c.(3703-3705)atA>atG	p.I1235M	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.I1116M|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.I1116M			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1172						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						AAGTTCTGATAGCTGAGAACA	0.373000													31	253					0	0	0.769981	0	0
XYLT1	64131	broad.mit.edu	37	16	17211518	17211518	+	Nonsense_Mutation	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr16:17211518G>A	ENST00000261381.6	-	11	2626	c.2542C>T	c.(2542-2544)Cag>Tag	p.Q848*		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	848					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TTGATGGGCTGCCTGTTCGAG	0.557000													6	54					0	0	0.335167	0	0
KCNC2	3747	broad.mit.edu	37	12	75601680	75601680	+	Silent	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr12:75601680G>T	ENST00000549446.1	-	2	764	c.84C>A	c.(82-84)acC>acA	p.T28T	KCNC2_ENST00000298972.1_Silent_p.T28T|KCNC2_ENST00000550433.1_Silent_p.T28T|KCNC2_ENST00000540018.1_Silent_p.T28T|KCNC2_ENST00000350228.2_Silent_p.T28T|KCNC2_ENST00000341669.3_Silent_p.T28T|KCNC2_ENST00000393288.2_Silent_p.T28T|KCNC2_ENST00000548513.1_Silent_p.T28T	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	28					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						TTCCAGGCAGGGTCTTGAGGG	0.637000													27	27					3.65163e-15	4.46234e-15	0.706142	1	0
ZNF271P	10778	broad.mit.edu	37	18	32887376	32887376	+	RNA	SNP	C	C	G			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr18:32887376C>G	ENST00000399070.3	+	0	1770					NR_024565.1|NR_024566.1															large_intestine(3)|lung(9)	12						AGTCAGATCTCAGACCTCATT	0.433000													26	55					0	0	0.717897	0	0
HDAC4	9759	broad.mit.edu	37	2	240036884	240036884	+	Missense_Mutation	SNP	C	C	G			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr2:240036884C>G	ENST00000345617.3	-	13	2432	c.1641G>C	c.(1639-1641)caG>caC	p.Q547H	HDAC4_ENST00000543185.1_Missense_Mutation_p.Q131H|HDAC4_ENST00000541256.1_Missense_Mutation_p.Q521H	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	547					B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GCGCCTCCTTCTGCCCCGGCA	0.711000													11	121					0	0	0.411799	0	0
OR51A7	119687	broad.mit.edu	37	11	4929447	4929447	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr11:4929447C>A	ENST00000359350.4	+	1	848	c.848C>A	c.(847-849)cCg>cAg	p.P283Q	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P283L(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTGTTGGTGCCGCCCCTTATG	0.453000													43	57					1.06522e-23	1.39265e-23	0.864702	1	0
TENM1	10178	broad.mit.edu	37	X	123838900	123838900	+	Missense_Mutation	SNP	G	G	C			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chrX:123838900G>C	ENST00000422452.2	-	5	1041	c.978C>G	c.(976-978)atC>atG	p.I326M	TENM1_ENST00000371130.3_Missense_Mutation_p.I326M	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		AAGTCACTGTGATTGCAGTGG	0.463000													111	106					0	0	0.870114	0	0
CLTC	1213	broad.mit.edu	37	17	57754355	57754355	+	Missense_Mutation	SNP	G	G	C			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr17:57754355G>C	ENST00000269122.3	+	17	2876	c.2602G>C	c.(2602-2604)Gag>Cag	p.E868Q	CLTC_ENST00000579456.1_Intron|CLTC_ENST00000579815.1_3'UTR|CLTC_ENST00000393043.1_Missense_Mutation_p.E868Q	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	868	Heavy chain arm.|Proximal segment.				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)					CAGAATTCATGAGGGCTGTGA	0.408000			T	"""ALK, TFE3"""	"""ALCL, renal """								15	56					0	0	0.500413	0	0
ADAM23	8745	broad.mit.edu	37	2	207310034	207310034	+	Missense_Mutation	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr2:207310034C>T	ENST00000264377.3	+	2	546	c.218C>T	c.(217-219)cCg>cTg	p.P73L	ADAM23_ENST00000374415.3_Missense_Mutation_p.P73L|ADAM23_ENST00000374416.1_Missense_Mutation_p.P73L	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	73					cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			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)		CCACCAGCTCCGCATTGGAAT	0.403000													8	74					0	0	0.335167	0	0
VAV3	10451	broad.mit.edu	37	1	108116693	108116693	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr1:108116693C>A	ENST00000370056.4	-	26	2752	c.2478G>T	c.(2476-2478)tgG>tgT	p.W826C	VAV3_ENST00000544443.1_Missense_Mutation_p.W230C|VAV3_ENST00000415432.2_Missense_Mutation_p.W266C|VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000527011.1_Missense_Mutation_p.W854C	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	826	SH3 2.				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		CTCCTCTCCACCAGCCATTTG	0.488000													90	179					1.79411e-48	2.56581e-48	0.870114	1	0
MGAM	8972	broad.mit.edu	37	7	141708454	141708454	+	Silent	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr7:141708454G>A	ENST00000475668.2	+	3	330	c.276G>A	c.(274-276)gtG>gtA	p.V92V	MGAM_ENST00000549489.2_Silent_p.V92V			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	92	P-type 1.				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)	AATGTCCAGTGGTAAATGAAT	0.443000													36	97					0	0	0.847076	0	0
NT5C1B	93034	broad.mit.edu	37	2	18765488	18765488	+	Missense_Mutation	SNP	A	A	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr2:18765488A>T	ENST00000304081.4	-	5	857	c.757T>A	c.(757-759)Tca>Aca	p.S253T	NT5C1B_ENST00000600945.1_Missense_Mutation_p.S313T|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.S313T|NT5C1B_ENST00000359846.2_Missense_Mutation_p.S313T	NM_033253.3	NP_150278.2			5'-nucleotidase, cytosolic IB											endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				GCGCAGGATGAGAGAGCAATG	0.537000													48	232					0	0	0.870114	0	0
NOTUM	147111	broad.mit.edu	37	17	79918634	79918634	+	Missense_Mutation	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr17:79918634C>T	ENST00000409678.3	-	1	535	c.152G>A	c.(151-153)aGc>aAc	p.S51N		NM_178493.5	NP_848588.3	Q6P988	NOTUM_HUMAN	notum pectinacetylesterase homolog (Drosophila)	51						extracellular region	hydrolase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	15	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			CAGCGGGAAGCTCTCCACGGG	0.726000													6	11					0	0	0.217242	0	0
PLXNA4	91584	broad.mit.edu	37	7	131910976	131910976	+	Silent	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr7:131910976G>A	ENST00000359827.3	-	8	2888	c.1926C>T	c.(1924-1926)acC>acT	p.T642T	PLXNA4_ENST00000321063.4_Silent_p.T642T			Q9HCM2	PLXA4_HUMAN	plexin A4	642						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						AGGTCATGCCGGTCTCCTTTG	0.562000													34	243					0	0	0.834066	0	0
KLK15	55554	broad.mit.edu	37	19	51330410	51330410	+	Missense_Mutation	SNP	T	T	C			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr19:51330410T>C	ENST00000326856.4	-	4	331	c.202A>G	c.(202-204)Aga>Gga	p.R68G	KLK15_ENST00000596931.1_Missense_Mutation_p.R68G|KLK15_ENST00000416184.1_Missense_Mutation_p.R69G|KLK15_ENST00000598239.1_Missense_Mutation_p.R69G|KLK15_ENST00000301421.2_Missense_Mutation_p.R69G	NM_001277081.1	NP_001264010.1	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	69	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		AGGCGCACTCTCATGAAGCTG	0.622000													28	77					0	0	0.681144	0	0
SCN10A	6336	broad.mit.edu	37	3	38770310	38770310	+	Missense_Mutation	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr3:38770310C>T	ENST00000449082.2	-	15	2362	c.2363G>A	c.(2362-2364)gGg>gAg	p.G788E		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	788					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GGTGAGGTTCCCCAGTGCCCC	0.502000													70	43					0	0	0.870114	0	0
ENAH	55740	broad.mit.edu	37	1	225700578	225700578	+	Silent	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr1:225700578G>A	ENST00000366844.2	-	8	1810	c.1359C>T	c.(1357-1359)gcC>gcT	p.A453A	ENAH_ENST00000284563.6_Silent_p.A700A|ENAH_ENST00000366843.2_Silent_p.A453A	NM_001008493.1	NP_001008493.1	Q8N8S7	ENAH_HUMAN	enabled homolog (Drosophila)	453	EVH2 block B.|EVH2.				axon guidance|intracellular transport|T cell receptor signaling pathway	cytosol|filopodium|focal adhesion|lamellipodium|synapse	actin binding|SH3 domain binding|WW domain binding			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		CTTACCTCCTGGCCAGCAGGG	0.433000													36	89					0	0	0.812448	0	0
FREM1	158326	broad.mit.edu	37	9	14863888	14863888	+	Missense_Mutation	SNP	T	T	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr9:14863888T>A	ENST00000380881.4	-	4	1063	c.248A>T	c.(247-249)cAt>cTt	p.H83L	FREM1_ENST00000380880.3_Missense_Mutation_p.H83L|FREM1_ENST00000422223.2_Missense_Mutation_p.H83L			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	83					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)		GGGAAGGAAATGGCAGTCAAA	0.408000													5	39					0	0	0.217242	0	0
OGDHL	55753	broad.mit.edu	37	10	50954894	50954894	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr10:50954894C>A	ENST00000374103.4	-	10	1283	c.1198G>T	c.(1198-1200)Gcc>Tcc	p.A400S	OGDHL_ENST00000419399.1_Missense_Mutation_p.A343S|OGDHL_ENST00000432695.1_Missense_Mutation_p.A191S	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	400					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.A400T(3)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						CCAGCAAAGGCGGCGTCCCCA	0.632000													29	38					2.2171e-23	2.88135e-23	0.740014	1	0
OR11H1	81061	broad.mit.edu	37	22	16449670	16449670	+	Silent	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr22:16449670G>T	ENST00000252835.4	-	1	135	c.135C>A	c.(133-135)ctC>ctA	p.L45L		NM_001005239.1	NP_001005239.1	Q8NG94	O11H1_HUMAN	olfactory receptor, family 11, subfamily H, member 1	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)	11	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.208)		Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211)		TTGTAGTAAAGAGTGAGAAGA	0.428000													56	180					3.08104e-76	4.47468e-76	0.870114	1	0
MAGEE1	57692	broad.mit.edu	37	X	75648966	75648966	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chrX:75648966G>T	ENST00000361470.2	+	1	921	c.643G>T	c.(643-645)Gcc>Tcc	p.A215S		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	215	Pro-rich.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CGTGCCGCTCGCCGCCACTGA	0.692000													10	10					3.86212e-05	4.08014e-05	0.361761	1	0
AC015849.16	0	broad.mit.edu	37	17	34235995	34235995	+	RNA	SNP	C	C	G			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr17:34235995C>G	ENST00000587132.1	-	0	2032																											GTGGATGTGTCATTTCAGGAT	0.468000													19	112					0	0	0.624587	0	0
ZNF90	7643	broad.mit.edu	37	19	20229235	20229235	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr19:20229235G>A	ENST00000418063.2	+	4	984	c.872G>A	c.(871-873)gGc>gAc	p.G291D	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	291						Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|lung(2)|ovary(1)|skin(1)	5						GATAAATGTGGCAGAGCATTT	0.373000													6	21					0	0	0.248553	0	0
CDH23	64072	broad.mit.edu	37	10	73544672	73544672	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr10:73544672G>A	ENST00000224721.6	+	42	5547	c.5542G>A	c.(5542-5544)Gac>Aac	p.D1848N		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1843	Cadherin 17.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CCGGGTGCTGGACATCAACGA	0.597000													14	76					0	0	0.539581	0	0
TRBV3-1	28619	broad.mit.edu	37	7	142008629	142008629	+	RNA	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr7:142008629G>T	ENST00000390387.3	+	0	149																											TCACACAGATGGGAAACGACA	0.423000													43	39					2.59497e-14	3.11873e-14	0.834066	1	0
CCDC108	255101	broad.mit.edu	37	2	219892501	219892501	+	Silent	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr2:219892501G>A	ENST00000341552.5	-	13	2165	c.2082C>T	c.(2080-2082)tgC>tgT	p.C694C	CCDC108_ENST00000410037.1_Silent_p.C629C|CCDC108_ENST00000409865.3_Silent_p.C683C|CCDC108_ENST00000453220.1_Silent_p.C694C|CCDC108_ENST00000441968.1_Silent_p.C694C	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	694						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)		CCCAGAAGGGGCAGTCAGACC	0.637000													35	52					0	0	0.760397	0	0
SLITRK3	22865	broad.mit.edu	37	3	164907502	164907502	+	Missense_Mutation	SNP	A	A	C			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr3:164907502A>C	ENST00000475390.1	-	2	1560	c.1117T>G	c.(1117-1119)Tgc>Ggc	p.C373G	SLITRK3_ENST00000241274.3_Missense_Mutation_p.C373G			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	373	LRRNT.					integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CCAGTGGGGCATATAATGGGG	0.478000										HNSCC(40;0.11)			6	202					0	0	0.217242	0	0
FOLH1B	219595	broad.mit.edu	37	11	89403578	89403578	+	RNA	SNP	A	A	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr11:89403578A>T	ENST00000532352.1	+	0	929							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						ATGCACATCCACTCTACCAAT	0.348000													30	136					0	0	0.796494	0	0
LRRC30	339291	broad.mit.edu	37	18	7231778	7231778	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr18:7231778C>A	ENST00000383467.2	+	1	656	c.642C>A	c.(640-642)ttC>ttA	p.F214L		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	214										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						TGCAGATCTTCATCGCAGAGG	0.557000													29	48					3.99451e-17	5.01227e-17	0.740014	1	0
CCDC158	339965	broad.mit.edu	37	4	77303824	77303824	+	Missense_Mutation	SNP	C	C	G			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr4:77303824C>G	ENST00000388914.3	-	7	1005	c.853G>C	c.(853-855)Gag>Cag	p.E285Q	CCDC158_ENST00000434846.2_Missense_Mutation_p.E285Q	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	285										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						CTAGCTTTCTCAGTAAGTCCT	0.353000													16	89					0	0	0.557998	0	0
CAD	790	broad.mit.edu	37	2	27445767	27445767	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr2:27445767G>T	ENST00000264705.4	+	6	833	c.671G>T	c.(670-672)gGt>gTt	p.G224V	CAD_ENST00000403525.1_Missense_Mutation_p.G224V	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	224	GATase (Glutamine amidotransferase).|Glutamine amidotransferase type-1.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	AATGGGCCTGGTGACCCTGCC	0.507000													25	196					2.08457e-15	2.56653e-15	0.750413	1	0
ZNF184	7738	broad.mit.edu	37	6	27420263	27420263	+	Missense_Mutation	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr6:27420263C>T	ENST00000211936.6	-	6	1359	c.1075G>A	c.(1075-1077)Gaa>Aaa	p.E359K	ZNF184_ENST00000377419.1_Missense_Mutation_p.E359K	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	359				E -> G (in Ref. 4; AAC51180).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						AAAGGTTTTTCTCCCGTATGA	0.378000													8	66					0	0	0.335167	0	0
NLRP3	114548	broad.mit.edu	37	1	247588839	247588839	+	Silent	SNP	C	C	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr1:247588839C>A	ENST00000366497.2	+	4	2874	c.2094C>A	c.(2092-2094)ggC>ggA	p.G698G	NLRP3_ENST00000391827.2_Silent_p.G698G|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000336119.3_Silent_p.G698G|NLRP3_ENST00000366496.2_Silent_p.G698G|NLRP3_ENST00000348069.2_Silent_p.G698G|NLRP3_ENST00000391828.3_Silent_p.G698G	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	698					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			AAAAGGAAGGCCGACACCTTG	0.527000													35	38					2.95478e-19	3.75802e-19	0.840704	1	0
TRIOBP	11078	broad.mit.edu	37	22	38119561	38119561	+	Missense_Mutation	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr22:38119561C>T	ENST00000406386.3	+	7	1253	c.998C>T	c.(997-999)tCa>tTa	p.S333L	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	333					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CCCAGGGCCTCATCTACACAG	0.597000													32	181					0	0	0.769981	0	0
OR6K2	81448	broad.mit.edu	37	1	158670347	158670347	+	Silent	SNP	G	G	C			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr1:158670347G>C	ENST00000359610.2	-	1	139	c.96C>G	c.(94-96)ctC>ctG	p.L32L		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	32					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)					CATAGATGAAGAGCAGTGGAA	0.453000													25	111					0	0	0.706142	0	0
RNASEL	6041	broad.mit.edu	37	1	182554744	182554744	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr1:182554744G>T	ENST00000367559.3	-	2	1451	c.1198C>A	c.(1198-1200)Cgt>Agt	p.R400S	RNASEL_ENST00000444138.1_Missense_Mutation_p.R400S|RNASEL_ENST00000539397.1_Missense_Mutation_p.R400S	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	400	Protein kinase.				mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						CGCTGTGCACGTGGGCTGCCC	0.498000													60	160					3.84483e-29	5.19251e-29	0.870114	1	0
F5	2153	broad.mit.edu	37	1	169510906	169510906	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr1:169510906G>T	ENST00000367796.3	-	13	3638	c.3437C>A	c.(3436-3438)aCt>aAt	p.T1146N	F5_ENST00000367797.3_Missense_Mutation_p.T1141N			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1141	B.		H -> Q (in dbSNP:rs6005).		cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GGGGTCTGAAGTAGAGTGCAT	0.483000													101	212					2.90702e-44	4.12142e-44	0.870114	1	0
DIAPH3	81624	broad.mit.edu	37	13	60686168	60686168	+	Silent	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr13:60686168G>A	ENST00000400324.4	-	3	586	c.366C>T	c.(364-366)ctC>ctT	p.L122L	DIAPH3_ENST00000400319.1_Intron|DIAPH3_ENST00000400320.1_Silent_p.L111L|DIAPH3_ENST00000400330.1_Silent_p.L122L|DIAPH3_ENST00000377908.2_Silent_p.L111L|DIAPH3_ENST00000267215.4_Silent_p.L122L	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	122	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AAAGTTCTAAGAGTTCATTCT	0.383000													25	97					0	0	0.667858	0	0
KIAA1009	22832	broad.mit.edu	37	6	84904635	84904635	+	Nonsense_Mutation	SNP	C	C	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr6:84904635C>A	ENST00000403245.3	-	10	1108	c.994G>T	c.(994-996)Gag>Tag	p.E332*	KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Nonsense_Mutation_p.E256*	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN	KIAA1009	332					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		TTTGAATTCTCTTCATTTTCT	0.308000													10	15					1.08611e-07	1.19764e-07	0.387290	1	0
GAA	2548	broad.mit.edu	37	17	78085838	78085838	+	Missense_Mutation	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr17:78085838C>T	ENST00000302262.3	+	12	1912	c.1693C>T	c.(1693-1695)Ctc>Ttc	p.L565F	GAA_ENST00000390015.3_Missense_Mutation_p.L565F	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	565					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	CCACCAGTTTCTCTCCACACA	0.667000													22	114					0	0	0.681144	0	0
JAG1	182	broad.mit.edu	37	20	10632894	10632894	+	Silent	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr20:10632894G>A	ENST00000254958.5	-	7	1406	c.891C>T	c.(889-891)ctC>ctT	p.L297L	JAG1_ENST00000423891.2_Silent_p.L138L	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	297	EGF-like 3.				angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						CACAGTAATTGAGATCTGCCA	0.493000									Alagille Syndrome				5	23					0	0	0.217242	0	0
ALX1	8092	broad.mit.edu	37	12	85695119	85695119	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr12:85695119G>T	ENST00000316824.3	+	4	1002	c.847G>T	c.(847-849)Gac>Tac	p.D283Y		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	283					brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		TTTTTTCACTGACTCTCTTCT	0.468000													9	90					2.17888e-05	2.31307e-05	0.335167	1	0
CDK17	5128	broad.mit.edu	37	12	96674563	96674563	+	Missense_Mutation	SNP	G	G	C			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr12:96674563G>C	ENST00000543119.2	-	16	2080	c.1557C>G	c.(1555-1557)ttC>ttG	p.F519L	CDK17_ENST00000542666.1_Missense_Mutation_p.F466L|CDK17_ENST00000261211.3_Intron			Q00537	CDK17_HUMAN	cyclin-dependent kinase 17	0							ATP binding|cyclin-dependent protein kinase activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						ATCGACACGTGAAATGGTTTA	0.353000													7	44					0	0	0.307466	0	0
NPR3	4883	broad.mit.edu	37	5	32712513	32712513	+	Missense_Mutation	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr5:32712513C>T	ENST00000265074.8	+	1	974	c.631C>T	c.(631-633)Cgg>Tgg	p.R211W	NPR3_ENST00000434067.2_Intron|NPR3_ENST00000415685.2_Intron|NPR3_ENST00000415167.2_Missense_Mutation_p.R211W	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	211					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)	CAAGCTGGAGCGGAACTGCTA	0.612000													39	76					0	0	0.812448	0	0
NBPF1	55672	broad.mit.edu	37	1	16895660	16895660	+	Missense_Mutation	SNP	A	A	G			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr1:16895660A>G	ENST00000430580.2	-	23	3409	c.2522T>C	c.(2521-2523)aTt>aCt	p.I841T	NBPF1_ENST00000420031.2_3'UTR|NBPF1_ENST00000287968.8_3'UTR|NBPF1_ENST00000432949.1_Intron	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	841	NBPF 4.					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)		TTCAGGAGGAATTGAGAGAGT	0.507000													54	550					0	0	0.870114	0	0
SCN1A	6323	broad.mit.edu	37	2	166896071	166896071	+	Silent	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr2:166896071C>T	ENST00000423058.2	-	14	2468	c.2451G>A	c.(2449-2451)ctG>ctA	p.L817L	SCN1A_ENST00000375405.3_Silent_p.L806L|SCN1A_ENST00000303395.4_Silent_p.L817L|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Silent_p.L789L	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	817						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)	CAATAATTTTCAGAAACATTT	0.358000													17	49					0	0	0.539581	0	0
C3orf20	84077	broad.mit.edu	37	3	14768452	14768452	+	Missense_Mutation	SNP	G	G	C			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr3:14768452G>C	ENST00000253697.3	+	11	2063	c.1611G>C	c.(1609-1611)atG>atC	p.M537I	C3orf20_ENST00000435614.1_Missense_Mutation_p.M415I|C3orf20_ENST00000412910.1_Missense_Mutation_p.M415I	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	537						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						TGTATAAGATGAGCCGAGCCC	0.547000													35	53					0	0	0.779181	0	0
TP53	7157	broad.mit.edu	37	17	7578413	7578413	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr17:7578413C>A	ENST00000420246.2	-	5	649	c.517G>T	c.(517-519)Gtg>Ttg	p.V173L	TP53_ENST00000413465.2_Missense_Mutation_p.V173L|TP53_ENST00000455263.2_Missense_Mutation_p.V173L|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.V173L|TP53_ENST00000269305.4_Missense_Mutation_p.V173L|TP53_ENST00000445888.2_Missense_Mutation_p.V173L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	173	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V173L(68)|p.V173M(46)|p.0?(8)|p.V80L(6)|p.V41L(6)|p.V173fs*1(4)|p.V80M(3)|p.V41M(3)|p.V173fs*59(2)|p.V157_C176del20(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.E171fs*1(1)|p.V173W(1)|p.V173fs*8(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(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)		CAGCGCCTCACAACCTCCGTC	0.662000		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)			22	30					9.95505e-16	1.23029e-15	0.624587	1	0
PRUNE2	158471	broad.mit.edu	37	9	79325044	79325044	+	Missense_Mutation	SNP	A	A	G			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr9:79325044A>G	ENST00000428286.1	-	8	2269	c.1069T>C	c.(1069-1071)Tgg>Cgg	p.W357R	PRUNE2_ENST00000376718.3_Missense_Mutation_p.W716R			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	716					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TCAGACTCCCAGGGACCTGAC	0.463000													12	11					0	0	0.387290	0	0
PCK1	5105	broad.mit.edu	37	20	56138115	56138115	+	Silent	SNP	G	G	A	rs138176491		TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr20:56138115G>A	ENST00000319441.4	+	5	806	c.642G>A	c.(640-642)ccG>ccA	p.P214P	PCK1_ENST00000535860.1_Silent_p.P82P|PCK1_ENST00000543666.1_Intron	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	214					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CCTGCAACCCGGAGCTGACGC	0.627000													31	53					0	0	0.760397	0	0
UBBP4	23666	broad.mit.edu	37	17	21731312	21731312	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr17:21731312C>A	ENST00000584755.1	+	2	1011	c.614C>A	c.(613-615)gCg>gAg	p.A205E	UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Intron																endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						TGGAAGATGGCGGTACTCTTT	0.517000													60	35					7.62596e-35	1.06051e-34	0.870114	1	0
C1orf65	164127	broad.mit.edu	37	1	223567450	223567450	+	Silent	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr1:223567450G>A	ENST00000366875.3	+	1	736	c.633G>A	c.(631-633)aaG>aaA	p.K211K		NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN	chromosome 1 open reading frame 65	211										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		GCGCCCAGAAGAGAGACAGCA	0.612000													43	187					0	0	0.870114	0	0
PSPC1	55269	broad.mit.edu	37	13	20346444	20346444	+	Silent	SNP	T	T	C			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr13:20346444T>C	ENST00000338910.4	-	2	771	c.612A>G	c.(610-612)gcA>gcG	p.A204A		NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN	paraspeckle component 1	204	RRM 2.|Sufficient for paraspeckles localization.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	nucleotide binding|protein binding|RNA 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)		GAGGTTTTGCTGCAAACTCTA	0.433000													20	50					0	0	0.624587	0	0
SF3B1	23451	broad.mit.edu	37	2	198266713	198266713	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr2:198266713C>A	ENST00000335508.5	-	15	2310	c.2219G>T	c.(2218-2220)gGa>gTa	p.G740V		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	740					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	p.G740E(1)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			ATTTACCTTTCCTCTGTGTTG	0.343000			Mis		myelodysplastic syndrome								17	47					1.33834e-09	1.51663e-09	0.557998	1	0
RET	5979	broad.mit.edu	37	10	43613825	43613825	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr10:43613825C>A	ENST00000355710.3	+	13	2521	c.2289C>A	c.(2287-2289)aaC>aaA	p.N763K	RET_ENST00000340058.5_Missense_Mutation_p.N763K	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	763	Protein kinase.				homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	p.N763N(1)	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)	TTTCAGAGAACGCCTCCCCGA	0.567000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				8	21					5.18039e-06	5.57169e-06	0.278610	1	0
NTNG2	84628	broad.mit.edu	37	9	135102405	135102405	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr9:135102405G>A	ENST00000393229.3	+	4	1803	c.1027G>A	c.(1027-1029)Gcc>Acc	p.A343T	NTNG2_ENST00000360670.3_Missense_Mutation_p.A343T|NTNG2_ENST00000372179.3_Missense_Mutation_p.A343T|NTNG2_ENST00000393228.4_Missense_Mutation_p.A343T	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	343	Laminin EGF-like 1.				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)		CTCTCCCAACGCCTGTACGTG	0.637000													10	22					0	0	0.457914	0	0
BTNL2	56244	broad.mit.edu	37	6	32370751	32370751	+	Missense_Mutation	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr6:32370751C>T	ENST00000454136.3	-	3	674	c.670G>A	c.(670-672)Gtc>Atc	p.V224I	BTNL2_ENST00000414363.1_Intron|BTNL2_ENST00000429232.2_Intron|BTNL2_ENST00000374995.3_Intron|BTNL2_ENST00000374993.1_Missense_Mutation_p.V224I|BTNL2_ENST00000544175.1_Intron|BTNL2_ENST00000540315.1_Intron			Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	224	Ig-like V-type 2.					integral to membrane		p.V224I(1)		central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						TCAGTGAGGACGGGGTTGTGG	0.592000													7	57					0	0	0.307466	0	0
KRT34	3885	broad.mit.edu	37	17	39538415	39538415	+	Silent	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr17:39538415G>A	ENST00000394001.1	-	1	240	c.210C>T	c.(208-210)ggC>ggT	p.G70G		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	70	Head.				epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				GCAGGGTGTAGCCGTGGCAGC	0.622000													6	283					0	0	0.248553	0	0
BEX1	55859	broad.mit.edu	37	X	102317843	102317843	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chrX:102317843C>A	ENST00000372728.3	-	3	599	c.360G>T	c.(358-360)gaG>gaT	p.E120D		NM_018476.3	NP_060946.3	Q9HBH7	BEX1_HUMAN	brain expressed, X-linked 1	120					cell differentiation|nervous system development	cytoplasm|nucleus				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12						TAAGGCAAAACTCATCATGAT	0.473000													48	117					2.17126e-26	2.89648e-26	0.870114	1	0
CADM3	57863	broad.mit.edu	37	1	159163693	159163693	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr1:159163693G>T	ENST00000368125.4	+	5	711	c.554G>T	c.(553-555)gGt>gTt	p.G185V	CADM3_ENST00000368124.4_Missense_Mutation_p.G219V	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	185	Ig-like C2-type 1.				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					GATCCCAATGGTAAAACCTTC	0.498000													7	88					1.12685e-05	1.2021e-05	0.307466	1	0
STON2	85439	broad.mit.edu	37	14	81744487	81744487	+	Missense_Mutation	SNP	T	T	C			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr14:81744487T>C	ENST00000555447.1	-	6	1580	c.1168A>G	c.(1168-1170)Att>Gtt	p.I390V	STON2_ENST00000267540.2_Missense_Mutation_p.I390V	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN	stonin 2	390					endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		GGGTCATCAATTTGGAGTTGT	0.468000													15	57					0	0	0.457914	0	0
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	by1000genomes	TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T														p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358000													8	86					0	0	0.361761	0	0
IL1RL1	9173	broad.mit.edu	37	2	102958727	102958727	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr2:102958727C>A	ENST00000311734.2	+	6	994	c.655C>A	c.(655-657)Caa>Aaa	p.Q219K	IL1RL1_ENST00000233954.1_Missense_Mutation_p.Q219K|IL1RL1_ENST00000409584.1_Missense_Mutation_p.Q219K|IL1RL1_ENST00000404917.2_Missense_Mutation_p.Q102K			Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	219	Ig-like C2-type 3.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						AGCCCCTGCACAAAATGAAAT	0.348000													14	64					5.03518e-11	5.82693e-11	0.557998	1	0
PSG8	440533	broad.mit.edu	37	19	43268358	43268358	+	Missense_Mutation	SNP	T	T	G			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr19:43268358T>G	ENST00000404209.4	-	2	236	c.140A>C	c.(139-141)gAg>gCg	p.E47A	PSG8_ENST00000306511.4_Missense_Mutation_p.E47A|PSG8_ENST00000406636.3_Intron|PSG8_ENST00000401467.2_Missense_Mutation_p.E47A	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	47	Ig-like V-type.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				ATCCTTCCCCTCAGAAACTTT	0.478000													125	270					0	0	0.870114	0	0
C8orf46	254778	broad.mit.edu	37	8	67425830	67425830	+	Missense_Mutation	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr8:67425830C>T	ENST00000305454.3	+	5	839	c.398C>T	c.(397-399)gCg>gTg	p.A133V	C8orf46_ENST00000522977.1_Silent_p.G112G|C8orf46_ENST00000480005.1_Missense_Mutation_p.A133V|C8orf46_ENST00000482608.2_3'UTR|C8orf46_ENST00000521495.1_Intron	NM_152765.3	NP_689978.2	Q8TAG6	CH046_HUMAN	chromosome 8 open reading frame 46	133										endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(2)	6			Epithelial(68;0.0224)|BRCA - Breast invasive adenocarcinoma(89;0.0508)|all cancers(69;0.0558)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			TCATTGGAGGCGACAGCCATG	0.587000													6	165					0	0	0.248553	0	0
ZNF234	10780	broad.mit.edu	37	19	44661342	44661342	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr19:44661342G>T	ENST00000426739.2	+	6	1431	c.1173G>T	c.(1171-1173)caG>caT	p.Q391H	ZNF234_ENST00000592437.1_Missense_Mutation_p.Q391H	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	391					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)				AGGCCCATCAGGGAGTCCACA	0.448000													25	47					3.65163e-15	4.46234e-15	0.706142	1	0
ABCC8	6833	broad.mit.edu	37	11	17428910	17428910	+	Missense_Mutation	SNP	C	C	G			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr11:17428910C>G	ENST00000302539.4	-	24	3039	c.2914G>C	c.(2914-2916)Gag>Cag	p.E972Q	ABCC8_ENST00000389817.3_Missense_Mutation_p.E971Q	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	971					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CCTTCCTCCTCTTCCTCATCC	0.547000													42	134					0	0	0.870114	0	0
ST14	6768	broad.mit.edu	37	11	130064107	130064107	+	Silent	SNP	C	C	G			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr11:130064107C>G	ENST00000278742.5	+	8	1357	c.939C>G	c.(937-939)ctC>ctG	p.L313L		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	313	CUB 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	ACGTCCTGCTCATCACACTGA	0.607000													47	244					0	0	0.870114	0	0
NUBP2	10101	broad.mit.edu	37	16	1836555	1836555	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr16:1836555G>T	ENST00000262302.9	+	2	154	c.34G>T	c.(34-36)Ggc>Tgc	p.G12C	NUBP2_ENST00000565134.1_Missense_Mutation_p.G12C|NUBP2_ENST00000565987.1_5'UTR|NUBP2_ENST00000543305.1_5'UTR|NUBP2_ENST00000568706.1_5'UTR	NM_012225.2	NP_036357.1	Q9Y5Y2	NUBP2_HUMAN	nucleotide binding protein 2	12						microtubule organizing center|nucleus	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						AAACCTGGCCGGCGTCAGGCA	0.637000													24	46					3.73988e-18	4.729e-18	0.706142	1	0
SPAG16	79582	broad.mit.edu	37	2	214239765	214239765	+	Silent	SNP	A	A	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr2:214239765A>T	ENST00000331683.5	+	9	959	c.864A>T	c.(862-864)ccA>ccT	p.P288P	SPAG16_ENST00000374309.3_Silent_p.P194P|SPAG16_ENST00000272898.7_Silent_p.P288P|SPAG16_ENST00000447990.1_Silent_p.P288P	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	288					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		AAAATGCACCAGAAGGTCCTA	0.313000													14	45					0	0	0.539581	0	0
ZNF684	127396	broad.mit.edu	37	1	41012466	41012466	+	Silent	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr1:41012466C>T	ENST00000372699.3	+	5	722	c.471C>T	c.(469-471)aaC>aaT	p.N157N	ZNF684_ENST00000493756.1_3'UTR	NM_152373.3	NP_689586.3	Q5T5D7	ZN684_HUMAN	zinc finger protein 684	157					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|lung(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13	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;5.42e-18)			CTGTAGAAAACGCTTATGAAT	0.299000													7	41					0	0	0.248553	0	0
SASS6	163786	broad.mit.edu	37	1	100588800	100588800	+	Missense_Mutation	SNP	A	A	G			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr1:100588800A>G	ENST00000287482.5	-	3	312	c.172T>C	c.(172-174)Tat>Cat	p.Y58H	SASS6_ENST00000535161.1_Intron|SASS6_ENST00000462159.1_5'UTR	NM_194292.1	NP_919268.1	Q6UVJ0	SAS6_HUMAN	spindle assembly 6 homolog (C. elegans)	58	PISA.				centriole replication	centriole				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	19		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		ACAAGGTTATATAAAAAAAAT	0.274000													10	16					0	0	0.520397	0	0
NXPH3	11248	broad.mit.edu	37	17	47656254	47656254	+	Silent	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr17:47656254C>T	ENST00000328741.5	+	2	713	c.351C>T	c.(349-351)ctC>ctT	p.L117L	NXPH3_ENST00000513748.1_Silent_p.L117L	NM_007225.2	NP_009156.2	O95157	NXPH3_HUMAN	neurexophilin 3	117	III.				neuropeptide signaling pathway	extracellular region				endometrium(2)|large_intestine(3)|lung(4)|pancreas(1)|skin(2)	12	all_cancers(4;7.45e-14)|Breast(4;1.08e-27)|all_epithelial(4;2.27e-17)					TGAACCTGCTCGTCACAGGGA	0.582000													11	67					0	0	0.435327	0	0
TBC1D9B	23061	broad.mit.edu	37	5	179306763	179306763	+	Silent	SNP	C	C	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr5:179306763C>A	ENST00000356834.3	-	8	1318	c.1281G>T	c.(1279-1281)tcG>tcT	p.S427S	TBC1D9B_ENST00000355235.3_Silent_p.S427S	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	427						integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGGGCTGCTCCGACCCCTCCT	0.637000													14	19					0.000219431	0.000230702	0.457914	1	0
USH2A	7399	broad.mit.edu	37	1	216258221	216258221	+	Splice_Site	SNP	T	T	C	rs143521854		TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr1:216258221T>C	ENST00000366943.2	-	25	5374		c.e25-2		RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA|USH2A_ENST00000307340.3_Splice_Site|RP11-22M7.2_ENST00000445619.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)						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)		GGATTATCTCTGCAGGAGTTT	0.333000										HNSCC(13;0.011)			18	84					0	0	0.575678	0	0
GRK5	2869	broad.mit.edu	37	10	121212659	121212659	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr10:121212659G>A	ENST00000392870.2	+	15	1874	c.1545G>A	c.(1543-1545)atG>atA	p.M515I	GRK5_ENST00000473264.1_3'UTR|GRK5_ENST00000369108.3_Missense_Mutation_p.M410I	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	515					G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		CCCTCCAGATGATAGAAACAG	0.567000													56	236					0	0	0.870114	0	0
RYR1	6261	broad.mit.edu	37	19	39013725	39013725	+	Silent	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr19:39013725C>T	ENST00000355481.4	+	68	10448	c.10317C>T	c.(10315-10317)ggC>ggT	p.G3439G	RYR1_ENST00000360985.3_Silent_p.G3439G|RYR1_ENST00000359596.3_Silent_p.G3439G	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3439					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGATGGTGGGCGAGATCTTCA	0.677000													8	36					0	0	0.335167	0	0
TNNT3	7140	broad.mit.edu	37	11	1955836	1955836	+	Missense_Mutation	SNP	G	G	C			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr11:1955836G>C	ENST00000381558.1	+	12	796	c.517G>C	c.(517-519)Gag>Cag	p.E173Q	TNNT3_ENST00000360603.3_Missense_Mutation_p.E175Q|TNNT3_ENST00000446240.1_Missense_Mutation_p.E162Q|TNNT3_ENST00000397301.1_Missense_Mutation_p.E192Q|TNNT3_ENST00000397304.2_Missense_Mutation_p.E162Q|TNNT3_ENST00000381589.3_Missense_Mutation_p.E179Q|TNNT3_ENST00000381548.3_Missense_Mutation_p.E183Q|TNNT3_ENST00000381579.3_Missense_Mutation_p.E173Q|TNNT3_ENST00000381561.4_Missense_Mutation_p.E184Q|TNNT3_ENST00000278317.6_Missense_Mutation_p.E181Q|TNNT3_ENST00000493234.1_3'UTR|TNNT3_ENST00000381549.3_Missense_Mutation_p.E173Q			P45378	TNNT3_HUMAN	troponin T type 3 (skeletal, fast)	192					muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		GATTCTGGCTGAGAGACGCAA	0.602000													5	15					0	0	0.278610	0	0
BRD3	8019	broad.mit.edu	37	9	136910446	136910446	+	Missense_Mutation	SNP	T	T	C			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr9:136910446T>C	ENST00000303407.7	-	7	1369	c.1184A>G	c.(1183-1185)cAc>cGc	p.H395R	BRD3_ENST00000357885.2_Missense_Mutation_p.H395R|BRD3_ENST00000371834.2_Missense_Mutation_p.H395R	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	395	Bromo 2.					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)		CACAACCTCGTGGTCTGGGGG	0.607000			T	C15orf55	lethal midline carcinoma of young people								28	83					0	0	0.717897	0	0
CNTLN	54875	broad.mit.edu	37	9	17394905	17394905	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr9:17394905G>T	ENST00000380647.3	+	15	2537	c.2453G>T	c.(2452-2454)cGa>cTa	p.R818L	CNTLN_ENST00000262360.5_Missense_Mutation_p.R818L|CNTLN_ENST00000425824.1_Missense_Mutation_p.R818L			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	818						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		AGATCTGGACGATATGATTGT	0.418000													62	104					2.6465e-34	3.66482e-34	0.870114	1	0
ESPNL	339768	broad.mit.edu	37	2	239040124	239040124	+	Missense_Mutation	SNP	A	A	C			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr2:239040124A>C	ENST00000343063.3	+	9	3032	c.2769A>C	c.(2767-2769)aaA>aaC	p.K923N	ESPNL_ENST00000477241.1_3'UTR|ESPNL_ENST00000409169.1_Missense_Mutation_p.K879N|ESPNL_ENST00000409506.1_Missense_Mutation_p.K555N	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	923										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		AGGACATCAAAGCCCGCTTCT	0.721000													6	12					0	0	0.361761	0	0
PNPLA1	285848	broad.mit.edu	37	6	36259099	36259099	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr6:36259099G>A	ENST00000394571.2	+	2	208	c.208G>A	c.(208-210)Gag>Aag	p.E70K	PNPLA1_ENST00000312917.5_5'UTR|PNPLA1_ENST00000388715.3_5'UTR	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	70	Patatin.				lipid catabolic process		hydrolase activity			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						CTTTGCAGATGAGTATCTCAG	0.567000													3	22					0	0	0.115264	0	0
PTPRD	5789	broad.mit.edu	37	9	8486196	8486196	+	Missense_Mutation	SNP	G	G	C			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr9:8486196G>C	ENST00000381196.4	-	25	3164	c.2621C>G	c.(2620-2622)tCt>tGt	p.S874C	PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000540109.1_Missense_Mutation_p.S874C|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000358503.5_Missense_Mutation_p.S852C|PTPRD_ENST00000360074.4_Missense_Mutation_p.S861C|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000356435.5_Missense_Mutation_p.S874C|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000537002.1_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	874	Fibronectin type-III 6.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TTCTTTTTCAGAGAACTCAAG	0.488000										TSP Lung(15;0.13)			15	53					0	0	0.500413	0	0
PDE3A	5139	broad.mit.edu	37	12	20787959	20787959	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr12:20787959G>T	ENST00000359062.3	+	8	2010	c.1970G>T	c.(1969-1971)aGc>aTc	p.S657I	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	657					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	TCGGCTTGCAGCACCTATGCT	0.433000													17	45					6.94344e-10	7.89576e-10	0.539581	1	0
CNTN2	6900	broad.mit.edu	37	1	205031034	205031034	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr1:205031034G>A	ENST00000331830.4	+	9	1299	c.1015G>A	c.(1015-1017)Gac>Aac	p.D339N		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	339	Ig-like C2-type 4.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CACAGAGGCTGACATTGGCTC	0.617000											OREG0014144	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	143					0	0	0.693898	0	0
SUCNR1	56670	broad.mit.edu	37	3	151598718	151598718	+	Silent	SNP	A	A	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr3:151598718A>T	ENST00000362032.4	+	3	492	c.387A>T	c.(385-387)cgA>cgT	p.R129R	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_033050.4	NP_149039.2	Q9BXA5	SUCR1_HUMAN	succinate receptor 1	129						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	ATCCTTTCCGAGAACACCTTC	0.373000													77	54					0	0	0.870114	0	0
FASLG	356	broad.mit.edu	37	1	172634827	172634827	+	Missense_Mutation	SNP	G	G	C	rs80358236		TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr1:172634827G>C	ENST00000367721.2	+	4	701	c.517G>C	c.(517-519)Gga>Cga	p.G173R	FASLG_ENST00000340030.3_3'UTR	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN	Fas ligand (TNF superfamily, member 6)	173					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						CCTGCTTTCTGGAGTGAAGTA	0.443000													71	80					0	0	0.870114	0	0
PANK2	80025	broad.mit.edu	37	20	3869917	3869917	+	Missense_Mutation	SNP	C	C	G			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr20:3869917C>G	ENST00000316562.4	+	1	176	c.170C>G	c.(169-171)cCt>cGt	p.P57R	PANK2_ENST00000497424.1_Intron	NM_153638.2	NP_705902.2	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	57					cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						ACGGTCAATCCTCCTCGAGTT	0.677000													5	14					0	0	0.217242	0	0
SYCP2L	221711	broad.mit.edu	37	6	10898309	10898309	+	Translation_Start_Site	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr6:10898309G>A	ENST00000543878.1	+	0	625				RP11-637O19.3_ENST00000480294.1_3'UTR|SYCP2L_ENST00000283141.6_Silent_p.S134S			Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like							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)			CAGACACGTCGCTGATTTGTG	0.443000													24	59					0	0	0.706142	0	0
PKHD1	5314	broad.mit.edu	37	6	51917992	51917992	+	Silent	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr6:51917992G>A	ENST00000371117.3	-	21	2297	c.2022C>T	c.(2020-2022)ctC>ctT	p.L674L	PKHD1_ENST00000340994.4_Silent_p.L674L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	674					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)					GAGGGGGCTGGAGATCCCCGA	0.547000													30	37					0	0	0.769981	0	0
ZNF554	115196	broad.mit.edu	37	19	2827677	2827677	+	Missense_Mutation	SNP	G	G	C			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr19:2827677G>C	ENST00000317243.5	+	3	387	c.189G>C	c.(187-189)gaG>gaC	p.E63D	ZNF554_ENST00000591265.1_Missense_Mutation_p.E63D	NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	63	KRAB.				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)		AGTTGCTGGAGCCTGCTCAGA	0.493000													3	78					0	0	0.150653	0	0
KCNK10	54207	broad.mit.edu	37	14	88729865	88729865	+	Missense_Mutation	SNP	T	T	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr14:88729865T>A	ENST00000340700.5	-	2	519	c.68A>T	c.(67-69)cAg>cTg	p.Q23L	KCNK10_ENST00000312350.5_Missense_Mutation_p.Q28L|KCNK10_ENST00000319231.5_Missense_Mutation_p.Q28L	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	23					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						GCTCTTGGGCTGGCACACCGG	0.572000													9	70					0	0	0.387290	0	0
MKRN3	7681	broad.mit.edu	37	15	23811059	23811059	+	Missense_Mutation	SNP	C	C	G			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr15:23811059C>G	ENST00000314520.3	+	1	606	c.130C>G	c.(130-132)Cca>Gca	p.P44A	MKRN3_ENST00000568252.1_Missense_Mutation_p.P44A|MKRN3_ENST00000564592.1_Missense_Mutation_p.P44A	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	44						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		ATCTGCTGCTCCAGATTCAGC	0.701000													10	79					0	0	0.411799	0	0
FOXP1	27086	broad.mit.edu	37	3	71008398	71008398	+	Nonstop_Mutation	SNP	T	T	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr3:71008398T>A	ENST00000318789.4	-	21	2559	c.2034A>T	c.(2032-2034)tgA>tgT	p.*678C	FOXP1_ENST00000468577.1_Nonstop_Mutation_p.*614C|FOXP1_ENST00000484350.1_Nonstop_Mutation_p.*602C|FOXP1_ENST00000475937.1_Nonstop_Mutation_p.*678C|FOXP1_ENST00000493089.1_Nonstop_Mutation_p.*677C|FOXP1_ENST00000491238.1_Nonstop_Mutation_p.*680C|FOXP1_ENST00000498215.1_Nonstop_Mutation_p.*678C	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	0					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		GCCCCGATAGTCACTCCATGT	0.443000			T	PAX5	ALL								63	54					0	0	0.870114	0	0
F8	2157	broad.mit.edu	37	X	154065908	154065908	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chrX:154065908C>A	ENST00000360256.4	-	26	7220	c.7020G>T	c.(7018-7020)atG>atT	p.M2340I	F8_ENST00000330287.6_Missense_Mutation_p.M205I	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	2340	F5/8 type C 2.				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)	CCAGAACCTCCATCCTCAGGG	0.602000													8	10					0.0381472	0.0386787	0.278610	1	0
SBSN	374897	broad.mit.edu	37	19	36018294	36018294	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr19:36018294C>A	ENST00000452271.2	-	1	918	c.890G>T	c.(889-891)gGc>gTc	p.G297V	SBSN_ENST00000518157.1_Intron	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	170						extracellular region				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GGCCCCCTGGCCAAACTTCTC	0.642000													13	39					8.00594e-06	8.58247e-06	0.557998	1	0
CDH11	1009	broad.mit.edu	37	16	65038634	65038634	+	Missense_Mutation	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr16:65038634C>T	ENST00000394156.3	-	3	592	c.139G>A	c.(139-141)Gtg>Atg	p.V47M	CDH11_ENST00000569624.1_5'UTR|CDH11_ENST00000566827.1_Intron|CDH11_ENST00000268603.4_Missense_Mutation_p.V47M			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	47					adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CGCTGTAGCACCTGCCCCTCC	0.657000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			9	45					0	0	0.361761	0	0
ZNF679	168417	broad.mit.edu	37	7	63726834	63726834	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr7:63726834C>A	ENST00000421025.1	+	5	1092	c.823C>A	c.(823-825)Caa>Aaa	p.Q275K	ZNF679_ENST00000255746.4_Missense_Mutation_p.Q275K	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	275					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						AGAATGTGGCCAAGCCTTTAG	0.428000													36	36					1.36161e-19	1.73851e-19	0.796494	1	0
XYLB	9942	broad.mit.edu	37	3	38407197	38407197	+	Silent	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr3:38407197C>T	ENST00000207870.3	+	6	567	c.477C>T	c.(475-477)ctC>ctT	p.L159L	XYLB_ENST00000542835.1_Silent_p.L22L	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN	xylulokinase homolog (H. influenzae)	159					D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity			endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		CTCAGGCTCTCAGCTGCCTCA	0.652000													17	23					0	0	0.520397	0	0
SIGLEC16	400709	broad.mit.edu	37	19	50473221	50473221	+	RNA	SNP	T	T	C	rs117072442	by1000genomes	TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr19:50473221T>C	ENST00000602139.1	+	0	222									sialic acid binding Ig-like lectin 16 (gene/pseudogene)									p.W65R(3)		endometrium(2)|kidney(2)|lung(6)	10						GTTCAAAGGATGGACCAGCCC	0.602000													4	113					0	0	0.150653	0	0
ZNF224	7767	broad.mit.edu	37	19	44605359	44605359	+	Missense_Mutation	SNP	C	C	G			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr19:44605359C>G	ENST00000336976.6	+	5	470	c.216C>G	c.(214-216)atC>atG	p.I72M		NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	72	KRAB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				AGACAGCAATCCAAAGGGAAG	0.438000													13	82					0	0	0.479597	0	0
ZMAT4	79698	broad.mit.edu	37	8	40438709	40438709	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr8:40438709G>T	ENST00000297737.6	-	6	795	c.649C>A	c.(649-651)Ctg>Atg	p.L217M	ZMAT4_ENST00000315769.7_Missense_Mutation_p.L141M	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	zinc finger, matrin-type 4	217						nucleus	DNA binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			GATCCTTTCAGATGGGCATGA	0.413000													57	50					1.85257e-25	2.44152e-25	0.870114	1	0
VILL	50853	broad.mit.edu	37	3	38035437	38035437	+	Missense_Mutation	SNP	G	G	C			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr3:38035437G>C	ENST00000283713.6	+	3	375	c.109G>C	c.(109-111)Gag>Cag	p.E37Q	VILL_ENST00000383759.2_Missense_Mutation_p.E37Q			O15195	VILL_HUMAN	villin-like	37					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GAACTTTTTTGAGGAACACTG	0.582000													54	70					0	0	0.870114	0	0
USH2A	7399	broad.mit.edu	37	1	216073486	216073486	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr1:216073486G>A	ENST00000366943.2	-	40	7911	c.7525C>T	c.(7525-7527)Cgg>Tgg	p.R2509W	RP5-1111A8.3_ENST00000414995.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.R2509W			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2509	Fibronectin type-III 11.				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)		GCAACCAACCGAAACATATAC	0.423000										HNSCC(13;0.011)			25	135					0	0	0.706142	0	0
MAN2A1	4124	broad.mit.edu	37	5	109155568	109155568	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr5:109155568G>T	ENST00000261483.4	+	14	3360	c.2308G>T	c.(2308-2310)Gat>Tat	p.D770Y		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	770					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			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		ACTTCGGTTTGATCAAACTGG	0.308000													28	192					2.61193e-14	3.13336e-14	0.740014	1	0
LPHN3	23284	broad.mit.edu	37	4	62758546	62758546	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr4:62758546C>A	ENST00000512091.1	+	9	2196	c.1449C>A	c.(1447-1449)caC>caA	p.H483Q	LPHN3_ENST00000508946.1_Missense_Mutation_p.H483Q|LPHN3_ENST00000514591.1_Missense_Mutation_p.H483Q|LPHN3_ENST00000506700.1_Missense_Mutation_p.H483Q|LPHN3_ENST00000514996.1_Missense_Mutation_p.H483Q|LPHN3_ENST00000545650.1_Missense_Mutation_p.H483Q|LPHN3_ENST00000511324.1_Missense_Mutation_p.H551Q|LPHN3_ENST00000504896.1_Missense_Mutation_p.H483Q|LPHN3_ENST00000509896.1_Missense_Mutation_p.H551Q|LPHN3_ENST00000507164.1_Missense_Mutation_p.H551Q|LPHN3_ENST00000507625.1_Missense_Mutation_p.H551Q|LPHN3_ENST00000506746.1_Missense_Mutation_p.H551Q|LPHN3_ENST00000514157.1_Missense_Mutation_p.H483Q|LPHN3_ENST00000508693.1_Missense_Mutation_p.H551Q|LPHN3_ENST00000506720.1_Missense_Mutation_p.H551Q			Q9HAR2	LPHN3_HUMAN	latrophilin 3	483					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TGACCACACACCTTCCATCAG	0.527000													12	42					7.03913e-09	7.88142e-09	0.411799	1	0
AFF2	2334	broad.mit.edu	37	X	148035133	148035133	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chrX:148035133C>A	ENST00000370460.2	+	10	1900	c.1421C>A	c.(1420-1422)cCc>cAc	p.P474H	AFF2_ENST00000370457.5_Missense_Mutation_p.P441H|AFF2_ENST00000286437.5_Missense_Mutation_p.P115H|AFF2_ENST00000342251.3_Missense_Mutation_p.P441H	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	474					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					ACTCCCCAGCCCCCACCTGCA	0.532000													52	115					6.3237e-29	8.52268e-29	0.870114	1	0
CHST12	55501	broad.mit.edu	37	7	2472627	2472627	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr7:2472627G>A	ENST00000258711.6	+	2	488	c.353G>A	c.(352-354)gGc>gAc	p.G118D		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	118					dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		CCAGACCAGGGCCGGCAGCAG	0.711000													5	60					0	0	0.217242	0	0
DNAJB2	3300	broad.mit.edu	37	2	220147594	220147594	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr2:220147594G>T	ENST00000336576.5	+	6	676	c.388G>T	c.(388-390)Ggt>Tgt	p.G130C	DNAJB2_ENST00000392086.4_Missense_Mutation_p.G130C|DNAJB2_ENST00000463463.1_3'UTR	NM_006736.5	NP_006727.2	P25686	DNJB2_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 2	130					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	heat shock protein binding|Hsp70 protein binding|polyubiquitin binding|proteasome binding|protein binding|unfolded protein binding			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)		TCAGAACCGGGGTTCCCGACA	0.537000													48	110					4.33383e-22	5.59894e-22	0.870114	1	0
ARID1B	57492	broad.mit.edu	37	6	157517356	157517356	+	Missense_Mutation	SNP	A	A	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr6:157517356A>T	ENST00000346085.5	+	16	3921	c.3920A>T	c.(3919-3921)cAg>cTg	p.Q1307L	ARID1B_ENST00000367148.1_Missense_Mutation_p.Q1347L|ARID1B_ENST00000350026.5_Missense_Mutation_p.Q1294L|ARID1B_ENST00000275248.4_Missense_Mutation_p.Q1289L	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1294					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)		AGCAGCATGCAGGACATGTAC	0.498000													85	97					0	0	0.870114	0	0
DNAJC10	54431	broad.mit.edu	37	2	183593357	183593357	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr2:183593357G>T	ENST00000264065.6	+	6	888	c.473G>T	c.(472-474)tGt>tTt	p.C158F	DNAJC10_ENST00000537515.1_Missense_Mutation_p.C158F|DNAJC10_ENST00000469118.1_3'UTR	NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	158	Thioredoxin 1.				apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TCCCCAGGCTGTTCACACTGC	0.303000													23	99					5.24475e-26	6.98234e-26	0.681144	1	0
LNPEP	4012	broad.mit.edu	37	5	96332192	96332192	+	Missense_Mutation	SNP	C	C	G			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr5:96332192C>G	ENST00000231368.5	+	7	2198	c.1506C>G	c.(1504-1506)ttC>ttG	p.F502L	LNPEP_ENST00000395770.3_Missense_Mutation_p.F488L	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	502					cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		AAAAAATATTCAAAGAGCTTT	0.368000													7	31					0	0	0.307466	0	0
KIAA1958	158405	broad.mit.edu	37	9	115336826	115336826	+	Missense_Mutation	SNP	G	G	C			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr9:115336826G>C	ENST00000337530.6	+	2	762	c.466G>C	c.(466-468)Gag>Cag	p.E156Q	KIAA1958_ENST00000536272.1_Missense_Mutation_p.E156Q|KIAA1958_ENST00000374244.3_Missense_Mutation_p.E156Q	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	156										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						TGTTACAGATGAGGATAGTGA	0.473000													11	143					0	0	0.411799	0	0
IMPG1	3617	broad.mit.edu	37	6	76715120	76715120	+	Missense_Mutation	SNP	A	A	G			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr6:76715120A>G	ENST00000369950.3	-	10	1208	c.1019T>C	c.(1018-1020)aTg>aCg	p.M340T	IMPG1_ENST00000369963.3_3'UTR	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	340	SEA 1.				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				GTCCTCCTCCATGGTTCCATG	0.438000													44	31					0	0	0.870114	0	0
AKAP8	10270	broad.mit.edu	37	19	15483953	15483953	+	Silent	SNP	C	C	G			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr19:15483953C>G	ENST00000269701.2	-	5	630	c.570G>C	c.(568-570)cgG>cgC	p.R190R		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	190					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						GGCCCTGGCCCCGGCCCCGCA	0.701000													7	28					0	0	0.307466	0	0
KRTAP24-1	643803	broad.mit.edu	37	21	31654667	31654667	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr21:31654667G>T	ENST00000340345.4	-	1	609	c.584C>A	c.(583-585)tCc>tAc	p.S195Y		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	195	6 X 10 AA repeats of Y-[ILR]-[SVPC]- [NRTS]-[SNTG]-X-[QHRP]-[PSY]-[QSL]-[SRK].					keratin filament	structural molecule activity			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						GCAGCTGTTGGAAATATAACA	0.418000													14	75					1.52009e-12	1.80047e-12	0.479597	1	0
PKD1	5310	broad.mit.edu	37	16	2153864	2153864	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr16:2153864G>A	ENST00000262304.4	-	23	8402	c.8194C>T	c.(8194-8196)Cgg>Tgg	p.R2732W	PKD1_ENST00000423118.1_Missense_Mutation_p.R2732W|PKD1_ENST00000561991.1_5'UTR	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2732	REJ.				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						TGTGGTGCCCGCACGTCCGAG	0.642000													3	21					0	0	0.115264	0	0
GPR35	2859	broad.mit.edu	37	2	241569725	241569725	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr2:241569725G>T	ENST00000319838.5	+	6	1298	c.356G>T	c.(355-357)cGg>cTg	p.R119L	GPR35_ENST00000407714.1_Missense_Mutation_p.R119L|GPR35_ENST00000430267.1_Missense_Mutation_p.R119L|GPR35_ENST00000403859.1_Missense_Mutation_p.R119L|GPR35_ENST00000438013.2_Missense_Mutation_p.R150L	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	119						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)		GTGGCCGTGCGGCACCCGCTG	0.706000													9	29					0.000442599	0.000461628	0.335167	1	0
EPHA3	2042	broad.mit.edu	37	3	89259174	89259174	+	Nonsense_Mutation	SNP	C	C	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr3:89259174C>A	ENST00000336596.2	+	3	543	c.318C>A	c.(316-318)tgC>tgA	p.C106*	EPHA3_ENST00000452448.2_Nonsense_Mutation_p.C106*|EPHA3_ENST00000494014.1_Nonsense_Mutation_p.C106*	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	106						extracellular region|integral to plasma membrane	ATP binding	p.C106C(1)		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)		TACGAGACTGCAATAGCATTC	0.443000										TSP Lung(6;0.00050)			13	107					4.3838e-07	4.8097e-07	0.435327	1	0
NELFCD	51497	broad.mit.edu	37	20	57561856	57561856	+	Missense_Mutation	SNP	C	C	G			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr20:57561856C>G	ENST00000602795.1	+	3	326	c.278C>G	c.(277-279)tCt>tGt	p.S93C	NELFCD_ENST00000344018.3_Missense_Mutation_p.S84C					negative elongation factor complex member C/D																		CAGCTCTTATCTGAAAACTAC	0.507000													48	180					0	0	0.870114	0	0
SEMA4C	54910	broad.mit.edu	37	2	97529498	97529498	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr2:97529498C>A	ENST00000305476.5	-	12	1496	c.1364G>T	c.(1363-1365)gGg>gTg	p.G455V		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	455	Dominant negative effect on myogenic differentiation (By similarity).|Sema.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						AACCCAGGGCCCCAGGCTCAC	0.592000													33	65					4.3181e-19	5.47071e-19	0.769981	1	0
KIF20B	9585	broad.mit.edu	37	10	91468937	91468937	+	Missense_Mutation	SNP	A	A	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr10:91468937A>T	ENST00000416354.1	+	3	233	c.161A>T	c.(160-162)gAa>gTa	p.E54V	KIF20B_ENST00000371728.3_Missense_Mutation_p.E54V|KIF20B_ENST00000394289.2_Missense_Mutation_p.E54V|KIF20B_ENST00000260753.4_Missense_Mutation_p.E54V			Q96Q89	KI20B_HUMAN	kinesin family member 20B	54					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						AACAGTTTCGAATCTAAAGAT	0.313000													44	49					0	0	0.870114	0	0
NDUFA7	4701	broad.mit.edu	37	19	8381506	8381506	+	Missense_Mutation	SNP	G	G	C			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr19:8381506G>C	ENST00000301457.2	-	3	162	c.125C>G	c.(124-126)cCt>cGt	p.P42R	NDUFA7_ENST00000598884.1_Missense_Mutation_p.P42R	NM_005001.3	NP_004992.2	O95182	NDUA7_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7, 14.5kDa	42					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			NS(1)|central_nervous_system(1)|lung(2)|ovary(1)	5					NADH(DB00157)	AGGACCCACAGGGAGCTTGGG	0.572000													45	39					0	0	0.870114	0	0
EPC1	80314	broad.mit.edu	37	10	32573694	32573694	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr10:32573694G>A	ENST00000319778.6	-	10	1978	c.1676C>T	c.(1675-1677)gCa>gTa	p.A559V	EPC1_ENST00000263062.8_Missense_Mutation_p.A559V|EPC1_ENST00000375110.2_Missense_Mutation_p.A509V	NM_001272004.1|NM_001272019.1	NP_001258933.1|NP_001258948.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	559					histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				CCCAGGTTGTGCTGTTCCTGT	0.438000													22	127					0	0	0.639603	0	0
PRUNE2	158471	broad.mit.edu	37	9	79320109	79320109	+	Missense_Mutation	SNP	T	T	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr9:79320109T>A	ENST00000428286.1	-	8	7204	c.6004A>T	c.(6004-6006)Atc>Ttc	p.I2002F	PRUNE2_ENST00000376718.3_Missense_Mutation_p.I2361F			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2361					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TCTTCATCGATATTCTGGCCC	0.498000													104	94					0	0	0.870114	0	0
LRP1B	53353	broad.mit.edu	37	2	141945996	141945996	+	Missense_Mutation	SNP	A	A	G			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr2:141945996A>G	ENST00000389484.3	-	7	1978	c.1007T>C	c.(1006-1008)aTa>aCa	p.I336T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	336					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)		TTACCCTGCTATTGGATCTAC	0.368000										TSP Lung(27;0.18)			15	55					0	0	0.500413	0	0
AHNAK	79026	broad.mit.edu	37	11	62298153	62298153	+	Missense_Mutation	SNP	G	G	C			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr11:62298153G>C	ENST00000378024.4	-	5	4010	c.3736C>G	c.(3736-3738)Caa>Gaa	p.Q1246E	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1246					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)				TCTGGGCCTTGAACCTCCACA	0.502000													12	472					0	0	0.435327	0	0
GALNS	2588	broad.mit.edu	37	16	88907414	88907414	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr16:88907414C>A	ENST00000268695.5	-	4	496	c.408G>T	c.(406-408)aaG>aaT	p.K136N	GALNS_ENST00000542788.1_Missense_Mutation_p.K61N|GALNS_ENST00000565364.1_5'UTR	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfate sulfatase	136						lysosome	metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)	Hyaluronidase(DB00070)	TGCCGACAATCTTGCTGACGT	0.607000													20	49					7.88262e-20	1.0104e-19	0.654019	1	0
COL4A3	1285	broad.mit.edu	37	2	228137827	228137827	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr2:228137827G>A	ENST00000396578.3	+	26	2083	c.1921G>A	c.(1921-1923)Gaa>Aaa	p.E641K	AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	641	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		ACCACCCGGAGAAGCCGGTTG	0.552000													5	50					0	0	0.248553	0	0
ZNF222	7673	broad.mit.edu	37	19	44536511	44536511	+	Silent	SNP	T	T	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr19:44536511T>A	ENST00000187879.8	+	4	846	c.684T>A	c.(682-684)ccT>ccA	p.P228P	ZNF223_ENST00000591793.1_Intron|ZNF222_ENST00000391960.3_Silent_p.P268P	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN	zinc finger protein 222	228					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				GAGAGAAACCTTATAATTGTG	0.388000													35	275					0	0	0.819951	0	0
TNNI3K	51086	broad.mit.edu	37	1	74929197	74929197	+	Nonsense_Mutation	SNP	C	C	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr1:74929197C>A	ENST00000370891.2	+	23	2403	c.2387C>A	c.(2386-2388)tCa>tAa	p.S796*	FPGT-TNNI3K_ENST00000557284.1_Nonsense_Mutation_p.S796*|TNNI3K_ENST00000326637.3_Nonsense_Mutation_p.S695*|FPGT-TNNI3K_ENST00000370899.3_Nonsense_Mutation_p.S796*	NM_001112808.2	NP_001106279.1			TNNI3 interacting kinase											cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						AAGCCCATATCATCTCTGCTG	0.438000													21	250					1.9806e-07	2.17666e-07	0.624587	1	0
RRNAD1	51093	broad.mit.edu	37	1	156703283	156703283	+	Missense_Mutation	SNP	C	C	G			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr1:156703283C>G	ENST00000368216.4	+	5	1237	c.607C>G	c.(607-609)Ctg>Gtg	p.L203V	RRNAD1_ENST00000476229.1_Missense_Mutation_p.L80V|RRNAD1_ENST00000368218.4_Missense_Mutation_p.L203V	NM_015997.3	NP_057081.3	Q96FB5	RRNAD_HUMAN	ribosomal RNA adenine dimethylase domain containing 1	203						integral to membrane	rRNA (adenine-N6,N6-)-dimethyltransferase activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						TCTGCAGGCTCTGGAGAAAGA	0.602000													27	175					0	0	0.706142	0	0
AMIGO1	57463	broad.mit.edu	37	1	110050664	110050664	+	Missense_Mutation	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr1:110050664C>T	ENST00000369864.4	-	2	1220	c.871G>A	c.(871-873)Gac>Aac	p.D291N	AMIGO1_ENST00000369862.1_Missense_Mutation_p.D291N			Q86WK6	AMGO1_HUMAN	adhesion molecule with Ig-like domain 1	291	Ig-like C2-type.				axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis	axon|integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		TGCTTGGTGTCACACTTGATG	0.532000													42	111					0	0	0.864702	0	0
RASAL1	8437	broad.mit.edu	37	12	113553590	113553590	+	Missense_Mutation	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr12:113553590C>T	ENST00000546530.1	-	11	1138	c.853G>A	c.(853-855)Gac>Aac	p.D285N	RASAL1_ENST00000446861.3_Missense_Mutation_p.D285N|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000261729.5_Missense_Mutation_p.D285N|RASAL1_ENST00000548055.1_Missense_Mutation_p.D285N	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	285					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			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						CTAGCAGTGTCCTCCTGGGTG	0.637000													11	43					0	0	0.411799	0	0
TAF1C	9013	broad.mit.edu	37	16	84213089	84213089	+	Nonsense_Mutation	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr16:84213089G>A	ENST00000567759.1	-	14	2250	c.2068C>T	c.(2068-2070)Cag>Tag	p.Q690*	TAF1C_ENST00000541676.1_Nonsense_Mutation_p.Q597*|TAF1C_ENST00000341690.6_Nonsense_Mutation_p.Q596*|TAF1C_ENST00000566732.1_Nonsense_Mutation_p.Q664*|TAF1C_ENST00000570117.1_Nonsense_Mutation_p.Q358*|TAF1C_ENST00000378541.4_Nonsense_Mutation_p.Q690*	NM_005679.3	NP_005670.3	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	690					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						AGCAGGAGCTGCCCTCGGGCC	0.687000													6	33					0	0	0.248553	0	0
IGSF9B	22997	broad.mit.edu	37	11	133790522	133790522	+	Missense_Mutation	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr11:133790522C>T	ENST00000321016.8	-	18	3328	c.3098G>A	c.(3097-3099)gGa>gAa	p.G1033E	IGSF9B_ENST00000533871.2_Missense_Mutation_p.G1033E			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1033	Pro-rich.					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)		GGAGCGCCCTCCTGTAGGTGT	0.662000													21	88					0	0	0.654019	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475054	140475054	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr5:140475054C>A	ENST00000194155.4	+	1	828	c.680C>A	c.(679-681)aCg>aAg	p.T227K		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		227	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.T227M(1)		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)			AGGTCCGGCACGGCCCTGGTA	0.592000													6	41					5.9392e-07	6.49445e-07	0.217242	1	0
GPR161	23432	broad.mit.edu	37	1	168073831	168073831	+	Silent	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr1:168073831C>T	ENST00000367838.1	-	4	571	c.258G>A	c.(256-258)acG>acA	p.T86T	GPR161_ENST00000367835.1_Silent_p.T86T|GPR161_ENST00000539777.1_Intron|GPR161_ENST00000546300.1_Intron|GPR161_ENST00000537209.1_Silent_p.T106T|GPR161_ENST00000367836.1_Intron|GPR161_ENST00000271357.5_Silent_p.T86T|GPR161_ENST00000361697.2_Silent_p.T86T	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	86					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)					GGATGGAGCTCGTCACCACAA	0.552000													6	140					0	0	0.278610	0	0
HOXB2	3212	broad.mit.edu	37	17	46620496	46620496	+	Silent	SNP	A	A	G			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr17:46620496A>G	ENST00000330070.4	-	2	2172	c.1005T>C	c.(1003-1005)ccT>ccC	p.P335P	HOXB2_ENST00000504772.3_5'UTR	NM_002145.3	NP_002136.1	P14652	HXB2_HUMAN	homeobox B2	335					blood circulation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P335P(2)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						CCTCGGAAAAAGGGACCGGGC	0.587000													5	185					0	0	0.217242	0	0
ZNF254	9534	broad.mit.edu	37	19	24288789	24288789	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr19:24288789G>T	ENST00000357002.4	+	2	193	c.78G>T	c.(76-78)gaG>gaT	p.E26D	ZNF254_ENST00000342944.6_Intron|ZNF254_ENST00000339642.6_Missense_Mutation_p.E26D	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	26	KRAB.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				CTCTGGAGGAGTGGCAACACC	0.413000													82	217					5.88579e-26	7.81986e-26	0.870114	1	0
ARHGAP32	9743	broad.mit.edu	37	11	128842458	128842458	+	Missense_Mutation	SNP	T	T	C			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr11:128842458T>C	ENST00000310343.9	-	21	3900	c.3901A>G	c.(3901-3903)Aga>Gga	p.R1301G	ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.R952G|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.R952G	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1301					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi 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						CGATTAGTTCTGTGCGTGCGC	0.542000													37	123					0	0	0.804634	0	0
GALNT14	79623	broad.mit.edu	37	2	31165067	31165067	+	Splice_Site	SNP	C	C	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr2:31165067C>A	ENST00000349752.5	-	9	1570	c.931_splice	c.e9+1	p.E311_splice	GALNT14_ENST00000356174.3_Splice_Site_p.E278_splice|GALNT14_ENST00000420311.2_Splice_Site_p.E276_splice|GALNT14_ENST00000324589.5_Splice_Site_p.E316_splice|GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000406653.1_Splice_Site_p.E291_splice	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	311	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					AGGGACTCACCAAAGTTCTCC	0.517000													46	72					1.51926e-22	1.96663e-22	0.870114	1	0
AHNAK	79026	broad.mit.edu	37	11	62296322	62296322	+	Missense_Mutation	SNP	G	G	C			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr11:62296322G>C	ENST00000378024.4	-	5	5841	c.5567C>G	c.(5566-5568)tCc>tGc	p.S1856C	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1856					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)				ATCAGGCATGGAGATCTTGGG	0.527000													9	323					0	0	0.387290	0	0
HIST1H4D	8360	broad.mit.edu	37	6	26189215	26189215	+	Missense_Mutation	SNP	G	G	C	rs144085716	byFrequency	TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr6:26189215G>C	ENST00000340756.2	-	1	89	c.90C>G	c.(88-90)atC>atG	p.I30M		NM_003539.3	NP_003530.1	P62805	H4_HUMAN	histone cluster 1, H4d	30					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)	8		all_hematologic(11;0.196)				CGGGCTTGGTGATTCCTTGGA	0.572000													17	81					0	0	0.557998	0	0
ZP4	57829	broad.mit.edu	37	1	238045785	238045785	+	Silent	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr1:238045785G>T	ENST00000366570.4	-	12	1718	c.1560C>A	c.(1558-1560)gcC>gcA	p.A520A	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	520					acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			ATACTAACAAGGCTCCAAGGA	0.473000													89	70					3.39216e-54	4.88322e-54	0.870114	1	0
C4orf21	55345	broad.mit.edu	37	4	113508556	113508556	+	Missense_Mutation	SNP	T	T	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr4:113508556T>A	ENST00000505019.1	-	12	3782	c.3657A>T	c.(3655-3657)caA>caT	p.Q1219H		NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	0										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		AAACCGAATCTTGACTGCTAA	0.383000													83	144					0	0	0.870114	0	0
OR13G1	441933	broad.mit.edu	37	1	247836135	247836135	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr1:247836135C>A	ENST00000359688.2	-	1	230	c.209G>T	c.(208-210)tGc>tTc	p.C70F	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	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)			GCTTGTTGTGCAGATGATGTC	0.453000													30	33					2.65835e-16	3.30402e-16	0.717897	1	0
PHIP	55023	broad.mit.edu	37	6	79726319	79726319	+	Nonsense_Mutation	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr6:79726319G>A	ENST00000275034.4	-	13	1344	c.1177C>T	c.(1177-1179)Caa>Taa	p.Q393*		NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	393					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)		CGTTTAAATTGCCAAATACGT	0.378000													25	136					0	0	0.760397	0	0
NEUROG1	4762	broad.mit.edu	37	5	134870856	134870856	+	Silent	SNP	A	A	G			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr5:134870856A>G	ENST00000314744.4	-	1	783	c.525T>C	c.(523-525)ggT>ggC	p.G175G		NM_006161.2	NP_006152.2	Q92886	NGN1_HUMAN	neurogenin 1	175					positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	nucleus	chromatin binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity			endometrium(1)|liver(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGCTTGGGGGACCGGGCAGGC	0.756000													4	21					0	0	0.217242	0	0
ITGAX	3687	broad.mit.edu	37	16	31391316	31391316	+	Missense_Mutation	SNP	G	G	C			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr16:31391316G>C	ENST00000268296.4	+	26	3111	c.2990G>C	c.(2989-2991)cGg>cCg	p.R997P	ITGAX_ENST00000562522.1_Missense_Mutation_p.R997P	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	997					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CCATCCCTTCGGTGCTCCTCA	0.572000													15	84					0	0	0.557998	0	0
COL12A1	1303	broad.mit.edu	37	6	75851876	75851876	+	Splice_Site	SNP	A	A	G			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr6:75851876A>G	ENST00000322507.8	-	27	5138	c.4827_splice	c.e27-1	p.V1610_splice	COL12A1_ENST00000483888.2_Splice_Site_p.V1610_splice|COL12A1_ENST00000345356.6_Splice_Site_p.V446_splice|COL12A1_ENST00000416123.2_Splice_Site_p.V1610_splice	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1610	Fibronectin type-III 11.				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						GTCCACCTCTACCTATAACAG	0.433000													92	84					0	0	0.870114	0	0
SDHAP3	728609	broad.mit.edu	37	5	1589382	1589382	+	RNA	SNP	G	G	C			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr5:1589382G>C	ENST00000436493.2	-	0	496																											CTGAGTCGCAGTTCTCATGTT	0.463000													17	91					0	0	0.575678	0	0
SCN5A	6331	broad.mit.edu	37	3	38592690	38592690	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr3:38592690G>T	ENST00000413689.1	-	28	5366	c.5173C>A	c.(5173-5175)Ccg>Acg	p.P1725T	SCN5A_ENST00000455624.2_Missense_Mutation_p.P1692T|SCN5A_ENST00000451551.2_Missense_Mutation_p.P1671T|SCN5A_ENST00000450102.2_Missense_Mutation_p.P1671T|SCN5A_ENST00000449557.2_Missense_Mutation_p.P1671T|SCN5A_ENST00000443581.1_Missense_Mutation_p.P1724T|SCN5A_ENST00000425664.1_Missense_Mutation_p.P1707T|SCN5A_ENST00000423572.2_Missense_Mutation_p.P1724T|SCN5A_ENST00000414099.2_Missense_Mutation_p.P1707T|SCN5A_ENST00000333535.4_Missense_Mutation_p.P1725T	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1725					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CAGTAGGGCGGCCCAGTGTTG	0.622000													60	49					9.53978e-28	1.27522e-27	0.870114	1	0
PREB	10113	broad.mit.edu	37	2	27355223	27355223	+	Silent	SNP	C	C	G			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr2:27355223C>G	ENST00000260643.2	-	6	1054	c.801G>C	c.(799-801)gtG>gtC	p.V267V	PREB_ENST00000406567.3_Intron	NM_013388.4	NP_037520.1	Q9HCU5	PREB_HUMAN	prolactin regulatory element binding	267					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)					GGGGAATTTGCACTGTGAAGA	0.637000													19	112					0	0	0.667858	0	0
KRT23	25984	broad.mit.edu	37	17	39084778	39084778	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr17:39084778C>A	ENST00000209718.3	-	5	1142	c.718G>T	c.(718-720)Gtc>Ttc	p.V240F	KRT23_ENST00000436344.3_Missense_Mutation_p.V103F|AC004231.2_ENST00000418393.1_RNA	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	240	Linker 12.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				TCCTCCAGGACCTTAATCAGA	0.383000													159	170					1.31095e-63	1.89552e-63	0.870114	1	0
RXFP3	51289	broad.mit.edu	37	5	33938059	33938059	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr5:33938059G>T	ENST00000330120.3	+	1	1569	c.1214G>T	c.(1213-1215)tGg>tTg	p.W405L		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	405						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						AGCCTGCTGTGGCGCATCGCG	0.682000													33	108					4.31634e-10	4.93403e-10	0.760397	1	0
GATAD2B	57459	broad.mit.edu	37	1	153784275	153784275	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr1:153784275C>A	ENST00000368655.4	-	10	1823	c.1580G>T	c.(1579-1581)cGc>cTc	p.R527L		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	527						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AAGCATGGAGCGGGCAGATGT	0.493000													32	73					1.45844e-13	1.73686e-13	0.769981	1	0
DHCR7	1717	broad.mit.edu	37	11	71155938	71155938	+	Missense_Mutation	SNP	C	C	G			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr11:71155938C>G	ENST00000355527.3	-	3	337	c.61G>C	c.(61-63)Gac>Cac	p.D21H	DHCR7_ENST00000407721.2_Missense_Mutation_p.D21H	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	21					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19					NADH(DB00157)	GCGGTTCTGTCATTGGTGACG	0.512000									Smith-Lemli-Opitz syndrome				57	110					0	0	0.870114	0	0
RYR1	6261	broad.mit.edu	37	19	39038955	39038955	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr19:39038955G>T	ENST00000355481.4	+	88	12293	c.12162G>T	c.(12160-12162)aaG>aaT	p.K4054N	RYR1_ENST00000360985.3_Missense_Mutation_p.K4054N|RYR1_ENST00000359596.3_Missense_Mutation_p.K4059N	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4059					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TGATCCTCAAGTTCTTCGACA	0.552000													20	141					4.35082e-09	4.89654e-09	0.592651	1	0
CERCAM	51148	broad.mit.edu	37	9	131186815	131186815	+	Missense_Mutation	SNP	G	G	C			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr9:131186815G>C	ENST00000372842.1	+	6	3598	c.454G>C	c.(454-456)Gct>Cct	p.A152P	CERCAM_ENST00000372838.4_Missense_Mutation_p.A230P			Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	230					cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						AGACCAGCTTGCTTTCTACCC	0.617000													9	110					0	0	0.307466	0	0
MFSD9	84804	broad.mit.edu	37	2	103335115	103335115	+	Missense_Mutation	SNP	C	C	G			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr2:103335115C>G	ENST00000258436.5	-	6	1232	c.1189G>C	c.(1189-1191)Gac>Cac	p.D397H		NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	397					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						AGCTGGAGGTCCGTGATGCAC	0.642000													15	33					0	0	0.539581	0	0
IGSF9B	22997	broad.mit.edu	37	11	133814178	133814178	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr11:133814178G>A	ENST00000321016.8	-	3	576	c.346C>T	c.(346-348)Ctc>Ttc	p.L116F	IGSF9B_ENST00000533871.2_Missense_Mutation_p.L116F			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	116	Ig-like 1.					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)		TCCAGCATGAGCACTTTGCAC	0.577000													3	67					0	0	0.115264	0	0
FN1	2335	broad.mit.edu	37	2	216257767	216257767	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr2:216257767G>A	ENST00000354785.4	-	25	4325	c.3956C>T	c.(3955-3957)tCa>tTa	p.S1319L	FN1_ENST00000346544.3_Intron|FN1_ENST00000345488.5_Intron|FN1_ENST00000323926.6_Missense_Mutation_p.S1319L|FN1_ENST00000446046.1_Intron|FN1_ENST00000443816.1_Intron|FN1_ENST00000432072.2_Missense_Mutation_p.S1319L|FN1_ENST00000336916.4_Intron|FN1_ENST00000421182.1_Intron|FN1_ENST00000359671.1_Intron|FN1_ENST00000357009.2_Intron|FN1_ENST00000356005.4_Intron|FN1_ENST00000357867.4_Intron			P02751	FINC_HUMAN	fibronectin 1	1319	Cell-attachment.|Fibronectin type-III 8.				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)	GTATCCTACTGAGGAGTCCAC	0.498000													17	55					0	0	0.557998	0	0
BMS1P20	96610	broad.mit.edu	37	22	22661353	22661353	+	RNA	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr22:22661353G>T	ENST00000426066.1	+	0	360					NR_027293.1																						TGGGTGGCTTGGGCAACAGCG	0.498000													20	63					1.96292e-10	2.2596e-10	0.592651	1	0
FLNC	2318	broad.mit.edu	37	7	128490525	128490525	+	Missense_Mutation	SNP	G	G	C			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr7:128490525G>C	ENST00000325888.8	+	32	5647	c.5386G>C	c.(5386-5388)Ggg>Cgg	p.G1796R	FLNC_ENST00000346177.6_Missense_Mutation_p.G1763R|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1796					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						GGTGCAGAAAGGGGAGCTCAC	0.592000													39	167					0	0	0.840704	0	0
POU3F2	5454	broad.mit.edu	37	6	99282904	99282904	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr6:99282904G>T	ENST00000328345.5	+	1	325	c.155G>T	c.(154-156)gGa>gTa	p.G52V		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2	52					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)		CAGAGCAACGGACACCCGCTC	0.796000													8	10					1.12685e-05	1.2021e-05	0.307466	1	0
ANKRD55	79722	broad.mit.edu	37	5	55412516	55412516	+	Missense_Mutation	SNP	A	A	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr5:55412516A>T	ENST00000341048.4	-	9	1042	c.891T>A	c.(889-891)aaT>aaA	p.N297K	ANKRD55_ENST00000434982.2_Missense_Mutation_p.N9K|ANKRD55_ENST00000505970.2_5'UTR|ANKRD55_ENST00000504958.2_Missense_Mutation_p.N254K	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	296										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				GCGTGCTCTCATTGATGTCCC	0.577000													64	86					0	0	0.870114	0	0
HIPK1	204851	broad.mit.edu	37	1	114498234	114498234	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr1:114498234G>T	ENST00000369558.1	+	5	1602	c.1370G>T	c.(1369-1371)cGg>cTg	p.R457L	HIPK1_ENST00000426820.2_Missense_Mutation_p.R457L|HIPK1_ENST00000406344.1_Missense_Mutation_p.R63L|HIPK1_ENST00000369553.1_Missense_Mutation_p.R63L|HIPK1_ENST00000369555.2_Missense_Mutation_p.R457L|HIPK1_ENST00000369554.2_Missense_Mutation_p.R457L|HIPK1_ENST00000369559.4_Missense_Mutation_p.R457L|HIPK1_ENST00000369561.4_Missense_Mutation_p.R457L|HIPK1_ENST00000340480.4_Missense_Mutation_p.R83L			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	457	Protein kinase.				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)		AAAGAAGCTCGGAAGTACATT	0.333000													20	119					2.21704e-12	2.61179e-12	0.639603	1	0
CYP4F11	57834	broad.mit.edu	37	19	16025652	16025652	+	Missense_Mutation	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr19:16025652C>T	ENST00000326742.7	-	9	1170	c.1169G>A	c.(1168-1170)cGg>cAg	p.R390Q	CYP4F11_ENST00000248041.7_Missense_Mutation_p.R390Q|CYP4F11_ENST00000402119.3_Missense_Mutation_p.R390Q			Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11	390					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						GGGATGCAACCGCAGGCTCTC	0.592000													88	64					0	0	0.870114	0	0
MIER3	166968	broad.mit.edu	37	5	56242801	56242801	+	Missense_Mutation	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr5:56242801C>T	ENST00000381226.3	-	3	162	c.147G>A	c.(145-147)atG>atA	p.M49I	MIER3_ENST00000381213.3_Missense_Mutation_p.M44I|MIER3_ENST00000381199.3_Missense_Mutation_p.M44I|AC016644.1_ENST00000438553.1_RNA			Q7Z3K6	MIER3_HUMAN	mesoderm induction early response 1, family member 3	44					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(2)|urinary_tract(1)	19		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)		CCTCATCCATCATTTCCTCTT	0.343000													5	42					0	0	0.184627	0	0
SVIL	6840	broad.mit.edu	37	10	29784068	29784068	+	Missense_Mutation	SNP	A	A	C			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr10:29784068A>C	ENST00000375398.2	-	21	4156	c.3707T>G	c.(3706-3708)aTt>aGt	p.I1236S	SVIL_ENST00000535393.1_Missense_Mutation_p.I150S|SVIL_ENST00000355867.4_Missense_Mutation_p.I1236S|SVIL_ENST00000375400.3_Missense_Mutation_p.I810S|SVIL_ENST00000538146.1_Missense_Mutation_p.I28S			O95425	SVIL_HUMAN	supervillin	1236					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TTTACCGCAAATGGGTGAGGC	0.557000													9	41					0	0	0.335167	0	0
EMR2	30817	broad.mit.edu	37	19	14875264	14875264	+	Missense_Mutation	SNP	G	G	C			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr19:14875264G>C	ENST00000315576.3	-	11	1516	c.1065C>G	c.(1063-1065)ttC>ttG	p.F355L	EMR2_ENST00000594294.1_Missense_Mutation_p.F306L|EMR2_ENST00000595839.1_Missense_Mutation_p.F213L|EMR2_ENST00000601345.1_Missense_Mutation_p.F355L|EMR2_ENST00000346057.1_Missense_Mutation_p.F306L|EMR2_ENST00000392964.3_Missense_Mutation_p.F94L|EMR2_ENST00000353876.1_Missense_Mutation_p.F262L|EMR2_ENST00000353005.1_Missense_Mutation_p.F213L|EMR2_ENST00000392967.2_Missense_Mutation_p.F355L|EMR2_ENST00000596991.2_Missense_Mutation_p.F355L|EMR2_ENST00000594076.1_Missense_Mutation_p.F262L|EMR2_ENST00000392965.3_Missense_Mutation_p.F355L	NM_013447.2	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	355					cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						CAGGATAACTGAAGTTCAACA	0.567000													12	27					0	0	0.479597	0	0
CSMD1	64478	broad.mit.edu	37	8	3000057	3000057	+	Silent	SNP	C	C	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr8:3000057C>A	ENST00000602557.1	-	42	6729	c.6174G>T	c.(6172-6174)acG>acT	p.T2058T	CSMD1_ENST00000602723.1_Silent_p.T2058T|CSMD1_ENST00000542608.1_Silent_p.T2057T|CSMD1_ENST00000539096.1_Silent_p.T2057T|CSMD1_ENST00000537824.1_Silent_p.T2057T|CSMD1_ENST00000520002.1_Silent_p.T2058T|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000400186.3_Silent_p.T2058T			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2058	CUB 12.					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)		GGGTTTCATGCGTTGTGCTCA	0.478000													34	53					1.62565e-12	1.92202e-12	0.760397	1	0
C11orf87	399947	broad.mit.edu	37	11	109294730	109294730	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr11:109294730C>A	ENST00000327419.6	+	2	774	c.371C>A	c.(370-372)aCc>aAc	p.T124N	RP11-708B6.2_ENST00000532992.1_RNA|RP11-708B6.2_ENST00000532929.1_RNA	NM_207645.3	NP_997528.2	Q6NUJ2	CK087_HUMAN	chromosome 11 open reading frame 87	124						integral to membrane				breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						CAGGCCCCAACCCACGCAAAG	0.687000													40	63					4.67007e-22	6.02144e-22	0.840704	1	0
NOS2	4843	broad.mit.edu	37	17	26096596	26096596	+	Silent	SNP	C	C	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr17:26096596C>A	ENST00000313735.6	-	16	2057	c.1824G>T	c.(1822-1824)tcG>tcT	p.S608S		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	608	Flavodoxin-like.		S -> L (in dbSNP:rs2297518).		arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	GCATGAAGAGCGATTTCTTCA	0.458000													64	62					4.12397e-46	5.85944e-46	0.870114	1	0
ARMC3	219681	broad.mit.edu	37	10	23326212	23326212	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr10:23326212G>T	ENST00000298032.5	+	19	2507	c.2423G>T	c.(2422-2424)aGa>aTa	p.R808I	ARMC3_ENST00000376528.4_Missense_Mutation_p.R545I|ARMC3_ENST00000409983.3_Missense_Mutation_p.R801I	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	808							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CTGGCTGATAGAATTGGCATT	0.517000													56	50					4.66136e-34	6.44134e-34	0.870114	1	0
CLIP2	7461	broad.mit.edu	37	7	73731983	73731983	+	Missense_Mutation	SNP	C	C	G			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr7:73731983C>G	ENST00000223398.6	+	2	434	c.107C>G	c.(106-108)gCt>gGt	p.A36G	CLIP2_ENST00000361545.5_Missense_Mutation_p.A36G|CLIP2_ENST00000395060.1_Missense_Mutation_p.A36G	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	36						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GCGGTGGCCGCTAGCTCCAAG	0.657000													53	163					0	0	0.870114	0	0
SNHG14	104472715	broad.mit.edu	37	15	25230176	25230176	+	RNA	SNP	T	T	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr15:25230176T>A	ENST00000551631.2	+	0	887				SNHG14_ENST00000551361.1_RNA	NR_001293.1																						AGAGATACACTATCTGCAGGA	0.378000													25	24					0	0	0.639603	0	0
OGFOD3	79701	broad.mit.edu	37	17	80352343	80352343	+	Silent	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr17:80352343C>T	ENST00000329197.5	-	9	990	c.900G>A	c.(898-900)gcG>gcA	p.A300A	OGFOD3_ENST00000313056.5_Intron					2-oxoglutarate and iron-dependent oxygenase domain containing 3																		CTCCAGCCTTCGCACCAGCAG	0.542000													44	143					0	0	0.870114	0	0
MMP2	4313	broad.mit.edu	37	16	55525751	55525751	+	Missense_Mutation	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr16:55525751C>T	ENST00000219070.4	+	8	1728	c.1219C>T	c.(1219-1221)Cac>Tac	p.H407Y	MMP2_ENST00000543485.1_Missense_Mutation_p.H331Y|MMP2_ENST00000437642.2_Missense_Mutation_p.H357Y|MMP2_ENST00000570308.1_Missense_Mutation_p.H331Y	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	407	Collagenase-like 2.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	CGAGTTTGGCCACGCCATGGG	0.577000													11	94					0	0	0.411799	0	0
ADAM19	8728	broad.mit.edu	37	5	156916128	156916128	+	Silent	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr5:156916128C>T	ENST00000257527.4	-	20	2385	c.2307G>A	c.(2305-2307)acG>acA	p.T769T	ADAM19_ENST00000394020.1_Silent_p.T771T|ADAM19_ENST00000517905.1_Silent_p.T769T|ADAM19_ENST00000430702.2_Silent_p.T502T	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	769					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGCCCTGGGGCGTCTGCAGCT	0.483000													7	26					0	0	0.361761	0	0
SLC15A2	6565	broad.mit.edu	37	3	121641106	121641106	+	Missense_Mutation	SNP	C	C	G			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr3:121641106C>G	ENST00000489711.1	+	8	1125	c.737C>G	c.(736-738)cCc>cGc	p.P246R	SLC15A2_ENST00000295605.2_Missense_Mutation_p.P215R	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	246					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	AATAAACCACCCCCTGAAGGA	0.363000													28	30					0	0	0.779181	0	0
PCDHB18P	54660	broad.mit.edu	37	5	140615935	140615935	+	RNA	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr5:140615935G>T	ENST00000526308.1	+	0	1998					NR_001281.1															endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						CCTGGCTGTCGTACCAGCTGC	0.731000													23	88					2.08973e-25	2.74854e-25	0.693898	1	0
DMD	1756	broad.mit.edu	37	X	31697668	31697668	+	Missense_Mutation	SNP	C	C	G			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chrX:31697668C>G	ENST00000357033.4	-	53	7902	c.7696G>C	c.(7696-7698)Gaa>Caa	p.E2566Q	DMD_ENST00000343523.2_Missense_Mutation_p.E106Q|DMD_ENST00000378677.2_Missense_Mutation_p.E2562Q|DMD_ENST00000474231.1_Missense_Mutation_p.E106Q|DMD_ENST00000378707.3_Missense_Mutation_p.E106Q|DMD_ENST00000541735.1_Missense_Mutation_p.E106Q|DMD_ENST00000359836.1_Missense_Mutation_p.E106Q	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2566					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TGAAGGTGTTCTTGTACTTCA	0.378000													23	66					0	0	0.681144	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49812824	49812824	+	Silent	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr10:49812824G>A	ENST00000249601.4	-	1	314	c.18C>T	c.(16-18)atC>atT	p.I6I	ARHGAP22_ENST00000491108.1_5'UTR|ARHGAP22_ENST00000435790.2_Intron|ARHGAP22_ENST00000417912.2_Silent_p.I6I	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	6					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TGGCCTGCCTGATCTTTGGGC	0.627000													8	111					0	0	0.361761	0	0
SMOC1	64093	broad.mit.edu	37	14	70477638	70477638	+	Missense_Mutation	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr14:70477638C>T	ENST00000381280.4	+	8	1085	c.832C>T	c.(832-834)Cgc>Tgc	p.R278C	SMOC1_ENST00000361956.3_Missense_Mutation_p.R278C	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	278	Thyroglobulin type-1 2.				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)		GGACACAGGGCGCCCGCTGCC	0.607000													18	45					0	0	0.575678	0	0
ZNF208	7757	broad.mit.edu	37	19	22154571	22154571	+	Missense_Mutation	SNP	C	C	G			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr19:22154571C>G	ENST00000397126.4	-	4	3413	c.3265G>C	c.(3265-3267)Gaa>Caa	p.E1089Q	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTGCCACATTCTTCACATTTG	0.428000													23	140					0	0	0.654019	0	0
TMPRSS13	84000	broad.mit.edu	37	11	117779460	117779460	+	Silent	SNP	C	C	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr11:117779460C>A	ENST00000528626.1	-	8	1117	c.1044G>T	c.(1042-1044)gcG>gcT	p.A348A	TMPRSS13_ENST00000445164.2_Silent_p.A383A|TMPRSS13_ENST00000526090.1_Silent_p.A383A|TMPRSS13_ENST00000524993.1_Silent_p.A383A|TMPRSS13_ENST00000430170.2_Silent_p.A383A	NM_001206789.1	NP_001193718.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	378	Peptidase S1.				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)		TGCTGGTGCCCGCGTACACCT	0.607000													14	19					2.31682e-05	2.45553e-05	0.479597	1	0
GAB1	2549	broad.mit.edu	37	4	144387344	144387344	+	Missense_Mutation	SNP	A	A	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr4:144387344A>T	ENST00000262995.4	+	10	2409	c.1982A>T	c.(1981-1983)gAc>gTc	p.D661V	GAB1_ENST00000262994.4_Missense_Mutation_p.D631V|GAB1_ENST00000505913.1_Missense_Mutation_p.D528V	NM_207123.2	NP_997006.1	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	631					cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					TTAGATCTCGACTTAGATTCT	0.413000													22	53					0	0	0.693898	0	0
WDR72	256764	broad.mit.edu	37	15	53908228	53908228	+	Silent	SNP	C	C	G			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr15:53908228C>G	ENST00000396328.1	-	15	2414	c.2175G>C	c.(2173-2175)ctG>ctC	p.L725L	WDR72_ENST00000360509.5_Silent_p.L725L|WDR72_ENST00000559418.1_Silent_p.L735L|WDR72_ENST00000557913.1_Silent_p.L722L	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	725										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TTCTCAGTGTCAGTGTCTTCT	0.463000													18	59					0	0	0.592651	0	0
FCGBP	8857	broad.mit.edu	37	19	40368399	40368399	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr19:40368399C>A	ENST00000221347.6	-	28	12956	c.12949G>T	c.(12949-12951)Gac>Tac	p.D4317Y		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4317						extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ATGTCACGGTCCCCACCACCC	0.612000													66	560					1.68136e-41	2.36837e-41	0.870114	1	0
KIR3DL1	3811	broad.mit.edu	37	19	55333044	55333044	+	Missense_Mutation	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr19:55333044C>T	ENST00000391728.4	+	5	713	c.680C>T	c.(679-681)tCa>tTa	p.S227L	KIR3DL1_ENST00000326542.7_Missense_Mutation_p.S227L|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.S132L|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.S227L|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.S227L|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.S227L	NM_013289.2	NP_037421.2			killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1											breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CCTTCTCTCTCAGCCCAGCCG	0.562000													23	127					0	0	0.717897	0	0
PPIH	10465	broad.mit.edu	37	1	43124140	43124140	+	Missense_Mutation	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr1:43124140C>T	ENST00000304979.3	+	1	45	c.23C>T	c.(22-24)cCt>cTt	p.P8L	PPIH_ENST00000372550.1_5'UTR	NM_006347.3	NP_006338.1	O43447	PPIH_HUMAN	peptidylprolyl isomerase H (cyclophilin H)	8					protein complex assembly|protein folding	cytoplasm|nuclear speck|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity|protein binding|ribonucleoprotein binding			endometrium(1)|large_intestine(1)|lung(2)	4	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)			L-Proline(DB00172)	AATTCAAGTCCTGTTAACCCC	0.617000													26	108					0	0	0.812448	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79058597	79058597	+	Missense_Mutation	SNP	T	T	G			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr15:79058597T>G	ENST00000388820.4	-	19	3866	c.3656A>C	c.(3655-3657)aAg>aCg	p.K1219T		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1219					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CTCATCATCCTTGAAAACCTC	0.622000													22	63					0	0	0.639603	0	0
EBP	10682	broad.mit.edu	37	X	48382176	48382176	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chrX:48382176G>T	ENST00000495186.1	+	2	840	c.17G>T	c.(16-18)gGc>gTc	p.G6V	EBP_ENST00000276096.6_Intron	NM_006579.2	NP_006570.1	Q15125	EBP_HUMAN	emopamil binding protein (sterol isomerase)	6					cholesterol biosynthetic process|skeletal system development	endoplasmic reticulum membrane|integral to plasma membrane	cholestenol delta-isomerase activity|drug transmembrane transporter activity|steroid delta-isomerase activity|transmembrane receptor activity			NS(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|stomach(1)	11						ACCAACGCGGGCCCCTTGCAC	0.478000													10	5					0.00621372	0.00639935	0.335167	1	0
MED15	51586	broad.mit.edu	37	22	20937171	20937171	+	Missense_Mutation	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr22:20937171C>T	ENST00000263205.7	+	11	1523	c.1454C>T	c.(1453-1455)tCa>tTa	p.S485L	MED15_ENST00000541476.1_Missense_Mutation_p.S419L|MED15_ENST00000542773.1_Intron|MED15_ENST00000425759.2_Missense_Mutation_p.S334L|MED15_ENST00000478831.1_3'UTR|MED15_ENST00000382974.2_Missense_Mutation_p.S374L|MED15_ENST00000292733.7_Missense_Mutation_p.S445L|MED15_ENST00000406969.1_Missense_Mutation_p.S419L	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	485	Pro-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			CCCAGCCCCTCACCGCAGCCC	0.642000													9	95					0	0	0.335167	0	0
KIAA0947	23379	broad.mit.edu	37	5	5464791	5464791	+	Missense_Mutation	SNP	G	G	C			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr5:5464791G>C	ENST00000296564.7	+	13	5566	c.5344G>C	c.(5344-5346)Gac>Cac	p.D1782H		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	1782										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						TCCGCCTGCTGACTGTAAGAA	0.493000													10	45					0	0	0.411799	0	0
CCDC74B	91409	broad.mit.edu	37	2	130897173	130897173	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr2:130897173C>A	ENST00000392984.3	-	7	2147	c.1404G>T	c.(1402-1404)agG>agT	p.R468S	CCDC74B_ENST00000409943.3_Missense_Mutation_p.R300S|CCDC74B_ENST00000310463.6_Missense_Mutation_p.R366S			Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	366										endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					TTGCCTGCAGCCTCTTCTGCC	0.637000													6	22					0.0215528	0.0219209	0.217242	1	0
CBLN4	140689	broad.mit.edu	37	20	54579040	54579040	+	Nonsense_Mutation	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr20:54579040G>T	ENST00000064571.2	-	1	1488	c.188C>A	c.(187-189)tCg>tAg	p.S63*		NM_080617.4	NP_542184.1	Q9NTU7	CBLN4_HUMAN	cerebellin 4 precursor	63						cell junction|extracellular region|synapse				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			CGCCCGGACCGATATCCCCAG	0.632000													21	70					1.64113e-05	1.74504e-05	0.592651	1	0
LGR4	55366	broad.mit.edu	37	11	27406969	27406969	+	Missense_Mutation	SNP	C	C	G			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr11:27406969C>G	ENST00000379214.4	-	5	891	c.448G>C	c.(448-450)Gaa>Caa	p.E150Q	LGR4_ENST00000480977.2_Missense_Mutation_p.E102Q|LGR4_ENST00000389858.4_Missense_Mutation_p.E126Q	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	150						integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						ACAAGTCCTTCAAAACTGTCC	0.488000													20	35					0	0	0.639603	0	0
QRICH2	84074	broad.mit.edu	37	17	74289038	74289038	+	Missense_Mutation	SNP	C	C	G			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr17:74289038C>G	ENST00000262765.5	-	4	1451	c.1272G>C	c.(1270-1272)ttG>ttC	p.L424F		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	424	Gln-rich.						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						caggttggaccaagccaggcT	0.557000													9	101					0	0	0.335167	0	0
SPG7	6687	broad.mit.edu	37	16	89597166	89597166	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr16:89597166G>A	ENST00000268704.2	+	7	952	c.937G>A	c.(937-939)Gga>Aga	p.G313R	SPG7_ENST00000341316.2_Missense_Mutation_p.G313R	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	313					cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		AGACGTGGCAGGAATGCACGA	0.532000													3	96					0	0	0.115264	0	0
THOC2	57187	broad.mit.edu	37	X	122846715	122846715	+	Missense_Mutation	SNP	T	T	C			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chrX:122846715T>C	ENST00000245838.8	-	2	146	c.115A>G	c.(115-117)Agt>Ggt	p.S39G	THOC2_ENST00000355725.4_Missense_Mutation_p.S39G	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	39					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TATGTTGAACTATCATGGCTT	0.284000													14	18					0	0	0.500413	0	0
KIAA1109	84162	broad.mit.edu	37	4	123202794	123202794	+	Missense_Mutation	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr4:123202794C>T	ENST00000264501.4	+	52	9275	c.8902C>T	c.(8902-8904)Cca>Tca	p.P2968S	KIAA1109_ENST00000388738.3_Missense_Mutation_p.P2968S|KIAA1109_ENST00000455637.1_Missense_Mutation_p.P2968S			Q2LD37	K1109_HUMAN	KIAA1109	2968					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						TCCTCAGCTACCAGAAGGCTT	0.388000													26	64					0	0	0.706142	0	0
PPP6R1	22870	broad.mit.edu	37	19	55751199	55751199	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr19:55751199C>A	ENST00000412770.2	-	13	2124	c.1558G>T	c.(1558-1560)Gac>Tac	p.D520Y	PPP6R1_ENST00000587283.1_Missense_Mutation_p.D520Y	NM_014931.3	NP_055746.3	Q9UPN7	PP6R1_HUMAN	protein phosphatase 6, regulatory subunit 1	520					regulation of phosphoprotein phosphatase activity	cytoplasm	protein phosphatase binding			breast(1)	1						CTCACCAGGTCCACCATGTTC	0.627000													18	10					1.2644e-06	1.3689e-06	0.592651	1	0
STEAP2	261729	broad.mit.edu	37	7	89856810	89856810	+	Nonsense_Mutation	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr7:89856810C>T	ENST00000287908.3	+	3	1411	c.1018C>T	c.(1018-1020)Cag>Tag	p.Q340*	STEAP2_ENST00000394621.2_Nonsense_Mutation_p.Q340*|STEAP2_ENST00000394622.2_Nonsense_Mutation_p.Q340*|STEAP2_ENST00000394632.1_Nonsense_Mutation_p.Q340*|STEAP2_ENST00000394629.2_Nonsense_Mutation_p.Q340*|STEAP2_ENST00000402625.2_Nonsense_Mutation_p.Q340*|STEAP2_ENST00000394626.1_Nonsense_Mutation_p.Q340*	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	340	Ferric oxidoreductase.				electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					GGCTTATCAGCAGGTACTGAA	0.333000													15	81					0	0	0.557998	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107423138	107423138	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr2:107423138G>T	ENST00000409382.3	-	6	2196	c.1586C>A	c.(1585-1587)tCt>tAt	p.S529Y	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.S529Y	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	529					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CCCTTTTTAAGAGTGTGGAAT	0.463000													24	128					2.2171e-23	2.88135e-23	0.740014	1	0
PRODH2	58510	broad.mit.edu	37	19	36297378	36297378	+	Missense_Mutation	SNP	C	C	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr19:36297378C>T	ENST00000301175.3	-	8	1200	c.1183G>A	c.(1183-1185)Ggg>Agg	p.G395R		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	395					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCTTCCATCCCATGGAGCTGG	0.612000													17	206					0	0	0.557998	0	0
CLCN1	1180	broad.mit.edu	37	7	143013471	143013471	+	Missense_Mutation	SNP	G	G	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr7:143013471G>A	ENST00000343257.2	+	1	253	c.166G>A	c.(166-168)Gtc>Atc	p.V56I		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	56					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CCGCCACAACGTCCACCCCAC	0.582000													18	101					0	0	0.847076	0	0
FAT2	2196	broad.mit.edu	37	5	150924836	150924836	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr5:150924836G>T	ENST00000261800.5	-	9	5864	c.5852C>A	c.(5851-5853)aCt>aAt	p.T1951N		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1951					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)			TACCAGCGCAGTGTCTTGATA	0.483000													19	30					4.96729e-08	5.4959e-08	0.575678	1	0
MSH4	4438	broad.mit.edu	37	1	76269445	76269445	+	Missense_Mutation	SNP	G	G	C			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr1:76269445G>C	ENST00000263187.3	+	2	378	c.274G>C	c.(274-276)Gca>Cca	p.A92P		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	92					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						AAGAGCTTATGCAGAAAACAC	0.303000								Mismatch excision repair (MMR)					20	27					0	0	0.557998	0	0
UBB	7314	broad.mit.edu	37	17	16285380	16285380	+	Silent	SNP	C	C	A	rs145568298		TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr17:16285380C>A	ENST00000302182.3	+	2	551	c.159C>A	c.(157-159)ggC>ggA	p.G53G	UBB_ENST00000578649.1_Intron|UBB_ENST00000535788.1_Silent_p.G53G|UBB_ENST00000395837.1_Silent_p.G53G|UBB_ENST00000395839.1_Silent_p.G53G	NM_018955.2	NP_061828.1	P0CG47	UBB_HUMAN	ubiquitin B	53	Ubiquitin-like 1.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		TGGAAGATGGCCGTACTCTTT	0.547000													10	105					7.93312e-07	8.60297e-07	0.457914	1	0
DST	667	broad.mit.edu	37	6	56399982	56399982	+	Missense_Mutation	SNP	C	C	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr6:56399982C>A	ENST00000370754.5	-	63	16785	c.16786G>T	c.(16786-16788)Gcc>Tcc	p.A5596S	DST_ENST00000361203.3_Missense_Mutation_p.A5416S|DST_ENST00000340834.4_5'UTR|DST_ENST00000370788.2_Missense_Mutation_p.A3330S|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.A3330S|DST_ENST00000446842.2_Missense_Mutation_p.A5092S|DST_ENST00000370769.4_Missense_Mutation_p.A5418S|DST_ENST00000244364.6_Missense_Mutation_p.A3004S			Q03001	DYST_HUMAN	dystonin	5416					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTCTGATTGGCCACAAGCTCC	0.532000													68	75					1.20111e-47	1.714e-47	0.870114	1	0
FLG2	388698	broad.mit.edu	37	1	152325242	152325242	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr1:152325242G>T	ENST00000388718.5	-	3	5092	c.5020C>A	c.(5020-5022)Cat>Aat	p.H1674N	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1674							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)			GCTTGACCATGAGTGTGTCCT	0.502000													223	611					2.26364e-115	3.29486e-115	0.870114	1	0
CRYAB	1410	broad.mit.edu	37	11	111780950	111780950	+	Missense_Mutation	SNP	G	G	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr11:111780950G>T	ENST00000533971.1	-	2	516	c.425C>A	c.(424-426)cCa>cAa	p.P142Q	CRYAB_ENST00000527950.1_Intron|CRYAB_ENST00000227251.3_Intron|CRYAB_ENST00000531198.1_Intron|CRYAB_ENST00000525823.1_Intron|CRYAB_ENST00000533475.1_Intron|CRYAB_ENST00000533280.1_Intron|CRYAB_ENST00000526180.1_Intron			P02511	CRYAB_HUMAN	crystallin, alpha B	0					anti-apoptosis|muscle contraction|negative regulation of intracellular transport|protein folding|protein homooligomerization|response to heat	cytoplasm|nucleus	protein homodimerization activity|structural constituent of eye lens|unfolded protein binding			endometrium(1)|large_intestine(1)|lung(2)|skin(4)	8		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)		GTTATGGCTTGGGACTGGAAT	0.418000													4	11					0.00198382	0.00204953	0.248553	1	0
CASZ1	54897	broad.mit.edu	37	1	10699141	10699146	+	In_Frame_Del	DEL	TCGTCG	TCGTCG	-			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr1:10699141_10699146delTCGTCG	ENST00000377022.3	-	21	5450_5455	c.5133_5138delCGACGA	c.(5131-5139)gag>ga	p.DDE1711del		NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1711	Asp-rich.|Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.D1711_D1712delDD(1)		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)		GCGCAGgtcctcgtcgtcgtcgtcct	0.752													3	3	---	---	---	---					
PADI6	353238	broad.mit.edu	37	1	17723476	17723477	+	RNA	INS	-	-	CA	rs67024576	by1000genomes	TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr1:17723476_17723477insCA	ENST00000434762.2	+	0	1669							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	AGGAATGCACCCAGGTGGCTGG	0.629													5	5	---	---	---	---					
OTUD3	23252	broad.mit.edu	37	1	20220953	20220953	+	Frame_Shift_Del	DEL	C	C	-			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr1:20220953delC	ENST00000375120.3	+	3	464	c.463delC	c.(463-465)ttfs	p.L155fs	OTUD3_ENST00000466697.1_3'UTR	NM_015207.1	NP_056022.1	Q5T2D3	OTUD3_HUMAN	OTU domain containing 3	155	OTU.									breast(1)|kidney(2)|large_intestine(4)|lung(1)|skin(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GATTCATCAACTTAATGCCCC	0.418													9	97	---	---	---	---					
NUP210L	91181	broad.mit.edu	37	1	154067525	154067526	+	Frame_Shift_Ins	INS	-	-	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr1:154067525_154067526insA	ENST00000368559.3	-	15	2143_2144	c.2072_2073insT	c.(2071-2073)tgafs	p.*691fs	NUP210L_ENST00000271854.3_Frame_Shift_Ins_p.*691fs	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	691						integral to membrane				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)			CATTCAATTCCAAAAAAAATCG	0.475													14	97	---	---	---	---					
UCHL5	51377	broad.mit.edu	37	1	192998517	192998517	+	Splice_Site	DEL	C	C	-			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr1:192998517delC	ENST00000367452.4	-	5	833		c.e5+1		UCHL5_ENST00000530098.2_Splice_Site|UCHL5_ENST00000367455.3_Splice_Site|UCHL5_ENST00000367448.1_Splice_Site|UCHL5_ENST00000367454.1_Splice_Site|UCHL5_ENST00000367449.1_Splice_Site|UCHL5_ENST00000367451.4_Splice_Site			Q9Y5K5	UCHL5_HUMAN	ubiquitin carboxyl-terminal hydrolase L5						DNA recombination|DNA repair|protein deubiquitination|regulation of proteasomal protein catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytosol|Ino80 complex|proteasome complex	endopeptidase inhibitor activity|omega peptidase activity|proteasome binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(1)|lung(9)|ovary(1)	19						AGTCTCTTTACCTGGCGAAAC	0.294													8	88	---	---	---	---					
IGKV1-27	28935	broad.mit.edu	37	2	89513107	89513108	+	RNA	INS	-	-	T			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr2:89513107_89513108insT	ENST00000498435.1	-	0	181_182																											ATAATTGCTAATGCCCTGACTC	0.505													40	66	---	---	---	---					
ANKRD36	375248	broad.mit.edu	37	2	97808574	97808575	+	Splice_Site	INS	-	-	A			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr2:97808574_97808575insA	ENST00000420699.2	+	8	1145		c.e8+2		ANKRD36_ENST00000461153.2_Splice_Site	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36									p.?(1)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CTGGGACAGGTATTTTGGAATA	0.366													12	9	---	---	---	---					
TTN	7273	broad.mit.edu	37	2	179526515	179526515	+	Frame_Shift_Del	DEL	G	G	-			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr2:179526515delG	ENST00000589042.1	-	180	37480	c.37256delC	c.(37255-37257)ctfs	p.P12419fs	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10609							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)			AGGCTTTTTAGGAGGAGCCGA	0.388													37	299	---	---	---	---					
ASIC4	55515	broad.mit.edu	37	2	220399980	220399980	+	Frame_Shift_Del	DEL	G	G	-			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr2:220399980delG	ENST00000358078.4	+	6	1558	c.1544delG	c.(1543-1545)agfs	p.R515fs	ASIC4_ENST00000347842.3_Frame_Shift_Del_p.R496fs			Q96FT7	ACCN4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	496						integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity										TCCATGGTCAGGATCCCCAAC	0.617													17	39	---	---	---	---					
TRPM8	79054	broad.mit.edu	37	2	234879010	234879010	+	Frame_Shift_Del	DEL	C	C	-			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr2:234879010delC	ENST00000324695.4	+	17	2335	c.2295delC	c.(2293-2295)cafs	p.H765fs	TRPM8_ENST00000433712.2_Intron	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	765						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)	CGGTGCCACACCCCCCCGAGC	0.577													8	722	---	---	---	---					
UBE2E1-AS1	100874092	broad.mit.edu	37	3	23847374	23847376	+	RNA	DEL	GAG	GAG	-			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr3:23847374_23847376delGAG	ENST00000426702.1	-	0	87																											gggtgagggcgaggaggaggagg	0.690													2	4	---	---	---	---					
HOXA1	3198	broad.mit.edu	37	7	27135317	27135319	+	In_Frame_Del	DEL	TGG	TGG	-	rs2074398	byFrequency	TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr7:27135317_27135319delTGG	ENST00000343060.4	-	1	274_276	c.213_215delCCA	c.(211-216)cat>ca	p.HH71del	HOXA1_ENST00000355633.5_In_Frame_Del_p.HH71del|HOTAIRM1_ENST00000495032.1_RNA	NM_005522.4	NP_005513.1	P49639	HXA1_HUMAN	homeobox A1	71	Poly-His.					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ggggtggcgatggtggtggtggt	0.640											OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	7	82	---	---	---	---					
MAFA	389692	broad.mit.edu	37	8	144511954	144511956	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr8:144511954_144511956delTGG	ENST00000333480.2	-	1	620_622	c.621_623delCCA	c.(619-624)cat>ca	p.HH207del	MAFA_ENST00000528185.1_5'UTR	NM_201589.3	NP_963883.2	Q8NHW3	MAFA_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog A	207	His-rich.				insulin secretion|nitric oxide mediated signal transduction|response to glucose stimulus	nucleus	protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.H208delH(3)		breast(1)|lung(1)|upper_aerodigestive_tract(2)	4	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.237)			CGCGCCGCCAtggtggtggtggt	0.744										HNSCC(29;0.082)			2	4	---	---	---	---					
NEUROD4	58158	broad.mit.edu	37	12	55420429	55420429	+	Frame_Shift_Del	DEL	G	G	-			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr12:55420429delG	ENST00000242994.3	+	2	584	c.206delG	c.(205-207)aafs	p.R70fs		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	70					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						AAACCTAAGAGAAGGGGTCCC	0.493													14	18	---	---	---	---					
CCDC88C	440193	broad.mit.edu	37	14	91739301	91739303	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr14:91739301_91739303delCAG	ENST00000389857.6	-	30	5839_5841	c.5753_5755delCTG	c.(5752-5757)ggc>g	p.AG1918del	CCDC88C_ENST00000331194.7_In_Frame_Del_p.AG442del	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1918					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CTGCCACTGCCAGCAGCAGCAGC	0.690													2	4	---	---	---	---					
SNHG14	104472715	broad.mit.edu	37	15	25342921	25342924	+	RNA	DEL	ACAA	ACAA	-			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr15:25342921_25342924delACAA	ENST00000546682.1	+	0	1229				SNHG14_ENST00000553108.1_RNA|SNHG14_ENST00000549804.2_RNA	NR_003361.1																						GCCATGCCAGACAAACACATGGAG	0.456													25	98	---	---	---	---					
VPS18	57617	broad.mit.edu	37	15	41192082	41192083	+	Frame_Shift_Ins	INS	-	-	G	rs138996041	byFrequency	TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr15:41192082_41192083insG	ENST00000220509.5	+	4	1405_1406	c.1066_1067insG	c.(1066-1068)ggafs	p.G356fs	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	356					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GGTGGTGCTGCGGGATCACTTC	0.619													19	65	---	---	---	---					
MYH1	4619	broad.mit.edu	37	17	10403977	10403977	+	Frame_Shift_Del	DEL	G	G	-			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr17:10403977delG	ENST00000226207.5	-	28	3925	c.3831delC	c.(3829-3831)ctfs	p.L1277fs	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1277						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCTGTGCTGTGAGGTCATTGA	0.483													25	55	---	---	---	---					
TTLL6	284076	broad.mit.edu	37	17	46847384	46847384	+	Frame_Shift_Del	DEL	C	C	-			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr17:46847384delC	ENST00000393382.3	-	14	2257	c.2116delG	c.(2116-2118)ctfs	p.A706fs	TTLL6_ENST00000433608.2_Frame_Shift_Del_p.A399fs	NM_001130918.1	NP_001124390.1	Q8N841	TTLL6_HUMAN	tubulin tyrosine ligase-like family, member 6	658						cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GCGGTCACAGCCAGGGTTGGC	0.522													69	59	---	---	---	---					
ITGA3	3675	broad.mit.edu	37	17	48148244	48148245	+	Frame_Shift_Ins	INS	-	-	AG			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr17:48148244_48148245insAG	ENST00000320031.8	+	5	1031_1032	c.701_702insAG	c.(700-702)ttcfs	p.F234fs	ITGA3_ENST00000544892.1_Frame_Shift_Ins_p.F9fs|ITGA3_ENST00000007722.7_Frame_Shift_Ins_p.F234fs	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	234					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						GAGTGGGACTTATCTGAGTATA	0.495													86	389	---	---	---	---					
OR10H2	26538	broad.mit.edu	37	19	15839237	15839237	+	Frame_Shift_Del	DEL	C	C	-			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr19:15839237delC	ENST00000305899.3	+	1	404	c.384delC	c.(382-384)cafs	p.H128fs		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	128					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					CCATCTGCCACCCCCTGCGCT	0.647													26	32	---	---	---	---					
SBSN	374897	broad.mit.edu	37	19	36019046	36019047	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr19:36019046_36019047delCT	ENST00000452271.2	-	1	165_166	c.137_138delAG	c.(136-138)gfs	p.E46fs	SBSN_ENST00000518157.1_Frame_Shift_Del_p.E46fs	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	46						extracellular region		p.E46fs*27(1)		large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCTTGCCCACCTCTCTCTCTGC	0.579													7	452	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11085429	11085431	+	RNA	DEL	ACC	ACC	-			TCGA-99-8025-01A-11D-2238-08	TCGA-99-8025-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dcfb0d1-85c6-453b-9c2d-774545504b1c	d25a3ca9-39ef-4fff-968a-1f2056aaf43e	g.chr21:11085429_11085431delACC	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		caccaccactaccaccaccacca	0.507													2	4	---	---	---	---					
