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	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	filter
NOL9	79707	broad.mit.edu	37	1	6592578	6592578	+	Missense_Mutation	SNP	G	A	A			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:6592578G>A	uc001ans.2	-	8	1499	c.1480C>T	c.(1480-1482)CAT>TAT	p.H494Y	NOL9_uc010nzs.1_RNA	NM_024654	NP_078930	Q5SY16	NOL9_HUMAN	nucleolar protein 9	494					maturation of 5.8S rRNA	nucleolus	ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding			skin(1)	1	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		ATCAGTTTATGTCCAGTGAAC	0.393													37	20	---	---	---	---	PASS
C1orf187	374946	broad.mit.edu	37	1	11766340	11766340	+	Missense_Mutation	SNP	G	A	A	rs141904724		TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:11766340G>A	uc001asr.1	+	2	165	c.25G>A	c.(25-27)GCT>ACT	p.A9T		NM_198545	NP_940947	Q8NBI3	DRAXI_HUMAN	chromosome 1 open reading frame 187 precursor	9					axon guidance|commissural neuron differentiation in spinal cord|dorsal spinal cord development|forebrain development|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular region					0	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.48e-06)|COAD - Colon adenocarcinoma(227;0.000283)|BRCA - Breast invasive adenocarcinoma(304;0.000316)|Kidney(185;0.000841)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|STAD - Stomach adenocarcinoma(313;0.00754)|READ - Rectum adenocarcinoma(331;0.0651)		CATCCACACCGCTCCCATGCT	0.637													10	2	---	---	---	---	PASS
NBPF1	55672	broad.mit.edu	37	1	16893800	16893800	+	Missense_Mutation	SNP	C	A	A			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:16893800C>A	uc009vos.1	-	26	3826	c.2938G>T	c.(2938-2940)GAC>TAC	p.D980Y	NBPF1_uc009vot.1_Missense_Mutation_p.D363Y|NBPF1_uc001ayz.1_Missense_Mutation_p.D363Y|NBPF1_uc010oce.1_Missense_Mutation_p.D634Y	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	hypothetical protein LOC55672	980	NBPF 6.					cytoplasm					0				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)		TCCAGTGAGTCCTGCAAGACT	0.478													8	758	---	---	---	---	PASS
PLA2G5	5322	broad.mit.edu	37	1	20412680	20412680	+	Missense_Mutation	SNP	G	A	A			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:20412680G>A	uc001bcy.2	+	3	413	c.145G>A	c.(145-147)GGC>AGC	p.G49S	PLA2G5_uc001bcw.2_RNA|PLA2G5_uc001bcx.2_Missense_Mutation_p.G80S	NM_000929	NP_000920	P39877	PA2G5_HUMAN	phospholipase A2, group V precursor	49		Calcium; via carbonyl oxygen (By similarity).			lipid catabolic process	extracellular region	calcium ion binding|calcium-dependent phospholipase A2 activity			skin(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652)		CTGTTACTGCGGCTGGGGCGG	0.502													15	8	---	---	---	---	PASS
OPRD1	4985	broad.mit.edu	37	1	29189553	29189553	+	Missense_Mutation	SNP	G	C	C			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:29189553G>C	uc001brf.1	+	3	1119	c.877G>C	c.(877-879)GAC>CAC	p.D293H		NM_000911	NP_000902	P41143	OPRD_HUMAN	opioid receptor, delta 1	293	Extracellular (Potential).				immune response|protein import into nucleus, translocation	integral to plasma membrane	delta-opioid receptor activity|protein binding			ovary(1)|central_nervous_system(1)	2		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647)	CGACCGGCGCGACCCGCTGGT	0.637													5	2	---	---	---	---	PASS
YBX1	4904	broad.mit.edu	37	1	43161906	43161906	+	Missense_Mutation	SNP	C	T	T			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:43161906C>T	uc001chs.2	+	4	472	c.301C>T	c.(301-303)CGC>TGC	p.R101C		NM_004559	NP_004550	P67809	YBOX1_HUMAN	nuclease sensitive element binding protein 1	101	CSD.				CRD-mediated mRNA stabilization|negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|positive regulation of cell division|transcription from RNA polymerase II promoter	CRD-mediated mRNA stability complex|extracellular region|histone pre-mRNA 3'end processing complex|nucleoplasm|stress granule|U12-type spliceosomal complex	double-stranded DNA binding|protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			ovary(4)|upper_aerodigestive_tract(1)	5	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GAAGTACCTTCGCAGTGTAGG	0.363													36	17	---	---	---	---	PASS
KIF2C	11004	broad.mit.edu	37	1	45232773	45232773	+	Silent	SNP	C	T	T			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:45232773C>T	uc001cmg.3	+	21	2215	c.2100C>T	c.(2098-2100)GTC>GTT	p.V700V	KIF2C_uc010olb.1_Silent_p.V659V|KIF2C_uc010olc.1_Silent_p.V587V|KIF2C_uc001cmh.3_Silent_p.V646V	NM_006845	NP_006836	Q99661	KIF2C_HUMAN	kinesin family member 2C	700					blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					TTCCAGATGTCATCAAGGCCT	0.537													34	6	---	---	---	---	PASS
PRDX1	5052	broad.mit.edu	37	1	45981401	45981401	+	Missense_Mutation	SNP	C	G	G			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:45981401C>G	uc001cnz.2	-	2	217	c.185G>C	c.(184-186)AGG>ACG	p.R62T	PRDX1_uc001coa.2_Missense_Mutation_p.R62T|PRDX1_uc001cob.2_Missense_Mutation_p.R62T|PRDX1_uc001coc.2_Missense_Mutation_p.R62T	NM_181697	NP_859048	Q06830	PRDX1_HUMAN	peroxiredoxin 1	62	Thioredoxin.				cell proliferation|cell redox homeostasis|hydrogen peroxide catabolic process|skeletal system development	melanosome|mitochondrion|nucleus	protein binding|thioredoxin peroxidase activity				0	Acute lymphoblastic leukemia(166;0.155)					TTCTTCTGCCCTATCACTGAA	0.428													17	32	---	---	---	---	PASS
TGFBR3	7049	broad.mit.edu	37	1	92200510	92200510	+	Missense_Mutation	SNP	C	G	G			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:92200510C>G	uc001doh.2	-	5	857	c.391G>C	c.(391-393)GAG>CAG	p.E131Q	TGFBR3_uc009wde.2_Intron|TGFBR3_uc010osy.1_Missense_Mutation_p.E89Q|TGFBR3_uc001doi.2_Missense_Mutation_p.E131Q|TGFBR3_uc001doj.2_Missense_Mutation_p.E131Q	NM_003243	NP_003234	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	131	Extracellular (Potential).				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			ovary(3)	3		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		ACAGAACCCTCAGACACCTAG	0.418													48	19	---	---	---	---	PASS
EXTL2	2135	broad.mit.edu	37	1	101339555	101339555	+	Silent	SNP	G	A	A			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:101339555G>A	uc001dtk.1	-	5	1273	c.936C>T	c.(934-936)TCC>TCT	p.S312S	EXTL2_uc001dtl.1_Silent_p.S312S|EXTL2_uc010ouk.1_Silent_p.S299S|EXTL2_uc001dtm.1_Silent_p.S311S	NM_001439	NP_001430	Q9UBQ6	EXTL2_HUMAN	exostoses-like 2	312	Lumenal (Potential).				N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process	extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding			skin(1)	1		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)		TCATAATGTTGGAGTATCTTA	0.353													32	14	---	---	---	---	PASS
TRIM45	80263	broad.mit.edu	37	1	117663389	117663389	+	Missense_Mutation	SNP	C	G	G			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:117663389C>G	uc001egz.2	-	1	1023	c.435G>C	c.(433-435)AAG>AAC	p.K145N	TRIM45_uc009whe.2_Missense_Mutation_p.K145N|TRIM45_uc001eha.2_Missense_Mutation_p.K41N	NM_025188	NP_079464	Q9H8W5	TRI45_HUMAN	tripartite motif-containing 45 isoform 1	145	B box-type 1.					cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)	1	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		TCTGACACCTCTTCTCTACTT	0.542													21	9	---	---	---	---	PASS
WARS2	10352	broad.mit.edu	37	1	119584928	119584928	+	Silent	SNP	G	A	A			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:119584928G>A	uc001ehn.2	-	4	502	c.474C>T	c.(472-474)CTC>CTT	p.L158L	WARS2_uc010oxf.1_Silent_p.L64L|WARS2_uc001ehm.2_Silent_p.L158L|WARS2_uc010oxg.1_Silent_p.L101L|WARS2_uc010oxh.1_Intron|WARS2_uc010oxi.1_Intron	NM_015836	NP_056651	Q9UGM6	SYWM_HUMAN	mitochondrial tryptophanyl tRNA synthetase 2	158					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity				0	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	CTGGGTATGTGAGCAGGCCCA	0.468													34	21	---	---	---	---	PASS
HIST2H2BE	8349	broad.mit.edu	37	1	149858030	149858030	+	Missense_Mutation	SNP	C	T	T			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:149858030C>T	uc001etc.2	-	1	203	c.161G>A	c.(160-162)GGC>GAC	p.G54D	HIST2H2AC_uc001etd.2_5'Flank	NM_003528	NP_003519	Q16778	H2B2E_HUMAN	histone cluster 2, H2be	54					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			ovary(1)	1	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GGACGAGATGCCGGTGTCGGG	0.587													4	152	---	---	---	---	PASS
NPR1	4881	broad.mit.edu	37	1	153658607	153658607	+	Silent	SNP	C	T	T			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:153658607C>T	uc001fcs.3	+	10	2110	c.1689C>T	c.(1687-1689)CTC>CTT	p.L563L	NPR1_uc010pdz.1_Silent_p.L309L|NPR1_uc010pea.1_Intron	NM_000906	NP_000897	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1 precursor	563	Cytoplasmic (Potential).|Protein kinase.				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			ovary(3)|lung(2)|stomach(1)|breast(1)	7	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	AGGGCAACCTCGTGGCTGTGA	0.552													6	10	---	---	---	---	PASS
C1orf104	284618	broad.mit.edu	37	1	155290668	155290668	+	Silent	SNP	G	A	A			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155290668G>A	uc001fki.2	-	2	889	c.612C>T	c.(610-612)TGC>TGT	p.C204C	RAG1AP1_uc010pey.1_Intron|C1orf104_uc001fkh.1_Intron|RUSC1_uc001fkj.2_5'UTR|RUSC1_uc001fkk.2_5'UTR|RUSC1_uc009wqn.1_5'Flank|RUSC1_uc009wqo.1_5'Flank	NM_001039517	NP_001034606	Q66K80	RUAS1_HUMAN	hypothetical protein LOC284618	204											0	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.32e-10)|all cancers(21;3.51e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			GTGCAGCTGCGCAGCGCAGGG	0.667													4	5	---	---	---	---	PASS
OR6N1	128372	broad.mit.edu	37	1	158735720	158735720	+	Silent	SNP	G	A	A			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158735720G>A	uc010piq.1	-	1	753	c.753C>T	c.(751-753)TTC>TTT	p.F251F		NM_001005185	NP_001005185	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N,	251	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					TGCTCCCATAGAAGATGAGAA	0.537													43	44	---	---	---	---	PASS
AIM2	9447	broad.mit.edu	37	1	159043196	159043196	+	Nonsense_Mutation	SNP	C	A	A	rs2276405	byFrequency	TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:159043196C>A	uc001ftj.1	-	2	339	c.94G>T	c.(94-96)GAG>TAG	p.E32*		NM_004833	NP_004824	O14862	AIM2_HUMAN	absent in melanoma 2	32	DAPIN.				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus				ovary(2)|pancreas(1)	3	all_hematologic(112;0.0429)					ATATTAAACTCGTCTGAAAGA	0.413													3	60	---	---	---	---	PASS
CACNA1E	777	broad.mit.edu	37	1	181701980	181701980	+	Missense_Mutation	SNP	C	A	A			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:181701980C>A	uc001gow.2	+	20	2923	c.2758C>A	c.(2758-2760)CGC>AGC	p.R920S	CACNA1E_uc009wxs.2_Missense_Mutation_p.R808S|CACNA1E_uc001gox.1_Missense_Mutation_p.R146S|CACNA1E_uc009wxt.2_Missense_Mutation_p.R146S	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	920	Cytoplasmic (Potential).				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						GAGCCAACGGCGCAGCCGGCA	0.652													35	38	---	---	---	---	PASS
CACNA1E	777	broad.mit.edu	37	1	181765941	181765941	+	Missense_Mutation	SNP	C	T	T			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:181765941C>T	uc001gow.2	+	46	6382	c.6217C>T	c.(6217-6219)CGC>TGC	p.R2073C	CACNA1E_uc009wxs.2_Missense_Mutation_p.R1961C|CACNA1E_uc009wxt.2_Missense_Mutation_p.R1342C	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	2116	Cytoplasmic (Potential).				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						GTCCCCAGAGCGCCGTCAATC	0.602													3	17	---	---	---	---	PASS
ZNF648	127665	broad.mit.edu	37	1	182026213	182026213	+	Missense_Mutation	SNP	G	C	C			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:182026213G>C	uc001goz.2	-	2	1141	c.933C>G	c.(931-933)TTC>TTG	p.F311L		NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN	zinc finger protein 648	311	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CCTTGTCGCAGAAGGAGCACT	0.667													13	11	---	---	---	---	PASS
NR5A2	2494	broad.mit.edu	37	1	200008934	200008934	+	Intron	SNP	G	A	A			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:200008934G>A	uc001gvb.2	+						NR5A2_uc001gvc.2_Intron|NR5A2_uc009wzh.2_Intron|NR5A2_uc010pph.1_5'Flank	NM_205860	NP_995582	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2						embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2	Prostate(682;0.19)					GTAAGGAGGCGCCGCGCGGCG	0.612													17	12	---	---	---	---	PASS
ARL8A	127829	broad.mit.edu	37	1	202107154	202107154	+	Missense_Mutation	SNP	C	A	A			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:202107154C>A	uc001gxk.1	-	3	383	c.217G>T	c.(217-219)GGG>TGG	p.G73W		NM_138795	NP_620150	Q96BM9	ARL8A_HUMAN	ADP-ribosylation factor-like 8A	73	GTP (By similarity).				cell division|chromosome segregation|mitosis|small GTPase mediated signal transduction	late endosome membrane|lysosomal membrane|midbody|spindle midzone	alpha-tubulin binding|beta-tubulin binding|GTP binding|GTPase activity			ovary(2)	2						GGCTGTCCCCCAATGTCCCAG	0.607													4	42	---	---	---	---	PASS
ABCB10	23456	broad.mit.edu	37	1	229667455	229667455	+	Missense_Mutation	SNP	G	T	T			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:229667455G>T	uc001htp.3	-	7	1406	c.1363C>A	c.(1363-1365)CTG>ATG	p.L455M		NM_012089	NP_036221	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B, member 10	455	Mitochondrial intermembrane (Potential).|ABC transmembrane type-1.|Mitochondrial matrix (Potential).					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity			breast(2)	2	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				CCTTTCATCAGCTCCGAGTAG	0.552													7	72	---	---	---	---	PASS
GALNT2	2590	broad.mit.edu	37	1	230401027	230401027	+	Nonsense_Mutation	SNP	C	T	T			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:230401027C>T	uc010pwa.1	+	14	1426	c.1354C>T	c.(1354-1356)CAG>TAG	p.Q452*	GALNT2_uc010pvy.1_Nonsense_Mutation_p.Q414*|GALNT2_uc010pvz.1_RNA|GALNT2_uc001htu.2_Nonsense_Mutation_p.Q64*	NM_004481	NP_004472	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	452	Lumenal (Potential).|Ricin B-type lectin.				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)	2	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				GGCCTTGCAGCAGGGAACTAA	0.517													71	96	---	---	---	---	PASS
COG2	22796	broad.mit.edu	37	1	230810750	230810750	+	Missense_Mutation	SNP	A	T	T			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:230810750A>T	uc001htw.2	+	9	1057	c.906A>T	c.(904-906)AAA>AAT	p.K302N	COG2_uc001htx.2_Missense_Mutation_p.K302N|COG2_uc010pwc.1_Missense_Mutation_p.K175N	NM_007357	NP_031383	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2 isoform	302					Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity				0	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				ACAGTGAAAAAGGCAATACTG	0.368													46	57	---	---	---	---	PASS
CAPN9	10753	broad.mit.edu	37	1	230937308	230937308	+	Intron	SNP	C	T	T	rs112880876		TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:230937308C>T	uc001htz.1	+						CAPN9_uc009xfg.1_Intron|CAPN9_uc001hua.1_Intron	NM_006615	NP_006606	O14815	CAN9_HUMAN	calpain 9 isoform 1						digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			ovary(1)	1	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				CTCTCTCTCTCTTCCCAGTTC	0.512													16	31	---	---	---	---	PASS
FMN2	56776	broad.mit.edu	37	1	240255883	240255883	+	Silent	SNP	G	A	A			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:240255883G>A	uc010pyd.1	+	1	699	c.474G>A	c.(472-474)CCG>CCA	p.P158P	FMN2_uc010pye.1_Silent_p.P158P	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	158					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GGGGCCGGCCGATCGCCGAGG	0.667													6	10	---	---	---	---	PASS
OR2M2	391194	broad.mit.edu	37	1	248343731	248343731	+	Silent	SNP	C	T	T			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248343731C>T	uc010pzf.1	+	1	444	c.444C>T	c.(442-444)TCC>TCT	p.S148S		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M,	148	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|skin(1)	4	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CTACCTTCTCCTGGATCCTGG	0.438													9	232	---	---	---	---	PASS
MYT1L	23040	broad.mit.edu	37	2	1926282	1926282	+	Missense_Mutation	SNP	G	C	C			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:1926282G>C	uc002qxe.2	-	10	2086	c.1259C>G	c.(1258-1260)TCT>TGT	p.S420C	MYT1L_uc002qxd.2_Missense_Mutation_p.S420C|MYT1L_uc010ewl.1_RNA	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	420					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|central_nervous_system(1)	6	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CACCTCTTCAGACCTGTCCGA	0.572													19	34	---	---	---	---	PASS
PUM2	23369	broad.mit.edu	37	2	20511297	20511297	+	Missense_Mutation	SNP	C	G	G			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:20511297C>G	uc002rds.1	-	4	499	c.476G>C	c.(475-477)AGA>ACA	p.R159T	PUM2_uc002rdt.1_Missense_Mutation_p.R159T|PUM2_uc002rdr.2_Missense_Mutation_p.R98T|PUM2_uc010yjy.1_Missense_Mutation_p.R159T|PUM2_uc002rdu.1_Missense_Mutation_p.R159T|PUM2_uc010yjz.1_Missense_Mutation_p.R98T	NM_015317	NP_056132	Q8TB72	PUM2_HUMAN	pumilio homolog 2	159	Interaction with SNAPIN.				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGCAAACCTCTGCCATTTAT	0.353													27	48	---	---	---	---	PASS
CAD	790	broad.mit.edu	37	2	27456574	27456574	+	Silent	SNP	T	C	C			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:27456574T>C	uc002rji.2	+	21	3459	c.3297T>C	c.(3295-3297)AAT>AAC	p.N1099N	CAD_uc010eyw.2_Silent_p.N1036N	NM_004341	NP_004332	P27708	PYR1_HUMAN	carbamoylphosphate synthetase 2/aspartate	1099	CPSase B.|ATP-grasp 2.|CPSase (Carbamoyl-phosphate synthase).				'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			ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CTGCTATGAATGTGGCCTACA	0.602													24	31	---	---	---	---	PASS
C2orf71	388939	broad.mit.edu	37	2	29295660	29295660	+	Missense_Mutation	SNP	C	T	T			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:29295660C>T	uc002rmt.1	-	1	1468	c.1468G>A	c.(1468-1470)GAG>AAG	p.E490K		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	hypothetical protein LOC388939	490					response to stimulus|visual perception	photoreceptor outer segment				skin(1)	1						TCCTCCTCCTCTGGGCTGCTG	0.527													52	70	---	---	---	---	PASS
NLRC4	58484	broad.mit.edu	37	2	32475940	32475940	+	Missense_Mutation	SNP	C	G	G			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:32475940C>G	uc002roi.2	-	4	1239	c.993G>C	c.(991-993)TTG>TTC	p.L331F	NLRC4_uc002roj.1_Missense_Mutation_p.L331F|NLRC4_uc010ezt.1_Intron	NM_021209	NP_067032	Q9NPP4	NLRC4_HUMAN	caspase recruitment domain protein 12	331	NACHT.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			ovary(3)|large_intestine(1)|lung(1)|skin(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TGAGATTCCTCAAGCACCTGG	0.488													22	24	---	---	---	---	PASS
GCC2	9648	broad.mit.edu	37	2	109086935	109086935	+	Missense_Mutation	SNP	G	C	C			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:109086935G>C	uc002tec.2	+	6	1304	c.1150G>C	c.(1150-1152)GAG>CAG	p.E384Q	GCC2_uc002ted.2_Missense_Mutation_p.E283Q	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain-containing 2	384	Potential.				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			ovary(1)	1						GGAAGACTTAGAGTTTAAAAT	0.284													23	57	---	---	---	---	PASS
DPP4	1803	broad.mit.edu	37	2	162865769	162865769	+	Silent	SNP	T	C	C			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:162865769T>C	uc002ubz.2	-	21	2430	c.1869A>G	c.(1867-1869)CGA>CGG	p.R623R	DPP4_uc010fpb.2_Silent_p.R299R	NM_001935	NP_001926	P27487	DPP4_HUMAN	dipeptidylpeptidase IV	623	Extracellular (Potential).				cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			ovary(3)	3					Sitagliptin(DB01261)	AAATTGCAATTCGTTTGTTGT	0.363													35	4	---	---	---	---	PASS
NFE2L2	4780	broad.mit.edu	37	2	178098944	178098944	+	Missense_Mutation	SNP	C	T	T			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:178098944C>T	uc002ulh.3	-	2	656	c.101G>A	c.(100-102)CGA>CAA	p.R34Q	NFE2L2_uc002ulg.3_Missense_Mutation_p.R18Q|NFE2L2_uc010zfa.1_Missense_Mutation_p.R18Q|NFE2L2_uc002uli.3_Missense_Mutation_p.R18Q|NFE2L2_uc010fra.2_Missense_Mutation_p.R18Q|NFE2L2_uc010frb.2_Missense_Mutation_p.R18Q	NM_006164	NP_006155	Q16236	NF2L2_HUMAN	nuclear factor erythroid 2-like 2 isoform 1	34					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			AAATACTTCTCGACTTACTCC	0.373			Mis		NSCLC|HNSCC					HNSCC(56;0.16)			27	4	---	---	---	---	PASS
TTC30B	150737	broad.mit.edu	37	2	178417117	178417117	+	Missense_Mutation	SNP	G	T	T			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:178417117G>T	uc002uln.2	-	1	408	c.375C>A	c.(373-375)AGC>AGA	p.S125R	TTC30B_uc010zfc.1_5'UTR	NM_152517	NP_689730	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	125					cell projection organization	cilium	binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			GATCGCCCTCGCTGTACTTGA	0.632													104	28	---	---	---	---	PASS
TTN	7273	broad.mit.edu	37	2	179395596	179395596	+	Missense_Mutation	SNP	G	C	C			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179395596G>C	uc010zfg.1	-	307	98266	c.98042C>G	c.(98041-98043)TCT>TGT	p.S32681C	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S26376C|TTN_uc010zfi.1_Missense_Mutation_p.S26309C|TTN_uc010zfj.1_Missense_Mutation_p.S26184C|TTN_uc002umq.2_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	33608							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCGTTTTGGAGACTTAACTGC	0.493													7	65	---	---	---	---	PASS
TTN	7273	broad.mit.edu	37	2	179605171	179605171	+	Silent	SNP	C	T	T			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179605171C>T	uc010zfh.1	-	46	12500	c.12276G>A	c.(12274-12276)TTG>TTA	p.L4092L	TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Silent_p.L4025L|TTN_uc010zfj.1_Silent_p.L3900L|TTN_uc002umz.1_Intron	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	titin isoform novex-2	4017							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCTCTGACTCAAGATGAGCG	0.468													19	7	---	---	---	---	PASS
Unknown	0	broad.mit.edu	37	2	186678693	186678693	+	RNA	SNP	C	G	G			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:186678693C>G	uc002upm.2	+	2		c.3331C>G			uc010zfu.1_Missense_Mutation_p.A1248G					Homo sapiens cDNA FLJ44048 fis, clone TESTI4030669.																		AGAGCTGTTGCTGAGCTTGAC	0.433													10	54	---	---	---	---	PASS
GRM7	2917	broad.mit.edu	37	3	6903173	6903173	+	Missense_Mutation	SNP	G	A	A			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:6903173G>A	uc003bqm.2	+	1	372	c.98G>A	c.(97-99)CGC>CAC	p.R33H	GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.R33H|GRM7_uc003bql.2_Missense_Mutation_p.R33H	NM_000844	NP_000835	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7 isoform a	33					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			ovary(4)|lung(3)	7					L-Glutamic Acid(DB00142)	GCGGCGGCGCGCGGCCAGGAG	0.692													4	0	---	---	---	---	PASS
SRGAP3	9901	broad.mit.edu	37	3	9101963	9101963	+	Missense_Mutation	SNP	G	C	C	rs143061036	byFrequency	TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:9101963G>C	uc003brf.1	-	6	1429	c.753C>G	c.(751-753)AAC>AAG	p.N251K	SRGAP3_uc003brg.1_Missense_Mutation_p.N251K|SRGAP3_uc003bri.1_RNA|SRGAP3_uc003brk.2_Missense_Mutation_p.N251K|SRGAP3_uc003brj.1_Missense_Mutation_p.N111K	NM_014850	NP_055665	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	251					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(4)	central_nervous_system(4)|skin(3)|urinary_tract(1)|breast(1)	9				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TTATAGCTGCGTTGGTGGCTG	0.522			T	RAF1	pilocytic astrocytoma								35	14	---	---	---	---	PASS
COL7A1	1294	broad.mit.edu	37	3	48627135	48627135	+	Silent	SNP	C	T	T			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:48627135C>T	uc003ctz.2	-	16	2068	c.2067G>A	c.(2065-2067)GTG>GTA	p.V689V		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	689	Nonhelical region (NC1).|Fibronectin type-III 6.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGACCGTCCTCACTGGGCCCA	0.592													26	5	---	---	---	---	PASS
PCCB	5096	broad.mit.edu	37	3	136019916	136019916	+	Missense_Mutation	SNP	C	T	T			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:136019916C>T	uc003eqy.1	+	9	980	c.929C>T	c.(928-930)TCA>TTA	p.S310L	PCCB_uc003eqz.1_Missense_Mutation_p.S310L|PCCB_uc011bmc.1_Missense_Mutation_p.S330L|PCCB_uc011bmd.1_Missense_Mutation_p.S227L	NM_000532	NP_000523	P05166	PCCB_HUMAN	propionyl Coenzyme A carboxylase, beta	310	Carboxyltransferase.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|propionyl-CoA carboxylase activity				0					Biotin(DB00121)|L-Valine(DB00161)	CCTTTGGAATCAACCAAAGCC	0.458													16	54	---	---	---	---	PASS
RSRC1	51319	broad.mit.edu	37	3	157839907	157839907	+	Nonsense_Mutation	SNP	C	A	A			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:157839907C>A	uc003fbt.2	+	2	125	c.14C>A	c.(13-15)TCA>TAA	p.S5*	RSRC1_uc011bou.1_Nonsense_Mutation_p.S5*|RSRC1_uc003fbu.1_Nonsense_Mutation_p.S5*|RSRC1_uc003fbv.2_Nonsense_Mutation_p.S5*	NM_016625	NP_057709	Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1	5	Arg/Ser-rich.				nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding				0			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			GGACGTCGGTCATCAGATACT	0.353													20	18	---	---	---	---	PASS
MIR569	693154	broad.mit.edu	37	3	170824507	170824507	+	RNA	SNP	G	C	C			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:170824507G>C	hsa-mir-569|MI0003576	-			c.42G>C			TNIK_uc003fhh.2_Intron|TNIK_uc003fhi.2_Intron|TNIK_uc003fhj.2_Intron|TNIK_uc003fhk.2_Intron|TNIK_uc003fhl.2_Intron|TNIK_uc003fhm.2_Intron|TNIK_uc003fhn.2_Intron|TNIK_uc003fho.2_Intron																	0						TGTTGCTTCTGATGCTGTTGT	0.348													50	48	---	---	---	---	PASS
TBL1XR1	79718	broad.mit.edu	37	3	176769461	176769461	+	Silent	SNP	G	A	A			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:176769461G>A	uc003fiw.3	-	5	518	c.258C>T	c.(256-258)GCC>GCT	p.A86A	TBL1XR1_uc003fix.3_Silent_p.A86A|TBL1XR1_uc011bpz.1_5'UTR|TBL1XR1_uc003fiy.2_Silent_p.A86A	NM_024665	NP_078941	Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	86	F-box-like.				canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding			ovary(1)	1	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			CAGGCATTACGGCATCTATCA	0.458													28	24	---	---	---	---	PASS
PEX5L	51555	broad.mit.edu	37	3	179537757	179537757	+	Missense_Mutation	SNP	G	A	A			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:179537757G>A	uc003fki.1	-	9	960	c.830C>T	c.(829-831)ACA>ATA	p.T277I	PEX5L_uc011bqd.1_Missense_Mutation_p.T234I|PEX5L_uc011bqe.1_Missense_Mutation_p.T85I|PEX5L_uc011bqf.1_Missense_Mutation_p.T169I|PEX5L_uc003fkj.1_Missense_Mutation_p.T242I|PEX5L_uc010hxd.1_Missense_Mutation_p.T275I|PEX5L_uc011bqg.1_Missense_Mutation_p.T253I|PEX5L_uc011bqh.1_Missense_Mutation_p.T218I	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	277					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			ovary(3)|large_intestine(1)	4	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			CCAAAACTCTGTATCTGACTG	0.438													80	300	---	---	---	---	PASS
MAP3K13	9175	broad.mit.edu	37	3	185167857	185167857	+	Intron	SNP	T	G	G			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:185167857T>G	uc010hyf.2	+						MAP3K13_uc011brt.1_Intron|MAP3K13_uc003fph.3_Intron|MAP3K13_uc011bru.1_Intron|MAP3K13_uc003fpi.2_Intron|MAP3K13_uc010hyg.2_Intron	NM_004721	NP_004712	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase						activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			ovary(2)|skin(1)	3	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			GTAAGAATATTGTCTCTAAAA	0.313													192	30	---	---	---	---	PASS
GABRG1	2565	broad.mit.edu	37	4	46043256	46043256	+	Missense_Mutation	SNP	G	T	T			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:46043256G>T	uc003gxb.2	-	9	1299	c.1147C>A	c.(1147-1149)CAT>AAT	p.H383N		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid A receptor, gamma 1	383	Cytoplasmic (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			ovary(2)	2				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		GATCCAGGATGGAGACCAGGA	0.388													18	19	---	---	---	---	PASS
SGCB	6443	broad.mit.edu	37	4	52890291	52890291	+	Silent	SNP	G	C	C			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:52890291G>C	uc003gzj.2	-	6	849	c.789C>G	c.(787-789)GTC>GTG	p.V263V	SGCB_uc011bzp.1_Silent_p.V193V	NM_000232	NP_000223	Q16585	SGCB_HUMAN	sarcoglycan, beta	263	Extracellular (Potential).|Cys-rich.				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma					0			GBM - Glioblastoma multiforme(4;7.63e-12)|LUSC - Lung squamous cell carcinoma(32;0.00204)			GGGTGGTGCTGACCATCACAG	0.468													18	23	---	---	---	---	PASS
KDR	3791	broad.mit.edu	37	4	55974034	55974034	+	Missense_Mutation	SNP	G	C	C			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:55974034G>C	uc003has.2	-	10	1584	c.1282C>G	c.(1282-1284)CTA>GTA	p.L428V	KDR_uc003hat.1_Missense_Mutation_p.L428V|KDR_uc011bzx.1_Missense_Mutation_p.L428V	NM_002253	NP_002244	P35968	VGFR2_HUMAN	kinase insert domain receptor precursor	428	Ig-like C2-type 5.|Extracellular (Potential).				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	GGAGAGATTAGAGATTTCTCA	0.458			Mis		NSCLC|angiosarcoma				Familial_Infantile_Hemangioma	TSP Lung(20;0.16)			21	40	---	---	---	---	PASS
SRP72	6731	broad.mit.edu	37	4	57335839	57335839	+	Missense_Mutation	SNP	G	C	C			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:57335839G>C	uc003hbv.2	+	2	170	c.130G>C	c.(130-132)GAC>CAC	p.D44H	SRP72_uc010ihe.2_Missense_Mutation_p.D44H	NM_006947	NP_008878	O76094	SRP72_HUMAN	signal recognition particle 72kDa	44	TPR 1.				response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding			ovary(1)	1	Glioma(25;0.08)|all_neural(26;0.101)					CAACAAAGATGACGTAACTGC	0.358													8	86	---	---	---	---	PASS
GC	2638	broad.mit.edu	37	4	72620739	72620739	+	Missense_Mutation	SNP	C	T	T			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:72620739C>T	uc003hge.2	-	9	1273	c.1120G>A	c.(1120-1122)GAA>AAA	p.E374K	GC_uc003hgd.2_Missense_Mutation_p.E252K|GC_uc010iie.2_Missense_Mutation_p.E374K|GC_uc010iif.2_Missense_Mutation_p.E393K	NM_000583	NP_000574	P02774	VTDB_HUMAN	vitamin D-binding protein precursor	374	Albumin 2.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			ovary(2)|upper_aerodigestive_tract(1)	3		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	TCACAGCATTCACCAAGGCTT	0.353													27	33	---	---	---	---	PASS
GK2	2712	broad.mit.edu	37	4	80328221	80328221	+	Silent	SNP	C	G	G			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:80328221C>G	uc003hlu.2	-	1	1152	c.1134G>C	c.(1132-1134)GGG>GGC	p.G378G		NM_033214	NP_149991	Q14410	GLPK2_HUMAN	glycerol kinase 2	378					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			ovary(2)|skin(2)	4						CACAGAGTATCCCTCTTGCAC	0.423													26	66	---	---	---	---	PASS
CFI	3426	broad.mit.edu	37	4	110663761	110663761	+	Intron	SNP	G	A	A			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:110663761G>A	uc003hzr.3	-						CFI_uc003hzq.2_Intron|CFI_uc011cft.1_Intron|CFI_uc003hzs.3_Intron	NM_000204	NP_000195	P05156	CFAI_HUMAN	complement factor I preproprotein						complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity				0		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		TCTAAACAAAGTGAGAAAGCA	0.313													14	39	---	---	---	---	PASS
FAT4	79633	broad.mit.edu	37	4	126355451	126355451	+	Missense_Mutation	SNP	T	A	A			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:126355451T>A	uc003ifj.3	+	7	7070	c.7070T>A	c.(7069-7071)GTC>GAC	p.V2357D	FAT4_uc011cgp.1_Missense_Mutation_p.V655D	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	2357	Extracellular (Potential).|Cadherin 22.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						GTAGATGATGTCAATGACAAT	0.373													27	59	---	---	---	---	PASS
LRBA	987	broad.mit.edu	37	4	151765298	151765298	+	Missense_Mutation	SNP	T	C	C			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:151765298T>C	uc010ipj.2	-	28	4997	c.4523A>G	c.(4522-4524)CAG>CGG	p.Q1508R	LRBA_uc003ilt.3_Missense_Mutation_p.Q167R|LRBA_uc003ilu.3_Missense_Mutation_p.Q1508R	NM_006726	NP_006717	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and	1508						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			ovary(3)|breast(3)|skin(1)	7	all_hematologic(180;0.151)					ATCCATGTCCTGTAGAAGCCT	0.333													47	55	---	---	---	---	PASS
VEGFC	7424	broad.mit.edu	37	4	177650746	177650746	+	Nonsense_Mutation	SNP	G	C	C			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:177650746G>C	uc003ius.1	-	2	732	c.302C>G	c.(301-303)TCA>TGA	p.S101*		NM_005429	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	101					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			lung(5)	5		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		TTCTGTCCTTGAGTTGAGGTT	0.373													15	43	---	---	---	---	PASS
DAP	1611	broad.mit.edu	37	5	10748327	10748327	+	Missense_Mutation	SNP	C	G	G			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:10748327C>G	uc003jez.3	-	2	319	c.112G>C	c.(112-114)GAA>CAA	p.E38Q	DAP_uc011cmw.1_Missense_Mutation_p.E38Q	NM_004394	NP_004385	P51397	DAP1_HUMAN	death-associated protein	38					activation of caspase activity|cellular response to amino acid starvation|induction of apoptosis by extracellular signals|negative regulation of autophagy|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent		death domain binding				0		Ovarian(839;1.34e-05)|Breast(839;0.0634)|Lung NSC(810;0.0804)				TCTTTCTCTTCTTTGGTGTCT	0.458													25	62	---	---	---	---	PASS
RICTOR	253260	broad.mit.edu	37	5	38950055	38950055	+	Missense_Mutation	SNP	T	C	C			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:38950055T>C	uc003jlp.2	-	31	3919	c.3895A>G	c.(3895-3897)AGA>GGA	p.R1299G	RICTOR_uc003jlo.2_Missense_Mutation_p.R1299G|RICTOR_uc010ivf.2_Missense_Mutation_p.R1014G	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	rapamycin-insensitive companion of mTOR	1299					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1)	10	all_lung(31;0.000396)					GACTGTGCTCTTCTAGGAAGC	0.438													17	164	---	---	---	---	PASS
PCDHB11	56125	broad.mit.edu	37	5	140580260	140580260	+	Missense_Mutation	SNP	G	A	A			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140580260G>A	uc003liy.2	+	1	913	c.913G>A	c.(913-915)GCA>ACA	p.A305T	PCDHB11_uc011daj.1_5'UTR	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11 precursor	305	Extracellular (Potential).|Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TACTTTAAGAGCACCTCTGGA	0.363													32	19	---	---	---	---	PASS
FAF2	23197	broad.mit.edu	37	5	175933902	175933902	+	Missense_Mutation	SNP	G	C	C			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:175933902G>C	uc003mej.3	+	11	1342	c.1289G>C	c.(1288-1290)GGA>GCA	p.G430A		NM_014613	NP_055428	Q96CS3	FAF2_HUMAN	UBX domain containing 8	430	UBX.				response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding			ovary(1)	1						CAGGAGGCCGGACTCAGCCAC	0.512													3	46	---	---	---	---	PASS
SQSTM1	8878	broad.mit.edu	37	5	179249985	179249985	+	Missense_Mutation	SNP	C	T	T			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:179249985C>T	uc003mkw.3	+	2	328	c.233C>T	c.(232-234)TCC>TTC	p.S78F	SQSTM1_uc011dgr.1_5'UTR|SQSTM1_uc011dgs.1_5'UTR|SQSTM1_uc003mkv.3_Missense_Mutation_p.S78F|SQSTM1_uc003mkx.2_5'UTR	NM_003900	NP_003891	Q13501	SQSTM_HUMAN	sequestosome 1 isoform 1	78	OPR.|Interaction with PRKCZ and dimerization (By similarity).|Interaction with PAWR.				anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding		SQSTM1/ALK(2)	haematopoietic_and_lymphoid_tissue(2)|ovary(1)	3	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTTGCCTTTTCCAGTGACGAG	0.517									Paget_Disease_of_Bone				13	2	---	---	---	---	PASS
DST	667	broad.mit.edu	37	6	56341132	56341132	+	Missense_Mutation	SNP	G	C	C			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:56341132G>C	uc003pdf.2	-	86	15350	c.15322C>G	c.(15322-15324)CTG>GTG	p.L5108V	DST_uc003pcz.3_Missense_Mutation_p.L4930V|DST_uc011dxj.1_Missense_Mutation_p.L4959V|DST_uc011dxk.1_Missense_Mutation_p.L4970V|DST_uc003pcy.3_Missense_Mutation_p.L4604V	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	7016	Spectrin 20.				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|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			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GCCCAGGCCAGCACCTGTCAG	0.383													5	6	---	---	---	---	PASS
COL12A1	1303	broad.mit.edu	37	6	75892986	75892986	+	Silent	SNP	G	A	A			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:75892986G>A	uc003phs.2	-	10	1837	c.1671C>T	c.(1669-1671)TTC>TTT	p.F557F	COL12A1_uc003pht.2_Intron|COL12A1_uc003phu.1_Silent_p.F215F	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	557	VWFA 2.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						CAGGATCTCTGAAAGCATCTG	0.428													71	97	---	---	---	---	PASS
EPHA7	2045	broad.mit.edu	37	6	94120288	94120288	+	Missense_Mutation	SNP	C	T	T			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:94120288C>T	uc003poe.2	-	3	1004	c.763G>A	c.(763-765)GAA>AAA	p.E255K	EPHA7_uc003pof.2_Missense_Mutation_p.E255K|EPHA7_uc011eac.1_Missense_Mutation_p.E255K|EPHA7_uc003pog.3_Missense_Mutation_p.E255K	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	ephrin receptor EphA7 precursor	255	Extracellular (Potential).|Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1)	28		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		ACTAACCATTCTCCTTCTGCA	0.463													24	38	---	---	---	---	PASS
LAMA2	3908	broad.mit.edu	37	6	129714246	129714246	+	Missense_Mutation	SNP	A	G	G	rs141950826		TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:129714246A>G	uc003qbn.2	+	37	5396	c.5291A>G	c.(5290-5292)GAA>GGA	p.E1764G	LAMA2_uc003qbo.2_Missense_Mutation_p.E1764G	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	1764	Domain II and I.|Potential.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TCCCGGGGGGAAAATGAAGAA	0.453													25	28	---	---	---	---	PASS
BCLAF1	9774	broad.mit.edu	37	6	136589359	136589359	+	Missense_Mutation	SNP	G	A	A			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:136589359G>A	uc003qgx.1	-	10	2591	c.2338C>T	c.(2338-2340)CAC>TAC	p.H780Y	BCLAF1_uc011edb.1_Missense_Mutation_p.H108Y|BCLAF1_uc003qgw.1_Missense_Mutation_p.H607Y|BCLAF1_uc003qgy.1_Missense_Mutation_p.H778Y|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.H778Y	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1 isoform	780					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			ovary(1)	1	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		ATTTCATGGTGAGTTTTAAAT	0.388													34	108	---	---	---	---	PASS
AKAP12	9590	broad.mit.edu	37	6	151670166	151670166	+	Missense_Mutation	SNP	G	A	A			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:151670166G>A	uc011eep.1	+	4	880	c.640G>A	c.(640-642)GAC>AAC	p.D214N	AKAP12_uc003qoe.2_Missense_Mutation_p.D214N|AKAP12_uc003qof.2_Missense_Mutation_p.D116N|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Missense_Mutation_p.D109N	NM_005100	NP_005091	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12 isoform 1	214					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	8		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		AGGGGCTGGCGACCACAAGGA	0.517													33	37	---	---	---	---	PASS
CDK13	8621	broad.mit.edu	37	7	40134111	40134111	+	Silent	SNP	C	T	T			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:40134111C>T	uc003thh.3	+	14	4353	c.4071C>T	c.(4069-4071)AGC>AGT	p.S1357S	CDK13_uc003thi.3_Silent_p.S1297S|CDK13_uc003thj.2_Silent_p.S408S|CDK13_uc003thk.2_Silent_p.S290S	NM_003718	NP_003709	Q14004	CDK13_HUMAN	cell division cycle 2-like 5 isoform 1	1357					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			lung(2)|skin(2)|ovary(1)	5						GTCTAGGAAGCAGTTCTGCTC	0.433													47	88	---	---	---	---	PASS
RUNDC3B	154661	broad.mit.edu	37	7	87329807	87329807	+	Missense_Mutation	SNP	A	T	T			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:87329807A>T	uc003ujb.2	+	4	771	c.360A>T	c.(358-360)AAA>AAT	p.K120N	ABCB1_uc003uiz.1_Intron|ABCB1_uc003uja.1_Intron|ABCB1_uc010lei.1_Intron|RUNDC3B_uc011khd.1_Missense_Mutation_p.K103N|RUNDC3B_uc011khe.1_Missense_Mutation_p.K103N|RUNDC3B_uc003ujc.2_Missense_Mutation_p.K103N|RUNDC3B_uc003ujd.2_Missense_Mutation_p.K25N	NM_138290	NP_612147	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B isoform a	120	RUN.									skin(1)	1	Esophageal squamous(14;0.00164)					CTTGCCGGAAAGTTTCACAGA	0.378													16	51	---	---	---	---	PASS
ZAN	7455	broad.mit.edu	37	7	100348836	100348836	+	Missense_Mutation	SNP	C	T	T			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100348836C>T	uc003uwj.2	+	13	1718	c.1553C>T	c.(1552-1554)ACG>ATG	p.T518M	ZAN_uc003uwk.2_Missense_Mutation_p.T518M|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	518	MAM 3.|Extracellular (Potential).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GGAAGCAACACGGCCTCTGTG	0.517													11	21	---	---	---	---	PASS
PLOD3	8985	broad.mit.edu	37	7	100859433	100859433	+	Intron	SNP	C	G	G			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100859433C>G	uc003uyd.2	-						ZNHIT1_uc003uye.2_5'Flank|ZNHIT1_uc003uyf.2_5'Flank	NM_001084	NP_001075	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase						protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			ovary(1)|skin(1)	2	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	CTTGGGCACTCTGCCACTCAC	0.657													21	17	---	---	---	---	PASS
COG5	10466	broad.mit.edu	37	7	107204283	107204283	+	Missense_Mutation	SNP	G	T	T			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:107204283G>T	uc003ved.2	-	1	677	c.152C>A	c.(151-153)GCG>GAG	p.A51E	COG5_uc003vec.2_Missense_Mutation_p.A51E|COG5_uc003vee.2_Missense_Mutation_p.A51E|DUS4L_uc003veg.2_5'Flank|DUS4L_uc003veh.2_5'Flank|DUS4L_uc011klw.1_5'Flank|DUS4L_uc011klx.1_5'Flank	NM_181733	NP_859422	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5 isoform	51					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			central_nervous_system(2)|skin(2)	4						AGCTGCAGCCGCTCCAGAGCC	0.662													17	26	---	---	---	---	PASS
TAS2R16	50833	broad.mit.edu	37	7	122635238	122635238	+	Missense_Mutation	SNP	G	C	C			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:122635238G>C	uc003vkl.1	-	1	517	c.451C>G	c.(451-453)CAA>GAA	p.Q151E		NM_016945	NP_058641	Q9NYV7	T2R16_HUMAN	taste receptor T2R16	151	Extracellular (Potential).				detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			ovary(1)|skin(1)	2						AACTGAATTTGAATGTAATTC	0.398													17	54	---	---	---	---	PASS
C7orf45	136263	broad.mit.edu	37	7	129856090	129856090	+	Missense_Mutation	SNP	C	T	T			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:129856090C>T	uc003vpp.2	+	3	562	c.515C>T	c.(514-516)TCA>TTA	p.S172L		NM_145268	NP_660311	Q8WWF3	CG045_HUMAN	hypothetical protein LOC136263	172						integral to membrane					0	Melanoma(18;0.0435)					CACCACCCATCACCAGACAGT	0.478													27	36	---	---	---	---	PASS
TRIM24	8805	broad.mit.edu	37	7	138265404	138265404	+	Missense_Mutation	SNP	G	A	A			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:138265404G>A	uc003vuc.2	+	16	2898	c.2683G>A	c.(2683-2685)GAA>AAA	p.E895K	TRIM24_uc003vub.2_Missense_Mutation_p.E861K	NM_015905	NP_056989	O15164	TIF1A_HUMAN	transcriptional intermediary factor 1 alpha	895	Nuclear localization signal (Potential).				cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(3)|ovary(2)|stomach(1)|breast(1)|skin(1)	8						AAAGAAAACTGAAGGCCTTGT	0.373													45	65	---	---	---	---	PASS
DENND2A	27147	broad.mit.edu	37	7	140301990	140301990	+	Missense_Mutation	SNP	C	T	T			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:140301990C>T	uc010lnj.2	-	1	353	c.208G>A	c.(208-210)GGA>AGA	p.G70R	DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Missense_Mutation_p.G70R|DENND2A_uc003vvw.2_Missense_Mutation_p.G70R|DENND2A_uc003vvx.2_Missense_Mutation_p.G70R	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	70										ovary(3)|breast(1)	4	Melanoma(164;0.00956)					TCCTCCTGTCCGTCTGCTCTC	0.547													69	63	---	---	---	---	PASS
TAS2R41	259287	broad.mit.edu	37	7	143175246	143175246	+	Missense_Mutation	SNP	C	T	T			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:143175246C>T	uc003wdc.1	+	1	281	c.281C>T	c.(280-282)TCA>TTA	p.S94L	uc003wda.2_Intron	NM_176883	NP_795364	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	94	Helical; Name=3; (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity			pancreas(1)|skin(1)	2	Melanoma(164;0.15)					TTCCTGAACTCAGCCACCTTC	0.537													28	38	---	---	---	---	PASS
SGCZ	137868	broad.mit.edu	37	8	13959877	13959877	+	Intron	SNP	G	A	A			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:13959877G>A	uc003wwq.2	-						SGCZ_uc010lss.2_Intron	NM_139167	NP_631906	Q96LD1	SGCZ_HUMAN	sarcoglycan zeta						cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				ovary(2)|central_nervous_system(1)	3				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		CAACTTTCTGGGACTCACCTC	0.488													12	11	---	---	---	---	PASS
MYST3	7994	broad.mit.edu	37	8	41834781	41834781	+	Missense_Mutation	SNP	G	A	A			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:41834781G>A	uc010lxb.2	-	8	1652	c.1108C>T	c.(1108-1110)CTT>TTT	p.L370F	MYST3_uc010lxc.2_Missense_Mutation_p.L370F|MYST3_uc003xon.3_Missense_Mutation_p.L370F|MYST3_uc010lxd.2_Missense_Mutation_p.L370F	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	MYST histone acetyltransferase (monocytic	370	Interaction with RUNX1-1.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)			TGGCTGGAAAGAGTGATTTTT	0.418													36	44	---	---	---	---	PASS
PRKDC	5591	broad.mit.edu	37	8	48711773	48711773	+	Nonsense_Mutation	SNP	G	C	C			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:48711773G>C	uc003xqi.2	-	73	10352	c.10295C>G	c.(10294-10296)TCA>TGA	p.S3432*	PRKDC_uc003xqj.2_Nonsense_Mutation_p.S3432*|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	3432	FAT.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CAATTCACCTGATGCATTCTC	0.433								NHEJ					18	30	---	---	---	---	PASS
PXDNL	137902	broad.mit.edu	37	8	52233370	52233370	+	Missense_Mutation	SNP	C	T	T			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:52233370C>T	uc003xqu.3	-	22	4335	c.4234G>A	c.(4234-4236)GAA>AAA	p.E1412K	PXDNL_uc003xqt.3_RNA	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	1412	VWFC.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GTGCAGTCTTCTTTCATCCAG	0.512													43	50	---	---	---	---	PASS
NPBWR1	2831	broad.mit.edu	37	8	53852511	53852511	+	Missense_Mutation	SNP	C	T	T			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:53852511C>T	uc011ldu.1	+	1	44	c.44C>T	c.(43-45)TCG>TTG	p.S15L		NM_005285	NP_005276	P48145	NPBW1_HUMAN	G protein-coupled receptor 7	15	Extracellular (Potential).				synaptic transmission	plasma membrane	opioid receptor activity|protein binding			ovary(2)|breast(1)	3		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				GCCAACGCATCGGGCCCGGAC	0.711													3	8	---	---	---	---	PASS
RP1	6101	broad.mit.edu	37	8	55538285	55538285	+	Missense_Mutation	SNP	T	A	A			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:55538285T>A	uc003xsd.1	+	4	1991	c.1843T>A	c.(1843-1845)TTT>ATT	p.F615I	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	615					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			skin(7)|ovary(4)|pancreas(1)	12		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TGCAACCCATTTTTCAAGTAA	0.373													6	71	---	---	---	---	PASS
CHD7	55636	broad.mit.edu	37	8	61655054	61655054	+	Missense_Mutation	SNP	T	C	C			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:61655054T>C	uc003xue.2	+	2	1540	c.1063T>C	c.(1063-1065)TCA>CCA	p.S355P		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	355					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			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		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)			AGGATTCCCATCAAACAGTGG	0.438													19	47	---	---	---	---	PASS
ZFHX4	79776	broad.mit.edu	37	8	77745601	77745601	+	Missense_Mutation	SNP	G	C	C			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:77745601G>C	uc003yav.2	+	5	3662	c.3275G>C	c.(3274-3276)TGT>TCT	p.C1092S	ZFHX4_uc003yau.1_Missense_Mutation_p.C1118S|ZFHX4_uc003yaw.1_Missense_Mutation_p.C1092S	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	1092						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GCCAGGACTTGTGATGATGAT	0.423										HNSCC(33;0.089)			13	6	---	---	---	---	PASS
PTK2	5747	broad.mit.edu	37	8	141716272	141716272	+	Silent	SNP	G	A	A			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:141716272G>A	uc003yvu.2	-	24	2405	c.2175C>T	c.(2173-2175)TCC>TCT	p.S725S	PTK2_uc011ljp.1_Silent_p.S33S|PTK2_uc003yvo.2_Silent_p.S353S|PTK2_uc011ljq.1_Silent_p.S420S|PTK2_uc003yvp.2_Silent_p.S393S|PTK2_uc003yvq.2_Silent_p.S251S|PTK2_uc003yvr.2_Silent_p.S665S|PTK2_uc003yvs.2_Silent_p.S725S|PTK2_uc003yvt.2_Silent_p.S747S|PTK2_uc003yvv.2_Silent_p.S625S|PTK2_uc011ljr.1_Silent_p.S725S	NM_153831	NP_722560	Q05397	FAK1_HUMAN	PTK2 protein tyrosine kinase 2 isoform a	725	Pro-rich.|Interaction with TGFB1I1.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			ATCCTTCGCTGGACCTCGGAC	0.403													27	27	---	---	---	---	PASS
BAI1	575	broad.mit.edu	37	8	143623493	143623493	+	Missense_Mutation	SNP	C	T	T			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:143623493C>T	uc003ywm.2	+	27	4081	c.3898C>T	c.(3898-3900)CCC>TCC	p.P1300S		NM_001702	NP_001693	O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1300	Cytoplasmic (Potential).				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1)	8	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CGGGCCCCTGCCCGACTTCCC	0.652													8	18	---	---	---	---	PASS
PLEC	5339	broad.mit.edu	37	8	145009237	145009237	+	Missense_Mutation	SNP	G	A	A			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145009237G>A	uc003zaf.1	-	8	1348	c.1178C>T	c.(1177-1179)TCG>TTG	p.S393L	PLEC_uc003zab.1_Missense_Mutation_p.S256L|PLEC_uc003zac.1_Missense_Mutation_p.S260L|PLEC_uc003zad.2_Missense_Mutation_p.S256L|PLEC_uc003zae.1_Missense_Mutation_p.S224L|PLEC_uc003zag.1_Missense_Mutation_p.S234L|PLEC_uc003zah.2_Missense_Mutation_p.S242L|PLEC_uc003zaj.2_Missense_Mutation_p.S283L	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	393	CH 2.|Globular 1.|Actin-binding.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						ATACAGCGACGAGACGTAGGT	0.687													34	57	---	---	---	---	PASS
DMRT3	58524	broad.mit.edu	37	9	990681	990681	+	Silent	SNP	A	C	C			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:990681A>C	uc003zgw.1	+	2	1133	c.1095A>C	c.(1093-1095)CCA>CCC	p.P365P		NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor	365					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			ovary(2)|central_nervous_system(1)	3		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		TCCCCCAGCCACCCCGGTACC	0.597													11	62	---	---	---	---	PASS
CDKN2A	1029	broad.mit.edu	37	9	21971036	21971036	+	Missense_Mutation	SNP	C	A	A	rs121913381		TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:21971036C>A	uc003zpk.2	-	2	534	c.322G>T	c.(322-324)GAT>TAT	p.D108Y	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.R163L	NM_000077	NP_000068	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 1	108			D -> Y (in a head and neck tumor).|D -> H (in a bladder tumor).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	p.0?(1112)|p.D108Y(14)|p.?(13)|p.D108H(9)|p.D108N(5)|p.H83fs*2(2)|p.D105fs*8(1)|p.A68fs*3(1)|p.R107fs*33(1)		haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCCCAGGCATCGCGCACGTCC	0.741		17							Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			19	2	---	---	---	---	PASS
HIATL1	84641	broad.mit.edu	37	9	97207434	97207434	+	Silent	SNP	G	A	A			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:97207434G>A	uc004aur.2	+	6	968	c.699G>A	c.(697-699)CAG>CAA	p.Q233Q	HIATL1_uc011luh.1_Silent_p.Q168Q	NM_032558	NP_115947	Q5SR56	HIAL1_HUMAN	hippocampus abundant transcript-like 1	233	Extracellular (Potential).				transmembrane transport	integral to membrane|plasma membrane	protein binding|transporter activity			ovary(2)	2		Acute lymphoblastic leukemia(62;0.136)				GGGGAGCTCAGATTTCTTGGA	0.423													10	18	---	---	---	---	PASS
OR13C9	286362	broad.mit.edu	37	9	107379799	107379799	+	Missense_Mutation	SNP	G	C	C			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:107379799G>C	uc011lvr.1	-	1	687	c.687C>G	c.(685-687)CAC>CAG	p.H229Q		NM_001001956	NP_001001956	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C,	229	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						CCTCAGAGGAGTGAATCTTGA	0.433													30	41	---	---	---	---	PASS
ZNF462	58499	broad.mit.edu	37	9	109688263	109688263	+	Silent	SNP	G	A	A	rs147884090		TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:109688263G>A	uc004bcz.2	+	3	2359	c.2070G>A	c.(2068-2070)GTG>GTA	p.V690V	ZNF462_uc010mto.2_Silent_p.V538V|ZNF462_uc004bda.2_Silent_p.V538V	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	690					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5						TGTCACCCGTGAAGAAGAGAA	0.433													61	93	---	---	---	---	PASS
C9orf91	203197	broad.mit.edu	37	9	117400911	117400911	+	Missense_Mutation	SNP	G	A	A			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:117400911G>A	uc004bjd.3	+	8	971	c.754G>A	c.(754-756)GAG>AAG	p.E252K	C9orf91_uc004bje.3_Missense_Mutation_p.E231K|C9orf91_uc004bjf.3_Missense_Mutation_p.E151K	NM_153045	NP_694590	Q5VZI3	CI091_HUMAN	hypothetical protein LOC203197	252						integral to membrane				pancreas(1)	1						TGAGAACTTGGAGGATGCTCC	0.557													23	28	---	---	---	---	PASS
TNC	3371	broad.mit.edu	37	9	117827085	117827085	+	Missense_Mutation	SNP	C	T	T	rs141417605		TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:117827085C>T	uc004bjj.3	-	11	3690	c.3328G>A	c.(3328-3330)GAG>AAG	p.E1110K	TNC_uc010mvf.2_Missense_Mutation_p.E1110K	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	1110	Fibronectin type-III 6.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						TTGTTGGCCTCCTGCACCTGA	0.592													17	70	---	---	---	---	PASS
RABEPK	10244	broad.mit.edu	37	9	127995969	127995969	+	Missense_Mutation	SNP	G	C	C			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:127995969G>C	uc004bpi.2	+	9	1002	c.829G>C	c.(829-831)GAG>CAG	p.E277Q	RABEPK_uc004bpj.2_Missense_Mutation_p.E226Q|RABEPK_uc004bpk.2_Missense_Mutation_p.E277Q|RABEPK_uc004bpl.1_3'UTR|RABEPK_uc004bpm.2_Missense_Mutation_p.E277Q	NM_005833	NP_005824	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	277	Kelch 5.				receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane				ovary(1)	1						CAACATAGAAGAGCAGCATTG	0.328													73	118	---	---	---	---	PASS
LAMC3	10319	broad.mit.edu	37	9	133927932	133927932	+	Missense_Mutation	SNP	T	C	C			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:133927932T>C	uc004caa.1	+	10	1783	c.1685T>C	c.(1684-1686)TTC>TCC	p.F562S		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3 precursor	562	Laminin IV type A.				cell adhesion	basement membrane|membrane	structural molecule activity			ovary(2)|pancreas(1)	3	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		ATACTGACCTTCCGGGTGCCC	0.597											OREG0019556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	65	---	---	---	---	PASS
PMPCA	23203	broad.mit.edu	37	9	139311436	139311436	+	Missense_Mutation	SNP	C	T	T			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:139311436C>T	uc004chl.2	+	7	672	c.667C>T	c.(667-669)CGT>TGT	p.R223C	PMPCA_uc010nbl.2_Missense_Mutation_p.R123C|PMPCA_uc011mdz.1_Missense_Mutation_p.R92C|PMPCA_uc004chm.1_5'UTR|PMPCA_uc004chn.1_5'Flank	NM_015160	NP_055975	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	223					proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding				0		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		TGGCCTCCACCGTTTCTGCCC	0.562													10	11	---	---	---	---	PASS
ENTPD2	954	broad.mit.edu	37	9	139946697	139946697	+	Missense_Mutation	SNP	G	C	C			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:139946697G>C	uc004ckw.1	-	2	277	c.221C>G	c.(220-222)TCC>TGC	p.S74C	ENTPD2_uc004ckv.1_5'Flank|ENTPD2_uc004ckx.1_Missense_Mutation_p.S74C	NM_203468	NP_982293	Q9Y5L3	ENTP2_HUMAN	ectonucleoside triphosphate diphosphohydrolase 2	74	Extracellular (Potential).					integral to membrane	ATP binding				0	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		AACATCACAGGAGCTGTGCTG	0.607													37	32	---	---	---	---	PASS
PNPLA7	375775	broad.mit.edu	37	9	140437924	140437924	+	Missense_Mutation	SNP	G	A	A			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:140437924G>A	uc004cnf.2	-	5	728	c.391C>T	c.(391-393)CAC>TAC	p.H131Y	PNPLA7_uc010ncj.1_Missense_Mutation_p.H156Y	NM_152286	NP_689499	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	131					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			skin(1)	1	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GATGGCAGGTGAGAATTCTTC	0.612													34	42	---	---	---	---	PASS
EHMT1	79813	broad.mit.edu	37	9	140611570	140611570	+	Missense_Mutation	SNP	C	A	A			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:140611570C>A	uc011mfc.1	+	3	615	c.578C>A	c.(577-579)GCC>GAC	p.A193D	EHMT1_uc004coa.2_Missense_Mutation_p.A193D|EHMT1_uc004cob.1_Missense_Mutation_p.A162D	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	193					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|pancreas(1)	3	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		AAGCTCCCGGCCCCTGGCGCC	0.622													13	39	---	---	---	---	PASS
ADARB2	105	broad.mit.edu	37	10	1405757	1405757	+	Silent	SNP	C	A	A			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:1405757C>A	uc009xhq.2	-	3	917	c.543G>T	c.(541-543)GCG>GCT	p.A181A		NM_018702	NP_061172	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2	181	DRBM 1.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			large_intestine(2)|central_nervous_system(1)	3		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		CCAGCTCCGCCGCGCGCATCT	0.607													12	2	---	---	---	---	PASS
USP6NL	9712	broad.mit.edu	37	10	11504812	11504812	+	Silent	SNP	A	T	T			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:11504812A>T	uc001ikt.3	-	15	2436	c.2115T>A	c.(2113-2115)ACT>ACA	p.T705T	USP6NL_uc001iks.1_Silent_p.T722T	NM_014688	NP_055503	Q92738	US6NL_HUMAN	USP6 N-terminal like isoform 1	705						intracellular	Rab GTPase activator activity				0						CCCCAGCACCAGTGTCAACAG	0.493													8	7	---	---	---	---	PASS
ABI1	10006	broad.mit.edu	37	10	27040691	27040691	+	Missense_Mutation	SNP	G	A	A			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:27040691G>A	uc001isx.2	-	11	1354	c.1187C>T	c.(1186-1188)CCG>CTG	p.P396L	ABI1_uc001ite.2_Missense_Mutation_p.P334L|ABI1_uc010qdh.1_Missense_Mutation_p.P276L|ABI1_uc010qdi.1_Missense_Mutation_p.P217L|ABI1_uc001isy.2_Missense_Mutation_p.P369L|ABI1_uc001ita.2_Missense_Mutation_p.P340L|ABI1_uc001isz.2_Missense_Mutation_p.P364L|ABI1_uc001itb.2_Missense_Mutation_p.P384L|ABI1_uc001itc.2_Missense_Mutation_p.P368L|ABI1_uc010qdj.1_Missense_Mutation_p.P310L|ABI1_uc001itd.2_Missense_Mutation_p.P339L|ABI1_uc010qdk.1_Missense_Mutation_p.P281L|ABI1_uc010qdg.1_Missense_Mutation_p.P206L	NM_005470	NP_005461	Q8IZP0	ABI1_HUMAN	abl-interactor 1 isoform a	396	Pro-rich.				actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome	cytoskeletal protein binding			central_nervous_system(1)	1						AGGTGGTGGCGGTGGAGTTGG	0.418													4	5	---	---	---	---	PASS
ZNF37A	7587	broad.mit.edu	37	10	38403713	38403713	+	Missense_Mutation	SNP	G	T	T			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:38403713G>T	uc001izk.2	+	6	865	c.46G>T	c.(46-48)GGC>TGC	p.G16C	ZNF37A_uc001izl.2_Missense_Mutation_p.G16C|ZNF37A_uc001izm.2_Missense_Mutation_p.G16C	NM_001007094	NP_001007095	P17032	ZN37A_HUMAN	zinc finger protein 37a	16	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)	1						TGTGACTGTGGGCTTCACTCA	0.478													37	37	---	---	---	---	PASS
ZNF33B	7582	broad.mit.edu	37	10	43088334	43088334	+	Silent	SNP	C	G	G	rs149979023		TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:43088334C>G	uc001jaf.1	-	5	2179	c.2064G>C	c.(2062-2064)ACG>ACC	p.T688T	ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Silent_p.T576T|ZNF33B_uc001jad.2_Intron	NM_006955	NP_008886	Q06732	ZN33B_HUMAN	zinc finger protein 33B	688						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						GTTTCTCCCCCGTGTGCTTTC	0.408													20	80	---	---	---	---	PASS
SLIT1	6585	broad.mit.edu	37	10	98823308	98823308	+	Missense_Mutation	SNP	G	C	C			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:98823308G>C	uc001kmw.2	-	8	949	c.697C>G	c.(697-699)CGG>GGG	p.R233G	SLIT1_uc009xvh.1_Missense_Mutation_p.R233G	NM_003061	NP_003052	O75093	SLIT1_HUMAN	slit homolog 1 precursor	233	LRRCT 1.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			ovary(4)	4		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		ATGGTTGGCCGCTGCCTCAGC	0.632													12	1	---	---	---	---	PASS
SORCS1	114815	broad.mit.edu	37	10	108448054	108448054	+	Missense_Mutation	SNP	C	A	A			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:108448054C>A	uc001kym.2	-	10	1464	c.1456G>T	c.(1456-1458)GAC>TAC	p.D486Y	SORCS1_uc001kyl.2_Missense_Mutation_p.D486Y|SORCS1_uc009xxs.2_Missense_Mutation_p.D486Y|SORCS1_uc001kyn.1_Missense_Mutation_p.D486Y|SORCS1_uc001kyo.2_Missense_Mutation_p.D486Y	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN	SORCS receptor 1 isoform a	486	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity|protein binding			breast(1)|central_nervous_system(1)	2		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		ACTTGGTTGTCAATCTTCTTG	0.448													24	6	---	---	---	---	PASS
CHID1	66005	broad.mit.edu	37	11	904721	904721	+	Missense_Mutation	SNP	C	A	A			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:904721C>A	uc001lsl.2	-	2	257	c.96G>T	c.(94-96)AAG>AAT	p.K32N	CHID1_uc010qwu.1_Missense_Mutation_p.K62N|CHID1_uc010qwv.1_Missense_Mutation_p.K93N|CHID1_uc001lsn.2_Missense_Mutation_p.K32N|CHID1_uc001lsm.2_Missense_Mutation_p.K32N|CHID1_uc001lso.2_Missense_Mutation_p.K32N|CHID1_uc001lsp.2_Missense_Mutation_p.K32N|CHID1_uc010qww.1_Missense_Mutation_p.K32N	NM_023947	NP_076436	Q9BWS9	CHID1_HUMAN	chitinase domain containing 1 isoform a	32					chitin catabolic process|innate immune response	extracellular region|lysosome	cation binding|chitinase activity				0		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)		CCAGCAGCGTCTTTGAGGCGG	0.567													26	7	---	---	---	---	PASS
MUC5B	727897	broad.mit.edu	37	11	1265993	1265993	+	Missense_Mutation	SNP	G	T	T			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:1265993G>T	uc009ycr.1	+	48	9923	c.9797G>T	c.(9796-9798)CGC>CTC	p.R3266L	MUC5B_uc001ltb.2_Missense_Mutation_p.R2631L	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	2628	7 X Cys-rich subdomain repeats.|11 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.			Missing (in Ref. 6; AAB61398).|RTL -> LTP (in Ref. 4; CAA96577).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGGACGGCACGCACGCTTCCA	0.642													4	63	---	---	---	---	PASS
MUC5B	727897	broad.mit.edu	37	11	1265997	1265997	+	Silent	SNP	G	T	T			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:1265997G>T	uc009ycr.1	+	48	9927	c.9801G>T	c.(9799-9801)ACG>ACT	p.T3267T	MUC5B_uc001ltb.2_Silent_p.T2632T	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	2629	7 X Cys-rich subdomain repeats.|11 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.			Missing (in Ref. 6; AAB61398).|RTL -> LTP (in Ref. 4; CAA96577).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CGGCACGCACGCTTCCAGTGT	0.637													4	56	---	---	---	---	PASS
RNF141	50862	broad.mit.edu	37	11	10546918	10546918	+	Missense_Mutation	SNP	A	C	C			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:10546918A>C	uc001mis.1	-	4	408	c.255T>G	c.(253-255)ATT>ATG	p.I85M	RNF141_uc009yga.1_RNA|RNF141_uc001mit.1_Missense_Mutation_p.I85M	NM_016422	NP_057506	Q8WVD5	RN141_HUMAN	ring finger protein 141	85							zinc ion binding				0				all cancers(16;4.63e-08)|Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.064)		TGCTTTTGTTAATCTAAAAAT	0.338													4	19	---	---	---	---	PASS
DBX1	120237	broad.mit.edu	37	11	20181580	20181580	+	Silent	SNP	A	C	C			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:20181580A>C	uc001mpw.1	-	1	291	c.291T>G	c.(289-291)ACT>ACG	p.T97T		NM_001029865	NP_001025036	A6NMT0	DBX1_HUMAN	developing brain homeobox 1	97					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						GGGAGAAGGCAGTCGGCGGAG	0.706													3	1	---	---	---	---	PASS
CRY2	1408	broad.mit.edu	37	11	45891638	45891638	+	Missense_Mutation	SNP	G	T	T			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:45891638G>T	uc010rgn.1	+	8	1314	c.1292G>T	c.(1291-1293)AGC>ATC	p.S431I	CRY2_uc009ykw.2_Missense_Mutation_p.S349I|CRY2_uc010rgo.1_Missense_Mutation_p.S153I	NM_021117	NP_066940	Q49AN0	CRY2_HUMAN	cryptochrome 2 (photolyase-like) isoform 1	410	FAD-binding.|Required for inhibition of CLOCK-ARNTL- mediated transcription (By similarity).				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding			central_nervous_system(1)	1						GCAGATTTCAGCGTGAACGCA	0.562													3	51	---	---	---	---	PASS
OR4S2	219431	broad.mit.edu	37	11	55418397	55418397	+	Missense_Mutation	SNP	C	A	A			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55418397C>A	uc001nhs.1	+	1	18	c.18C>A	c.(16-18)AAC>AAA	p.N6K		NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S,	6	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3		all_epithelial(135;0.0748)				AAATAAACAACGTAACTGAAT	0.313													14	62	---	---	---	---	PASS
OR5F1	338674	broad.mit.edu	37	11	55761490	55761490	+	Silent	SNP	A	T	T			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55761490A>T	uc010riv.1	-	1	612	c.612T>A	c.(610-612)GGT>GGA	p.G204G		NM_003697	NP_003688	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F,	204	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2	Esophageal squamous(21;0.00448)					CAATATTCACACCAGCCAAAA	0.463													12	17	---	---	---	---	PASS
AHNAK	79026	broad.mit.edu	37	11	62294836	62294836	+	Silent	SNP	G	T	T			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:62294836G>T	uc001ntl.2	-	5	7353	c.7053C>A	c.(7051-7053)CCC>CCA	p.P2351P	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	2351					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				CATCTAATTTGGGACCTTTGA	0.433													42	102	---	---	---	---	PASS
HRASLS5	117245	broad.mit.edu	37	11	63233629	63233629	+	Missense_Mutation	SNP	C	T	T			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:63233629C>T	uc001nwy.2	-	5	874	c.700G>A	c.(700-702)GAG>AAG	p.E234K	HRASLS5_uc001nwz.2_Missense_Mutation_p.E224K|HRASLS5_uc010rmq.1_Intron|HRASLS5_uc009yos.2_RNA	NM_054108	NP_473449	Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5 isoform 1	234										ovary(1)	1						ACAAAGTGCTCACAGTTCCCT	0.517													27	25	---	---	---	---	PASS
FRMD8	83786	broad.mit.edu	37	11	65167257	65167257	+	Missense_Mutation	SNP	A	G	G			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:65167257A>G	uc001odu.3	+	8	1046	c.854A>G	c.(853-855)CAC>CGC	p.H285R	FRMD8_uc009yqj.2_Missense_Mutation_p.H229R|FRMD8_uc010rof.1_Missense_Mutation_p.H251R	NM_031904	NP_114110	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	285	FERM.					cytoskeleton	binding			lung(1)|pancreas(1)	2						GGCTTTTTGCACCGGGGTGGG	0.627													12	27	---	---	---	---	PASS
PCNXL3	399909	broad.mit.edu	37	11	65392009	65392009	+	Missense_Mutation	SNP	G	C	C			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:65392009G>C	uc001oey.2	+	15	2784	c.2784G>C	c.(2782-2784)ATG>ATC	p.M928I	PCNXL3_uc009yqn.2_5'Flank|PCNXL3_uc001oez.2_5'Flank	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	pecanex-like 3	928						integral to membrane					0						CCTGCCTCATGTACCTGCTGG	0.642													2	1	---	---	---	---	PASS
SLC6A12	6539	broad.mit.edu	37	12	302493	302493	+	Missense_Mutation	SNP	A	G	G			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:302493A>G	uc001qhz.2	-	15	2023	c.1480T>C	c.(1480-1482)TGG>CGG	p.W494R	SLC6A12_uc001qhx.2_Missense_Mutation_p.W151R|SLC6A12_uc001qhy.2_Missense_Mutation_p.W50R|SLC6A12_uc001qia.2_Missense_Mutation_p.W494R|SLC6A12_uc001qib.2_Missense_Mutation_p.W494R|SLC6A12_uc009zdh.1_Missense_Mutation_p.W494R	NM_003044	NP_003035	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter	494					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			ovary(1)	1	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			ACCAGGGGCCATGGCCGGTAG	0.592													85	47	---	---	---	---	PASS
SLC6A13	6540	broad.mit.edu	37	12	344277	344277	+	Silent	SNP	G	C	C			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:344277G>C	uc001qic.1	-	7	863	c.810C>G	c.(808-810)CTC>CTG	p.L270L	SLC6A13_uc009zdj.1_Silent_p.L270L|SLC6A13_uc010sdl.1_Silent_p.L178L|SLC6A13_uc010sdm.1_Silent_p.L151L	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter	270					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity				0	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			ACAGACGCGTGAGGTTTGGGT	0.572													11	102	---	---	---	---	PASS
FAM90A1	55138	broad.mit.edu	37	12	8374448	8374448	+	Silent	SNP	G	C	C			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:8374448G>C	uc001qui.2	-	7	1924	c.1365C>G	c.(1363-1365)TCC>TCG	p.S455S	FAM90A1_uc001quh.2_Silent_p.S455S	NM_018088	NP_060558	Q86YD7	F90A1_HUMAN	hypothetical protein LOC55138	455							nucleic acid binding|zinc ion binding			ovary(1)	1				Kidney(36;0.0866)		TGTCCTCTGAGGAGGAGGGAA	0.607													6	117	---	---	---	---	PASS
A2ML1	144568	broad.mit.edu	37	12	8994045	8994045	+	Silent	SNP	C	T	T			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:8994045C>T	uc001quz.3	+	11	1259	c.1161C>T	c.(1159-1161)TTC>TTT	p.F387F	A2ML1_uc001qva.1_5'Flank	NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN	alpha-2-macroglobulin-like 1 precursor	231						extracellular space	endopeptidase inhibitor activity			ovary(2)|skin(1)	3						ATGGAACCTTCAACCAGACCC	0.463													97	63	---	---	---	---	PASS
KLRC3	3823	broad.mit.edu	37	12	10569292	10569292	+	Silent	SNP	T	A	A			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:10569292T>A	uc001qyf.2	-	5	606	c.561A>T	c.(559-561)ACA>ACT	p.T187T	KLRC3_uc001qyh.2_Silent_p.T187T|KLRC3_uc001qyi.1_Silent_p.T187T	NM_002261	NP_002252	Q07444	NKG2E_HUMAN	killer cell lectin-like receptor subfamily C,	187	C-type lectin.|Extracellular (Potential).				cellular defense response	integral to membrane	sugar binding|transmembrane receptor activity			ovary(2)|skin(1)	3						AACCATTTATTGTCACCCATG	0.303													26	75	---	---	---	---	PASS
ETV6	2120	broad.mit.edu	37	12	11992157	11992157	+	Missense_Mutation	SNP	G	A	A			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:11992157G>A	uc001qzz.2	+	3	521	c.247G>A	c.(247-249)GAC>AAC	p.D83N		NM_001987	NP_001978	P41212	ETV6_HUMAN	ets variant 6	83	PNT.					cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/NTRK3(234)|ETV6/JAK2(11)	soft_tissue(85)|kidney(66)|breast(55)|salivary_gland(26)|haematopoietic_and_lymphoid_tissue(13)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)|pancreas(1)	250		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				AAGGCCAATTGACAGCAACAC	0.488			T	NTRK3|RUNX1|PDGFRB|ABL1|MN1|ABL2|FACL6|CHIC2|ARNT|JAK2|EVI1|CDX2|STL|HLXB9|MDS2|PER1|SYK|TTL|FGFR3|PAX5	congenital fibrosarcoma|multiple leukemia and lymphoma| secretory breast|MDS|ALL								60	42	---	---	---	---	PASS
PDE3A	5139	broad.mit.edu	37	12	20807117	20807117	+	Silent	SNP	C	A	A			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:20807117C>A	uc001reh.1	+	15	3184	c.3162C>A	c.(3160-3162)ACC>ACA	p.T1054T		NM_000921	NP_000912	Q14432	PDE3A_HUMAN	phosphodiesterase 3A	1054	Catalytic (By similarity).				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			ovary(3)|upper_aerodigestive_tract(1)	4	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	AAGAGGAAACCTGTGAAAATA	0.398													4	75	---	---	---	---	PASS
SLCO1A2	6579	broad.mit.edu	37	12	21454210	21454210	+	Intron	SNP	A	C	C			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:21454210A>C	uc001rer.2	-						SLCO1A2_uc001res.2_Intron|SLCO1A2_uc010siq.1_Intron|SLCO1A2_uc010sio.1_Intron|SLCO1A2_uc010sip.1_Intron|SLCO1A2_uc001ret.2_Intron|SLCO1A2_uc001reu.2_Intron	NM_021094	NP_066580	P46721	SO1A2_HUMAN	organic anion transporting polypeptide A						bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						AGCCCTAAAAATAAATAAAAG	0.333													38	32	---	---	---	---	PASS
LRRK2	120892	broad.mit.edu	37	12	40728879	40728879	+	Silent	SNP	T	C	C			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:40728879T>C	uc001rmg.3	+	40	5989	c.5868T>C	c.(5866-5868)GAT>GAC	p.D1956D	LRRK2_uc009zjw.2_Silent_p.D794D|LRRK2_uc001rmi.2_Silent_p.D789D	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1956	Protein kinase.				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GTTCCTTGGATCGCCTGCTTC	0.527													13	102	---	---	---	---	PASS
PRICKLE1	144165	broad.mit.edu	37	12	42858569	42858569	+	Missense_Mutation	SNP	C	G	G			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:42858569C>G	uc010skv.1	-	7	1554	c.1267G>C	c.(1267-1269)GGT>CGT	p.G423R	PRICKLE1_uc001rnl.2_Missense_Mutation_p.G423R|PRICKLE1_uc010skw.1_Missense_Mutation_p.G423R|PRICKLE1_uc001rnm.2_Missense_Mutation_p.G423R	NM_001144881	NP_001138353	Q96MT3	PRIC1_HUMAN	prickle homolog 1	423					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			ovary(3)|skin(1)	4	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		CTTTTATCACCAAACTTGAGG	0.433													13	57	---	---	---	---	PASS
MLL2	8085	broad.mit.edu	37	12	49434376	49434376	+	Nonsense_Mutation	SNP	C	A	A			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:49434376C>A	uc001rta.3	-	31	7177	c.7177G>T	c.(7177-7179)GAG>TAG	p.E2393*		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	2393	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						CAGCAGCTCTCAGGGGGCGGA	0.632			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			18	6	---	---	---	---	PASS
LRP1	4035	broad.mit.edu	37	12	57600359	57600359	+	Missense_Mutation	SNP	G	C	C			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:57600359G>C	uc001snd.2	+	76	12160	c.11694G>C	c.(11692-11694)GAG>GAC	p.E3898D		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	3898	Extracellular (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	AGGGTGACGAGAGTGTCCGCA	0.587													7	42	---	---	---	---	PASS
ALX1	8092	broad.mit.edu	37	12	85695041	85695041	+	Missense_Mutation	SNP	C	G	G			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:85695041C>G	uc001tae.3	+	4	773	c.769C>G	c.(769-771)CGG>GGG	p.R257G		NM_006982	NP_008913	Q15699	ALX1_HUMAN	cartilage paired-class homeoprotein 1	257					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			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(134;0.134)		TCACTCGCCTCGGACAGATTC	0.483													31	33	---	---	---	---	PASS
STAB2	55576	broad.mit.edu	37	12	104156178	104156178	+	Missense_Mutation	SNP	G	A	A			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:104156178G>A	uc001tjw.2	+	67	7672	c.7486G>A	c.(7486-7488)GAG>AAG	p.E2496K	STAB2_uc009zug.2_RNA	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	2496	Cytoplasmic (Potential).				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(5)	14						CCAGCATTTTGAGGTAAGAGA	0.527													10	28	---	---	---	---	PASS
NUAK1	9891	broad.mit.edu	37	12	106461045	106461045	+	Silent	SNP	C	A	A	rs138538652	byFrequency	TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:106461045C>A	uc001tlj.1	-	7	2901	c.1521G>T	c.(1519-1521)CCG>CCT	p.P507P		NM_014840	NP_055655	O60285	NUAK1_HUMAN	AMPK-related protein kinase 5	507							ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(1)|central_nervous_system(1)	2						TGGCTGGGTCCGGGGGGCTGG	0.602													34	18	---	---	---	---	PASS
UBE3B	89910	broad.mit.edu	37	12	109949053	109949053	+	Missense_Mutation	SNP	G	A	A			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:109949053G>A	uc001top.2	+	18	2504	c.1901G>A	c.(1900-1902)AGA>AAA	p.R634K	UBE3B_uc001toq.2_Missense_Mutation_p.R634K|UBE3B_uc001tos.2_Missense_Mutation_p.R61K|UBE3B_uc001too.1_RNA|UBE3B_uc009zvj.1_Missense_Mutation_p.R634K	NM_130466	NP_569733	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	634					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			ovary(2)|lung(2)	4						GACAGGGACAGAAAACGGGCA	0.483													10	23	---	---	---	---	PASS
C12orf65	91574	broad.mit.edu	37	12	123741366	123741366	+	Missense_Mutation	SNP	C	G	G			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:123741366C>G	uc001uen.2	+	3	555	c.289C>G	c.(289-291)CAG>GAG	p.Q97E	C12orf65_uc001ueo.2_RNA|C12orf65_uc010tan.1_Missense_Mutation_p.Q97E	NM_152269	NP_689482	Q9H3J6	CL065_HUMAN	hypothetical protein LOC91574	97						mitochondrion	translation release factor activity				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000595)|Epithelial(86;0.00199)		ACAGTGCCATCAGACAAGATC	0.234													24	25	---	---	---	---	PASS
TMEM132B	114795	broad.mit.edu	37	12	126128684	126128684	+	Silent	SNP	G	C	C			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:126128684G>C	uc001uhe.1	+	6	1493	c.1485G>C	c.(1483-1485)ACG>ACC	p.T495T	TMEM132B_uc001uhf.1_Silent_p.T7T	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	transmembrane protein 132B	495	Extracellular (Potential).					integral to membrane				skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AAGTGGACACGATTGTGAACT	0.502													21	42	---	---	---	---	PASS
CENPJ	55835	broad.mit.edu	37	13	25466857	25466857	+	Missense_Mutation	SNP	C	G	G			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:25466857C>G	uc001upt.3	-	10	3393	c.3140G>C	c.(3139-3141)AGA>ACA	p.R1047T	CENPJ_uc010tdf.1_RNA|CENPJ_uc010aae.2_RNA|CENPJ_uc010aaf.2_RNA|CENPJ_uc001upu.2_Missense_Mutation_p.R81T	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN	centromere protein J	1047					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			ovary(2)	2		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		CAGTCGGAATCTTTCCATCAC	0.512													29	50	---	---	---	---	PASS
CENPJ	55835	broad.mit.edu	37	13	25466876	25466876	+	Missense_Mutation	SNP	C	G	G			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:25466876C>G	uc001upt.3	-	10	3374	c.3121G>C	c.(3121-3123)GAA>CAA	p.E1041Q	CENPJ_uc010tdf.1_RNA|CENPJ_uc010aae.2_RNA|CENPJ_uc010aaf.2_RNA|CENPJ_uc001upu.2_Missense_Mutation_p.E75Q	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN	centromere protein J	1041					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			ovary(2)	2		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		ACTTTTATTTCTTCCCGGAGG	0.473													33	48	---	---	---	---	PASS
KL	9365	broad.mit.edu	37	13	33591349	33591349	+	Missense_Mutation	SNP	C	G	G			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:33591349C>G	uc001uus.2	+	1	779	c.771C>G	c.(769-771)ATC>ATG	p.I257M	KL_uc001uur.1_Intron	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	klotho precursor	257	Glycosyl hydrolase-1 1.|Extracellular (Potential).				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			large_intestine(1)|ovary(1)|skin(1)	3	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		CCCCCGGCATCCGGGGCAGCC	0.716													4	4	---	---	---	---	PASS
KBTBD6	89890	broad.mit.edu	37	13	41704624	41704624	+	Silent	SNP	C	T	T			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:41704624C>T	uc001uxu.1	-	1	2313	c.2024G>A	c.(2023-2025)TGA>TAA	p.*675*	KBTBD6_uc010ace.1_Intron|KBTBD6_uc010tfe.1_Silent_p.*609*|uc001uxv.1_5'Flank	NM_152903	NP_690867	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain-containing 6	675							protein binding			ovary(1)|skin(1)	2		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		CTGTGCATTTCACTGAGGCGC	0.388													6	14	---	---	---	---	PASS
PCDH8	5100	broad.mit.edu	37	13	53422512	53422512	+	Silent	SNP	G	T	T			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:53422512G>T	uc001vhi.2	-	1	263	c.60C>A	c.(58-60)CTC>CTA	p.L20L	PCDH8_uc001vhj.2_Silent_p.L20L	NM_002590	NP_002581	O95206	PCDH8_HUMAN	protocadherin 8 isoform 1 precursor	20					cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)	1		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		GCACCCAGCAGAGGCTGAAGA	0.622													17	26	---	---	---	---	PASS
TDRD3	81550	broad.mit.edu	37	13	61084796	61084796	+	Missense_Mutation	SNP	G	C	C			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:61084796G>C	uc001via.2	+	10	1557	c.769G>C	c.(769-771)GAA>CAA	p.E257Q	TDRD3_uc010aef.2_Missense_Mutation_p.E82Q|TDRD3_uc001vhz.3_Missense_Mutation_p.E257Q|TDRD3_uc010aeg.2_Missense_Mutation_p.E350Q|TDRD3_uc001vib.3_Missense_Mutation_p.E256Q	NM_030794	NP_110421	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3 isoform 2	257					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity			upper_aerodigestive_tract(1)|skin(1)	2		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		AATAAGATCTGAAGATGAAGA	0.368													13	17	---	---	---	---	PASS
KTN1	3895	broad.mit.edu	37	14	56096779	56096779	+	Silent	SNP	T	C	C			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:56096779T>C	uc001xcb.2	+	8	1487	c.1185T>C	c.(1183-1185)CAT>CAC	p.H395H	KTN1_uc001xce.2_Silent_p.H395H|KTN1_uc001xcc.2_Silent_p.H395H|KTN1_uc001xcd.2_Silent_p.H395H|KTN1_uc010trb.1_Silent_p.H395H|KTN1_uc001xcf.1_Silent_p.H395H	NM_182926	NP_891556	Q86UP2	KTN1_HUMAN	kinectin 1 isoform a	395	Lumenal (Potential).|Potential.				microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction				breast(3)|ovary(2)|lung(1)|central_nervous_system(1)	7						ACAAAATACATGTCAGTTATC	0.284			T	RET	papillary thryoid								24	38	---	---	---	---	PASS
ADAM6	8755	broad.mit.edu	37	14	106237582	106237582	+	RNA	SNP	C	T	T	rs2983776		TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:106237582C>T	uc010tyt.1	-	3611		c.57301G>A			uc001yrs.2_Intron|uc001yrt.2_Intron|uc001yrw.1_Intron|uc001yrx.1_Intron|uc001yrz.1_Intron|uc001yse.2_Intron|uc001ysf.2_Intron|uc001ysh.1_RNA|uc001ysi.1_RNA					Parts of antibodies, mostly variable regions.												0						GTAGGACAGCCGGGAAGGTGT	0.637													3	21	---	---	---	---	PASS
OTUD7A	161725	broad.mit.edu	37	15	31862290	31862290	+	Missense_Mutation	SNP	C	G	G			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:31862290C>G	uc001zfq.2	-	2	355	c.262G>C	c.(262-264)GAG>CAG	p.E88Q	OTUD7A_uc001zfr.2_Missense_Mutation_p.E88Q|OTUD7A_uc001zfs.1_RNA|OTUD7A_uc010baa.1_Missense_Mutation_p.E88Q	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	88						cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			pancreas(1)|skin(1)	2		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		GGCTCTCGCTCTGGCTGCTTG	0.637													15	9	---	---	---	---	PASS
SLTM	79811	broad.mit.edu	37	15	59224582	59224582	+	Missense_Mutation	SNP	G	C	C			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:59224582G>C	uc002afp.2	-	2	311	c.223C>G	c.(223-225)CCA>GCA	p.P75A	SLTM_uc002afo.2_Missense_Mutation_p.P75A|SLTM_uc002afq.2_5'UTR|SLTM_uc010bgd.2_Intron|SLTM_uc002afr.1_Missense_Mutation_p.P75A	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN	modulator of estrogen induced transcription	75					apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			ovary(1)	1						TTCTTGTTTGGAGTATCAGTT	0.343													50	70	---	---	---	---	PASS
VPS13C	54832	broad.mit.edu	37	15	62261510	62261510	+	Missense_Mutation	SNP	G	A	A			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:62261510G>A	uc002agz.2	-	28	2973	c.2899C>T	c.(2899-2901)CAT>TAT	p.H967Y	VPS13C_uc002aha.2_Missense_Mutation_p.H924Y|VPS13C_uc002ahb.1_Missense_Mutation_p.H967Y|VPS13C_uc002ahc.1_Missense_Mutation_p.H924Y	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	967					protein localization					ovary(2)	2						TCAATTTCATGATAATCCAAG	0.269													17	18	---	---	---	---	PASS
UBL7	84993	broad.mit.edu	37	15	74751086	74751086	+	Silent	SNP	T	A	A			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:74751086T>A	uc002axw.1	-	2	285	c.123A>T	c.(121-123)TCA>TCT	p.S41S	UBL7_uc002axx.1_Silent_p.S81S|UBL7_uc010bjr.1_Intron|UBL7_uc002axy.1_Silent_p.S41S|UBL7_uc002axz.1_Silent_p.S41S|uc002aya.2_5'Flank|uc002ayb.2_5'Flank	NM_032907	NP_116296	Q96S82	UBL7_HUMAN	ubiquitin-like 7	41	Ubiquitin-like.						protein binding			ovary(1)	1						GCTTCAGAAATGAAATACTAT	0.517													44	90	---	---	---	---	PASS
AKAP13	11214	broad.mit.edu	37	15	86253804	86253804	+	Intron	SNP	C	G	G			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:86253804C>G	uc002blv.1	+						AKAP13_uc002blu.1_Intron|AKAP13_uc010bnf.1_Intron|AKAP13_uc002blw.1_Intron|AKAP13_uc002blx.1_Intron	NM_007200	NP_009131	Q12802	AKP13_HUMAN	A-kinase anchor protein 13 isoform 2						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						CTTTCTTTCTCTTTAGCAGCC	0.433													10	14	---	---	---	---	PASS
ITFG3	83986	broad.mit.edu	37	16	312511	312511	+	Silent	SNP	G	A	A			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:312511G>A	uc002cgf.2	+	8	1125	c.930G>A	c.(928-930)GAG>GAA	p.E310E	ITFG3_uc010bqr.2_RNA|ITFG3_uc002cgg.2_Silent_p.E310E|ITFG3_uc010uud.1_RNA|ITFG3_uc002cgh.2_Silent_p.E310E	NM_032039	NP_114428	Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	310	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				CGCACTGGGAGAGCATGCTCA	0.632													11	30	---	---	---	---	PASS
E4F1	1877	broad.mit.edu	37	16	2282359	2282359	+	Missense_Mutation	SNP	C	G	G			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:2282359C>G	uc002cpm.2	+	4	651	c.603C>G	c.(601-603)TTC>TTG	p.F201L	E4F1_uc010bsi.2_Missense_Mutation_p.F201L|E4F1_uc010bsj.2_Missense_Mutation_p.F201L	NM_004424	NP_004415	Q66K89	E4F1_HUMAN	p120E4F	201	Mediates dimerization, DNA-binding, transcription repression of CCNA2 and interaction with HMGA2.|C2H2-type 1.				cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						ACAAGACCTTCAAGACGGTGA	0.687													2	8	---	---	---	---	PASS
AMDHD2	51005	broad.mit.edu	37	16	2577777	2577777	+	Missense_Mutation	SNP	T	C	C			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:2577777T>C	uc002cqq.2	+	5	516	c.419T>C	c.(418-420)CTG>CCG	p.L140P	AMDHD2_uc002cqp.2_Missense_Mutation_p.L140P|AMDHD2_uc010uwc.1_Missense_Mutation_p.L140P|AMDHD2_uc010uwd.1_5'UTR	NM_015944	NP_057028	Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2 isoform 1	140					N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity			skin(2)|large_intestine(1)|breast(1)	4						CTCCCAGGGCTGCACCTGGAG	0.711													3	5	---	---	---	---	PASS
AMDHD2	51005	broad.mit.edu	37	16	2577778	2577778	+	Silent	SNP	G	T	T			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:2577778G>T	uc002cqq.2	+	5	517	c.420G>T	c.(418-420)CTG>CTT	p.L140L	AMDHD2_uc002cqp.2_Silent_p.L140L|AMDHD2_uc010uwc.1_Silent_p.L140L|AMDHD2_uc010uwd.1_5'UTR	NM_015944	NP_057028	Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2 isoform 1	140					N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity			skin(2)|large_intestine(1)|breast(1)	4						TCCCAGGGCTGCACCTGGAGG	0.706													4	5	---	---	---	---	PASS
FAM86A	196483	broad.mit.edu	37	16	5143501	5143501	+	Missense_Mutation	SNP	G	A	A			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:5143501G>A	uc002cyo.2	-	3	273	c.224C>T	c.(223-225)TCA>TTA	p.S75L	FAM86A_uc002cyp.2_Missense_Mutation_p.S75L	NM_201400	NP_958802	Q96G04	FA86A_HUMAN	hypothetical protein LOC196483 isoform 1	75											0						GATGAGTTCTGAGAGAAAGCA	0.493													5	18	---	---	---	---	PASS
FAM86A	196483	broad.mit.edu	37	16	5143509	5143509	+	Nonsense_Mutation	SNP	G	T	T			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:5143509G>T	uc002cyo.2	-	3	265	c.216C>A	c.(214-216)TGC>TGA	p.C72*	FAM86A_uc002cyp.2_Nonsense_Mutation_p.C72*	NM_201400	NP_958802	Q96G04	FA86A_HUMAN	hypothetical protein LOC196483 isoform 1	72											0						CTGAGAGAAAGCACCGGGCAT	0.512													5	17	---	---	---	---	PASS
NOMO2	283820	broad.mit.edu	37	16	18549903	18549903	+	Missense_Mutation	SNP	C	A	A			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:18549903C>A	uc002dfe.2	-	11	1237	c.1165G>T	c.(1165-1167)GTC>TTC	p.V389F	NOMO2_uc002dff.2_Missense_Mutation_p.V389F|NOMO2_uc010bvx.2_Missense_Mutation_p.V222F	NM_001004060	NP_001004060	Q5JPE7	NOMO2_HUMAN	nodal modulator 2 isoform 1	389	Lumenal (Potential).					endoplasmic reticulum membrane|integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			skin(1)	1						TTGATGGTGACCGTTTCAAAG	0.458													34	52	---	---	---	---	PASS
NOMO2	283820	broad.mit.edu	37	16	18549904	18549904	+	Silent	SNP	C	A	A			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:18549904C>A	uc002dfe.2	-	11	1236	c.1164G>T	c.(1162-1164)ACG>ACT	p.T388T	NOMO2_uc002dff.2_Silent_p.T388T|NOMO2_uc010bvx.2_Silent_p.T221T	NM_001004060	NP_001004060	Q5JPE7	NOMO2_HUMAN	nodal modulator 2 isoform 1	388	Lumenal (Potential).					endoplasmic reticulum membrane|integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			skin(1)	1						TGATGGTGACCGTTTCAAAGT	0.453													33	52	---	---	---	---	PASS
ACSM3	6296	broad.mit.edu	37	16	20807807	20807807	+	Missense_Mutation	SNP	G	A	A			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:20807807G>A	uc002dhr.2	+	13	1857	c.1670G>A	c.(1669-1671)AGA>AAA	p.R557K	ERI2_uc002dht.3_3'UTR|ACSM3_uc010vba.1_Missense_Mutation_p.R586K|ERI2_uc002dhs.2_Intron|ERI2_uc010vbb.1_3'UTR|ERI2_uc010bwh.2_3'UTR|ERI2_uc010vbc.1_3'UTR|ERI2_uc002dhu.1_3'UTR	NM_005622	NP_005613	Q53FZ2	ACSM3_HUMAN	SA hypertension-associated homolog isoform 1	557					regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			ovary(1)	1						AAATATCCCAGAAAGGTAGGC	0.323													21	40	---	---	---	---	PASS
RNF40	9810	broad.mit.edu	37	16	30777492	30777492	+	Missense_Mutation	SNP	G	A	A			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30777492G>A	uc002dzq.2	+	9	1125	c.1002G>A	c.(1000-1002)ATG>ATA	p.M334I	RNF40_uc010caa.2_Missense_Mutation_p.M334I|RNF40_uc010cab.2_Intron|RNF40_uc010vfa.1_Intron|RNF40_uc002dzr.2_Missense_Mutation_p.M334I|RNF40_uc010vfb.1_Intron|RNF40_uc010vfc.1_5'Flank	NM_014771	NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40	334	Potential.				histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)	1			Colorectal(24;0.198)			AGTTTGAGATGCTGAATGCAG	0.592													25	44	---	---	---	---	PASS
GNAO1	2775	broad.mit.edu	37	16	56377672	56377672	+	Intron	SNP	C	T	T			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:56377672C>T	uc002eit.3	+						GNAO1_uc002eiu.3_Intron	NM_138736	NP_620073	P09471	GNAO_HUMAN	guanine nucleotide binding protein, alpha						dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			lung(1)|breast(1)	2		all_neural(199;0.159)				GTTTGCTCTGCAGGCCCCAGC	0.622													4	8	---	---	---	---	PASS
BBS2	583	broad.mit.edu	37	16	56548503	56548503	+	Silent	SNP	G	C	C			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:56548503G>C	uc002ejd.2	-	2	441	c.207C>G	c.(205-207)CTC>CTG	p.L69L	BBS2_uc010ccg.2_Silent_p.L69L	NM_031885	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2 protein	69					adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding			ovary(1)	1						GGTTAATGCTGAGAAGAGAAA	0.468									Bardet-Biedl_syndrome				13	37	---	---	---	---	PASS
ATMIN	23300	broad.mit.edu	37	16	81078461	81078461	+	Silent	SNP	G	A	A			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:81078461G>A	uc002ffz.1	+	4	2376	c.2358G>A	c.(2356-2358)CAG>CAA	p.Q786Q	ATMIN_uc002fga.2_Silent_p.Q628Q|ATMIN_uc010vnn.1_Silent_p.Q557Q|ATMIN_uc002fgb.1_Silent_p.Q628Q	NM_015251	NP_056066	O43313	ATMIN_HUMAN	ATM interactor	786					response to DNA damage stimulus	nucleus	zinc ion binding				0						ACGAAACTCAGACAGCAATGG	0.483													16	31	---	---	---	---	PASS
KIAA0182	23199	broad.mit.edu	37	16	85699825	85699825	+	Missense_Mutation	SNP	C	T	T			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:85699825C>T	uc002fix.2	+	13	3076	c.3002C>T	c.(3001-3003)CCT>CTT	p.P1001L	KIAA0182_uc002fiw.2_Missense_Mutation_p.P897L|KIAA0182_uc002fiy.2_Missense_Mutation_p.P928L|KIAA0182_uc002fiz.2_Missense_Mutation_p.P143L|KIAA0182_uc010cho.2_Missense_Mutation_p.P181L	NM_014615	NP_055430	Q14687	GSE1_HUMAN	genetic suppressor element 1 isoform 1	1001							protein binding			large_intestine(3)|ovary(1)|skin(1)	5						AAGGACATTCCTGTGCCGCTG	0.602													6	10	---	---	---	---	PASS
ANKRD11	29123	broad.mit.edu	37	16	89348930	89348930	+	Silent	SNP	G	C	C			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:89348930G>C	uc002fmx.1	-	9	4481	c.4020C>G	c.(4018-4020)CTC>CTG	p.L1340L	ANKRD11_uc002fmy.1_Silent_p.L1340L|ANKRD11_uc002fnc.1_Silent_p.L1340L|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Silent_p.L1297L	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1340	Lys-rich.					nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GCTTCTCAGGGAGGCAGGCGC	0.602													7	44	---	---	---	---	PASS
FANCA	2175	broad.mit.edu	37	16	89813023	89813023	+	Missense_Mutation	SNP	G	A	A	rs142833057	by1000genomes	TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:89813023G>A	uc002fou.1	-	35	3524	c.3482C>T	c.(3481-3483)ACG>ATG	p.T1161M	FANCA_uc010vpn.1_Missense_Mutation_p.T1161M|FANCA_uc010vpo.1_Missense_Mutation_p.T247M	NM_000135	NP_000126	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A isoform	1161					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		GGGGCATTTCGTCTGGCACTT	0.567			D|Mis|N|F|S			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				21	19	---	---	---	---	PASS
VPS53	55275	broad.mit.edu	37	17	526854	526854	+	Silent	SNP	A	C	C			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:526854A>C	uc002frn.2	-	11	1182	c.1035T>G	c.(1033-1035)CTT>CTG	p.L345L	VPS53_uc002frk.2_5'UTR|VPS53_uc010cjo.1_Silent_p.L345L|VPS53_uc002frl.2_RNA|VPS53_uc002frm.2_Silent_p.L316L|VPS53_uc002fro.2_Silent_p.L147L|VPS53_uc010cjp.1_Intron	NM_018289	NP_060759	Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 isoform 2	345					protein transport	endosome membrane|Golgi apparatus					0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		GAATAGCAAAAAGAAGCAATT	0.438													6	59	---	---	---	---	PASS
PRPF8	10594	broad.mit.edu	37	17	1582619	1582619	+	Missense_Mutation	SNP	G	C	C			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:1582619G>C	uc002fte.2	-	10	1489	c.1375C>G	c.(1375-1377)CTG>GTG	p.L459V		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	U5 snRNP-specific protein	459						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			lung(4)|ovary(2)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		CGATGCTTCAGGGCATTCAGC	0.537													32	42	---	---	---	---	PASS
TP53	7157	broad.mit.edu	37	17	7578461	7578461	+	Missense_Mutation	SNP	C	A	A	rs121912654		TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7578461C>A	uc002gim.2	-	5	663	c.469G>T	c.(469-471)GTC>TTC	p.V157F	TP53_uc002gig.1_Missense_Mutation_p.V157F|TP53_uc002gih.2_Missense_Mutation_p.V157F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.V25F|TP53_uc010cng.1_Missense_Mutation_p.V25F|TP53_uc002gii.1_Missense_Mutation_p.V25F|TP53_uc010cnh.1_Missense_Mutation_p.V157F|TP53_uc010cni.1_Missense_Mutation_p.V157F|TP53_uc002gij.2_Missense_Mutation_p.V157F|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.V64F|TP53_uc002gio.2_Missense_Mutation_p.V25F|TP53_uc010vug.1_Missense_Mutation_p.V118F	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	157	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		V -> I (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> A (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V157F(139)|p.V157I(10)|p.V157D(8)|p.V157G(7)|p.0?(7)|p.V157L(6)|p.V157V(5)|p.V157fs*13(3)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.V157fs*22(2)|p.V157fs*24(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.V157A(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.D148fs*23(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*23(1)|p.V157fs*21(1)|p.V157fs*25(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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)		ATGGCGCGGACGCGGGTGCCG	0.617		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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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	8	---	---	---	---	PASS
MYH4	4622	broad.mit.edu	37	17	10357999	10357999	+	Missense_Mutation	SNP	T	A	A			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:10357999T>A	uc002gmn.2	-	22	2675	c.2564A>T	c.(2563-2565)AAC>ATC	p.N855I	uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	855	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(10)|skin(2)|central_nervous_system(1)	13						TTCCTTCATGTTGGCCATCTC	0.443													7	80	---	---	---	---	PASS
FOXN1	8456	broad.mit.edu	37	17	26861727	26861727	+	Missense_Mutation	SNP	G	A	A			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:26861727G>A	uc010crm.2	+	8	1336	c.1138G>A	c.(1138-1140)GAG>AAG	p.E380K	FOXN1_uc002hbj.2_Missense_Mutation_p.E380K	NM_003593	NP_003584	O15353	FOXN1_HUMAN	forkhead box N1	380					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			skin(1)	1	Lung NSC(42;0.00431)					CCTTTCAGAAGAGCTGGACAG	0.607													3	12	---	---	---	---	PASS
SLFN12	55106	broad.mit.edu	37	17	33749256	33749256	+	Silent	SNP	G	A	A			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:33749256G>A	uc002hji.3	-	2	1169	c.792C>T	c.(790-792)ATC>ATT	p.I264I	SLFN12_uc002hjj.3_Silent_p.I264I|SLFN12_uc010cts.2_Silent_p.I264I	NM_018042	NP_060512	Q8IYM2	SLN12_HUMAN	schlafen family member 12	264							ATP binding			skin(1)	1		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGGACTTTTCGATTTCTCTTT	0.343													24	83	---	---	---	---	PASS
CDK12	51755	broad.mit.edu	37	17	37627431	37627431	+	Missense_Mutation	SNP	G	C	C			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:37627431G>C	uc010cvv.2	+	2	1932	c.1346G>C	c.(1345-1347)AGA>ACA	p.R449T	CDK12_uc010wef.1_Missense_Mutation_p.R448T|CDK12_uc002hrw.3_Missense_Mutation_p.R449T	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Cdc2-related kinase, arginine/serine-rich	449					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1)	19						AAGTTACCCAGAAGTGTAAAA	0.388										TCGA Ovarian(9;0.13)			20	54	---	---	---	---	PASS
CDK12	51755	broad.mit.edu	37	17	37627496	37627496	+	Missense_Mutation	SNP	G	C	C			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:37627496G>C	uc010cvv.2	+	2	1997	c.1411G>C	c.(1411-1413)GAG>CAG	p.E471Q	CDK12_uc010wef.1_Missense_Mutation_p.E470Q|CDK12_uc002hrw.3_Missense_Mutation_p.E471Q	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Cdc2-related kinase, arginine/serine-rich	471					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1)	19						TCTAAACACAGAGGTAAAAAA	0.373										TCGA Ovarian(9;0.13)			27	75	---	---	---	---	PASS
EME1	146956	broad.mit.edu	37	17	48456522	48456522	+	Silent	SNP	G	A	A			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:48456522G>A	uc002iqs.1	+	6	1240	c.1167G>A	c.(1165-1167)AAG>AAA	p.K389K	EME1_uc010dbp.1_Silent_p.K402K|EME1_uc010dbq.1_5'Flank	NM_152463	NP_689676	Q96AY2	EME1_HUMAN	essential meiotic endonuclease 1 homolog 1	389					DNA recombination|DNA repair	nucleolus	DNA binding|endonuclease activity|metal ion binding|protein binding				0	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			AGACCAAGAAGCAGCAGCAGA	0.527								Direct_reversal_of_damage|Homologous_recombination					21	30	---	---	---	---	PASS
CACNA1G	8913	broad.mit.edu	37	17	48674006	48674006	+	Silent	SNP	C	T	T			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:48674006C>T	uc002irk.1	+	15	3435	c.3063C>T	c.(3061-3063)GCC>GCT	p.A1021A	CACNA1G_uc002iri.1_Silent_p.A1021A|CACNA1G_uc002irj.1_Silent_p.A998A|CACNA1G_uc002irl.1_Silent_p.A998A|CACNA1G_uc002irm.1_Silent_p.A998A|CACNA1G_uc002irn.1_Silent_p.A998A|CACNA1G_uc002iro.1_Silent_p.A998A|CACNA1G_uc002irp.1_Silent_p.A1021A|CACNA1G_uc002irq.1_Silent_p.A998A|CACNA1G_uc002irr.1_Silent_p.A1021A|CACNA1G_uc002irs.1_Silent_p.A1021A|CACNA1G_uc002irt.1_Silent_p.A1021A|CACNA1G_uc002irv.1_Silent_p.A1021A|CACNA1G_uc002irw.1_Silent_p.A998A|CACNA1G_uc002iru.1_Silent_p.A998A|CACNA1G_uc002irx.1_Silent_p.A934A|CACNA1G_uc002iry.1_Silent_p.A934A|CACNA1G_uc002irz.1_Silent_p.A934A|CACNA1G_uc002isa.1_Silent_p.A934A|CACNA1G_uc002isb.1_Silent_p.A934A|CACNA1G_uc002isc.1_Silent_p.A934A|CACNA1G_uc002isd.1_Silent_p.A934A|CACNA1G_uc002ise.1_Silent_p.A934A|CACNA1G_uc002isf.1_Silent_p.A934A|CACNA1G_uc002isg.1_Silent_p.A934A|CACNA1G_uc002ish.1_Silent_p.A934A|CACNA1G_uc002isi.1_Silent_p.A911A|CACNA1G_uc002isj.2_5'Flank	NM_018896	NP_061496	O43497	CAC1G_HUMAN	voltage-dependent calcium channel alpha 1G	1021	Cytoplasmic (Potential).				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(1)	1	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	AGTGCTTGGCCTGTGAGTACC	0.607													11	15	---	---	---	---	PASS
NACA2	342538	broad.mit.edu	37	17	59668329	59668329	+	Silent	SNP	C	G	G			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:59668329C>G	uc002izj.2	-	1	239	c.213G>C	c.(211-213)CGG>CGC	p.R71R		NM_199290	NP_954984	Q9H009	NACA2_HUMAN	nascent-polypeptide-associated complex alpha	71	NAC-A/B.				protein transport	cytoplasm|nucleus				ovary(1)	1	all_epithelial(1;3.12e-14)					TCTTTTCACTCCGACTCTGTT	0.463													75	128	---	---	---	---	PASS
CACNG5	27091	broad.mit.edu	37	17	64876810	64876810	+	Silent	SNP	C	A	A			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:64876810C>A	uc010wqi.1	+	4	657	c.420C>A	c.(418-420)CTC>CTA	p.L140L	CACNG5_uc002jfr.2_Silent_p.L140L|CACNG5_uc010wqj.1_Silent_p.L140L	NM_145811	NP_665810	Q9UF02	CCG5_HUMAN	voltage-dependent calcium channel gamma-5	140	Helical; (Potential).				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			pancreas(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			TCTTTATCCTCTCAGGTAAGT	0.328													45	83	---	---	---	---	PASS
ABCA10	10349	broad.mit.edu	37	17	67160274	67160274	+	Missense_Mutation	SNP	C	A	A			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:67160274C>A	uc010dfa.1	-	28	4183	c.3304G>T	c.(3304-3306)GAC>TAC	p.D1102Y	ABCA10_uc010wqs.1_Missense_Mutation_p.D94Y|ABCA10_uc010wqt.1_RNA	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A, member 10	1102					transport	integral to membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;6.95e-12)					TCCAGACTGTCCAAGTTTCTC	0.279													4	33	---	---	---	---	PASS
MYOM1	8736	broad.mit.edu	37	18	3116506	3116506	+	Silent	SNP	C	T	T			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:3116506C>T	uc002klp.2	-	21	3460	c.3126G>A	c.(3124-3126)CCG>CCA	p.P1042P	MYOM1_uc002klq.2_Silent_p.P946P	NM_003803	NP_003794	P52179	MYOM1_HUMAN	myomesin 1 isoform a	1042	Fibronectin type-III 5.					striated muscle myosin thick filament	structural constituent of muscle			ovary(3)|central_nervous_system(1)|pancreas(1)	5						TGAGACTGTGCGGTGGTCCTG	0.498													6	16	---	---	---	---	PASS
PSMA8	143471	broad.mit.edu	37	18	23759082	23759082	+	Silent	SNP	T	C	C			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:23759082T>C	uc002kvq.2	+	6	780	c.666T>C	c.(664-666)AAT>AAC	p.N222N	PSMA8_uc002kvo.2_Silent_p.N178N|PSMA8_uc002kvp.2_Silent_p.N216N|PSMA8_uc002kvr.2_Silent_p.N190N	NM_144662	NP_653263	Q8TAA3	PSA7L_HUMAN	proteasome alpha 8 subunit isoform 1	222					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	threonine-type endopeptidase activity			skin(1)	1	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)			TAAGAAGAAATCAACCTTTGA	0.318													60	12	---	---	---	---	PASS
DSG1	1828	broad.mit.edu	37	18	28914040	28914040	+	Missense_Mutation	SNP	G	C	C			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:28914040G>C	uc002kwp.2	+	8	1092	c.880G>C	c.(880-882)GAT>CAT	p.D294H		NM_001942	NP_001933	Q02413	DSG1_HUMAN	desmoglein 1 preproprotein	294	Extracellular (Potential).|Cadherin 3.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			skin(3)|ovary(2)|central_nervous_system(2)	7			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TAGAGTAATTGATTTGGATGA	0.318													11	93	---	---	---	---	PASS
TNFRSF11A	8792	broad.mit.edu	37	18	60025476	60025476	+	Intron	SNP	C	G	G			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:60025476C>G	uc002lin.2	+						TNFRSF11A_uc010dpv.2_Intron	NM_003839	NP_003830	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily,						adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity			breast(2)|lung(1)	3		Colorectal(73;0.188)				TTTTTTTTCTCACAGTGCAGC	0.478									Paget_Disease_of_Bone				37	7	---	---	---	---	PASS
RTTN	25914	broad.mit.edu	37	18	67684885	67684885	+	Missense_Mutation	SNP	G	C	C			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:67684885G>C	uc002lkp.2	-	46	6247	c.6179C>G	c.(6178-6180)TCT>TGT	p.S2060C	RTTN_uc002lko.2_Intron|RTTN_uc010xfb.1_Missense_Mutation_p.S1148C|RTTN_uc002lkn.2_Missense_Mutation_p.S50C|RTTN_uc010dqp.2_Missense_Mutation_p.S312C	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	2060							binding			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8		Esophageal squamous(42;0.129)				CAATGCTAGAGAGAGGAAGTT	0.343													46	11	---	---	---	---	PASS
ATP9B	374868	broad.mit.edu	37	18	76936877	76936877	+	Silent	SNP	G	C	C			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:76936877G>C	uc002lmx.2	+	8	857	c.843G>C	c.(841-843)GTG>GTC	p.V281V	ATP9B_uc002lmv.1_Intron|ATP9B_uc002lmw.1_Silent_p.V281V|ATP9B_uc002lmy.1_Intron|ATP9B_uc002lmz.1_5'UTR	NM_198531	NP_940933	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	281	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(3)	3		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		AGGTGGCAGTGAGCTGCACGC	0.448													40	8	---	---	---	---	PASS
NFATC1	4772	broad.mit.edu	37	18	77170998	77170998	+	Silent	SNP	G	T	T	rs61731548	byFrequency	TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:77170998G>T	uc010xfg.1	+	2	1176	c.723G>T	c.(721-723)TCG>TCT	p.S241S	NFATC1_uc002lnc.1_Silent_p.S241S|NFATC1_uc010xff.1_Silent_p.S241S|NFATC1_uc002lnd.2_Silent_p.S241S|NFATC1_uc002lne.2_Intron|NFATC1_uc010xfh.1_Silent_p.S241S|NFATC1_uc010xfi.1_Silent_p.S228S|NFATC1_uc010xfj.1_Intron|NFATC1_uc002lnf.2_Silent_p.S228S|NFATC1_uc002lng.2_Silent_p.S228S|NFATC1_uc010xfk.1_Silent_p.S228S	NM_006162	NP_006153	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytosolic	241	3 X SP repeats.|2.				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			large_intestine(1)|ovary(1)	2		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		CCTCCACCTCGCCCCGCGCCA	0.711													6	21	---	---	---	---	PASS
NFATC1	4772	broad.mit.edu	37	18	77170999	77170999	+	Missense_Mutation	SNP	C	T	T			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:77170999C>T	uc010xfg.1	+	2	1177	c.724C>T	c.(724-726)CCC>TCC	p.P242S	NFATC1_uc002lnc.1_Missense_Mutation_p.P242S|NFATC1_uc010xff.1_Missense_Mutation_p.P242S|NFATC1_uc002lnd.2_Missense_Mutation_p.P242S|NFATC1_uc002lne.2_Intron|NFATC1_uc010xfh.1_Missense_Mutation_p.P242S|NFATC1_uc010xfi.1_Missense_Mutation_p.P229S|NFATC1_uc010xfj.1_Intron|NFATC1_uc002lnf.2_Missense_Mutation_p.P229S|NFATC1_uc002lng.2_Missense_Mutation_p.P229S|NFATC1_uc010xfk.1_Missense_Mutation_p.P229S	NM_006162	NP_006153	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytosolic	242	3 X SP repeats.|2.				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			large_intestine(1)|ovary(1)	2		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		CTCCACCTCGCCCCGCGCCAG	0.711													6	20	---	---	---	---	PASS
CIRBP	1153	broad.mit.edu	37	19	1271175	1271175	+	Missense_Mutation	SNP	G	T	T			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:1271175G>T	uc002lrr.3	+	3	289	c.140G>T	c.(139-141)CGG>CTG	p.R47L	C19orf23_uc010xgk.1_5'Flank|CIRBP_uc010dsg.1_Missense_Mutation_p.R36L|CIRBP_uc002lrt.2_Missense_Mutation_p.R47L|CIRBP_uc010xgl.1_Missense_Mutation_p.R47L|CIRBP_uc002lrv.3_Missense_Mutation_p.R47L|CIRBP_uc002lru.2_RNA	NM_001280	NP_001271	Q14011	CIRBP_HUMAN	cold inducible RNA binding protein	47	RRM.				mRNA stabilization|positive regulation of translation|response to cold|response to UV|stress granule assembly	nucleoplasm|stress granule	mRNA 3'-UTR binding|nucleotide binding|protein binding|SSU rRNA binding|translation repressor activity				0		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000332)|all_lung(49;0.000498)|Breast(49;0.0014)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGAGATCTCGGGGATTTGGG	0.552													16	24	---	---	---	---	PASS
ZNF57	126295	broad.mit.edu	37	19	2917970	2917970	+	Missense_Mutation	SNP	G	C	C			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:2917970G>C	uc002lwr.2	+	4	1499	c.1351G>C	c.(1351-1353)GAA>CAA	p.E451Q	ZNF57_uc010xha.1_Missense_Mutation_p.E419Q	NM_173480	NP_775751	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	451	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3				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)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		CCATAAATGTGAACACTGTGG	0.433													34	64	---	---	---	---	PASS
HDGFRP2	84717	broad.mit.edu	37	19	4499548	4499548	+	Missense_Mutation	SNP	C	T	T			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:4499548C>T	uc002mao.2	+	14	1729	c.1636C>T	c.(1636-1638)CTC>TTC	p.L546F	HDGFRP2_uc002map.2_Missense_Mutation_p.L546F|HDGFRP2_uc010dtz.1_RNA|HDGFRP2_uc010dua.2_Missense_Mutation_p.L11F|HDGFRP2_uc002maq.1_Missense_Mutation_p.L11F	NM_001001520	NP_001001520	Q7Z4V5	HDGR2_HUMAN	hepatoma-derived growth factor-related protein 2	546	Potential.				transcription, DNA-dependent	nucleus	DNA binding|protein binding				0						CTATACCCGGCTCAAGTCGCG	0.368													7	7	---	---	---	---	PASS
MUC16	94025	broad.mit.edu	37	19	9067241	9067241	+	Silent	SNP	G	A	A			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9067241G>A	uc002mkp.2	-	3	20409	c.20205C>T	c.(20203-20205)ATC>ATT	p.I6735I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	6737	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TTCGAGTGATGATGGTCATAT	0.512													73	88	---	---	---	---	PASS
LDLR	3949	broad.mit.edu	37	19	11238705	11238705	+	Missense_Mutation	SNP	G	A	A			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:11238705G>A	uc002mqk.3	+	16	2501	c.2333G>A	c.(2332-2334)AGA>AAA	p.R778K	LDLR_uc010xlk.1_Missense_Mutation_p.R778K|LDLR_uc010xll.1_Missense_Mutation_p.R737K|LDLR_uc010xlm.1_Missense_Mutation_p.R631K|LDLR_uc010xln.1_Missense_Mutation_p.R600K|LDLR_uc010xlo.1_Missense_Mutation_p.R610K|LDLR_uc010dxu.2_5'UTR	NM_000527	NP_000518	P01130	LDLR_HUMAN	low density lipoprotein receptor precursor	778	Extracellular (Potential).				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity			ovary(2)|skin(2)	4		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	GTTGCTGGCAGAGGAAATGAG	0.617													32	46	---	---	---	---	PASS
OR10H3	26532	broad.mit.edu	37	19	15852340	15852340	+	Silent	SNP	C	T	T			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:15852340C>T	uc010xoq.1	+	1	138	c.138C>T	c.(136-138)ATC>ATT	p.I46I		NM_013938	NP_039226	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H,	46	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						ACCTTCTTATCATGGCCACAG	0.522													103	150	---	---	---	---	PASS
UPF1	5976	broad.mit.edu	37	19	18965427	18965427	+	Missense_Mutation	SNP	G	A	A			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:18965427G>A	uc002nkg.2	+	9	1482	c.1207G>A	c.(1207-1209)GCC>ACC	p.A403T	UPF1_uc002nkf.2_Missense_Mutation_p.A392T	NM_002911	NP_002902	Q92900	RENT1_HUMAN	regulator of nonsense transcripts 1	403	Sufficient for interaction with RENT2.				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|protein binding|RNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2						CGATGAGATCGCCATTGAGCT	0.522													98	141	---	---	---	---	PASS
NUDT19	390916	broad.mit.edu	37	19	33200258	33200258	+	Missense_Mutation	SNP	C	G	G			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:33200258C>G	uc010edf.2	+	2	882	c.882C>G	c.(880-882)ATC>ATG	p.I294M		NM_001105570	NP_001099040	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety	294						mitochondrion|peroxisome	hydrolase activity|metal ion binding				0	Esophageal squamous(110;0.137)					GGCTGCCGATCATCTTGTTAA	0.458													29	94	---	---	---	---	PASS
CHST8	64377	broad.mit.edu	37	19	34263812	34263812	+	Missense_Mutation	SNP	C	G	G			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:34263812C>G	uc002nus.3	+	5	1624	c.1119C>G	c.(1117-1119)TTC>TTG	p.F373L	CHST8_uc002nut.3_Missense_Mutation_p.F373L|CHST8_uc002nuu.2_Missense_Mutation_p.F373L	NM_001127895	NP_001121367	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0)	373	Lumenal (Potential).				carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			skin(2)|large_intestine(1)|ovary(1)	4	Esophageal squamous(110;0.162)					TCCCCCGGTTCAAGGACCGGC	0.622													24	15	---	---	---	---	PASS
PRKD2	25865	broad.mit.edu	37	19	47219577	47219577	+	Silent	SNP	C	A	A			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:47219577C>A	uc002pfh.2	-	2	393	c.51G>T	c.(49-51)CCG>CCT	p.P17P	PRKD2_uc002pfg.2_5'Flank|PRKD2_uc002pfi.2_Silent_p.P17P|PRKD2_uc002pfj.2_Silent_p.P17P|PRKD2_uc010xye.1_Silent_p.P17P|PRKD2_uc002pfk.2_Intron	NM_001079881	NP_001073350	Q9BZL6	KPCD2_HUMAN	protein kinase D2 isoform A	17					cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			ovary(2)|central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)	7		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		GAGGAGACCCCGGCCCGGGAG	0.726													8	14	---	---	---	---	PASS
JOSD2	126119	broad.mit.edu	37	19	51013560	51013560	+	Silent	SNP	G	A	A			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:51013560G>A	uc002psn.1	-	2	160	c.129C>T	c.(127-129)GCC>GCT	p.A43A	JOSD2_uc002pso.1_Silent_p.A43A|JOSD2_uc002psp.1_Silent_p.A43A|JOSD2_uc002psq.1_Silent_p.A43A	NM_138334	NP_612207	Q8TAC2	JOS2_HUMAN	Josephin domain containing 2	43	Josephin.				protein deubiquitination		ubiquitin-specific protease activity				0		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0364)		AGATCTCATCGGCAGCCTCCT	0.662													27	29	---	---	---	---	PASS
CEACAM18	729767	broad.mit.edu	37	19	51984640	51984640	+	Intron	SNP	C	T	T			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:51984640C>T	uc002pwv.1	+							NM_001080405	NP_001073874	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion							integral to membrane				skin(1)	1		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TTTCCTGCTTCACCCAGAGTT	0.527													11	20	---	---	---	---	PASS
SIGLEC6	946	broad.mit.edu	37	19	52034597	52034597	+	Missense_Mutation	SNP	C	G	G			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:52034597C>G	uc002pwy.2	-	2	406	c.244G>C	c.(244-246)GAC>CAC	p.D82H	SIGLEC6_uc002pwz.2_Missense_Mutation_p.D82H|SIGLEC6_uc002pxa.2_Missense_Mutation_p.D82H|SIGLEC6_uc010ydb.1_Missense_Mutation_p.D35H|SIGLEC6_uc010ydc.1_Missense_Mutation_p.D71H|SIGLEC6_uc010eoz.1_Missense_Mutation_p.D71H|SIGLEC6_uc010epb.1_Missense_Mutation_p.D35H|SIGLEC6_uc010epa.1_Missense_Mutation_p.D71H	NM_001245	NP_001236	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6 isoform 1	82	Extracellular (Potential).|Ig-like V-type.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				ovary(1)	1		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		ACTTCTTCGTCTGGGTCGTTT	0.587													24	44	---	---	---	---	PASS
ZNF613	79898	broad.mit.edu	37	19	52448967	52448967	+	Missense_Mutation	SNP	G	A	A			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:52448967G>A	uc002pxz.1	+	6	2254	c.1831G>A	c.(1831-1833)GAT>AAT	p.D611N	ZNF613_uc002pya.1_Missense_Mutation_p.D575N	NM_001031721	NP_001026891	Q6PF04	ZN613_HUMAN	zinc finger protein 613 isoform 1	611					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		AGTCTCAGCAGATAGTAGAAT	0.418													12	19	---	---	---	---	PASS
MYADM	91663	broad.mit.edu	37	19	54377415	54377415	+	Missense_Mutation	SNP	C	T	T			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54377415C>T	uc002qcl.2	+	3	780	c.632C>T	c.(631-633)GCC>GTC	p.A211V	MYADM_uc002qcm.2_Missense_Mutation_p.A211V|MYADM_uc002qcn.2_Missense_Mutation_p.A211V|MYADM_uc002qco.2_Missense_Mutation_p.A211V|MYADM_uc002qcp.2_Missense_Mutation_p.A211V	NM_001020820	NP_001018656	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	211	MARVEL 2.|Helical; (Potential).					integral to membrane				ovary(1)	1	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		GCGGTGTACGCCATCTGCTTC	0.637													25	84	---	---	---	---	PASS
ZNF606	80095	broad.mit.edu	37	19	58489707	58489707	+	Nonsense_Mutation	SNP	G	A	A			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58489707G>A	uc002qqw.2	-	7	2959	c.2341C>T	c.(2341-2343)CAA>TAA	p.Q781*	ZNF606_uc010yhp.1_Nonsense_Mutation_p.Q691*	NM_025027	NP_079303	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	781	C2H2-type 16.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		CTCTGGTGTTGAAGTAGGGCT	0.373													49	68	---	---	---	---	PASS
PDYN	5173	broad.mit.edu	37	20	1961091	1961091	+	Missense_Mutation	SNP	G	A	A			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:1961091G>A	uc010gaj.2	-	3	885	c.643C>T	c.(643-645)CGT>TGT	p.R215C	uc002wfu.1_Intron|PDYN_uc002wfv.2_Missense_Mutation_p.R215C|PDYN_uc010zpt.1_Missense_Mutation_p.R60C	NM_024411	NP_077722	P01213	PDYN_HUMAN	beta-neoendorphin-dynorphin preproprotein	215			R -> C (in SCA23; the mutant PDYN protein is produced, but processing to opioid peptides is dramatically affected, resulting in an approximately 2-fold decreased level of dynorphin B compared to dynorphin A; mutant dynorphin A is neurotoxic to cultured striatal neurons, suggesting a dominant-negative effect).		cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity			upper_aerodigestive_tract(1)|ovary(1)	2						AGCTTGGGACGAATGCGCCGC	0.587													66	52	---	---	---	---	PASS
ATP9A	10079	broad.mit.edu	37	20	50342415	50342415	+	Silent	SNP	G	A	A			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:50342415G>A	uc002xwg.1	-	3	270	c.270C>T	c.(268-270)TGC>TGT	p.C90C	ATP9A_uc010gih.1_Silent_p.C75C	NM_006045	NP_006036	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	90	Helical; (Potential).				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			ovary(4)	4						CAAACTGAGAGCAGGCAAGAA	0.438													8	19	---	---	---	---	PASS
PCK1	5105	broad.mit.edu	37	20	56140109	56140109	+	Silent	SNP	C	A	A			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:56140109C>A	uc002xyn.3	+	9	1495	c.1332C>A	c.(1330-1332)GTC>GTA	p.V444V	PCK1_uc010zzm.1_Silent_p.V127V	NM_002591	NP_002582	P35558	PCKGC_HUMAN	cytosolic phosphoenolpyruvate carboxykinase 1	444					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			skin(1)	1	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)			TCCCTCTAGTCTATGAAGCTC	0.458													17	34	---	---	---	---	PASS
RPS21	6227	broad.mit.edu	37	20	60963410	60963410	+	Missense_Mutation	SNP	A	T	T			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:60963410A>T	uc002ycr.2	+	5	322	c.232A>T	c.(232-234)ATC>TTC	p.I78F	RPS21_uc002ycs.2_Missense_Mutation_p.I78F|RPS21_uc002yct.2_3'UTR|RPS21_uc002ycu.2_Missense_Mutation_p.I78F	NM_001024	NP_001015	P63220	RS21_HUMAN	ribosomal protein S21	78					endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein N-terminus binding|structural constituent of ribosome				0	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GGCCGATGGCATCGTCTCAAA	0.488													7	9	---	---	---	---	PASS
CABLES2	81928	broad.mit.edu	37	20	60969315	60969315	+	Silent	SNP	C	T	T			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:60969315C>T	uc002ycv.2	-	5	619	c.612G>A	c.(610-612)CTG>CTA	p.L204L		NM_031215	NP_112492	Q9BTV7	CABL2_HUMAN	Cdk5 and Abl enzyme substrate 2	204					cell cycle|cell division|regulation of cell cycle|regulation of cell division		cyclin-dependent protein kinase regulator activity			pancreas(1)	1	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			TGTCCACCCTCAGGTCACTGC	0.637													7	14	---	---	---	---	PASS
NKAIN4	128414	broad.mit.edu	37	20	61873882	61873882	+	Intron	SNP	C	T	T			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:61873882C>T	uc002yek.2	-							NM_152864	NP_690603	Q8IVV8	NKAI4_HUMAN	Na+/K+ transporting ATPase interacting 4							integral to membrane|plasma membrane					0	all_cancers(38;2.72e-09)					TTCTGCCAGCCATACTTACAA	0.537													36	63	---	---	---	---	PASS
DSCAM	1826	broad.mit.edu	37	21	41648044	41648044	+	Missense_Mutation	SNP	G	A	A			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:41648044G>A	uc002yyq.1	-	11	2788	c.2336C>T	c.(2335-2337)TCC>TTC	p.S779F	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	779	Extracellular (Potential).|Ig-like C2-type 8.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GAGGTACATGGACTTGCTGAC	0.468													59	12	---	---	---	---	PASS
ADRBK2	157	broad.mit.edu	37	22	26083535	26083535	+	Silent	SNP	C	T	T			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:26083535C>T	uc003abx.3	+	11	1005	c.858C>T	c.(856-858)CAC>CAT	p.H286H	ADRBK2_uc010gux.2_Silent_p.H286H|ADRBK2_uc003abw.2_Silent_p.H173H|ADRBK2_uc003aby.3_RNA	NM_005160	NP_005151	P35626	ARBK2_HUMAN	beta-adrenergic receptor kinase 2	286	Protein kinase.						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity			lung(3)|ovary(2)|stomach(1)|central_nervous_system(1)	7					Adenosine triphosphate(DB00171)	TTTCACAACACGGTGTGTTCT	0.403													27	60	---	---	---	---	PASS
TFIP11	24144	broad.mit.edu	37	22	26902880	26902880	+	Missense_Mutation	SNP	G	A	A	rs151208617		TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:26902880G>A	uc003acr.2	-	4	598	c.224C>T	c.(223-225)TCT>TTT	p.S75F	TFIP11_uc003acs.2_Missense_Mutation_p.S75F|TFIP11_uc003act.2_Missense_Mutation_p.S75F	NM_012143	NP_036275	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	75					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity				0						GACTGGCGCAGAGTAGTCACG	0.522													18	58	---	---	---	---	PASS
XBP1	7494	broad.mit.edu	37	22	29192074	29192074	+	Silent	SNP	G	C	C			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:29192074G>C	uc011akl.1	-	5	582	c.534C>G	c.(532-534)CTC>CTG	p.L178L	XBP1_uc003aec.2_5'UTR|XBP1_uc003aed.2_Missense_Mutation_p.S137C|XBP1_uc003aef.2_5'UTR	NM_001079539	NP_001073007	P17861	XBP1_HUMAN	X-box binding protein 1 isoform XBP1(S)	Error:Variant_position_missing_in_P17861_after_alignment					immune response	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1						AATCCATGGGGAGATGTTCTG	0.512													5	175	---	---	---	---	PASS
RAC2	5880	broad.mit.edu	37	22	37628865	37628865	+	Silent	SNP	G	C	C			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:37628865G>C	uc003arc.2	-	3	318	c.201C>G	c.(199-201)CTC>CTG	p.L67L		NM_002872	NP_002863	P15153	RAC2_HUMAN	ras-related C3 botulinum toxin substrate 2	67					axon guidance|platelet activation|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|protein binding			breast(2)|central_nervous_system(1)|skin(1)	4						AGAGCGGCCGGAGACGGTCGT	0.388													7	38	---	---	---	---	PASS
EFCAB6	64800	broad.mit.edu	37	22	44028021	44028021	+	Silent	SNP	C	T	T			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:44028021C>T	uc003bdy.1	-	19	2411	c.2196G>A	c.(2194-2196)CTG>CTA	p.L732L	EFCAB6_uc003bdz.1_Silent_p.L580L|EFCAB6_uc010gzi.1_Silent_p.L580L|EFCAB6_uc010gzj.1_Silent_p.L30L|EFCAB6_uc010gzk.1_RNA	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN	CAP-binding protein complex interacting protein	732					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7		Ovarian(80;0.0247)|all_neural(38;0.025)				GGAAAAGCTTCAGGCATTCTT	0.567													53	124	---	---	---	---	PASS
SHANK3	85358	broad.mit.edu	37	22	51160628	51160628	+	Missense_Mutation	SNP	C	G	G			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:51160628C>G	uc003bne.1	+	22	4415	c.4415C>G	c.(4414-4416)TCT>TGT	p.S1472C	SHANK3_uc003bnf.1_Missense_Mutation_p.S919C|SHANK3_uc010hbg.1_Missense_Mutation_p.S654C	NM_001080420	NP_001073889	F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	1472										central_nervous_system(1)	1		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		GGGCTGGCCTCTGCCGCCGGG	0.711													6	12	---	---	---	---	PASS
CXorf23	256643	broad.mit.edu	37	X	19988388	19988388	+	5'Flank	SNP	G	C	C			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:19988388G>C	uc004czp.2	-							NM_198279	NP_938020	A2AJT9	CX023_HUMAN	hypothetical protein LOC256643							mitochondrion				lung(1)|skin(1)	2						GCCATCCTTTGACACGTGAGC	0.448													30	12	---	---	---	---	PASS
CNKSR2	22866	broad.mit.edu	37	X	21670577	21670577	+	Missense_Mutation	SNP	G	A	A			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:21670577G>A	uc004czx.1	+	22	3079	c.3043G>A	c.(3043-3045)GAA>AAA	p.E1015K	CNKSR2_uc011mjo.1_Missense_Mutation_p.E985K	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras	1015					regulation of signal transduction	cytoplasm|membrane	protein binding			large_intestine(1)|lung(1)	2						TATTTCTTCTGAAGTAGATGT	0.398													37	8	---	---	---	---	PASS
GK	2710	broad.mit.edu	37	X	30719025	30719025	+	Intron	SNP	G	C	C			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:30719025G>C	uc004dch.3	+						GK_uc010ngj.2_Intron|GK_uc004dci.3_Intron|GK_uc011mjz.1_Intron|GK_uc011mka.1_Intron|GK_uc010ngk.2_Intron	NM_203391	NP_976325	P32189	GLPK_HUMAN	glycerol kinase isoform a						glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity			central_nervous_system(1)	1						AAAAATACGTGAGTTTAAGAA	0.363													21	2	---	---	---	---	PASS
HDX	139324	broad.mit.edu	37	X	83723533	83723533	+	Missense_Mutation	SNP	G	C	C			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:83723533G>C	uc004eek.1	-	3	1307	c.1198C>G	c.(1198-1200)CAT>GAT	p.H400D	HDX_uc011mqv.1_Missense_Mutation_p.H400D|HDX_uc004eel.1_Missense_Mutation_p.H342D	NM_144657	NP_653258	Q7Z353	HDX_HUMAN	highly divergent homeobox	400						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			upper_aerodigestive_tract(1)|ovary(1)	2						GATGCAAAATGAGGAGAAAAA	0.318													33	3	---	---	---	---	PASS
PCDH11X	27328	broad.mit.edu	37	X	91132573	91132573	+	Missense_Mutation	SNP	C	A	A			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:91132573C>A	uc004efk.1	+	2	2179	c.1334C>A	c.(1333-1335)CCT>CAT	p.P445H	PCDH11X_uc004efl.1_Missense_Mutation_p.P445H|PCDH11X_uc004efo.1_Missense_Mutation_p.P445H|PCDH11X_uc010nmv.1_Missense_Mutation_p.P445H|PCDH11X_uc004efm.1_Missense_Mutation_p.P445H|PCDH11X_uc004efn.1_Missense_Mutation_p.P445H|PCDH11X_uc004efh.1_Missense_Mutation_p.P445H|PCDH11X_uc004efj.1_Missense_Mutation_p.P445H	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	445	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						GGCAAACCTCCTTTGAATCAG	0.403													81	5	---	---	---	---	PASS
CNGA2	1260	broad.mit.edu	37	X	150911982	150911982	+	Missense_Mutation	SNP	C	T	T			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:150911982C>T	uc004fey.1	+	7	1231	c.1007C>T	c.(1006-1008)ACT>ATT	p.T336I		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	336	Cytoplasmic (Potential).				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)					CTGACTCTCACTACCATTGGG	0.507													102	8	---	---	---	---	PASS
RC3H1	149041	broad.mit.edu	37	1	173961835	173961836	+	Intron	INS	-	AG	AG	rs10635556		TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:173961835_173961836insAG	uc001gju.3	-						RC3H1_uc010pms.1_Intron|RC3H1_uc001gjv.2_Intron|RC3H1_uc010pmt.1_Intron	NM_172071	NP_742068	Q5TC82	RC3H1_HUMAN	roquin						cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2						cacacacacacacagagagaga	0.272													3	5	---	---	---	---	
DNAH7	56171	broad.mit.edu	37	2	196640373	196640373	+	Intron	DEL	A	-	-	rs35237602		TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:196640373delA	uc002utj.3	-						DNAH7_uc002uti.3_Intron	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7						ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						aagatagatgaaAAAAAAAAA	0.129													5	6	---	---	---	---	
SPATS2L	26010	broad.mit.edu	37	2	201337806	201337807	+	Intron	INS	-	A	A	rs11402412		TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:201337806_201337807insA	uc002uvn.3	+						SPATS2L_uc010fst.2_Intron|SPATS2L_uc002uvo.3_Intron|SPATS2L_uc002uvp.3_Intron|SPATS2L_uc002uvq.3_Intron|SPATS2L_uc002uvr.3_Intron|SPATS2L_uc010zhc.1_Intron	NM_015535	NP_056350	Q9NUQ6	SPS2L_HUMAN	SPATS2-like protein isoform a							cytoplasm|nucleolus				ovary(2)|pancreas(1)	3						GGTGCCAGAGGAAAAAAAAAAA	0.569													6	4	---	---	---	---	
DGKD	8527	broad.mit.edu	37	2	234359852	234359852	+	Intron	DEL	T	-	-	rs3214825		TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:234359852delT	uc002vui.1	+						DGKD_uc002vuj.1_Intron|DGKD_uc010fyh.1_Intron|DGKD_uc010fyi.1_Intron	NM_152879	NP_690618	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa isoform 2						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|pancreas(1)|lung(1)|skin(1)	5		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	TGAAAAGTGCTTTTTTTTTTT	0.418													4	2	---	---	---	---	
C3orf63	23272	broad.mit.edu	37	3	56675328	56675329	+	Intron	INS	-	CA	CA			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:56675328_56675329insCA	uc003did.3	-						C3orf63_uc003dic.3_Intron|C3orf63_uc003die.3_Intron	NM_015224	NP_056039	Q9UK61	CC063_HUMAN	retinoblastoma-associated protein 140 isoform b											ovary(3)|kidney(1)|central_nervous_system(1)	5				KIRC - Kidney renal clear cell carcinoma(284;0.0126)|Kidney(284;0.0147)		AGCACCTCTTTCACACACACAC	0.391													15	18	---	---	---	---	
WWTR1	25937	broad.mit.edu	37	3	149374544	149374551	+	Intron	DEL	TCTCTCTT	-	-	rs10665547		TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:149374544_149374551delTCTCTCTT	uc003exe.2	-						WWTR1_uc003exf.2_Intron|WWTR1_uc011bns.1_Intron|WWTR1_uc003exh.2_Intron|uc010hvg.1_5'Flank|uc003exi.1_5'Flank	NM_015472	NP_056287	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1						hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity			breast(3)|skin(1)	4			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			ACGCACCAtctctctctttctctctctc	0.365													4	3	---	---	---	---	
USP13	8975	broad.mit.edu	37	3	179479202	179479203	+	Intron	INS	-	T	T	rs112466724		TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:179479202_179479203insT	uc003fkh.2	+							NM_003940	NP_003931	Q92995	UBP13_HUMAN	ubiquitin thiolesterase 13						ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(1)	1	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			TTTTCTTCTTCTTTTTTTTTTT	0.252													11	5	---	---	---	---	
FRYL	285527	broad.mit.edu	37	4	48596037	48596037	+	Intron	DEL	A	-	-			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:48596037delA	uc003gyh.1	-						FRYL_uc003gyk.2_Intron	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like						regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1						AGCGTTCCTTAAAAAAAAAAA	0.169													6	4	---	---	---	---	
DNAH5	1767	broad.mit.edu	37	5	13867725	13867726	+	Intron	INS	-	A	A	rs142362557	by1000genomes	TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:13867725_13867726insA	uc003jfd.2	-							NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5						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)					AAAGAATTGTGAAAAAAAATGT	0.193									Kartagener_syndrome				11	6	---	---	---	---	
POLK	51426	broad.mit.edu	37	5	74882800	74882801	+	Intron	INS	-	A	A			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:74882800_74882801insA	uc003kdw.2	+						POLK_uc003kdx.2_Intron|POLK_uc003kdy.2_Intron|POLK_uc003keb.2_Intron|POLK_uc010izq.2_Intron|POLK_uc003kec.2_Intron|POLK_uc010izr.2_Intron|POLK_uc010izs.2_Intron|POLK_uc003ked.2_Intron|POLK_uc003kee.2_Intron|POLK_uc003kef.2_Intron	NM_016218	NP_057302	Q9UBT6	POLK_HUMAN	DNA-directed DNA polymerase kappa						DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			ovary(2)|kidney(2)	4		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		CTTGGTTAACTAAAAAAAACTC	0.252								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					5	10	---	---	---	---	
RIOK2	55781	broad.mit.edu	37	5	96509055	96509055	+	Intron	DEL	G	-	-	rs316194	byFrequency	TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:96509055delG	uc003kmz.2	-						RIOK2_uc003kna.3_Intron	NM_018343	NP_060813	Q9BVS4	RIOK2_HUMAN	RIO kinase 2 isoform 1								ATP binding|protein serine/threonine kinase activity			kidney(1)	1		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		TCTACAACCAGAAAAAAAACA	0.299													4	2	---	---	---	---	
AFF4	27125	broad.mit.edu	37	5	132234183	132234183	+	Intron	DEL	T	-	-	rs67779737		TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:132234183delT	uc003kyd.2	-						AFF4_uc011cxk.1_Intron|AFF4_uc003kye.1_Intron	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	ALL1 fused gene from 5q31						transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)|kidney(2)|skin(1)	5		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			tcttcttgtcttttttttttt	0.119													6	4	---	---	---	---	
ATXN1	6310	broad.mit.edu	37	6	16327913	16327915	+	In_Frame_Del	DEL	TGA	-	-	rs11969612	by1000genomes	TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:16327913_16327915delTGA	uc003nbt.2	-	8	1598_1600	c.627_629delTCA	c.(625-630)CATCAG>CAG	p.H209del	ATXN1_uc010jpi.2_In_Frame_Del_p.H209del|ATXN1_uc010jpj.1_Intron	NM_000332	NP_000323	P54253	ATX1_HUMAN	ataxin 1	209	Poly-Gln.				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			skin(3)|central_nervous_system(1)	4	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				ctgctgatgctgatgctgctgct	0.379													2	6	---	---	---	---	
COL9A1	1297	broad.mit.edu	37	6	70970252	70970252	+	Intron	DEL	A	-	-	rs34147259		TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:70970252delA	uc003pfg.3	-						COL9A1_uc003pfe.3_Intron|COL9A1_uc003pff.3_Intron	NM_001851	NP_001842	P20849	CO9A1_HUMAN	alpha 1 type IX collagen isoform 1 precursor						axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			ovary(4)	4						actccatctcaaaaaaaaaaa	0.100													4	3	---	---	---	---	
Unknown	0	broad.mit.edu	37	6	78206041	78206042	+	IGR	DEL	AG	-	-			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:78206041_78206042delAG								HTR1B (32921 upstream) : None (None downstream)																							TTTTTGTAAAAGAGAGAGAGAG	0.411													8	4	---	---	---	---	
SNX14	57231	broad.mit.edu	37	6	86251852	86251852	+	Intron	DEL	A	-	-			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:86251852delA	uc003pkr.2	-						SNX14_uc003pkp.2_Intron|SNX14_uc003pkq.2_Intron|SNX14_uc011dzg.1_Intron|SNX14_uc003pks.2_Intron|SNX14_uc003pkt.2_Intron	NM_153816	NP_722523	Q9Y5W7	SNX14_HUMAN	sorting nexin 14 isoform a						cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity				0		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		CAGTTTTGGGAAAAAAAAAAA	0.274													4	2	---	---	---	---	
SERAC1	84947	broad.mit.edu	37	6	158564362	158564389	+	Intron	DEL	TCTCTCTCTCTCTCTCTCTATATATATA	-	-	rs10594921		TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:158564362_158564389delTCTCTCTCTCTCTCTCTCTATATATATA	uc003qrc.2	-						SERAC1_uc003qrb.2_Intron	NM_032861	NP_116250	Q96JX3	SRAC1_HUMAN	serine active site containing 1						GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds				0		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		tctctctctctctctctctctctctctctatatatatatatatatata	0.189													4	2	---	---	---	---	
SCIN	85477	broad.mit.edu	37	7	12669023	12669024	+	Intron	INS	-	CA	CA	rs147409814	by1000genomes	TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:12669023_12669024insCA	uc003ssn.3	+						SCIN_uc010ktt.2_Intron|SCIN_uc003sso.3_Intron	NM_001112706	NP_001106177	Q9Y6U3	ADSV_HUMAN	scinderin isoform 1						actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			ovary(2)	2				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		CAGTTGCCATCCACAGGCAGCA	0.361													2	6	---	---	---	---	
Unknown	0	broad.mit.edu	37	7	67206114	67206117	+	IGR	DEL	TTCT	-	-	rs56895053		TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:67206114_67206117delTTCT								STAG3L4 (419602 upstream) : None (None downstream)																							ccttccttccttctttccttcctt	0.113													4	2	---	---	---	---	
C7orf58	79974	broad.mit.edu	37	7	120911387	120911388	+	Frame_Shift_Ins	INS	-	A	A	rs141494536	byFrequency	TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:120911387_120911388insA	uc003vjq.3	+	22	3218_3219	c.2771_2772insA	c.(2770-2772)GCAfs	p.A924fs		NM_024913	NP_079189	A4D0V7	CG058_HUMAN	hypothetical protein LOC79974 isoform 1	924						endoplasmic reticulum				ovary(4)|large_intestine(2)|skin(2)|pancreas(1)	9	all_neural(327;0.117)					CTGGATACTGCAAAAAAACATG	0.351													89	39	---	---	---	---	
WASL	8976	broad.mit.edu	37	7	123336466	123336467	+	Intron	INS	-	A	A			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:123336466_123336467insA	uc003vkz.2	-							NM_003941	NP_003932	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome gene-like protein						actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity				0						GCAGCTGCCTTAAAAAAAAAAA	0.287													4	2	---	---	---	---	
Unknown	0	broad.mit.edu	37	7	142021522	142021523	+	Intron	DEL	CA	-	-	rs72430962		TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:142021522_142021523delCA	uc011kro.1	+						uc011krp.1_Intron|uc011krr.1_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		TTCTGCAACTCAGGGCTGGGGA	0.520													4	3	---	---	---	---	
Unknown	0	broad.mit.edu	37	9	15019381	15019381	+	Intron	DEL	G	-	-			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:15019381delG	uc003zln.1	-						LOC389705_uc010mid.1_Intron					Homo sapiens cDNA FLJ46077 fis, clone TESTI2003768, weakly  similar to Chloride channel protein 3.																		AAATGATTTTGGAAGTAGCCT	0.323													0	9	---	---	---	---	
Unknown	0	broad.mit.edu	37	9	69876385	69876386	+	IGR	INS	-	TCT	TCT			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:69876385_69876386insTCT								LOC100133920 (211436 upstream) : FOXD4L5 (299323 downstream)																							TTCTTCTCTTCTCTTCTTGTTT	0.277													3	3	---	---	---	---	
COL15A1	1306	broad.mit.edu	37	9	101796906	101796907	+	Intron	INS	-	CTCCCTC	CTCCCTC	rs150056870	by1000genomes	TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:101796906_101796907insCTCCCTC	uc004azb.1	+							NM_001855	NP_001846	P39059	COFA1_HUMAN	alpha 1 type XV collagen precursor						angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			ovary(6)	6		Acute lymphoblastic leukemia(62;0.0562)				agaaCTTTCTTCTCCCTCCTCC	0.342													5	3	---	---	---	---	
CCBL1	883	broad.mit.edu	37	9	131597418	131597418	+	Intron	DEL	A	-	-			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:131597418delA	uc004bwh.2	-						CCBL1_uc004bwf.2_Intron|CCBL1_uc004bwg.2_Intron|CCBL1_uc010myn.2_Intron|CCBL1_uc004bwj.2_Intron|CCBL1_uc011mbl.1_Intron|CCBL1_uc004bwi.2_Intron|CCBL1_uc010myo.2_Intron	NM_004059	NP_004050	Q16773	KAT1_HUMAN	kynurenine aminotransferase I isoform a						kynurenine metabolic process|L-phenylalanine catabolic process|tryptophan catabolic process	cytosol|nucleus	1-aminocyclopropane-1-carboxylate synthase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|protein homodimerization activity|pyridoxal phosphate binding			ovary(1)	1					L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114)	catctcaaccaaaaaaaaaaa	0.000													4	2	---	---	---	---	
Unknown	0	broad.mit.edu	37	9	138016583	138016586	+	IGR	DEL	AAGG	-	-	rs72035885	by1000genomes	TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:138016583_138016586delAAGG								OLFM1 (3552 upstream) : KIAA0649 (355062 downstream)																							gaaagaaagaaaggaaggaaggaa	0.216													7	5	---	---	---	---	
KNDC1	85442	broad.mit.edu	37	10	135012363	135012363	+	Frame_Shift_Del	DEL	C	-	-			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:135012363delC	uc001llz.1	+	14	2352	c.2351delC	c.(2350-2352)GCCfs	p.A784fs	KNDC1_uc001lma.1_Frame_Shift_Del_p.A719fs|KNDC1_uc001lmb.1_Frame_Shift_Del_p.A196fs	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND)	784	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CCAGTCCCCGCCCCGCCCACG	0.726													4	2	---	---	---	---	
ATL3	25923	broad.mit.edu	37	11	63399600	63399601	+	Intron	INS	-	T	T			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:63399600_63399601insT	uc001nxk.1	-						ATL3_uc010rms.1_Intron|ATL3_uc010rmr.1_Intron	NM_015459	NP_056274	Q6DD88	ATLA3_HUMAN	atlastin 3						endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			pancreas(1)	1						ACATGCTTTAATTTTTTTTTTC	0.441													6	3	---	---	---	---	
SNX15	29907	broad.mit.edu	37	11	64794850	64794851	+	5'UTR	INS	-	C	C	rs146720519	by1000genomes	TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64794850_64794851insC	uc001oci.3	+	4					SNX15_uc009ypy.2_5'UTR|SNX15_uc001ocj.2_5'Flank|SNX15_uc001ock.2_5'Flank	NM_013306	NP_037438	Q9NRS6	SNX15_HUMAN	sorting nexin 15 isoform A						cell communication|intracellular protein transport	cytoplasmic vesicle membrane|cytosol	phosphatidylinositol binding|protein transporter activity			ovary(1)	1						TTGGCCGCGCACCCGGGATCGG	0.619													4	3	---	---	---	---	
KLRC3	3823	broad.mit.edu	37	12	10571548	10571548	+	Intron	DEL	T	-	-			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:10571548delT	uc001qyf.2	-						KLRC3_uc001qyh.2_Intron|KLRC3_uc001qyi.1_Intron|KLRC3_uc010shc.1_Intron|KLRC3_uc010shd.1_Intron	NM_002261	NP_002252	Q07444	NKG2E_HUMAN	killer cell lectin-like receptor subfamily C,						cellular defense response	integral to membrane	sugar binding|transmembrane receptor activity			ovary(2)|skin(1)	3						TTATGGCTTATTTTCTGCAAA	0.284													10	5	---	---	---	---	
BCAT1	586	broad.mit.edu	37	12	24971095	24971097	+	Intron	DEL	AAC	-	-			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:24971095_24971097delAAC	uc001rgd.3	-						BCAT1_uc001rgc.2_Intron|BCAT1_uc010six.1_Intron|BCAT1_uc010siy.1_Intron|BCAT1_uc001rge.3_Intron	NM_005504	NP_005495	P54687	BCAT1_HUMAN	branched chain aminotransferase 1, cytosolic						branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			lung(1)|breast(1)	2	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	TTCTGCTTTGAACAACATTTTCA	0.355													9	13	---	---	---	---	
Unknown	0	broad.mit.edu	37	12	45838885	45838885	+	IGR	DEL	C	-	-			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:45838885delC								ANO6 (4698 upstream) : LOC400027 (280925 downstream)																							ATATGTTTGTCGCTGTATCAG	0.423													4	2	---	---	---	---	
Unknown	0	broad.mit.edu	37	12	129497863	129497864	+	IGR	INS	-	TT	TT	rs10655206		TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:129497863_129497864insTT								GLT1D1 (28354 upstream) : TMEM132D (58407 downstream)																							TGGCAGAATCCTTTTTTTTTTT	0.371													3	3	---	---	---	---	
CRYL1	51084	broad.mit.edu	37	13	21013654	21013654	+	Intron	DEL	A	-	-	rs67005224		TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:21013654delA	uc001une.2	-						CRYL1_uc001unf.2_Intron|CRYL1_uc001ung.2_Intron|CRYL1_uc010tcp.1_Intron	NM_015974	NP_057058	Q9Y2S2	CRYL1_HUMAN	lambda-crystallin						fatty acid metabolic process	cytosol	3-hydroxyacyl-CoA dehydrogenase activity|L-gulonate 3-dehydrogenase activity|NAD+ binding|protein homodimerization activity				0		all_cancers(29;2.27e-23)|all_epithelial(30;1.69e-19)|all_lung(29;8.29e-18)|Lung SC(185;0.0262)|Ovarian(182;0.0827)|Hepatocellular(188;0.244)		all cancers(112;6.6e-05)|Epithelial(112;0.00178)|OV - Ovarian serous cystadenocarcinoma(117;0.0169)|Lung(94;0.0215)|GBM - Glioblastoma multiforme(144;0.0402)|LUSC - Lung squamous cell carcinoma(192;0.061)		CCTCCCCCGCaaaaaaaaaaa	0.254													5	3	---	---	---	---	
Unknown	0	broad.mit.edu	37	13	82265214	82265214	+	IGR	DEL	A	-	-	rs34280872		TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:82265214delA								None (None upstream) : None (None downstream)																							GAGTTGTTCTAAAAAAAAAAA	0.174													3	3	---	---	---	---	
Unknown	0	broad.mit.edu	37	14	19427311	19427312	+	IGR	DEL	TT	-	-			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:19427311_19427312delTT								OR11H12 (48739 upstream) : POTEG (126053 downstream)																							CTCAGTGCTCTTGTTTGAAATT	0.361													3	7	---	---	---	---	
SOS2	6655	broad.mit.edu	37	14	50670810	50670810	+	Intron	DEL	T	-	-			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:50670810delT	uc001wxs.3	-						SOS2_uc010tql.1_Intron	NM_006939	NP_008870	Q07890	SOS2_HUMAN	son of sevenless homolog 2						apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(2)	2	all_epithelial(31;0.000822)|Breast(41;0.0065)					ttgttctaagttttttttttt	0.030													4	2	---	---	---	---	
MAX	4149	broad.mit.edu	37	14	65543066	65543066	+	3'UTR	DEL	A	-	-			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:65543066delA	uc001xif.1	-	5					MAX_uc001xic.1_Intron|MAX_uc001xie.1_3'UTR|MAX_uc010aql.1_3'UTR|MAX_uc001xig.1_3'UTR|MAX_uc001xih.1_RNA	NM_002382	NP_002373	P61244	MAX_HUMAN	MAX protein isoform a						transcription from RNA polymerase II promoter	cytoplasm|MLL1 complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			lung(1)	1				all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)		ataaaaatttaaaaaaaaaaG	0.383													5	3	---	---	---	---	
TNRC6A	27327	broad.mit.edu	37	16	24788143	24788144	+	Intron	INS	-	TC	TC	rs56109657	by1000genomes	TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:24788143_24788144insTC	uc002dmm.2	+						TNRC6A_uc010bxs.2_5'Flank	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A						negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0394)		CACAGAAAGCTTCTGTTTTTTT	0.381													12	6	---	---	---	---	
Unknown	0	broad.mit.edu	37	16	29294232	29294233	+	Intron	INS	-	CTTCCTTT	CTTCCTTT	rs28856588	by1000genomes	TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:29294232_29294233insCTTCCTTT	uc010vct.1	-											RecName: Full=Nuclear pore complex-interacting protein-like 2; Flags: Precursor;																		ttccttccttcctttctttctt	0.000													5	4	---	---	---	---	
CCDC144NL	339184	broad.mit.edu	37	17	20768929	20768930	+	Intron	DEL	AT	-	-	rs76262633		TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:20768929_20768930delAT	uc002gyf.2	-						uc002gyg.1_5'Flank|uc002gyh.1_5'Flank	NM_001004306	NP_001004306	Q6NUI1	C144L_HUMAN	coiled-coil domain containing 144 family,												0						CCAGAAAAAAATATGTGAGAGA	0.292													4	2	---	---	---	---	
SUPT6H	6830	broad.mit.edu	37	17	27014943	27014943	+	Intron	DEL	T	-	-			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:27014943delT	uc002hby.2	+						SUPT6H_uc010crt.2_Intron|SUPT6H_uc002hbz.1_5'Flank	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog						chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Lung NSC(42;0.00431)					AAAGCAAAACttttttttttt	0.303													5	3	---	---	---	---	
SKAP1	8631	broad.mit.edu	37	17	46267039	46267040	+	Intron	INS	-	T	T			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:46267039_46267040insT	uc002ini.1	-						SKAP1_uc002inj.1_Intron|SKAP1_uc010dbd.1_Intron|SKAP1_uc010dbe.1_Intron	NM_003726	NP_003717	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1 isoform						positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway	cytoplasm|nucleus|plasma membrane	antigen binding|protein kinase binding|SH2 domain binding				0						cttgctttttcttttttttttt	0.124													4	2	---	---	---	---	
CACNG4	27092	broad.mit.edu	37	17	64961277	64961280	+	Intron	DEL	CACA	-	-			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:64961277_64961280delCACA	uc002jft.1	+							NM_014405	NP_055220	Q9UBN1	CCG4_HUMAN	voltage-dependent calcium channel gamma-4						membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity			central_nervous_system(1)	1	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			CTCGCCGCCCcacacacacacaca	0.368													4	2	---	---	---	---	
FASN	2194	broad.mit.edu	37	17	80037561	80037561	+	Intron	DEL	T	-	-			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:80037561delT	uc002kdu.2	-						FASN_uc002kdv.1_Intron	NM_004104	NP_004095	P49327	FAS_HUMAN	fatty acid synthase						energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	GCGGGTGGGCttttttttttt	0.358													7	4	---	---	---	---	
HNRNPUL1	11100	broad.mit.edu	37	19	41797899	41797899	+	Intron	DEL	C	-	-	rs66916970		TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:41797899delC	uc002oqb.3	+						CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_Intron|HNRNPUL1_uc002oqa.3_Intron|HNRNPUL1_uc010ehm.2_Intron|HNRNPUL1_uc002oqc.3_Intron|HNRNPUL1_uc002oqe.3_Intron|HNRNPUL1_uc002oqd.3_Intron|HNRNPUL1_uc010ehn.2_Intron|HNRNPUL1_uc010eho.2_Intron|HNRNPUL1_uc010xvy.1_Intron|HNRNPUL1_uc010ehp.2_Intron|HNRNPUL1_uc010ehl.1_Intron	NM_007040	NP_008971	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1						nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding			central_nervous_system(1)|skin(1)	2						aaaaaaaaaacaaaaaaaaaa	0.204													4	2	---	---	---	---	
DEPDC5	9681	broad.mit.edu	37	22	32180607	32180607	+	Intron	DEL	A	-	-	rs36118041		TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:32180607delA	uc003als.2	+						DEPDC5_uc011als.1_Intron|DEPDC5_uc011alu.1_Intron|DEPDC5_uc011alv.1_Intron|DEPDC5_uc003alt.2_Intron|DEPDC5_uc003alr.1_Intron|DEPDC5_uc011alt.1_Intron	NM_014662	NP_055477	O75140	DEPD5_HUMAN	DEP domain containing 5 isoform 1						intracellular signal transduction					ovary(4)|central_nervous_system(3)|pancreas(1)	8						ctcccatctcaaaaaaaaaaa	0.154													10	5	---	---	---	---	
FBXO7	25793	broad.mit.edu	37	22	32891355	32891356	+	Intron	INS	-	T	T	rs11332165		TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:32891355_32891356insT	uc003amq.2	+						FBXO7_uc003amr.2_Intron|FBXO7_uc003ams.2_Intron|FBXO7_uc003amt.2_Intron|FBXO7_uc003amu.2_Intron|FBXO7_uc003amv.2_Intron	NM_012179	NP_036311	Q9Y3I1	FBX7_HUMAN	F-box only protein 7 isoform 1						cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(1)	1						TAAATGGTTAGTTTTTTTTTTT	0.302													9	7	---	---	---	---	
CACNA1I	8911	broad.mit.edu	37	22	40052231	40052231	+	Intron	DEL	T	-	-	rs11418217		TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:40052231delT	uc003ayc.2	+						CACNA1I_uc003ayd.2_Intron|CACNA1I_uc003aye.2_Intron|CACNA1I_uc003ayf.2_Intron	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type,						axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(1)|central_nervous_system(1)	2	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	TGGGTTGTTATTTTTTTTTTC	0.537													8	4	---	---	---	---	
Unknown	0	broad.mit.edu	37	X	505947	505948	+	IGR	DEL	AC	-	-			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:505947_505948delAC								PPP2R3B (158320 upstream) : SHOX (79131 downstream)																							CCCAAAGGGTACACACCCTGCT	0.500													3	4	---	---	---	---	
Unknown	0	broad.mit.edu	37	Y	13492780	13492780	+	IGR	DEL	C	-	-			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrY:13492780delC								None (None upstream) : None (None downstream)																							ATCAAATCCTCCCTAAATTGC	0.458													4	2	---	---	---	---	
Unknown	0	broad.mit.edu	37	Y	28747179	28747179	+	IGR	DEL	A	-	-			TCGA-22-5477-01	TCGA-22-5477-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrY:28747179delA								None (None upstream) : None (None downstream)																							CCTAAAGGGGAAAAAACTGCG	0.358													4	2	---	---	---	---	
