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_status	validation_method	validation_tumor_sample	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
AGMAT	79814	broad.mit.edu	37	1	15904231	15904231	+	Silent	SNP	G	A	A			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr1:15904231G>A	uc001awv.1	-	5	992	c.849C>T	c.(847-849)GCC>GCT	p.A283A	DNAJC16_uc001awu.2_Intron	NM_024758	NP_079034	Q9BSE5	SPEB_HUMAN	agmatine ureohydrolase (agmatinase) precursor	283					putrescine biosynthetic process|spermidine biosynthetic process	mitochondrion	agmatinase activity|metal ion binding			skin(1)	1		Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649)		CTGGCGCATAGGCAGGATCCA	0.527													5	59					0	0	0.001168	0	0
ESPNP	284729	broad.mit.edu	37	1	17026466	17026466	+	Missense_Mutation	SNP	C	T	T	rs114606754	by1000genomes	TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr1:17026466C>T	uc001azn.1	-	7	1220	c.1106G>A	c.(1105-1107)CGC>CAC	p.R369H		NR_026567				RecName: Full=Espin; AltName: Full=Ectoplasmic specialization protein; AltName: Full=Autosomal recessive deafness type 36 protein;												0						GCGGGGCTTGCGGCTGGAGTC	0.736													3	7					0	0	0.004672	0	0
HOOK1	51361	broad.mit.edu	37	1	60314160	60314160	+	Missense_Mutation	SNP	G	A	A	rs143143349		TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr1:60314160G>A	uc009wad.2	+	12	1205	c.1103G>A	c.(1102-1104)CGT>CAT	p.R368H	HOOK1_uc001czo.2_Missense_Mutation_p.R368H|HOOK1_uc001czp.2_RNA|HOOK1_uc010oor.1_Missense_Mutation_p.R326H	NM_015888	NP_056972	Q9UJC3	HOOK1_HUMAN	hook homolog 1	368	Potential.|Sufficient for interaction with microtubules.				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			ovary(1)|breast(1)	2	all_cancers(7;0.000129)					AATGCAGCACGTACACAATTA	0.308													42	20					0	0	0.011902	0	0
LRRC7	57554	broad.mit.edu	37	1	70452024	70452024	+	Missense_Mutation	SNP	C	T	T			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr1:70452024C>T	uc001dep.2	+	8	802	c.772C>T	c.(772-774)CTC>TTC	p.L258F	LRRC7_uc009wbg.2_5'UTR	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	258	LRR 11.					centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						CCTTGAGGACCTCTTATTGTC	0.328													25	19					0	0	0.003954	0	0
FUBP1	8880	broad.mit.edu	37	1	78430845	78430845	+	Nonsense_Mutation	SNP	C	A	A			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr1:78430845C>A	uc001dii.2	-	8	633	c.544G>T	c.(544-546)GGA>TGA	p.G182*	FUBP1_uc001dih.3_RNA|FUBP1_uc010orm.1_Nonsense_Mutation_p.G203*	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	far upstream element-binding protein	182					transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(2)|lung(1)	3						TTTCCCGGTCCATCGCCATGA	0.408													8	122					4.68919e-08	5.31908e-08	0.008291	1	0
NRAS	4893	broad.mit.edu	37	1	115256530	115256530	+	Missense_Mutation	SNP	G	T	T	rs121913254		TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr1:115256530G>T	uc009wgu.2	-	3	435	c.181C>A	c.(181-183)CAA>AAA	p.Q61K		NM_002524	NP_002515	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61	GTP.		Q -> K (in neuroblastoma cell).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(757)|p.Q61K(537)|p.Q61L(147)|p.Q61H(95)|p.Q61P(21)|p.Q61E(9)|p.Q61?(4)|p.Q61Q(3)|p.Q61_E62>HK(1)		haematopoietic_and_lymphoid_tissue(1008)|skin(956)|thyroid(334)|large_intestine(62)|NS(60)|soft_tissue(32)|lung(31)|upper_aerodigestive_tract(25)|urinary_tract(12)|liver(10)|adrenal_gland(9)|autonomic_ganglia(8)|testis(8)|central_nervous_system(8)|prostate(8)|breast(7)|biliary_tract(6)|ovary(6)|stomach(5)|pancreas(5)|endometrium(2)|kidney(2)|cervix(2)|eye(1)	2607	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458	Q61K(HT1080_SOFT_TISSUE)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(TYKNU_OVARY)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH2087_LUNG)|Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HS944T_SKIN)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(HS936T_SKIN)|Q61K(NCIH1299_LUNG)	50	Mis		melanoma|MM|AML|thyroid				Noonan_syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			87	47					1.53041e-28	1.81736e-28	0.014410	1	0
C1orf107	27042	broad.mit.edu	37	1	210016932	210016932	+	Missense_Mutation	SNP	C	G	G			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr1:210016932C>G	uc001hhr.1	+	11	1994	c.1918C>G	c.(1918-1920)CAC>GAC	p.H640D	C1orf107_uc009xcu.1_Missense_Mutation_p.H355D	NM_014388	NP_055203	Q68CQ4	DIEXF_HUMAN	digestive-organ expansion factor homolog	640					multicellular organismal development	nucleus					0				OV - Ovarian serous cystadenocarcinoma(81;0.0367)		GAATTTTACCCACATCTGCGA	0.458													15	52					0	0	0.002450	0	0
HK1	3098	broad.mit.edu	37	10	71136809	71136809	+	Missense_Mutation	SNP	G	A	A			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr10:71136809G>A	uc001jpl.3	+	8	1096	c.995G>A	c.(994-996)GGG>GAG	p.G332E	HK1_uc001jpg.3_Missense_Mutation_p.G320E|HK1_uc001jph.3_Missense_Mutation_p.G336E|HK1_uc001jpi.3_Missense_Mutation_p.G336E|HK1_uc001jpj.3_Missense_Mutation_p.G367E|HK1_uc001jpk.3_Missense_Mutation_p.G331E|HK1_uc009xqd.2_Missense_Mutation_p.G210E	NM_000188	NP_000179	P19367	HXK1_HUMAN	hexokinase 1 isoform HKI	332	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			ovary(1)	1						CTCACCCGAGGGAAGTTTAAC	0.542													5	124					0	0	0.001984	0	0
NPM3	10360	broad.mit.edu	37	10	103541522	103541522	+	Missense_Mutation	SNP	G	A	A			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr10:103541522G>A	uc001ktt.2	-	5	531	c.508C>T	c.(508-510)CCT>TCT	p.P170S		NM_006993	NP_008924	O75607	NPM3_HUMAN	nucleophosmin/nucleoplasmin 3	170							nucleic acid binding				0		Colorectal(252;0.122)		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)		TTTTTGGCAGGAAGGATGGGG	0.443											OREG0020469	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	367					0	0	0.001984	0	0
PPP2R2D	55844	broad.mit.edu	37	10	133748026	133748026	+	Silent	SNP	C	T	T			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr10:133748026C>T	uc001lks.2	+	1	309	c.66C>T	c.(64-66)GGC>GGT	p.G22G	PPP2R2D_uc001lkr.2_5'UTR|PPP2R2D_uc001lkt.2_5'UTR	NM_018461	NP_060931	Q66LE6	2ABD_HUMAN	protein phosphatase 2, regulatory subunit B,	55	WD 1.				cell division|exit from mitosis|mitosis|signal transduction	cytoplasm|protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			skin(1)	1		all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21)		GAGACAAGGGCGGCAGAGTTG	0.413													47	260					0	0	0.014410	0	0
OR1S1	219959	broad.mit.edu	37	11	57982676	57982676	+	Missense_Mutation	SNP	G	A	A	rs117920455	by1000genomes	TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr11:57982676G>A	uc010rkc.1	+	1	460	c.460G>A	c.(460-462)GGC>AGC	p.G154S		NM_001004458	NP_001004458	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S,	154	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)	1		Breast(21;0.0589)				GCCCAGGTTCGGCATTTTGCT	0.463													6	280					0	0	0.001984	0	0
ACTN3	89	broad.mit.edu	37	11	66323638	66323638	+	Silent	SNP	G	A	A			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr11:66323638G>A	uc001oio.1	+	8	759	c.741G>A	c.(739-741)CCG>CCA	p.P247P	ACTN3_uc010rpi.1_RNA	NM_001104	NP_001095	Q08043	ACTN3_HUMAN	actinin, alpha 3	247	Actin-binding.|CH 2.				focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle				0						CCCCAAAGCCGGATGAGAAGG	0.602													47	100					0	0	0.014410	0	0
MLL	4297	broad.mit.edu	37	11	118380710	118380710	+	Missense_Mutation	SNP	A	G	G			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr11:118380710A>G	uc001pta.2	+	30	10962	c.10939A>G	c.(10939-10941)ATG>GTG	p.M3647V	MLL_uc001ptb.2_Missense_Mutation_p.M3650V	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	3647					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		CTCCCCACTGATGCTTTGGCT	0.358			T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								6	91					0	0	0.003080	0	0
AVPR1A	552	broad.mit.edu	37	12	63543713	63543713	+	Missense_Mutation	SNP	C	T	T			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr12:63543713C>T	uc001sro.1	-	1	2878	c.904G>A	c.(904-906)GTC>ATC	p.V302I		NM_000706	NP_000697	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	302	Helical; Name=6; (Potential).				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity				0			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	GCCCAGCAGACGATGTAAGCC	0.567													6	142					0	0	0.001984	0	0
XPO4	64328	broad.mit.edu	37	13	21381759	21381759	+	Missense_Mutation	SNP	C	G	G			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr13:21381759C>G	uc001unq.3	-	13	1690	c.1654G>C	c.(1654-1656)GAT>CAT	p.D552H		NM_022459	NP_071904	Q9C0E2	XPO4_HUMAN	exportin 4	552					protein transport	cytoplasm|nucleus	protein binding			large_intestine(1)|ovary(1)|kidney(1)	3		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		TGAGTATCATCAGCTAAGAGG	0.289													5	118					0	0	0.001168	0	0
CSNK1A1L	122011	broad.mit.edu	37	13	37678952	37678952	+	Missense_Mutation	SNP	G	A	A			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr13:37678952G>A	uc001uwm.1	-	1	850	c.442C>T	c.(442-444)CGT>TGT	p.R148C		NM_145203	NP_660204	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	148	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			large_intestine(1)	1		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		TTACAGTGACGCCCAGTACCC	0.408													35	143					0	0	0.004289	0	0
UGGT2	55757	broad.mit.edu	37	13	96489363	96489363	+	Nonsense_Mutation	SNP	G	A	A			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr13:96489363G>A	uc001vmt.2	-	37	4548	c.4378C>T	c.(4378-4380)CAA>TAA	p.Q1460*	UGGT2_uc001vms.2_Nonsense_Mutation_p.Q180*	NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN	UDP-glucose ceramide glucosyltransferase-like 2	1460	Glucosyltransferase.				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			ovary(2)|central_nervous_system(1)	3						TTGGCTCTTTGTTTGGATTCA	0.358													21	46					0	0	0.014323	0	0
GPHN	10243	broad.mit.edu	37	14	67576892	67576892	+	Silent	SNP	G	A	A			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr14:67576892G>A	uc001xiy.2	+	13	2351	c.1230G>A	c.(1228-1230)CGG>CGA	p.R410R	GPHN_uc001xix.2_Silent_p.R443R|GPHN_uc010tss.1_Silent_p.R456R|GPHN_uc010tst.1_Silent_p.R379R|GPHN_uc010tsu.1_Silent_p.R333R	NM_001024218	NP_001019389	Q9NQX3	GEPH_HUMAN	gephyrin isoform 2	410	MPT adenylyltransferase.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			ovary(2)	2		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		AAGTCATGCGGGTTACAACAG	0.458			T	MLL	AL								6	189					0	0	0.001984	0	0
TTLL5	23093	broad.mit.edu	37	14	76349031	76349031	+	Missense_Mutation	SNP	A	G	G			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr14:76349031A>G	uc001xrx.2	+	30	3731	c.3526A>G	c.(3526-3528)ATC>GTC	p.I1176V	TTLL5_uc010ask.1_Missense_Mutation_p.I1191V|TTLL5_uc001xrz.2_Missense_Mutation_p.I751V|TTLL5_uc001xsa.2_Missense_Mutation_p.I250V	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	1176					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			ovary(2)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.029)		TTTGTAGGCAATCTTTGGCAG	0.413													40	37					0	0	0.014410	0	0
ADAM6	8755	broad.mit.edu	37	14	106208372	106208372	+	RNA	SNP	C	T	T			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr14:106208372C>T	uc010tyt.1	-	3627		c.58842G>A			uc001yrs.2_Intron|uc001yrt.2_Intron|uc001yrw.1_Intron|uc001yrx.1_Intron|uc001yrz.1_Intron|uc001yse.2_Silent_p.E42E|uc001ysf.2_Silent_p.E42E					Parts of antibodies, mostly variable regions.												0						TGTACTGCTCCTCCCGCGGCT	0.577													10	211					0	0	0.006214	0	0
GOLGA6B	55889	broad.mit.edu	37	15	72954602	72954602	+	Missense_Mutation	SNP	C	T	T			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr15:72954602C>T	uc010uks.1	+	11	898	c.857C>T	c.(856-858)CCA>CTA	p.P286L		NM_018652	NP_061122	A6NDN3	GOG6B_HUMAN	golgi autoantigen, golgin subfamily a, 6B	286	Potential.										0						GCTAAGCCCCCATCCCTGGCG	0.527													4	34					0	0	0.009096	0	0
PCSK6	5046	broad.mit.edu	37	15	101929754	101929754	+	Missense_Mutation	SNP	G	A	A			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr15:101929754G>A	uc002bwy.2	-	10	1539	c.1225C>T	c.(1225-1227)CGT>TGT	p.R409C	PCSK6_uc010bpd.2_Missense_Mutation_p.R279C|PCSK6_uc010bpe.2_Missense_Mutation_p.R409C|PCSK6_uc002bxa.2_Missense_Mutation_p.R409C|PCSK6_uc002bxb.2_Missense_Mutation_p.R409C|PCSK6_uc002bxc.1_Missense_Mutation_p.R409C|PCSK6_uc002bxd.1_Missense_Mutation_p.R409C|PCSK6_uc002bxe.2_Missense_Mutation_p.R409C|PCSK6_uc002bxg.1_Missense_Mutation_p.R409C	NM_002570	NP_002561	P29122	PCSK6_HUMAN	paired basic amino acid cleaving system 4	409	Catalytic.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			pancreas(2)	2	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CAGCGCTGACGCAGATCCGTG	0.582													38	57					0	0	0.009718	0	0
FLJ36000	284124	broad.mit.edu	37	17	21904194	21904194	+	RNA	SNP	C	A	A			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr17:21904194C>A	uc002gza.2	+	1		c.133C>A				NR_027084				Homo sapiens cDNA FLJ36000 fis, clone TESTI2015180.												0						agcctcaggcctgccaggacg	0													5	68					0.00116845	0.00128698	0.001168	1	0
IKZF3	22806	broad.mit.edu	37	17	37985663	37985663	+	Missense_Mutation	SNP	G	A	A			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr17:37985663G>A	uc002hsu.2	-	3	202	c.140C>T	c.(139-141)GCC>GTC	p.A47V	IKZF3_uc002htd.2_Intron|IKZF3_uc010cwd.2_Missense_Mutation_p.A47V|IKZF3_uc002hsv.2_Intron|IKZF3_uc010cwe.2_Missense_Mutation_p.A47V|IKZF3_uc010cwf.2_Missense_Mutation_p.A47V|IKZF3_uc010cwg.2_Missense_Mutation_p.A47V|IKZF3_uc002hsw.2_Missense_Mutation_p.A47V|IKZF3_uc002hsx.2_Missense_Mutation_p.A47V|IKZF3_uc002hsy.2_Missense_Mutation_p.A47V|IKZF3_uc002hsz.2_Missense_Mutation_p.A47V|IKZF3_uc002hta.2_Missense_Mutation_p.A47V|IKZF3_uc002htb.2_RNA|IKZF3_uc010cwh.2_Missense_Mutation_p.A47V|IKZF3_uc002htc.2_5'UTR	NM_012481	NP_036613	Q9UKT9	IKZF3_HUMAN	aiolos isoform 1	47					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(2)|kidney(2)|skin(2)	6	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			ATCTTCATTGGCTGGGCCTTC	0.403													5	89					0	0	0.000602	0	0
KRT9	3857	broad.mit.edu	37	17	39725736	39725736	+	Missense_Mutation	SNP	T	A	A			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr17:39725736T>A	uc002hxe.3	-	4	1052	c.986A>T	c.(985-987)GAG>GTG	p.E329V	JUP_uc010wfs.1_Intron	NM_000226	NP_000217	P35527	K1C9_HUMAN	keratin 9	329	Rod.|Coil 2.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)|pancreas(1)	3		Breast(137;0.000307)				CTGCTCATACTCCTGACGCAT	0.428													30	46					0	0	0.010818	0	0
CDH19	28513	broad.mit.edu	37	18	64218460	64218460	+	Missense_Mutation	SNP	G	T	T			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr18:64218460G>T	uc002lkc.1	-	5	784	c.646C>A	c.(646-648)CTG>ATG	p.L216M	CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_Missense_Mutation_p.L216M|CDH19_uc002lkd.2_Missense_Mutation_p.L216M	NM_021153	NP_066976	Q9H159	CAD19_HUMAN	cadherin 19, type 2 preproprotein	216	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2		Esophageal squamous(42;0.0132)				TCATCTTGCAGTTCTCTATCC	0.308													7	162					0.00307968	0.00334365	0.003080	1	0
INO80B	83444	broad.mit.edu	37	2	74682279	74682279	+	Silent	SNP	G	A	A			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr2:74682279G>A	uc002slg.2	+	1	81	c.36G>A	c.(34-36)GGG>GGA	p.G12G	INO80B_uc002slf.1_5'UTR|INO80B_uc010yrr.1_5'UTR|WBP1_uc002slh.1_RNA|INO80B_uc002sli.1_RNA|INO80B_uc010yrs.1_5'UTR	NM_031288	NP_112578	Q9C086	IN80B_HUMAN	high mobility group AT-hook 1-like 4	12					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|nucleolus	metal ion binding|protein binding			pancreas(1)	1						GCACCTCTGGGGCTATGGAGG	0.572													34	115					0	0	0.004289	0	0
KCNH7	90134	broad.mit.edu	37	2	163693238	163693238	+	Missense_Mutation	SNP	C	T	T			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr2:163693238C>T	uc002uch.1	-	2	328	c.116G>A	c.(115-117)TGT>TAT	p.C39Y	KCNH7_uc002uci.2_Missense_Mutation_p.C39Y	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H,	39	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			ovary(3)|skin(2)	5					Ibutilide(DB00308)	AATGATGGCACAGTTCTGCAC	0.423													18	60					0	0	0.006122	0	0
MSTN	2660	broad.mit.edu	37	2	190927295	190927295	+	Missense_Mutation	SNP	T	G	G			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr2:190927295T>G	uc002urp.2	-	1	161	c.28A>C	c.(28-30)ATT>CTT	p.I10L		NM_005259	NP_005250	O14793	GDF8_HUMAN	myostatin precursor	10					muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			lung(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			AACAGGTAAATATAAACACAG	0.323													40	82					0	0	0.014410	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	T	T	rs121913500		TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr2:209113112C>T	uc002vcs.2	-	4	641	c.395G>A	c.(394-396)CGT>CAT	p.R132H	IDH1_uc002vct.2_Missense_Mutation_p.R132H|IDH1_uc002vcu.2_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132		Substrate.	R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2023)|p.R132C(344)|p.R132?(210)|p.R132G(117)|p.R132S(79)|p.R132L(58)|p.R132V(1)|p.G131_R132>VL(1)		central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1)	2868				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma 								32	62					0	0	0.004289	0	0
ALPP	250	broad.mit.edu	37	2	233244328	233244328	+	Missense_Mutation	SNP	C	T	T			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr2:233244328C>T	uc002vsq.2	+	4	580	c.415C>T	c.(415-417)CGC>TGC	p.R139C	ALPP_uc002vsr.2_5'Flank	NM_001632	NP_001623	P05187	PPB1_HUMAN	placental alkaline phosphatase preproprotein	139						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			ovary(1)	1		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		TGCAGCCGCCCGCTTTAACCA	0.607													3	31					0	0	0.004672	0	0
ANGPT4	51378	broad.mit.edu	37	20	861878	861878	+	Missense_Mutation	SNP	C	T	T			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr20:861878C>T	uc002wei.2	-	5	990	c.887G>A	c.(886-888)CGC>CAC	p.R296H	ANGPT4_uc010zpn.1_Missense_Mutation_p.R290H	NM_015985	NP_057069	Q9Y264	ANGP4_HUMAN	angiopoietin 4 precursor	296	Fibrinogen C-terminal.				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			ovary(2)	2						GGCCCCAGAGCGCTGGATCTC	0.562													11	40					0	0	0.013537	0	0
POTEH	23784	broad.mit.edu	37	22	16287514	16287514	+	Silent	SNP	G	A	A			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr22:16287514G>A	uc010gqp.2	-	1	424	c.372C>T	c.(370-372)GAC>GAT	p.D124D	POTEH_uc002zlg.1_5'Flank|POTEH_uc002zlh.1_5'Flank|POTEH_uc002zlj.1_Intron	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	ANKRD26-like family C, member 3	124										skin(1)	1						TAGCAGAGTCGTCGTGGTCTC	0.607													40	363					0	0	0.014410	0	0
ATP2B2	491	broad.mit.edu	37	3	10381974	10381974	+	Missense_Mutation	SNP	C	A	A			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr3:10381974C>A	uc003bvt.2	-	21	3628	c.3189G>T	c.(3187-3189)CAG>CAT	p.Q1063H	ATP2B2_uc003bvv.2_Missense_Mutation_p.Q1018H|ATP2B2_uc003bvw.2_Missense_Mutation_p.Q1018H|ATP2B2_uc010hdo.2_Missense_Mutation_p.Q768H	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	plasma membrane calcium ATPase 2 isoform 1	1063	Helical; (Potential).				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			ovary(3)|skin(2)|central_nervous_system(1)	6						ACCACATCCACTGGTCCAGCT	0.557													4	67					0.00024832	0.000277534	0.009096	1	0
SLC12A7	10723	broad.mit.edu	37	5	1075520	1075520	+	Missense_Mutation	SNP	C	A	A			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr5:1075520C>A	uc003jbu.2	-	15	1999	c.1933G>T	c.(1933-1935)GCT>TCT	p.A645S		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride	645	Helical; (Potential).				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			skin(2)|large_intestine(1)|ovary(1)	4	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	ATGCAGCCAGCGATGAGCATG	0.637													3	34					0.004672	0.00500101	0.004672	1	0
DNAH5	1767	broad.mit.edu	37	5	13719099	13719099	+	Missense_Mutation	SNP	T	C	C			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr5:13719099T>C	uc003jfd.2	-	72	12433	c.12391A>G	c.(12391-12393)ACC>GCC	p.T4131A	DNAH5_uc003jfc.2_Missense_Mutation_p.T299A	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4131	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					GCCTCGGTGGTCATCCAGAGG	0.473									Kartagener_syndrome				54	86					0	0	0.014410	0	0
DNAH5	1767	broad.mit.edu	37	5	13841810	13841810	+	Silent	SNP	G	A	A			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr5:13841810G>A	uc003jfd.2	-	33	5517	c.5475C>T	c.(5473-5475)TTC>TTT	p.F1825F		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1825	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					CCTGAGCAGGGAAGGATGAAA	0.269									Kartagener_syndrome				7	62					0	0	0.001984	0	0
C5orf40	408263	broad.mit.edu	37	5	156770036	156770036	+	Missense_Mutation	SNP	T	C	C			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr5:156770036T>C	uc003lwu.2	-	2	697	c.509A>G	c.(508-510)CAG>CGG	p.Q170R	CYFIP2_uc003lwq.2_Intron|CYFIP2_uc011ddn.1_Intron|CYFIP2_uc011ddo.1_Intron|CYFIP2_uc003lwr.2_Intron|CYFIP2_uc003lws.2_Intron|CYFIP2_uc003lwt.2_Intron|CYFIP2_uc011ddp.1_Intron	NM_001001343	NP_001001343	Q8TBE3	FNDC9_HUMAN	hypothetical protein LOC408263	170						integral to membrane					0	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTCCTCCCTCTGACCAAGATC	0.612											OREG0016977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	62	82					0	0	0.014410	0	0
MIR146A	406938	broad.mit.edu	37	5	159912436	159912436	+	RNA	SNP	G	C	C			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr5:159912436G>C	hsa-mir-146a|MI0000477	+			c.78G>C			uc003lyl.3_RNA																	0						CAGTTCTTCAGCTGGGATATC	0.468													22	33					0	0	0.002780	0	0
FAM50B	26240	broad.mit.edu	37	6	3850199	3850199	+	Missense_Mutation	SNP	C	T	T			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr6:3850199C>T	uc003mvu.2	+	2	266	c.154C>T	c.(154-156)CAT>TAT	p.H52Y		NM_012135	NP_036267	Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	52						nucleus				pancreas(1)	1	Ovarian(93;0.0925)	all_hematologic(90;0.108)				GTTCTCGGCGCATTACGACGC	0.647													11	19					0	0	0.013537	0	0
NEU1	4758	broad.mit.edu	37	6	31830546	31830546	+	Missense_Mutation	SNP	C	A	A			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr6:31830546C>A	uc003nxq.3	-	1	164	c.8G>T	c.(7-9)GGG>GTG	p.G3V	NEU1_uc010jtg.2_RNA|NEU1_uc003nxr.3_RNA|NEU1_uc010jth.2_5'UTR|NEU1_uc003nxs.3_Missense_Mutation_p.G3V	NM_000434	NP_000425	Q99519	NEUR1_HUMAN	neuraminidase precursor	3						cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane	exo-alpha-sialidase activity|protein binding			ovary(1)	1					Oseltamivir(DB00198)|Zanamivir(DB00558)	GGGTCGCTCCCCAGTCATCTC	0.647													5	20					4.096e-09	4.78917e-09	0.001168	1	0
C2	717	broad.mit.edu	37	6	31913064	31913064	+	Missense_Mutation	SNP	T	G	G			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr6:31913064T>G	uc003nyf.2	+	18	2453	c.2189T>G	c.(2188-2190)ATC>AGC	p.I730S	C2_uc011doo.1_Missense_Mutation_p.I484S|C2_uc011dop.1_Missense_Mutation_p.I516S|C2_uc010jtk.2_Missense_Mutation_p.I598S|C2_uc011doq.1_Missense_Mutation_p.I701S|C2_uc003nyg.2_Missense_Mutation_p.I507S|CFB_uc011dor.1_Intron|C2_uc003nyh.1_3'UTR|CFB_uc011dos.1_5'Flank|CFB_uc003nyi.2_5'Flank|CFB_uc003nyj.3_5'Flank	NM_000063	NP_000054	P06681	CO2_HUMAN	complement component 2 isoform 1 preproprotein	730	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space	serine-type endopeptidase activity			ovary(1)|skin(1)	2		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		GACTTTCACATCAATCTCTTC	0.592													44	81					0	0	0.014410	0	0
STK38	11329	broad.mit.edu	37	6	36489539	36489539	+	Missense_Mutation	SNP	C	A	A			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr6:36489539C>A	uc003omg.2	-	4	950	c.362G>T	c.(361-363)CGT>CTT	p.R121L	STK38_uc003omh.2_Missense_Mutation_p.R121L|STK38_uc003omi.2_Missense_Mutation_p.R121L	NM_007271	NP_009202	Q15208	STK38_HUMAN	serine/threonine kinase 38	121	Protein kinase.				intracellular protein kinase cascade|negative regulation of MAP kinase activity	cytoplasm|MLL5-L complex	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity			ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	6						ATCTGCTTTACGGAGTATTTT	0.338													64	133					1.21705e-43	1.46819e-43	0.014410	1	0
DNAH8	1769	broad.mit.edu	37	6	38980113	38980113	+	Silent	SNP	G	A	A			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr6:38980113G>A	uc003ooe.1	+	88	13443	c.12843G>A	c.(12841-12843)TTG>TTA	p.L4281L		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						ATCTAAAATTGGCCATTGAAG	0.348													47	90					0	0	0.014410	0	0
PHIP	55023	broad.mit.edu	37	6	79650981	79650981	+	Nonsense_Mutation	SNP	G	C	C			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr6:79650981G>C	uc003pir.2	-	40	5121	c.4895C>G	c.(4894-4896)TCA>TGA	p.S1632*	PHIP_uc003piq.2_Nonsense_Mutation_p.S656*|PHIP_uc011dyp.1_Nonsense_Mutation_p.S1631*|IRAK1BP1_uc010kbg.1_Intron|PHIP_uc003pio.3_Nonsense_Mutation_p.S518*	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1632					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			large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	6		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)		CACAAGTTTTGATGGCTGTCC	0.398													6	178					0	0	0.001168	0	0
ATG5	9474	broad.mit.edu	37	6	106764041	106764041	+	Nonsense_Mutation	SNP	G	A	A			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr6:106764041G>A	uc003prf.2	-	2	396	c.43C>T	c.(43-45)CGA>TGA	p.R15*	ATG5_uc010kdb.2_Nonsense_Mutation_p.R15*|ATG5_uc003prg.2_Translation_Start_Site|ATG5_uc010kdc.2_Nonsense_Mutation_p.R15*	NM_004849	NP_004840	Q9H1Y0	ATG5_HUMAN	APG5 autophagy 5-like	15					apoptosis|autophagic vacuole assembly|negative regulation of type I interferon production|post-translational protein modification	autophagic vacuole|pre-autophagosomal structure membrane	protein binding			large_intestine(1)	1	Breast(9;0.0296)	all_cancers(87;0.000301)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0612)|Lung NSC(302;0.216)	BRCA - Breast invasive adenocarcinoma(8;0.00802)	OV - Ovarian serous cystadenocarcinoma(136;0.128)|Epithelial(106;0.159)|all cancers(137;0.18)		GTTGGAATTCGTCCAAACCAC	0.378													73	141					0	0	0.014410	0	0
RSPH4A	345895	broad.mit.edu	37	6	116938227	116938227	+	Silent	SNP	A	G	G			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr6:116938227A>G	uc003pxe.2	+	1	586	c.441A>G	c.(439-441)GGA>GGG	p.G147G	RSPH4A_uc010kee.2_Silent_p.G147G	NM_001010892	NP_001010892	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A isoform 1	147					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke					0						AGTCAGAAGGAAACACCTTTC	0.458									Kartagener_syndrome				45	68					0	0	0.014410	0	0
NPSR1	387129	broad.mit.edu	37	7	34889257	34889257	+	Missense_Mutation	SNP	A	G	G			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr7:34889257A>G	uc003teg.1	+	9	1234	c.1106A>G	c.(1105-1107)GAA>GGA	p.E369G	AAA1_uc010kwq.1_Intron|AAA1_uc011kaq.1_Intron|NPSR1_uc003teh.1_3'UTR|NPSR1_uc010kwt.1_Missense_Mutation_p.E216G|NPSR1_uc010kwu.1_Missense_Mutation_p.E159G|NPSR1_uc010kwv.1_Missense_Mutation_p.E303G|NPSR1_uc003tei.1_Intron|NPSR1_uc010kww.1_Intron|NPSR1_uc011kar.1_Intron	NM_207172	NP_997055	Q6W5P4	NPSR1_HUMAN	G protein-coupled receptor for asthma	369	Cytoplasmic (Potential).					cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			skin(3)|pancreas(1)	4					Halothane(DB01159)	TCCAAGCCAGAATTCATCTAG	0.527													3	88					0	0	0.009096	0	0
ABP1	26	broad.mit.edu	37	7	150554515	150554515	+	Silent	SNP	C	T	T			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr7:150554515C>T	uc003why.1	+	3	5175	c.957C>T	c.(955-957)TAC>TAT	p.Y319Y	ABP1_uc003whz.1_Silent_p.Y319Y|ABP1_uc003wia.1_Silent_p.Y319Y	NM_001091	NP_001082	P19801	ABP1_HUMAN	amiloride binding protein 1 precursor	319					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			ovary(2)|breast(2)|skin(2)	6	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	CTGTGCTCTACGGCGGCTGGA	0.692													5	5					0	0	0.008291	0	0
FAM83A	84985	broad.mit.edu	37	8	124219482	124219482	+	Missense_Mutation	SNP	C	T	T			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr8:124219482C>T	uc003ypv.2	+	5	2873	c.859C>T	c.(859-861)CGC>TGC	p.R287C	FAM83A_uc003ypw.2_Missense_Mutation_p.R287C|FAM83A_uc003ypy.2_Missense_Mutation_p.R231C|FAM83A_uc003ypx.2_Missense_Mutation_p.R287C|FAM83A_uc003ypz.2_Missense_Mutation_p.R287C	NM_032899	NP_116288	Q86UY5	FA83A_HUMAN	hypothetical protein LOC84985 isoform a	287										ovary(3)|skin(1)	4	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			CGAGGAGTTCCGCCACCTCTA	0.602													11	15					0	0	0.013537	0	0
Unknown	0	broad.mit.edu	37	9	98774903	98774903	+	Missense_Mutation	SNP	G	C	C			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr9:98774903G>C	uc010msa.1	+	4	1890	c.1014G>C	c.(1012-1014)AAG>AAC	p.K338N	uc011lun.1_Intron					RecName: Full=Uncharacterized protein C9orf102;																		CAGAAACTAAGAAATCACCTG	0.368													44	51					0	0	0.014410	0	0
ZNF483	158399	broad.mit.edu	37	9	114304161	114304161	+	Missense_Mutation	SNP	G	A	A			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr9:114304161G>A	uc004bff.2	+	6	1170	c.946G>A	c.(946-948)GAC>AAC	p.D316N	ZNF483_uc004bfg.2_Intron	NM_133464	NP_597721	Q8TF39	ZN483_HUMAN	zinc finger protein 483 isoform a	316					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1						AGAAACTTCAGACTTAATTAA	0.398													11	264					0	0	0.008291	0	0
NOTCH1	4851	broad.mit.edu	37	9	139412203	139412203	+	Splice_Site	SNP	C	T	T			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr9:139412203C>T	uc004chz.2	-	8	1441	c.1441_splice	c.e8+1	p.G481_splice		NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein						aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGCCGACGCACCGGGCATGCA	0.667			T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			8	60					0	0	0.004482	0	0
Unknown	0	broad.mit.edu	37	MT	9264	9264	+	RNA	SNP	G	A	A			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chrM:9264G>A	uc011mfi.1	+	1		c.602G>A			uc004cov.3_5'Flank|uc004cow.1_5'Flank					Homo sapiens mRNA for OK/SW-CL.16, complete cds.																		GACCCCTAACAGGGGCCCTCT	0.488													9	377					0	0	0.004482	0	0
BEND2	139105	broad.mit.edu	37	X	18221653	18221653	+	Missense_Mutation	SNP	G	T	T			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chrX:18221653G>T	uc004cyj.3	-	5	1029	c.875C>A	c.(874-876)GCC>GAC	p.A292D	BEND2_uc010nfb.2_Missense_Mutation_p.A292D	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	292										ovary(3)|kidney(1)|central_nervous_system(1)	5						AGATGACAAGGCTCTACCTGG	0.418													13	210					7.03913e-09	8.10566e-09	0.013537	1	0
FAM48B1	100130302	broad.mit.edu	37	X	24380909	24380909	+	Missense_Mutation	SNP	G	A	A			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chrX:24380909G>A	uc011mjx.1	+	1	32	c.32G>A	c.(31-33)CGC>CAC	p.R11H		NM_001136234	NP_001129706			hypothetical protein LOC100130302											kidney(1)	1						GCTCTGGATCGCGCAGAGAAT	0.458													44	54					0	0	0.009718	0	0
TAF9B	51616	broad.mit.edu	37	X	77394339	77394339	+	Splice_Site	SNP	C	T	T			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chrX:77394339C>T	uc004eda.2	-	2	204	c.133_splice	c.e2+1	p.R45_splice		NM_015975	NP_057059	Q9HBM6	TAF9B_HUMAN	transcription associated factor 9B						negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell growth|transcription initiation, DNA-dependent	transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding				0						CATTAACTTACGGAAAGCAAA	0.284													44	72					0	0	0.011902	0	0
SATL1	340562	broad.mit.edu	37	X	84363189	84363189	+	Silent	SNP	G	A	A			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chrX:84363189G>A	uc011mqx.1	-	1	786	c.786C>T	c.(784-786)ATC>ATT	p.I262I	SATL1_uc004een.2_Silent_p.I262I	NM_001163541	NP_001157013	Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	75	Gln-rich.						N-acetyltransferase activity			breast(2)	2						GGCTTGGCTGGATTATACCTG	0.433													7	335					0	0	0.003080	0	0
ARMCX1	51309	broad.mit.edu	37	X	100808652	100808652	+	Missense_Mutation	SNP	G	A	A			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chrX:100808652G>A	uc004ehv.2	+	4	1110	c.739G>A	c.(739-741)GGT>AGT	p.G247S	ARMCX1_uc004ehw.2_Missense_Mutation_p.G247S	NM_016608	NP_057692	Q9P291	ARMX1_HUMAN	armadillo repeat containing, X-linked 1	247	ARM 2.					integral to membrane	binding			ovary(3)|pancreas(1)	4						ACGTGAATTGGGTGGTGTCCC	0.388													106	198					0	0	0.014410	0	0
FAM70A	55026	broad.mit.edu	37	X	119410865	119410865	+	Missense_Mutation	SNP	C	T	T			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chrX:119410865C>T	uc004eso.3	-	8	849	c.622G>A	c.(622-624)GAT>AAT	p.D208N	FAM70A_uc004esp.3_Missense_Mutation_p.D184N|FAM70A_uc010nqo.2_Intron	NM_017938	NP_060408	Q5JRV8	FA70A_HUMAN	hypothetical protein LOC55026 isoform 1	208						integral to membrane				lung(1)|breast(1)	2						CTGCTGACATCGATGTATTCG	0.587													5	197					0	0	0.001168	0	0
SERBP1	26135	broad.mit.edu	37	1	67895672	67895675	+	Frame_Shift_Del	DEL	TTCT	-	-			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr1:67895672_67895675delTTCT	uc001ddv.2	-	1	449_452	c.309_312delAGAA	c.(307-312)AAAGAAfs	p.K103fs	SERBP1_uc001ddx.2_Frame_Shift_Del_p.K103fs|SERBP1_uc001ddy.2_Frame_Shift_Del_p.K103fs|SERBP1_uc001ddw.2_Frame_Shift_Del_p.K103fs	NM_001018067	NP_001018077	Q8NC51	PAIRB_HUMAN	SERPINE1 mRNA binding protein 1 isoform 1	103_104					regulation of mRNA stability	nucleus|perinuclear region of cytoplasm	mRNA 3'-UTR binding|protein binding			skin(1)	1						CTGCTTTACCTTCTTTCTTAAGCG	0.632													36	108	---	---	---	---					
POLDIP2	26073	broad.mit.edu	37	17	26684390	26684391	+	Splice_Site	INS	-	C	C	rs148075904	by1000genomes	TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr17:26684390_26684391insC	uc002haz.2	-	3	211	c.79_splice	c.e3+0	p.P27_splice	POLDIP2_uc010wag.1_RNA|TMEM199_uc002hba.2_5'Flank|SARM1_uc010wah.1_5'Flank	NM_015584	NP_056399	Q9Y2S7	PDIP2_HUMAN	DNA polymerase delta interacting protein 2							mitochondrial nucleoid|nucleus					0	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		GCACAGAGCGGCTTTGCCACCG	0.762													5	5	---	---	---	---					
UBR3	130507	broad.mit.edu	37	2	170929938	170929940	+	In_Frame_Del	DEL	GAA	-	-			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr2:170929938_170929940delGAA	uc010zdi.1	+	36	5020_5022	c.5020_5022delGAA	c.(5020-5022)GAAdel	p.E1677del	UBR3_uc002ufr.3_RNA|UBR3_uc010fqa.2_In_Frame_Del_p.E498del|UBR3_uc002uft.3_In_Frame_Del_p.E534del|UBR3_uc010zdj.1_In_Frame_Del_p.E368del|UBR3_uc002ufu.3_In_Frame_Del_p.E183del	NM_172070	NP_742067	Q6ZT12	UBR3_HUMAN	E3 ubiquitin-protein ligase UBR3	1677					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding				0						TGTCTAAAAGGAAGAAGAAGAAT	0.379													8	206	---	---	---	---					
APPL1	26060	broad.mit.edu	37	3	57302495	57302498	+	Frame_Shift_Del	DEL	AAAC	-	-			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr3:57302495_57302498delAAAC	uc003dio.2	+	21	2110_2113	c.1963_1966delAAAC	c.(1963-1968)AAACAAfs	p.K655fs	APPL1_uc011bey.1_Frame_Shift_Del_p.K638fs|ASB14_uc003dip.1_3'UTR|ASB14_uc003diq.2_3'UTR	NM_012096	NP_036228	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH	655_656	PID.|Potential.				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		agaactcaataaacaaaaacagat	0.216													18	42	---	---	---	---					
GPR151	134391	broad.mit.edu	37	5	145895373	145895374	+	Frame_Shift_Del	DEL	TT	-	-			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr5:145895373_145895374delTT	uc003lod.1	-	1	303_304	c.303_304delAA	c.(301-306)AAAAGTfs	p.K101fs		NM_194251	NP_919227	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	101_102	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCCAAACACTTTTGGAGTACG	0.515													7	131	---	---	---	---					
ARID1B	57492	broad.mit.edu	37	6	157521872	157521872	+	Frame_Shift_Del	DEL	C	-	-			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr6:157521872delC	uc003qqn.2	+	18	4242	c.4090delC	c.(4090-4092)CCCfs	p.P1364fs	ARID1B_uc003qqo.2_Frame_Shift_Del_p.P1324fs|ARID1B_uc003qqp.2_Frame_Shift_Del_p.P1311fs	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1369					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			ovary(1)|breast(1)	2		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CATGTACGGGCCCCCAGCCAA	0.507													22	164	---	---	---	---					
CSMD3	114788	broad.mit.edu	37	8	113259317	113259319	+	In_Frame_Del	DEL	AGA	-	-			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr8:113259317_113259319delAGA	uc003ynu.2	-	64	10311_10313	c.10152_10154delTCT	c.(10150-10155)CTTCTC>CTC	p.3384_3385LL>L	CSMD3_uc003yns.2_In_Frame_Del_p.2586_2587LL>L|CSMD3_uc003ynt.2_In_Frame_Del_p.3344_3345LL>L|CSMD3_uc011lhx.1_In_Frame_Del_p.3215_3216LL>L	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3384_3385	Extracellular (Potential).|Sushi 27.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						AGACCCTTGGAGAAGGTGTCCTT	0.399										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			9	66	---	---	---	---					
NOTCH1	4851	broad.mit.edu	37	9	139413129	139413131	+	In_Frame_Del	DEL	TCA	-	-			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr9:139413129_139413131delTCA	uc004chz.2	-	6	1011_1013	c.1011_1013delTGA	c.(1009-1014)GATGAC>GAC	p.337_338DD>D		NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	337_338	Extracellular (Potential).|EGF-like 9; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCTGGCACAGTCATCAATGTTCT	0.631			T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			13	28	---	---	---	---					
Unknown	0	broad.mit.edu	37	M	302	303	+	RNA	INS	-	C	C			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chrM:302_303insC	uc004coq.3	-	2		c.66_67insG			uc004cor.1_5'Flank|uc004cos.3_5'Flank					Homo sapiens cDNA: FLJ22857 fis, clone KAT01615.																		TTTCCACCAAACCCCCCCCTCC	0.416													14	170	---	---	---	---					
