Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_by_all_platform	validation_method	validation_tumor_sample
TP73	7161	broad.mit.edu	37	1	3640003	3640003	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr1:3640003G>A	uc001akp.2	+	6	812	c.702G>A	c.(700-702)CAG>CAA	p.Q234Q	TP73_uc001akq.2_Silent_p.Q234Q|TP73_uc010nzj.1_Silent_p.Q185Q|TP73_uc001akr.2_Silent_p.Q185Q|TP73_uc009vlk.1_Silent_p.Q185Q|TP73_uc001aks.2_Silent_p.Q185Q|TP73_uc010nzk.1_Silent_p.Q163Q	NM_005427	NP_005418	O15350	P73_HUMAN	tumor protein p73 isoform a	234	DNA-binding (Potential).				cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity			ovary(1)|lung(1)	2	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		CCGGCAGGCAGAGCGTCGTGG	0.657		NaN											0	0	0	0.014758	0	5	39				
VPS13D	55187	broad.mit.edu	37	1	12389897	12389897	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr1:12389897C>G	uc001atv.2	+	37	8350	c.8209C>G	c.(8209-8211)CTT>GTT	p.L2737V	VPS13D_uc001atw.2_Missense_Mutation_p.L2737V|VPS13D_uc001atx.2_Missense_Mutation_p.L1925V|VPS13D_uc001aty.1_Missense_Mutation_p.L475V	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	2737					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TCTGAATTTTCTTCAGCGTGT	0.428		NaN											0	0	0	0.105934	0	11	39				
UQCRHL	440567	broad.mit.edu	37	1	16133952	16133952	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr1:16133952C>A	uc009vol.1	-	1	243	c.193G>T	c.(193-195)GAG>TAG	p.E65*		NM_001089591	NP_001083060			ubiquinol-cytochrome c reductase hinge												0						GTGCAATCCTCTTCTGTATGT	0.463		NaN											1	0	2.32078e-09	0.024245	2.57143e-09	13	154				
ARHGEF10L	55160	broad.mit.edu	37	1	17958953	17958953	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr1:17958953C>G	uc001ban.2	+	16	1881	c.1722C>G	c.(1720-1722)ATC>ATG	p.I574M	ARHGEF10L_uc009vpe.1_Missense_Mutation_p.I535M|ARHGEF10L_uc001bao.2_Missense_Mutation_p.I535M|ARHGEF10L_uc001bap.2_Missense_Mutation_p.I535M|ARHGEF10L_uc010ocr.1_Missense_Mutation_p.I332M|ARHGEF10L_uc001baq.2_Missense_Mutation_p.I340M|ARHGEF10L_uc010ocs.1_Missense_Mutation_p.I352M|ARHGEF10L_uc001bar.2_Missense_Mutation_p.I282M|ARHGEF10L_uc009vpf.2_RNA	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF)	574					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(1)|ovary(1)|pancreas(1)	3		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		GTGCCAACATCAACTTCAAGT	0.597		NaN											0	0	0	0.108266	0	19	132				
MYOM3	127294	broad.mit.edu	37	1	24388577	24388577	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr1:24388577C>T	uc001bin.3	-	33	3956	c.3793G>A	c.(3793-3795)GAT>AAT	p.D1265N	MYOM3_uc001bil.3_Missense_Mutation_p.D158N|MYOM3_uc001bim.3_Missense_Mutation_p.D922N	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	myomesin family, member 3	1265										skin(2)|ovary(1)	3		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CTTATCCGATCACCACTCTCC	0.527		NaN											0	0	0	0.055883	0	19	147				
WDTC1	23038	broad.mit.edu	37	1	27623588	27623588	+	Silent	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr1:27623588C>T	uc009vst.2	+	11	1534	c.999C>T	c.(997-999)TCC>TCT	p.S333S	WDTC1_uc001bno.2_Silent_p.S332S|WDTC1_uc001bnp.1_RNA|WDTC1_uc001bnq.2_Silent_p.S11S	NM_015023	NP_055838	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	333							protein binding			ovary(1)|central_nervous_system(1)	2		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		acggtgtgtccaaTGGCCTGC	0.483		NaN									OREG0013279	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.038147	0	7	21				
WDTC1	23038	broad.mit.edu	37	1	27631682	27631682	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr1:27631682G>C	uc009vst.2	+	15	2369	c.1834G>C	c.(1834-1836)GAG>CAG	p.E612Q	WDTC1_uc001bno.2_Missense_Mutation_p.E611Q|WDTC1_uc001bnp.1_RNA|WDTC1_uc001bnq.2_Missense_Mutation_p.E290Q	NM_015023	NP_055838	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	612	WD 7.						protein binding			ovary(1)|central_nervous_system(1)	2		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		CCCCCGACCAGAGGTGAGGGT	0.617		NaN											0	0	0	0.058154	0	7	24				
PHACTR4	65979	broad.mit.edu	37	1	28818294	28818294	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr1:28818294G>A	uc001bpw.2	+	12	2293	c.2011G>A	c.(2011-2013)GAC>AAC	p.D671N	PHACTR4_uc001bpv.1_RNA|PHACTR4_uc001bpx.2_Missense_Mutation_p.D655N|PHACTR4_uc001bpy.2_Missense_Mutation_p.D681N|PHACTR4_uc001bpz.2_RNA	NM_001048183	NP_001041648	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4 isoform 1	671							actin binding|protein phosphatase inhibitor activity				0		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		GACCCCTGCTGACAAGGTACC	0.368		NaN											0	0	0	0.009096	0	3	63				
CSMD2	114784	broad.mit.edu	37	1	34166245	34166245	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr1:34166245C>T	uc001bxn.1	-	23	3514	c.3485G>A	c.(3484-3486)CGT>CAT	p.R1162H	CSMD2_uc001bxm.1_Missense_Mutation_p.R1202H|CSMD2_uc001bxo.1_Missense_Mutation_p.R75H	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1162	Extracellular (Potential).|CUB 7.					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TCCCAGCAAACGGGCGGAGTT	0.498		NaN											0	0	0	0.076483	0	20	52				
UTP11L	51118	broad.mit.edu	37	1	38484964	38484964	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr1:38484964C>T	uc001ccn.3	+	6	567	c.476C>T	c.(475-477)CCG>CTG	p.P159L	UTP11L_uc009vvm.2_Missense_Mutation_p.P90L|UTP11L_uc010oil.1_Intron|UTP11L_uc001cco.3_Missense_Mutation_p.P90L	NM_016037	NP_057121	Q9Y3A2	UTP11_HUMAN	UTP11-like, U3 small nucleolar	159					induction of apoptosis|nerve growth factor receptor signaling pathway|nervous system development|rRNA processing	cytoplasm|extracellular space|nucleolus|small-subunit processome	protein binding				0	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CAAACAGCCCCGGAGCTAGTC	0.433		NaN											0	0	0	0.099896	0	25	115				
ELAVL4	1996	broad.mit.edu	37	1	50642770	50642770	+	Nonsense_Mutation	SNP	T	T	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr1:50642770T>G	uc001csb.2	+	3	528	c.260T>G	c.(259-261)TTA>TGA	p.L87*	ELAVL4_uc001cry.3_Nonsense_Mutation_p.L90*|ELAVL4_uc001crz.3_Nonsense_Mutation_p.L87*|ELAVL4_uc001csa.3_Nonsense_Mutation_p.L104*|ELAVL4_uc001csc.3_Nonsense_Mutation_p.L87*|ELAVL4_uc009vyu.2_Nonsense_Mutation_p.L92*|ELAVL4_uc010omz.1_Nonsense_Mutation_p.L92*	NM_021952	NP_068771	P26378	ELAV4_HUMAN	ELAV-like 4 isoform 1	87	RRM 1.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			ovary(1)|pancreas(1)	2						GGACAGAGTTTAGGGTATGGA	0.264		NaN											0	0	0	0.014758	0	5	29				
PGM1	5236	broad.mit.edu	37	1	64095755	64095755	+	Silent	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr1:64095755C>T	uc001dbh.2	+	3	765	c.552C>T	c.(550-552)TTC>TTT	p.F184F	PGM1_uc010ooy.1_5'UTR|PGM1_uc010ooz.1_Silent_p.F202F	NM_002633	NP_002624	P36871	PGM1_HUMAN	phosphoglucomutase 1	184					cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity			ovary(2)|kidney(1)	3						TCAAACCCTTCACAGGCATGT	0.428		NaN											0	0	0	0.038147	0	7	83				
ATP1A1	476	broad.mit.edu	37	1	116931580	116931580	+	Silent	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr1:116931580C>T	uc001ege.2	+	7	1032	c.693C>T	c.(691-693)TTC>TTT	p.F231F	ATP1A1_uc010owv.1_Silent_p.F200F|ATP1A1_uc010oww.1_Silent_p.F231F|ATP1A1_uc010owx.1_Silent_p.F200F	NM_000701	NP_000692	P05023	AT1A1_HUMAN	Na+/K+ -ATPase alpha 1 subunit isoform a	231	Cytoplasmic (Potential).				ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			ovary(1)	1	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	CTCCAGATTTCACAAATGAAA	0.443		NaN											0	0	0	0.021553	0	5	60				
FLG2	388698	broad.mit.edu	37	1	152325523	152325523	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr1:152325523G>C	uc001ezw.3	-	3	4812	c.4739C>G	c.(4738-4740)ACT>AGT	p.T1580S	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	1580							calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCACTGTCAGTGGACTCACT	0.507		NaN											0	0	0	0.021553	0	5	282				
FLG2	388698	broad.mit.edu	37	1	152325542	152325542	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr1:152325542T>A	uc001ezw.3	-	3	4793	c.4720A>T	c.(4720-4722)ACT>TCT	p.T1574S	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	1574							calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGTGGCTAGTTCTCTGTCTT	0.507		NaN											0	0	0	0.02938	0	5	297				
ATF6	22926	broad.mit.edu	37	1	161823073	161823073	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr1:161823073G>A	uc001gbr.2	+	12	1560	c.1493G>A	c.(1492-1494)AGA>AAA	p.R498K	ATF6_uc001gbq.1_Missense_Mutation_p.R498K	NM_007348	NP_031374	P18850	ATF6A_HUMAN	activating transcription factor 6	498	Lumenal (Potential).				positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)|skin(1)	3	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			ACCAAGTCAAGAAGAATGACA	0.313		NaN											0	0	0	0.004672	0	3	32				
F5	2153	broad.mit.edu	37	1	169512142	169512142	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr1:169512142C>G	uc001ggg.1	-	13	2331	c.2186G>C	c.(2185-2187)AGA>ACA	p.R729T		NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor	729	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TGCAGCCAGTCTGTTCTGGTA	0.433		NaN											0	0	0	0.069456	0	34	182				
EXOC8	149371	broad.mit.edu	37	1	231471422	231471422	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr1:231471422C>G	uc001huq.2	-	1	2157	c.2070G>C	c.(2068-2070)GAG>GAC	p.E690D		NM_175876	NP_787072	Q8IYI6	EXOC8_HUMAN	exocyst complex 84-kDa subunit	690					exocytosis|protein transport	growth cone|nucleus	protein binding			skin(1)	1	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				CAAACCTTTTCTCCACCACAG	0.423		NaN											0	0	0	0.069456	0	30	130				
DIP2C	22982	broad.mit.edu	37	10	468809	468809	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr10:468809C>T	uc001ifp.2	-	5	649	c.559G>A	c.(559-561)GGG>AGG	p.G187R	DIP2C_uc009xhk.1_Silent_p.A188A	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C	187						nucleus	catalytic activity|transcription factor binding			breast(4)|ovary(2)|large_intestine(1)	7		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TGGGCAGCCCCGCTGCCCCCG	0.617		NaN											0	0	0	0.105934	0	10	61				
LARP4B	23185	broad.mit.edu	37	10	888915	888915	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr10:888915C>A	uc001ifs.1	-	6	644	c.603G>T	c.(601-603)AAG>AAT	p.K201N		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	201	HTH La-type RNA-binding.						nucleotide binding|RNA binding			ovary(2)|central_nervous_system(1)	3						TGCTGAGCTTCTTGATGTGGT	0.388		NaN											1	0	3.59834e-05	0.021553	3.81892e-05	5	47				
CALML3	810	broad.mit.edu	37	10	5567418	5567418	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr10:5567418G>A	uc001iie.1	+	1	495	c.370G>A	c.(370-372)GAG>AAG	p.E124K	uc001iid.1_5'Flank	NM_005185	NP_005176	P27482	CALL3_HUMAN	calmodulin-like 3	124	EF-hand 4.						calcium ion binding				0						GGAGGTGGACGAGATGATCCG	0.657		NaN											0	0	0	0.09319	0	10	32				
C10orf18	54906	broad.mit.edu	37	10	5790413	5790413	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr10:5790413G>A	uc001iij.2	+	15	5654	c.5029G>A	c.(5029-5031)GAG>AAG	p.E1677K	C10orf18_uc001iik.2_Missense_Mutation_p.E521K	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	hypothetical protein LOC54906	1677										ovary(1)|central_nervous_system(1)	2						AATAAATGCAGAGCCAGTGTT	0.453		NaN											0	0	0	0.105934	0	9	51				
PCDH15	65217	broad.mit.edu	37	10	55587219	55587219	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr10:55587219G>A	uc001jju.1	-	32	4696	c.4301C>T	c.(4300-4302)GCG>GTG	p.A1434V	PCDH15_uc010qhq.1_Missense_Mutation_p.A1439V|PCDH15_uc010qhr.1_Missense_Mutation_p.A1434V|PCDH15_uc010qhs.1_Missense_Mutation_p.A1446V|PCDH15_uc010qht.1_Missense_Mutation_p.A1441V|PCDH15_uc010qhu.1_Missense_Mutation_p.A1434V|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.A1431V|PCDH15_uc010qhw.1_Missense_Mutation_p.A1394V|PCDH15_uc010qhx.1_Missense_Mutation_p.A1363V|PCDH15_uc010qhy.1_Missense_Mutation_p.A1439V|PCDH15_uc010qhz.1_Missense_Mutation_p.A1434V|PCDH15_uc010qia.1_Missense_Mutation_p.A1412V|PCDH15_uc010qib.1_Missense_Mutation_p.A1409V	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	1434	Cytoplasmic (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				cggcgggggcgCTGCCACTGG	0.443		NaN								HNSCC(58;0.16)			0	0	0	0.09319	0	10	59				
JMJD1C	221037	broad.mit.edu	37	10	64950860	64950860	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr10:64950860C>T	uc001jmn.2	-	17	6385	c.6085G>A	c.(6085-6087)GAA>AAA	p.E2029K	JMJD1C_uc001jml.2_Missense_Mutation_p.E1792K|JMJD1C_uc001jmm.2_Missense_Mutation_p.E1741K|JMJD1C_uc010qiq.1_Missense_Mutation_p.E1847K|JMJD1C_uc009xpi.2_Missense_Mutation_p.E1847K|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc001jmo.2_5'UTR	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	2029					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			ovary(4)|breast(1)|central_nervous_system(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					AGGGTAAGTTCTTTGTTTTCT	0.224		NaN											0	0	0	0.02938	0	6	30				
MAT1A	4143	broad.mit.edu	37	10	82043687	82043687	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr10:82043687C>T	uc001kbw.2	-	3	532	c.277G>A	c.(277-279)GAT>AAT	p.D93N		NM_000429	NP_000420	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	93					methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity				0			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	GCTGAGTCATCGTAGCCGATG	0.587		NaN											0	0	0	0.055883	0	15	75				
WAPAL	23063	broad.mit.edu	37	10	88206121	88206121	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr10:88206121T>C	uc001kdo.2	-	16	3642	c.3200A>G	c.(3199-3201)GAT>GGT	p.D1067G	WAPAL_uc009xsv.2_Missense_Mutation_p.D326G|WAPAL_uc001kdn.2_Missense_Mutation_p.D1104G|WAPAL_uc009xsw.2_Missense_Mutation_p.D1061G	NM_015045	NP_055860	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog	1067	WAPL.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			ovary(1)	1						TCCACTCTTATCATGCTGAGT	0.438		NaN											0	0	0	0.069234	0	9	90				
CEP55	55165	broad.mit.edu	37	10	95275294	95275294	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr10:95275294A>G	uc009xug.2	+	5	843	c.661A>G	c.(661-663)AAA>GAA	p.K221E	CEP55_uc001kiq.3_Missense_Mutation_p.K221E	NM_001127182	NP_001120654	Q53EZ4	CEP55_HUMAN	centrosomal protein 55kDa	221	Interaction with TSG101.				cell division|mitosis	centriole|cleavage furrow|midbody					0		Colorectal(252;0.207)				ACAGCAGACAAAAAAGCCTGA	0.378		NaN											0	0	0	0.043863	0	16	61				
PDZD7	79955	broad.mit.edu	37	10	102789913	102789913	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr10:102789913G>A	uc001kso.1	-	2	279	c.64C>T	c.(64-66)CTG>TTG	p.L22L	PDZD7_uc001ksn.2_Silent_p.L22L|SFXN3_uc001ksp.2_5'Flank|SFXN3_uc001ksq.2_5'Flank|SFXN3_uc010qpx.1_5'Flank	NM_024895	NP_079171	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	22						cilium|nucleus	protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		AGGGAGCTCAGAGAGCCGGAG	0.662		NaN											0	0	0	0.009096	0	4	24				
CCDC147	159686	broad.mit.edu	37	10	106214254	106214254	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr10:106214254G>T	uc001kyh.2	+	18	2719	c.2585G>T	c.(2584-2586)GGA>GTA	p.G862V		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	862										ovary(2)|central_nervous_system(2)|skin(1)	5		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		ACTGGGGGCGGATTTCCTCTC	0.463		NaN											1	0	1.56452e-12	0.043863	1.78343e-12	19	102				
PNLIP	5406	broad.mit.edu	37	10	118321149	118321149	+	Splice_Site	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr10:118321149G>A	uc001lcm.2	+	12	1377	c.1334_splice	c.e12+1	p.Q445_splice		NM_000936	NP_000927	P16233	LIPP_HUMAN	pancreatic lipase precursor						lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			ovary(1)|central_nervous_system(1)|skin(1)	3				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	TTGGAAAACAGTAAGTAATGA	0.363		NaN											0	0	0	0.083992	0	19	70				
SIGIRR	59307	broad.mit.edu	37	11	408082	408082	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr11:408082G>A	uc001lpd.2	-	4	661	c.331C>T	c.(331-333)CAG>TAG	p.Q111*	SIGIRR_uc001lpf.2_Nonsense_Mutation_p.Q111*|SIGIRR_uc001lpe.1_Nonsense_Mutation_p.Q111*|SIGIRR_uc001lpg.2_Nonsense_Mutation_p.Q111*	NM_001135054	NP_001128526	Q6IA17	SIGIR_HUMAN	single Ig IL-1R-related molecule	111	Extracellular (Potential).				acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity	integral to membrane	protein binding|transmembrane receptor activity				0		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCAGCTCTCTGAAGAGTGAAG	0.592		NaN											0	0	0	0.055883	0	18	69				
EPS8L2	64787	broad.mit.edu	37	11	720214	720214	+	Silent	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr11:720214C>T	uc001lqt.2	+	5	565	c.318C>T	c.(316-318)ATC>ATT	p.I106I	EPS8L2_uc010qwj.1_Silent_p.I106I|EPS8L2_uc001lqu.2_Silent_p.I106I|EPS8L2_uc010qwk.1_Silent_p.I106I|EPS8L2_uc001lqv.2_Silent_p.I61I|EPS8L2_uc001lqw.2_5'Flank|EPS8L2_uc001lqx.2_5'Flank	NM_022772	NP_073609	Q9H6S3	ES8L2_HUMAN	epidermal growth factor receptor pathway	106	PID.					cytoplasm				pancreas(1)	1		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGCTGGACATCGAGTCACAGG	0.672		NaN											0	0	0	0.038147	0	6	31				
TRPM5	29850	broad.mit.edu	37	11	2428020	2428020	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr11:2428020C>T	uc001lwm.3	-	21	3131	c.3122G>A	c.(3121-3123)AGA>AAA	p.R1041K	TRPM5_uc010qxl.1_Missense_Mutation_p.R1041K|TRPM5_uc009ydn.2_Missense_Mutation_p.R1043K	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel,	1041	Cytoplasmic (Potential).					integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		TGGCAGGTCTCTCTCTGGGAA	0.632		NaN											0	0	0	0.038147	0	6	44				
ZNF214	7761	broad.mit.edu	37	11	7022459	7022459	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr11:7022459C>G	uc001mfa.2	-	3	758	c.455G>C	c.(454-456)AGA>ACA	p.R152T	ZNF214_uc010ray.1_Missense_Mutation_p.R152T|ZNF214_uc009yfh.1_Missense_Mutation_p.R152T	NM_013249	NP_037381	Q9UL59	ZN214_HUMAN	zinc finger protein 214	152					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		GTAGATTTCTCTACCATAGTC	0.378		NaN											0	0	0	0.105934	0	12	74				
AMBRA1	55626	broad.mit.edu	37	11	46567156	46567156	+	Silent	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr11:46567156G>C	uc010rgu.1	-	5	909	c.549C>G	c.(547-549)GTC>GTG	p.V183V	AMBRA1_uc010rgt.1_5'Flank|AMBRA1_uc009ylc.1_Silent_p.V183V|AMBRA1_uc001ncu.1_Silent_p.V183V|AMBRA1_uc001ncv.2_Silent_p.V183V|AMBRA1_uc001ncw.2_Silent_p.V183V|AMBRA1_uc001ncx.2_Silent_p.V183V	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	activating molecule in beclin-1-regulated	183					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				large_intestine(1)|ovary(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GCACTCACCGGACCCGTTCCA	0.547		NaN											0	0	0	0.028581	0	14	97				
AMBRA1	55626	broad.mit.edu	37	11	46567257	46567257	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr11:46567257G>A	uc010rgu.1	-	5	808	c.448C>T	c.(448-450)CAG>TAG	p.Q150*	AMBRA1_uc010rgt.1_5'Flank|AMBRA1_uc009ylc.1_Nonsense_Mutation_p.Q150*|AMBRA1_uc001ncu.1_Nonsense_Mutation_p.Q150*|AMBRA1_uc001ncv.2_Nonsense_Mutation_p.Q150*|AMBRA1_uc001ncw.2_Nonsense_Mutation_p.Q150*|AMBRA1_uc001ncx.2_Nonsense_Mutation_p.Q150*	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	activating molecule in beclin-1-regulated	150	WD 3.				autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				large_intestine(1)|ovary(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		AGCAGGAGCTGAGCCGTAGGG	0.527		NaN											0	0	0	0.024245	0	13	57				
ZDHHC5	25921	broad.mit.edu	37	11	57457644	57457644	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr11:57457644G>A	uc001nkx.1	+	5	1782	c.526G>A	c.(526-528)GAG>AAG	p.E176K	ZDHHC5_uc001nky.1_Missense_Mutation_p.E123K|ZDHHC5_uc001nkz.1_5'UTR	NM_015457	NP_056272	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC domain containing 5	176						integral to membrane	acyltransferase activity|zinc ion binding			skin(1)	1						CTACCACATAGAGGAACTCTC	0.502		NaN											0	0	0	0.021553	0	6	75				
VWCE	220001	broad.mit.edu	37	11	61026231	61026231	+	Silent	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr11:61026231G>C	uc001nra.2	-	20	3063	c.2784C>G	c.(2782-2784)CTC>CTG	p.L928L	VWCE_uc001nrb.2_RNA	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	928						extracellular region	calcium ion binding			ovary(1)	1						GGGCTGTGGAGAGTCTAGAGG	0.642		NaN											0	0	0	0.0333	0	13	64				
AHNAK	79026	broad.mit.edu	37	11	62296070	62296070	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr11:62296070A>G	uc001ntl.2	-	5	6119	c.5819T>C	c.(5818-5820)GTG>GCG	p.V1940A	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	1940					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				CGACACATCCACATCCCCTTT	0.502		NaN											0	0	0	0.014758	0	5	259				
RCOR2	283248	broad.mit.edu	37	11	63681907	63681907	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr11:63681907C>T	uc001nyc.2	-	6	975	c.587G>A	c.(586-588)CGC>CAC	p.R196H		NM_173587	NP_775858	Q8IZ40	RCOR2_HUMAN	REST corepressor 2	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)|skin(1)	2						TTTGTCCTTGCGGCCCCCCAG	0.602		NaN											0	0	0	0.014758	0	4	97				
ZFPL1	7542	broad.mit.edu	37	11	64855481	64855481	+	Silent	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr11:64855481C>T	uc001ocq.1	+	8	993	c.828C>T	c.(826-828)TTC>TTT	p.F276F		NM_006782	NP_006773	O95159	ZFPL1_HUMAN	zinc finger protein-like 1	276	Helical; (Potential).				regulation of transcription, DNA-dependent|vesicle-mediated transport	Golgi apparatus|integral to membrane|nucleus	DNA binding|zinc ion binding			ovary(1)	1						TGCTGGGCTTCCTGGCCCTCC	0.687		NaN											0	0	0	0.02938	0	7	101				
ANO1	55107	broad.mit.edu	37	11	70003070	70003070	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr11:70003070G>A	uc001opj.2	+	16	1826	c.1521G>A	c.(1519-1521)CTG>CTA	p.L507L	ANO1_uc001opk.1_Silent_p.L449L|ANO1_uc001opl.1_RNA|ANO1_uc010rqk.1_Silent_p.L216L	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	507	Cytoplasmic (Potential).				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			ovary(1)|pancreas(1)	2						AAGTGAAGCTGACATGGAGAG	0.502		NaN											0	0	0	0.014758	0	4	17				
FAT3	120114	broad.mit.edu	37	11	92616261	92616261	+	Silent	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr11:92616261C>T	uc001pdj.3	+	23	12656	c.12639C>T	c.(12637-12639)CGC>CGT	p.R4213R	FAT3_uc001pdi.3_Silent_p.R653R	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	4213	Cytoplasmic (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GGAACCTGCGCGGCAGTGGGG	0.657		NaN								TCGA Ovarian(4;0.039)			0	0	0	0.0333	0	15	72				
EXPH5	23086	broad.mit.edu	37	11	108384321	108384321	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr11:108384321C>T	uc001pkk.2	-	6	2024	c.1913G>A	c.(1912-1914)AGA>AAA	p.R638K	EXPH5_uc010rvy.1_Missense_Mutation_p.R450K|EXPH5_uc010rvz.1_Missense_Mutation_p.R482K|EXPH5_uc010rwa.1_Missense_Mutation_p.R562K	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5 isoform a	638					intracellular protein transport		Rab GTPase binding			skin(3)|ovary(2)	5		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AGGATTCCTTCTGTCATCAGA	0.408		NaN											0	0	0	0.024245	0	12	75				
HSPB2	3316	broad.mit.edu	37	11	111784264	111784264	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr11:111784264C>A	uc001pmg.2	+	2	288	c.194C>A	c.(193-195)TCC>TAC	p.S65Y	CRYAB_uc001pmf.1_5'Flank|CRYAB_uc010rwp.1_5'Flank|HSPB2_uc009yyj.2_RNA|C11orf52_uc001pmh.2_Intron	NM_001541	NP_001532	Q16082	HSPB2_HUMAN	heat shock 27kDa protein 2	65					response to heat|response to unfolded protein	cytosol|nucleus	enzyme activator activity|protein binding			ovary(2)|skin(1)	3		all_cancers(61;3.75e-11)|all_epithelial(67;2.33e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)		GCAGGGGCCTCCGAGCTTAGG	0.622		NaN											1	0	0.000157383	0.038147	0.000165761	7	106				
USP28	57646	broad.mit.edu	37	11	113683113	113683113	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr11:113683113G>A	uc001poh.2	-	16	1890	c.1857C>T	c.(1855-1857)ATC>ATT	p.I619I	USP28_uc001pog.2_Silent_p.I327I|USP28_uc010rwy.1_Silent_p.I494I|USP28_uc001poi.2_5'UTR	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	ubiquitin specific protease 28	619					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1)	7		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		CAGTAACAGAGATGTCATTGT	0.418		NaN											0	0	0	0.058154	0	10	77				
FOXR1	283150	broad.mit.edu	37	11	118851213	118851213	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr11:118851213T>C	uc001pui.2	+	5	850	c.625T>C	c.(625-627)TTT>CTT	p.F209L	FOXR1_uc001puj.2_Intron|FOXR1_uc001puk.2_Missense_Mutation_p.F40L	NM_181721	NP_859072	Q6PIV2	FOXR1_HUMAN	forkhead box R1	209	Fork-head.				embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|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	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		GCACTTCCCCTTTTTCCGGAC	0.562		NaN											0	0	0	0.009096	0	3	74				
OR8B8	26493	broad.mit.edu	37	11	124310774	124310774	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr11:124310774C>A	uc010sal.1	-	1	208	c.208G>T	c.(208-210)GAT>TAT	p.D70Y		NM_012378	NP_036510	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B,	70	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		TAGCAGAAATCTATGAAGGAC	0.453		NaN											1	0	0.000602214	0.014758	0.000629484	5	56				
CLEC4A	50856	broad.mit.edu	37	12	8288244	8288244	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr12:8288244C>G	uc001qtz.1	+	4	609	c.362C>G	c.(361-363)TCT>TGT	p.S121C	CLEC4A_uc009zga.1_Missense_Mutation_p.S82C|CLEC4A_uc001qub.1_Missense_Mutation_p.S88C|CLEC4A_uc001quc.1_Missense_Mutation_p.S49C|CLEC4A_uc009zgb.1_Intron|uc010sgi.1_5'Flank	NM_016184	NP_057268	Q9UMR7	CLC4A_HUMAN	C-type lectin domain family 4, member A isoform	121	Extracellular (Potential).|C-type lectin.				cell adhesion|cell surface receptor linked signaling pathway|innate immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity				0				Kidney(36;0.0915)		TACTTTATTTCTACTGAATCA	0.438		NaN											0	0	0	0.004672	0	3	69				
EPS8	2059	broad.mit.edu	37	12	15815014	15815014	+	Silent	SNP	A	A	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr12:15815014A>G	uc009zif.2	-	9	850	c.756T>C	c.(754-756)TAT>TAC	p.Y252Y	EPS8_uc001rdb.2_Silent_p.Y252Y|EPS8_uc009zig.2_5'UTR|EPS8_uc010shv.1_5'UTR	NM_004447	NP_004438	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway	252					cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		CCTGCTCATGATACTGCCTTG	0.383		NaN											0	0	0	0.009096	0	3	136				
SOX5	6660	broad.mit.edu	37	12	24048864	24048864	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr12:24048864C>A	uc001rfw.2	-	2	235	c.133G>T	c.(133-135)GAC>TAC	p.D45Y	SOX5_uc001rfx.2_Missense_Mutation_p.D32Y|SOX5_uc001rfy.2_Missense_Mutation_p.D32Y|SOX5_uc010siv.1_Missense_Mutation_p.D32Y|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Missense_Mutation_p.D32Y|SOX5_uc001rga.2_Missense_Mutation_p.D45Y	NM_006940	NP_008871	P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5 isoform a	45					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(5)|lung(1)	6						GGGAGCCCGTCACTCTCCTCT	0.527		NaN											1	0	1.04594e-18	0.086207	1.20719e-18	35	183				
KRT2	3849	broad.mit.edu	37	12	53044194	53044194	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr12:53044194G>A	uc001sat.2	-	2	762	c.729C>T	c.(727-729)CTC>CTT	p.L243L		NM_000423	NP_000414	P35908	K22E_HUMAN	keratin 2	243	Coil 1B.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.19)		TTTCTGCAGTGAGCCCATCCA	0.488		NaN											0	0	0	0.048971	0	47	177				
SLC26A10	65012	broad.mit.edu	37	12	58017661	58017661	+	Silent	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr12:58017661C>T	uc001spe.2	+	8	1407	c.1096C>T	c.(1096-1098)CTG>TTG	p.L366L	SLC26A10_uc001spf.2_RNA|SLC26A10_uc009zpz.1_5'Flank	NM_133489	NP_597996	Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	366	Helical; (Potential).					integral to membrane	antiporter activity			large_intestine(1)|central_nervous_system(1)	2	Melanoma(17;0.122)					GTCGGTGCTGCTGTGGCTGGG	0.562		NaN											0	0	0	0.024245	0	14	84				
USP15	9958	broad.mit.edu	37	12	62783261	62783261	+	Silent	SNP	A	A	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr12:62783261A>G	uc001src.1	+	12	1533	c.1524A>G	c.(1522-1524)GCA>GCG	p.A508A	USP15_uc001srb.1_Silent_p.A479A	NM_006313	NP_006304	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	508					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(2)|lung(1)	3			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		TTTGTACAGCATTGTCTGCTT	0.308		NaN											0	0	0	0.0333	0	14	51				
USP15	9958	broad.mit.edu	37	12	62798096	62798096	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr12:62798096G>A	uc001src.1	+	22	2896	c.2887G>A	c.(2887-2889)GAA>AAA	p.E963K	USP15_uc001srb.1_Missense_Mutation_p.E934K	NM_006313	NP_006304	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	963					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(2)|lung(1)	3			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		AGAAAGTGATGAAGATAGCAA	0.403		NaN											0	0	0	0.020292	0	14	46				
GRIP1	23426	broad.mit.edu	37	12	66770815	66770815	+	Silent	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr12:66770815C>T	uc001stk.2	-	21	2845	c.2604G>A	c.(2602-2604)TTG>TTA	p.L868L	GRIP1_uc010sta.1_Silent_p.L812L|GRIP1_uc001stj.2_Intron|GRIP1_uc001stl.1_Intron|GRIP1_uc001stm.2_Intron	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	920					androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			ovary(2)	2			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		TCATGTTTCTCAAAGACACAC	0.393		NaN											0	0	0	0.028581	0	15	95				
ATP2B1	490	broad.mit.edu	37	12	90036059	90036059	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr12:90036059C>G	uc001tbh.2	-	2	463	c.282G>C	c.(280-282)AAG>AAC	p.K94N	ATP2B1_uc001tbg.2_Missense_Mutation_p.K94N	NM_001682	NP_001673	P20020	AT2B1_HUMAN	plasma membrane calcium ATPase 1 isoform 1b	94	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3						AGGTTTTTGGCTTTTTAGGAG	0.318		NaN											0	0	0	0.048971	0	41	241				
EEA1	8411	broad.mit.edu	37	12	93247696	93247696	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr12:93247696G>A	uc001tck.2	-	6	666	c.401C>T	c.(400-402)TCA>TTA	p.S134L		NM_003566	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1, 162kD	134	Potential.				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			ovary(2)|skin(1)	3						GTTACCTGCTGATGAATCAGT	0.308		NaN											0	0	0	0.047766	0	8	28				
UHRF1BP1L	23074	broad.mit.edu	37	12	100453074	100453074	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr12:100453074C>T	uc001tgq.2	-	14	2210	c.1981G>A	c.(1981-1983)GCT>ACT	p.A661T	UHRF1BP1L_uc001tgp.2_Missense_Mutation_p.A311T	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN	UHRF1 (ICBP90) binding protein 1-like isoform a	661										ovary(2)	2						TGTTCATGAGCATGTCTCTGG	0.318		NaN											0	0	0	0.004672	0	3	56				
BTBD11	121551	broad.mit.edu	37	12	108006588	108006588	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr12:108006588G>A	uc001tmk.1	+	6	2362	c.1841G>A	c.(1840-1842)CGT>CAT	p.R614H	BTBD11_uc009zut.1_Missense_Mutation_p.R614H|BTBD11_uc001tmj.2_Missense_Mutation_p.R614H|BTBD11_uc001tml.1_Missense_Mutation_p.R151H	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11 isoform a	614	ANK 1.					integral to membrane	DNA binding			skin(2)|ovary(1)	3						GCCTGCGTCCGTGGGGACGAG	0.577		NaN											0	0	0	0.058154	0	7	41				
NOS1	4842	broad.mit.edu	37	12	117698400	117698400	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr12:117698400G>C	uc001twm.1	-	14	2923	c.2237C>G	c.(2236-2238)TCG>TGG	p.S746W	NOS1_uc001twn.1_5'Flank	NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1, neuronal	746	Calmodulin-binding (Potential).				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			ovary(3)|skin(3)|pancreas(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CAGCTTGGCCGAGAACTTGAC	0.522		NaN											0	0	0	0.014758	0	4	31				
CLIP1	6249	broad.mit.edu	37	12	122825899	122825899	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr12:122825899C>T	uc001ucg.1	-	10	1958	c.1852G>A	c.(1852-1854)GAT>AAT	p.D618N	CLIP1_uc001uch.1_Missense_Mutation_p.D607N|CLIP1_uc001uci.1_Missense_Mutation_p.D572N|CLIP1_uc001ucj.1_Missense_Mutation_p.D308N|CLIP1_uc009zxo.1_Missense_Mutation_p.D174N	NM_002956	NP_002947	P30622	CLIP1_HUMAN	restin isoform a	618	Potential.				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			ovary(2)|breast(1)	3	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		GCTATCACATCTGAGTTCTCT	0.478		NaN											0	0	0	0.049695	0	18	67				
POLE	5426	broad.mit.edu	37	12	133257231	133257231	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr12:133257231C>G	uc001uks.1	-	3	291	c.247G>C	c.(247-249)GAT>CAT	p.D83H	POLE_uc010tbq.1_RNA|POLE_uc009zyu.1_Intron	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	DNA-directed DNA polymerase epsilon	83					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		AAGTAGTAATCCACTGCACTG	0.428		NaN						DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					0	0	0	0.028581	0	15	64				
PAN3	255967	broad.mit.edu	37	13	28834599	28834599	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr13:28834599C>T	uc001urz.2	+	7	834	c.826C>T	c.(826-828)CAT>TAT	p.H276Y	PAN3_uc010tdo.1_Missense_Mutation_p.H422Y|PAN3_uc001ury.2_Missense_Mutation_p.H110Y|PAN3_uc001urx.2_Missense_Mutation_p.H222Y	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	PABP1-dependent poly A-specific ribonuclease	422	Interaction with polyadenylate-binding protein.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			ovary(1)	1	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		TCCAAACTATCATATTTATCC	0.323		NaN											0	0	0	0.030593	0	24	56				
FRY	10129	broad.mit.edu	37	13	32745308	32745308	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr13:32745308G>A	uc001utx.2	+	18	2548	c.2052G>A	c.(2050-2052)TCG>TCA	p.S684S	FRY_uc010tdw.1_RNA	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	684					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TCCTTGATTCGTCCCTGAAGT	0.443		NaN											0	0	0	0.080422	0	30	51				
ATP11A	23250	broad.mit.edu	37	13	113532571	113532571	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr13:113532571T>A	uc001vsi.3	+	29	3456	c.3368T>A	c.(3367-3369)TTT>TAT	p.F1123Y	ATP11A_uc001vsj.3_Intron|ATP11A_uc010ago.2_RNA	NM_015205	NP_056020	P98196	AT11A_HUMAN	ATPase, class VI, type 11A isoform a	1123	Cytoplasmic (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			large_intestine(2)|ovary(2)	4	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				TCAACCATCTTTATGCTTTCT	0.547		NaN											0	0	0	0.014758	0	4	80				
ADPRHL1	113622	broad.mit.edu	37	13	114077230	114077230	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr13:114077230G>A	uc001vtq.1	-	7	1059	c.972C>T	c.(970-972)CTC>CTT	p.L324L	ADPRHL1_uc001vtp.1_Silent_p.L242L	NM_138430	NP_612439	Q8NDY3	ARHL1_HUMAN	ADP-ribosylhydrolase like 1 isoform 1	324					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding				0	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			CTTTGGGAACGAGGTCCAGGC	0.617		NaN											0	0	0	0.045705	0	27	83				
REC8	9985	broad.mit.edu	37	14	24648055	24648055	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr14:24648055G>A	uc001wmr.2	+	16	1563	c.1136G>A	c.(1135-1137)CGA>CAA	p.R379Q	REC8_uc001wms.2_Missense_Mutation_p.R379Q	NM_005132	NP_005123	O95072	REC8_HUMAN	REC8 homolog	379	Glu-rich.				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm					0				GBM - Glioblastoma multiforme(265;0.00839)		GCCCTCAGGCGAGAGCTGCCT	0.582		NaN											0	0	0	0.105934	0	14	186				
CDKL1	8814	broad.mit.edu	37	14	50845041	50845041	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr14:50845041G>A	uc010anu.1	-	9	1208	c.1208C>T	c.(1207-1209)CCT>CTT	p.P403L	CDKL1_uc001wxz.2_Intron	NM_004196	NP_004187	Q00532	CDKL1_HUMAN	cyclin-dependent kinase-like 1	Error:Variant_position_missing_in_Q00532_after_alignment						cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			ovary(1)|stomach(1)	2	all_epithelial(31;0.000746)|Breast(41;0.0102)					agggcaataaggttcttgctc	0		NaN											0	0	0	0.020292	0	13	23				
ARID4A	5926	broad.mit.edu	37	14	58831244	58831244	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr14:58831244G>T	uc001xdp.2	+	20	2691	c.2437G>T	c.(2437-2439)GGC>TGC	p.G813C	ARID4A_uc001xdo.2_Missense_Mutation_p.G813C|ARID4A_uc001xdq.2_Missense_Mutation_p.G813C|ARID4A_uc010apg.1_Missense_Mutation_p.G491C	NM_002892	NP_002883	P29374	ARI4A_HUMAN	retinoblastoma-binding protein 1 isoform I	813					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|skin(2)|lung(1)	6						TTCATCATTTGGCCAGAATGA	0.333		NaN											1	0	2.74318e-10	0.058154	3.07636e-10	8	22				
C14orf68	283600	broad.mit.edu	37	14	100795895	100795895	+	Silent	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr14:100795895C>G	uc001yhc.2	+	6	913	c.840C>G	c.(838-840)CTC>CTG	p.L280L	C14orf68_uc001yhd.2_Silent_p.L134L	NM_207117	NP_997000	Q6Q0C1	S2547_HUMAN	chromosome 14 open reading frame 68	280	Helical; Name=6; (Potential).|Solcar 3.				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding				0		Melanoma(154;0.152)				GGCTGGTACTCAATTGCTGCC	0.647		NaN											0	0	0	0.045705	0	27	83				
CEP152	22995	broad.mit.edu	37	15	49074365	49074365	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr15:49074365T>C	uc001zwy.2	-	11	1418	c.1384A>G	c.(1384-1386)ATG>GTG	p.M462V	CEP152_uc001zwz.2_Missense_Mutation_p.M462V|CEP152_uc001zxa.1_Missense_Mutation_p.M369V	NM_014985	NP_055800	O94986	CE152_HUMAN	centrosomal protein 152kDa	462	Potential.				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			lung(2)	2		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TTTGCACTCATAGCATGTGCC	0.393		NaN											0	0	0	0.020292	0	10	61				
SECISBP2L	9728	broad.mit.edu	37	15	49285034	49285034	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr15:49285034C>T	uc001zxe.1	-	18	2847	c.2713G>A	c.(2713-2715)GAA>AAA	p.E905K	SECISBP2L_uc001zxd.1_Missense_Mutation_p.E860K	NM_014701	NP_055516	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	905										breast(1)|skin(1)	2						CTGGGTTTTTCAGAAGTGCTG	0.433		NaN											0	0	0	0.034045	0	27	95				
MYO1E	4643	broad.mit.edu	37	15	59500904	59500904	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr15:59500904G>A	uc002aga.2	-	14	1878	c.1506C>T	c.(1504-1506)TTC>TTT	p.F502F		NM_004998	NP_004989	Q12965	MYO1E_HUMAN	myosin IE	502	Myosin head-like.				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity			central_nervous_system(3)	3				all cancers(107;0.207)		GATGAATGATGAAGCCTTGGT	0.453		NaN											0	0	0	0.069234	0	8	150				
C15orf42	90381	broad.mit.edu	37	15	90119305	90119305	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr15:90119305C>T	uc002boe.2	+	1	488	c.488C>T	c.(487-489)TCG>TTG	p.S163L		NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	leucine-rich repeat kinase 1	163					cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			ovary(4)|central_nervous_system(2)|skin(1)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			TGTCCGCACTCGCAGAGGGAG	0.682		NaN											0	0	0	0.009096	0	3	23				
SYNM	23336	broad.mit.edu	37	15	99670051	99670051	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr15:99670051C>G	uc002bup.2	+	6	1606	c.1486C>G	c.(1486-1488)CTG>GTG	p.L496V	SYNM_uc002buo.2_Missense_Mutation_p.L496V|SYNM_uc002buq.2_Intron	NM_145728	NP_663780	O15061	SYNEM_HUMAN	desmuslin isoform A	496	Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			ovary(3)|central_nervous_system(1)	4						GACCGTCATTCTGGGAAAGAA	0.493		NaN											0	0	0	0.004672	0	3	21				
C16orf11	146325	broad.mit.edu	37	16	613542	613542	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr16:613542C>T	uc002chk.2	+	2	527	c.248C>T	c.(247-249)CCT>CTT	p.P83L		NM_145270	NP_660313	P0CG20	CP011_HUMAN	hypothetical protein LOC146325	83	Pro-rich.									central_nervous_system(1)	1						TCCACCACGCCTAGGCCCCAC	0.692		NaN											0	0	0	0.014758	0	4	23				
TELO2	9894	broad.mit.edu	37	16	1552951	1552951	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr16:1552951C>T	uc002cly.2	+	15	2081	c.1790C>T	c.(1789-1791)TCA>TTA	p.S597L		NM_016111	NP_057195	Q9Y4R8	TELO2_HUMAN	TEL2, telomere maintenance 2, homolog	597						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding				0		Hepatocellular(780;0.219)				TATCTGACCTCACAGTTCTAT	0.657		NaN											0	0	0	0.028581	0	12	137				
NTHL1	4913	broad.mit.edu	37	16	2094652	2094652	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr16:2094652G>C	uc002col.1	-	3	547	c.528C>G	c.(526-528)ATC>ATG	p.I176M	NTHL1_uc002com.1_Missense_Mutation_p.I177M	NM_002528	NP_002519	P78549	NTHL1_HUMAN	nth endonuclease III-like 1	176					depyrimidination|nucleotide-excision repair, DNA incision, 5'-to lesion	nucleoplasm	4 iron, 4 sulfur cluster binding|double-stranded DNA binding|endonuclease activity|metal ion binding|oxidized pyrimidine base lesion DNA N-glycosylase activity|protein binding			lung(1)	1						CGACGGGGTAGATGAGCTTGC	0.682		NaN						BER_DNA_glycosylases					0	0	0	0.02938	0	5	70				
MEFV	4210	broad.mit.edu	37	16	3293384	3293384	+	Silent	SNP	C	C	T	rs104895095		TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr16:3293384C>T	uc002cun.1	-	10	2143	c.2103G>A	c.(2101-2103)GCG>GCA	p.A701A		NM_000243	NP_000234	O15553	MEFV_HUMAN	Mediterranean fever protein	701	B30.2/SPRY.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			central_nervous_system(2)|skin(2)|ovary(1)|lung(1)	6					Colchicine(DB01394)	GAACGCTGGACGCCTGGTACT	0.517		NaN											0	0	0	0.024245	0	14	69				
ZNF75A	7627	broad.mit.edu	37	16	3367786	3367786	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr16:3367786G>C	uc002cut.3	+	6	1334	c.808G>C	c.(808-810)GAG>CAG	p.E270Q	ZNF75A_uc002cuv.3_RNA	NM_153028	NP_694573	Q96N20	ZN75A_HUMAN	zinc finger protein 75a	270					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1						CCACACAGGTGAGCAGCCATA	0.453		NaN											0	0	0	0.049695	0	17	70				
ABCC6	368	broad.mit.edu	37	16	16276399	16276399	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr16:16276399G>A	uc002den.3	-	17	2154	c.2117C>T	c.(2116-2118)TCT>TTT	p.S706F	ABCC6_uc010bvo.2_RNA	NM_001171	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C, member 6	706	ABC transporter 1.|Cytoplasmic (By similarity).				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			skin(2)|ovary(1)	3				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		CTCTACCACAGAGGTGTTCTG	0.577		NaN											0	0	0	0.080935	0	10	51				
ATP2A1	487	broad.mit.edu	37	16	28913966	28913966	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr16:28913966C>G	uc002dro.1	+	18	2774	c.2590C>G	c.(2590-2592)CAT>GAT	p.H864D	uc010vct.1_Intron|ATP2A1_uc002drn.1_Missense_Mutation_p.H864D|ATP2A1_uc002drp.1_Missense_Mutation_p.H739D	NM_173201	NP_775293	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, fast twitch 1 isoform	864	Lumenal (By similarity).				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|ATP binding|calcium ion binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						GGATGGGCCTCATGTCAACTA	0.652		NaN											0	0	0	0.038395	0	14	54				
MAPK3	5595	broad.mit.edu	37	16	30129483	30129483	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr16:30129483A>T	uc002dws.2	-	4	645	c.545T>A	c.(544-546)ATT>AAT	p.I182N	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MAPK3_uc002dwr.2_Missense_Mutation_p.I68N|MAPK3_uc002dwv.3_Missense_Mutation_p.I182N|MAPK3_uc002dwt.2_Missense_Mutation_p.I182N|MAPK3_uc002dwu.2_RNA|MAPK3_uc010bzp.2_RNA	NM_002746	NP_002737	P27361	MK03_HUMAN	mitogen-activated protein kinase 3 isoform 1	182	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription initiation from RNA polymerase I promoter	cytosol|nucleoplasm	ATP binding|MAP kinase activity|phosphatase binding				0					Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605)	GAAATCACAAATCTGGAATCA	0.592		NaN											0	0	0	0.038147	0	5	38				
ITGAM	3684	broad.mit.edu	37	16	31341460	31341460	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr16:31341460C>A	uc002ebq.2	+	26	3133	c.3035C>A	c.(3034-3036)GCT>GAT	p.A1012D	ITGAM_uc002ebr.2_Missense_Mutation_p.A1013D|ITGAM_uc010can.2_Missense_Mutation_p.A418D	NM_000632	NP_000623	P11215	ITAM_HUMAN	integrin alpha M isoform 2 precursor	1012	Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			kidney(1)	1						GACTTTCTGGCTGAGCTTCGG	0.597		NaN											1	0	8.12818e-05	0.02938	8.59354e-05	6	22				
NOL3	8996	broad.mit.edu	37	16	67208978	67208978	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr16:67208978G>A	uc010vjd.1	+	4	831	c.824G>A	c.(823-825)CGG>CAG	p.R275Q	NOL3_uc010vjc.1_3'UTR|NOL3_uc002erp.2_3'UTR			O60936	NOL3_HUMAN	RecName: Full=Nucleolar protein 3; AltName: Full=Apoptosis repressor with CARD; AltName: Full=Muscle-enriched cytoplasmic protein;          Short=Myp; AltName: Full=Nucleolar protein of 30 kDa;          Short=Nop30;	213					anti-apoptosis|apoptosis|mRNA processing|RNA splicing	cytosol|nucleolus	identical protein binding|RNA binding				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		TCTGACAGGCGGTGCCCCGCC	0.612		NaN											0	0	0	0.069456	0	31	162				
NFATC3	4775	broad.mit.edu	37	16	68224692	68224692	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr16:68224692G>A	uc002evo.1	+	9	2330	c.2120G>A	c.(2119-2121)AGA>AAA	p.R707K	NFATC3_uc010vkl.1_Missense_Mutation_p.R228K|NFATC3_uc010vkm.1_Missense_Mutation_p.R228K|NFATC3_uc010vkn.1_Missense_Mutation_p.R228K|NFATC3_uc010vko.1_Missense_Mutation_p.R228K|NFATC3_uc010vkp.1_Missense_Mutation_p.R228K|NFATC3_uc010vkq.1_Missense_Mutation_p.R228K|NFATC3_uc002evl.2_Missense_Mutation_p.R228K|NFATC3_uc002evk.2_Missense_Mutation_p.R707K|NFATC3_uc002evm.1_Missense_Mutation_p.R707K|NFATC3_uc002evn.1_Missense_Mutation_p.R707K|NFATC3_uc010vkr.1_Missense_Mutation_p.R228K|NFATC3_uc010vks.1_Missense_Mutation_p.R228K|NFATC3_uc010vkt.1_Missense_Mutation_p.R228K|NFATC3_uc010vku.1_Missense_Mutation_p.R228K|NFATC3_uc010vkv.1_Missense_Mutation_p.R228K|NFATC3_uc010vkw.1_Missense_Mutation_p.R228K|NFATC3_uc010vkx.1_Missense_Mutation_p.R228K|NFATC3_uc010vky.1_Missense_Mutation_p.R228K|NFATC3_uc010vkz.1_Missense_Mutation_p.R228K|NFATC3_uc010vla.1_Missense_Mutation_p.R228K|NFATC3_uc010vlb.1_Missense_Mutation_p.R228K|NFATC3_uc010vlc.1_Missense_Mutation_p.R228K	NM_173165	NP_775188	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells,	707					inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	3		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		CAAGAACACAGAGAAGAGATT	0.388		NaN											0	0	0	0.02938	0	6	120				
AARS	16	broad.mit.edu	37	16	70299548	70299548	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr16:70299548G>A	uc002eyn.1	-	10	1350	c.1240C>T	c.(1240-1242)CTC>TTC	p.L414F	AARS_uc010vlu.1_Missense_Mutation_p.L244F	NM_001605	NP_001596	P49588	SYAC_HUMAN	alanyl-tRNA synthetase	414					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	p.L414L(1)		pancreas(1)	1		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	GTGTCATAGAGGAGCCAAGCA	0.507		NaN											0	0	0	0.105934	0	11	21				
SF3B3	23450	broad.mit.edu	37	16	70562947	70562947	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr16:70562947G>A	uc002ezf.2	+	3	453	c.242G>A	c.(241-243)GGC>GAC	p.G81D	SNORD111B_uc010cfv.1_5'Flank	NM_012426	NP_036558	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3	81					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			ovary(1)	1		Ovarian(137;0.0694)				ATTGTAGTTGGCAGTGACTCT	0.458		NaN											0	0	0	0.09319	0	12	79				
ZC3H18	124245	broad.mit.edu	37	16	88694357	88694357	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr16:88694357G>C	uc002fky.2	+	15	2499	c.2299G>C	c.(2299-2301)GAG>CAG	p.E767Q	ZC3H18_uc010voz.1_Missense_Mutation_p.E791Q|ZC3H18_uc010chw.2_Intron|ZC3H18_uc002fkz.2_Missense_Mutation_p.E37Q	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	767						nucleus	nucleic acid binding|zinc ion binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CGGTGTTAAAGAGGAAAAGCG	0.522		NaN											0	0	0	0.024245	0	13	75				
SPIRE2	84501	broad.mit.edu	37	16	89925754	89925754	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr16:89925754G>C	uc002foz.1	+	9	1506	c.1454G>C	c.(1453-1455)CGA>CCA	p.R485P	SPIRE2_uc010civ.1_Missense_Mutation_p.R400P|SPIRE2_uc010ciw.1_Missense_Mutation_p.R485P|SPIRE2_uc002fpa.1_Missense_Mutation_p.R437P|SPIRE2_uc010cix.1_Missense_Mutation_p.R352P	NM_032451	NP_115827	Q8WWL2	SPIR2_HUMAN	spire homolog 2	485					transport	cytoplasm|cytoskeleton	actin binding			central_nervous_system(1)	1		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		CCCGGCTCCCGAGACCAGGGC	0.697		NaN											0	0	0	0.004672	0	2	14				
KIAA0664	23277	broad.mit.edu	37	17	2601720	2601720	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr17:2601720G>A	uc002fuy.1	-	10	1403	c.1317C>T	c.(1315-1317)TTC>TTT	p.F439F	KIAA0664_uc002fux.1_Silent_p.F371F	NM_015229	NP_056044	O75153	K0664_HUMAN	hypothetical protein LOC23277	439							binding			breast(2)	2						CGTCCCCCCCGAAGTCCTTGT	0.622		NaN											0	0	0	0.105934	0	11	17				
KIAA0664	23277	broad.mit.edu	37	17	2603983	2603983	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr17:2603983T>C	uc002fuy.1	-	8	1134	c.1048A>G	c.(1048-1050)ATT>GTT	p.I350V	KIAA0664_uc002fux.1_Missense_Mutation_p.I282V	NM_015229	NP_056044	O75153	K0664_HUMAN	hypothetical protein LOC23277	350							binding			breast(2)	2						TGTCCAGGAATGTGCTCCTCA	0.662		NaN											0	0	0	0.014758	0	4	35				
ABHD15	116236	broad.mit.edu	37	17	27889911	27889911	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr17:27889911C>T	uc002hed.1	-	2	1139	c.1075G>A	c.(1075-1077)GAC>AAC	p.D359N		NM_198147	NP_937790	Q6UXT9	ABH15_HUMAN	abhydrolase domain containing 15 precursor	359						extracellular region	carboxylesterase activity				0						ACGGGGTCGTCAGCACTGCAG	0.602		NaN											0	0	0	0.058154	0	9	69				
SUZ12	23512	broad.mit.edu	37	17	30315444	30315444	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr17:30315444C>T	uc002hgs.2	+	10	1351	c.1129C>T	c.(1129-1131)CTT>TTT	p.L377F	SUZ12_uc002hgt.2_Missense_Mutation_p.L354F	NM_015355	NP_056170	Q15022	SUZ12_HUMAN	joined to JAZF1	377					negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding		JAZF1/SUZ12(131)	soft_tissue(98)|endometrium(33)	131		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				TGCCAAACCTCTTGCCACTAG	0.413		NaN	T	JAZF1	endometrial stromal tumours								0	0	0	0.047766	0	8	41				
POLG2	11232	broad.mit.edu	37	17	62486958	62486958	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr17:62486958A>C	uc002jei.2	-	4	1007	c.924T>G	c.(922-924)GAT>GAG	p.D308E	POLG2_uc010deg.1_Missense_Mutation_p.D308E	NM_007215	NP_009146	Q9UHN1	DPOG2_HUMAN	DNA polymerase subunit gamma-2, mitochondrial	308					DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding			central_nervous_system(1)	1	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			AAAGTTCGTGATCTCCTAGGT	0.393		NaN											0	0	0	0.069234	0	9	101				
RGS9	8787	broad.mit.edu	37	17	63173909	63173909	+	Silent	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr17:63173909C>G	uc002jfe.2	+	9	752	c.642C>G	c.(640-642)GTC>GTG	p.V214V	RGS9_uc010dem.2_Silent_p.V214V|RGS9_uc002jfd.2_Silent_p.V214V|RGS9_uc002jff.2_RNA	NM_003835	NP_003826	O75916	RGS9_HUMAN	regulator of G-protein signaling 9 isoform 1	214					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			ovary(2)|skin(2)	4						CGAATGAAGTCAAGGTAAACC	0.493		NaN											0	0	0	0.064281	0	33	130				
BPTF	2186	broad.mit.edu	37	17	65907091	65907091	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr17:65907091C>A	uc002jgf.2	+	11	3152	c.3091C>A	c.(3091-3093)CAG>AAG	p.Q1031K	BPTF_uc002jge.2_Missense_Mutation_p.Q1157K	NM_182641	NP_872579	Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1157					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			ovary(2)|skin(2)	4	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TGTAAATTGTCAGGAGAGTTC	0.383		NaN											1	0	0.000274275	0.047766	0.000287781	9	62				
TTYH2	94015	broad.mit.edu	37	17	72233573	72233573	+	Silent	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr17:72233573C>G	uc002jkc.2	+	4	586	c.555C>G	c.(553-555)CTC>CTG	p.L185L	TTYH2_uc010wqw.1_Silent_p.L164L	NM_032646	NP_116035	Q9BSA4	TTYH2_HUMAN	tweety 2 isoform 1	185	Extracellular (Potential).					chloride channel complex|plasma membrane	chloride channel activity|protein binding			ovary(3)|large_intestine(1)	4						TTGTTCAGCTCTCAGGACTGC	0.602		NaN											0	0	0	0.038147	0	6	83				
TMEM104	54868	broad.mit.edu	37	17	72781647	72781647	+	Silent	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr17:72781647C>T	uc002jls.3	+	3	234	c.72C>T	c.(70-72)CTC>CTT	p.L24L	TMEM104_uc010wrf.1_Silent_p.L24L|TMEM104_uc010wrg.1_Intron|TMEM104_uc010dfx.2_Silent_p.L24L	NM_017728	NP_060198	Q8NE00	TM104_HUMAN	transmembrane protein 104	24	Helical; (Potential).					integral to membrane					0	all_lung(278;0.23)					TGTTTAACCTCATCGTGGGCA	0.572		NaN											0	0	0	0.069288	0	21	195				
TSEN54	283989	broad.mit.edu	37	17	73512921	73512921	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr17:73512921C>T	uc002jof.1	+	2	184	c.151C>T	c.(151-153)CAG>TAG	p.Q51*	CASKIN2_uc002joc.2_5'Flank|CASKIN2_uc002jod.2_5'Flank|TSEN54_uc002joe.1_Nonsense_Mutation_p.Q51*	NM_207346	NP_997229	Q7Z6J9	SEN54_HUMAN	tRNA splicing endonuclease 54 homolog	51					mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	nucleolus				ovary(1)	1	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTCGGCAGCTCAGGCCGAGCG	0.736		NaN											0	0	0	0.004672	0	3	15				
METRNL	284207	broad.mit.edu	37	17	81052039	81052039	+	Missense_Mutation	SNP	G	G	A	rs147805686		TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr17:81052039G>A	uc002kgh.2	+	4	780	c.655G>A	c.(655-657)GAG>AAG	p.E219K	METRNL_uc002kgi.2_Missense_Mutation_p.E137K	NM_001004431	NP_001004431	Q641Q3	METRL_HUMAN	meteorin, glial cell differentiation	219						extracellular region					0	Breast(20;0.000443)|all_neural(118;0.0779)		BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			CCACGAGCCTGAGCGGCAGGA	0.637		NaN											0	0	0	0.021553	0	4	167				
ZNF521	25925	broad.mit.edu	37	18	22807156	22807156	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr18:22807156C>T	uc002kvk.2	-	4	973	c.726G>A	c.(724-726)ATG>ATA	p.M242I	ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.M242I|ZNF521_uc002kvl.2_Missense_Mutation_p.M22I	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	242					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			ovary(4)|large_intestine(2)|lung(1)	7	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GAGTGTCCTTCATCTTCCAGT	0.527		NaN	T	PAX5	ALL								0	0	0	0.024245	0	16	59				
DSG1	1828	broad.mit.edu	37	18	28908201	28908201	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr18:28908201G>C	uc002kwp.2	+	4	478	c.266G>C	c.(265-267)GGA>GCA	p.G89A		NM_001942	NP_001933	Q02413	DSG1_HUMAN	desmoglein 1 preproprotein	89	Extracellular (Potential).|Cadherin 1.				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)			CGCATCTCTGGAGTAGGAATT	0.388		NaN											0	0	0	0.0333	0	15	65				
RTTN	25914	broad.mit.edu	37	18	67816249	67816249	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr18:67816249G>C	uc002lkp.2	-	17	2265	c.2197C>G	c.(2197-2199)CTG>GTG	p.L733V	RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_5'UTR	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	733							binding			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8		Esophageal squamous(42;0.129)				CAGTTACCCAGAGGATCTTCT	0.368		NaN											0	0	0	0.076483	0	19	91				
MYO1F	4542	broad.mit.edu	37	19	8617036	8617036	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr19:8617036C>G	uc002mkg.2	-	7	631	c.517G>C	c.(517-519)GAG>CAG	p.E173Q	MYO1F_uc002mkh.2_Missense_Mutation_p.E173Q|MYO1F_uc010xkf.1_Missense_Mutation_p.E173Q	NM_012335	NP_036467	O00160	MYO1F_HUMAN	myosin IF	173	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(1)	3						AACTGGATCTCAAAGTACTTG	0.557		NaN											0	0	0	0.058154	0	7	125				
LDLR	3949	broad.mit.edu	37	19	11213402	11213402	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr19:11213402C>T	uc002mqk.3	+	3	421	c.253C>T	c.(253-255)CAG>TAG	p.Q85*	LDLR_uc010xlk.1_Nonsense_Mutation_p.Q85*|LDLR_uc010xll.1_Intron|LDLR_uc010xlm.1_Intron|LDLR_uc010xln.1_Nonsense_Mutation_p.Q85*|LDLR_uc010xlo.1_Nonsense_Mutation_p.Q85*	NM_000527	NP_000518	P01130	LDLR_HUMAN	low density lipoprotein receptor precursor	85	Extracellular (Potential).|LDL-receptor class A 2.				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)	CTGCATTCCTCAGTTCTGGAG	0.547		NaN											0	0	0	0.041601	0	27	125				
ZFP30	22835	broad.mit.edu	37	19	38126225	38126225	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr19:38126225C>T	uc002ogv.1	-	6	1733	c.1217G>A	c.(1216-1218)GGA>GAA	p.G406E	ZFP30_uc002ogw.1_Missense_Mutation_p.G406E|ZFP30_uc002ogx.1_Missense_Mutation_p.G406E|ZFP30_uc010xtt.1_Missense_Mutation_p.G405E	NM_014898	NP_055713	Q9Y2G7	ZFP30_HUMAN	zinc finger protein 30 homolog	406					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGGTTTCTCTCCAATGTGAAT	0.388		NaN											0	0	0	0.069234	0	8	47				
ZNF781	163115	broad.mit.edu	37	19	38160986	38160986	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr19:38160986G>C	uc002ogy.2	-	4	806	c.64C>G	c.(64-66)CAA>GAA	p.Q22E	ZNF781_uc002ogz.2_Missense_Mutation_p.Q17E	NM_152605	NP_689818	Q8N8C0	ZN781_HUMAN	zinc finger protein 781	22					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						ATTTGATATTGAGTTAGTTGA	0.343		NaN											0	0	0	0.043863	0	17	123				
ZNF233	353355	broad.mit.edu	37	19	44778410	44778410	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr19:44778410G>C	uc002oyz.1	+	5	1724	c.1597G>C	c.(1597-1599)GAG>CAG	p.E533Q	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF233_uc002oyy.1_Missense_Mutation_p.E348Q	NM_181756	NP_861421	A6NK53	ZN233_HUMAN	zinc finger protein 233	533					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)	2		Prostate(69;0.0435)|all_neural(266;0.226)				TCACAAAGGAGAGAAGCCATA	0.468		NaN											0	0	0	0.069234	0	8	59				
ZNF233	353355	broad.mit.edu	37	19	44778580	44778580	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr19:44778580G>C	uc002oyz.1	+	5	1894	c.1767G>C	c.(1765-1767)GAG>GAC	p.E589D	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF233_uc002oyy.1_Missense_Mutation_p.E404D	NM_181756	NP_861421	A6NK53	ZN233_HUMAN	zinc finger protein 233	589					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)	2		Prostate(69;0.0435)|all_neural(266;0.226)				ACACAGGAGAGAAACCATACA	0.438		NaN											0	0	0	0.004672	0	3	103				
MYH14	79784	broad.mit.edu	37	19	50764812	50764812	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr19:50764812G>T	uc002prr.1	+	19	2429	c.2382G>T	c.(2380-2382)CAG>CAT	p.Q794H	MYH14_uc010enu.1_Missense_Mutation_p.Q835H|MYH14_uc002prq.1_Missense_Mutation_p.Q802H	NM_024729	NP_079005	Q7Z406	MYH14_HUMAN	myosin, heavy chain 14 isoform 2	794	Myosin head-like.				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)	1		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		TCCTGGCCCAGCTGGAAGAGG	0.647		NaN											1	0	2.0095e-06	0.02938	2.18287e-06	6	37				
ZIK1	284307	broad.mit.edu	37	19	58101415	58101415	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr19:58101415C>T	uc002qpg.2	+	4	333	c.236C>T	c.(235-237)TCT>TTT	p.S79F	ZNF547_uc002qpm.3_Intron|ZIK1_uc002qph.2_Missense_Mutation_p.S24F|ZIK1_uc002qpi.2_Missense_Mutation_p.S66F|ZIK1_uc002qpj.2_5'UTR	NM_001010879	NP_001010879	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein	79	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GAGACACCTTCTGACCAGAAT	0.458		NaN											0	0	0	0.047766	0	8	45				
GRHL1	29841	broad.mit.edu	37	2	10136044	10136044	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:10136044G>A	uc002raa.2	+	13	1708	c.1537G>A	c.(1537-1539)GAC>AAC	p.D513N	GRHL1_uc002rab.2_RNA|GRHL1_uc002rad.2_Missense_Mutation_p.D324N|GRHL1_uc010yjb.1_Missense_Mutation_p.D362N	NM_198182	NP_937825	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1	513					cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			pancreas(1)|skin(1)	2	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		CACAGAAGATGACTTTGCTGT	0.458		NaN											0	0	0	0.064281	0	30	202				
PLB1	151056	broad.mit.edu	37	2	28801013	28801013	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:28801013G>A	uc002rmb.1	+	22	1473	c.1473G>A	c.(1471-1473)ATG>ATA	p.M491I	PLB1_uc010ezj.1_Missense_Mutation_p.M502I|PLB1_uc002rmc.2_Missense_Mutation_p.M179I|PLB1_uc002rmd.1_Missense_Mutation_p.M1I	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	phospholipase B1 precursor	491	4 X 308-326 AA approximate repeats.|2.|Extracellular (Potential).				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			ovary(4)|large_intestine(2)|skin(2)|breast(1)	9	Acute lymphoblastic leukemia(172;0.155)					TGGACCTGATGAAGAATGACA	0.582		NaN											0	0	0	0.014758	0	4	58				
XDH	7498	broad.mit.edu	37	2	31572693	31572693	+	Missense_Mutation	SNP	C	C	T	rs138396004		TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:31572693C>T	uc002rnv.1	-	26	2907	c.2828G>A	c.(2827-2829)CGG>CAG	p.R943Q		NM_000379	NP_000370	P47989	XDH_HUMAN	xanthine dehydrogenase	943					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			skin(4)|breast(2)|ovary(1)|central_nervous_system(1)	8	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GTTTTTTCTCCGCACCTTCCC	0.542		NaN											0	0	0	0.014758	0	4	54				
DYNC2LI1	51626	broad.mit.edu	37	2	44036863	44036863	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:44036863G>C	uc002rtk.2	+	13	1109	c.1013G>C	c.(1012-1014)AGA>ACA	p.R338T	DYNC2LI1_uc002rtl.2_Missense_Mutation_p.R339T|DYNC2LI1_uc010ynz.1_Missense_Mutation_p.R212T	NM_016008	NP_057092	Q8TCX1	DC2L1_HUMAN	dynein 2 light intermediate chain isoform 1	338						apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium	motor activity			ovary(1)	1		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CAGTACAAAAGAAGTTCTTCC	0.284		NaN											0	0	0	0.058154	0	5	22				
DYNC2LI1	51626	broad.mit.edu	37	2	44036898	44036898	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:44036898G>C	uc002rtk.2	+	13	1144	c.1048G>C	c.(1048-1050)GAT>CAT	p.D350H	DYNC2LI1_uc002rtl.2_Missense_Mutation_p.D351H|DYNC2LI1_uc010ynz.1_Missense_Mutation_p.D224H	NM_016008	NP_057092	Q8TCX1	DC2L1_HUMAN	dynein 2 light intermediate chain isoform 1	350						apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium	motor activity			ovary(1)	1		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				AATCGAGCTTGATTCTTGAAC	0.269		NaN											0	0	0	0.02938	0	3	13				
DYNC2LI1	51626	broad.mit.edu	37	2	44036905	44036905	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:44036905G>A	uc002rtk.2	+	13	1151	c.1055G>A	c.(1054-1056)TGA>TAA	p.*352*	DYNC2LI1_uc002rtl.2_Silent_p.*353*|DYNC2LI1_uc010ynz.1_Silent_p.*226*	NM_016008	NP_057092	Q8TCX1	DC2L1_HUMAN	dynein 2 light intermediate chain isoform 1	352						apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium	motor activity			ovary(1)	1		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CTTGATTCTTGAACCTATTTC	0.274		NaN											0	0	0	0.02938	0	4	13				
ABCG5	64240	broad.mit.edu	37	2	44040419	44040419	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:44040419G>A	uc002rtn.2	-	13	1932	c.1792C>T	c.(1792-1794)CCA>TCA	p.P598S	ABCG5_uc002rtm.2_Missense_Mutation_p.P203S|ABCG5_uc002rto.2_Missense_Mutation_p.P427S|ABCG5_uc002rtp.2_Missense_Mutation_p.P203S	NM_022436	NP_071881	Q9H222	ABCG5_HUMAN	ATP-binding cassette sub-family G member 5	598	Extracellular (Potential).|ABC transmembrane type-2.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			ovary(1)|skin(1)	2		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GCACACATTGGATTAGTTGTC	0.338		NaN											0	0	0	0.080935	0	9	29				
SPTBN1	6711	broad.mit.edu	37	2	54876994	54876994	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:54876994G>A	uc002rxu.2	+	26	5694	c.5445G>A	c.(5443-5445)AAG>AAA	p.K1815K	SPTBN1_uc002rxx.2_Silent_p.K1802K|SPTBN1_uc002rxy.2_5'Flank	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1 isoform 1	1815	Interaction with ANK2.|Spectrin 15.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8			Lung(47;0.24)			ACGATGCCAAGGAGATCTTTG	0.493		NaN											0	0	0	0.080935	0	11	51				
RAB11FIP5	26056	broad.mit.edu	37	2	73315528	73315528	+	Silent	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:73315528C>G	uc002siu.3	-	3	1459	c.1218G>C	c.(1216-1218)CTG>CTC	p.L406L	RAB11FIP5_uc002sit.3_Silent_p.L328L	NM_015470	NP_056285	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	406					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding				0						CCTGAGCACTCAGCTCCTCCT	0.657		NaN											0	0	0	0.028581	0	14	53				
VWA3B	200403	broad.mit.edu	37	2	98744726	98744726	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:98744726G>A	uc002syo.2	+	6	991	c.727G>A	c.(727-729)GTG>ATG	p.V243M	VWA3B_uc010yvh.1_Missense_Mutation_p.V93M|VWA3B_uc002syj.2_RNA|VWA3B_uc002syk.1_RNA|VWA3B_uc002syl.1_Intron|VWA3B_uc002sym.2_Missense_Mutation_p.V243M|VWA3B_uc002syn.1_RNA	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	243										ovary(3)|large_intestine(2)|skin(1)	6						CTACTTTGTGGTGGGGGATGT	0.498		NaN											0	0	0	0.045705	0	31	106				
TUBA3E	112714	broad.mit.edu	37	2	130951802	130951802	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:130951802C>T	uc002tqv.2	-	4	714	c.613G>A	c.(613-615)GAC>AAC	p.D205N		NM_207312	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	205					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			skin(1)	1	Colorectal(110;0.1)					GCTTCATTGTCGACCATGAAG	0.552		NaN											0	0	0	0.09319	0	9	62				
LOC150786	150786	broad.mit.edu	37	2	132120876	132120876	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:132120876C>G	uc002tsr.2	-	1	856	c.418G>C	c.(418-420)GAG>CAG	p.E140Q		NM_001077637	NP_001071105	Q53S08	Q53S08_HUMAN	RAB6C-like	140					protein transport|small GTPase mediated signal transduction		GTP binding				0				BRCA - Breast invasive adenocarcinoma(221;0.078)		CTCTCTCCCTCCTCAATTGAC	0.438		NaN											0	0	0	0.058154	0	9	231				
TUBA3D	113457	broad.mit.edu	37	2	132237879	132237879	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:132237879G>A	uc002tsu.3	+	4	720	c.613G>A	c.(613-615)GAC>AAC	p.D205N		NM_080386	NP_525125	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	205					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity				0				BRCA - Breast invasive adenocarcinoma(221;0.13)		CTTCATGGTCGACAATGAAGC	0.557		NaN											0	0	0	0.055883	0	8	130				
SCN1A	6323	broad.mit.edu	37	2	166848189	166848189	+	Missense_Mutation	SNP	C	C	A	rs121918815		TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:166848189C>A	uc010zcz.1	-	26	5581	c.5563G>T	c.(5563-5565)GAT>TAT	p.D1855Y		NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	1866						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AATAAGATATCAAGACAGTGG	0.483		NaN											1	0	2.17888e-05	0.058154	2.3303e-05	10	79				
PHOSPHO2	493911	broad.mit.edu	37	2	170557854	170557854	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:170557854C>T	uc002ufg.2	+	4	761	c.373C>T	c.(373-375)CCA>TCA	p.P125S	KLHL23_uc002ufh.1_Intron	NM_001008489	NP_001008489	Q8TCD6	PHOP2_HUMAN	phosphatase, orphan 2	125							metal ion binding|pyridoxal phosphatase activity			skin(1)	1						GTTTACAAATCCAGCAGCTTT	0.323		NaN											0	0	0	0.02938	0	6	34				
GAD1	2571	broad.mit.edu	37	2	171710417	171710417	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:171710417G>C	uc002ugi.2	+	14	1720	c.1298G>C	c.(1297-1299)GGA>GCA	p.G433A	GAD1_uc010fqc.2_Missense_Mutation_p.G52A	NM_000817	NP_000808	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 isoform GAD67	433					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			ovary(1)	1					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	ATGTGTGCAGGATACCTCTTC	0.483		NaN											0	0	0	0.038147	0	6	120				
TTN	7273	broad.mit.edu	37	2	179575377	179575377	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:179575377G>A	uc010zfg.1	-	95	24939	c.24715C>T	c.(24715-24717)CAG>TAG	p.Q8239*	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Nonsense_Mutation_p.Q4900*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	9166							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)			ATATTCAGCTGAGCTGTGCAA	0.398		NaN											0	0	0	0.080935	0	10	110				
FRZB	2487	broad.mit.edu	37	2	183703267	183703267	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:183703267G>C	uc002upa.1	-	4	885	c.667C>G	c.(667-669)CTA>GTA	p.L223V		NM_001463	NP_001454	Q92765	SFRP3_HUMAN	frizzled-related protein precursor	223	NTR.				brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			ovary(2)|lung(1)|central_nervous_system(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			GAGGACTTTAGAATCTCCTTC	0.433		NaN											0	0	0	0.069288	0	21	99				
COL5A2	1290	broad.mit.edu	37	2	189909924	189909924	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:189909924G>C	uc002uqk.2	-	47	3619	c.3344C>G	c.(3343-3345)GCT>GGT	p.A1115G	COL5A2_uc010frx.2_Missense_Mutation_p.A691G	NM_000393	NP_000384	P05997	CO5A2_HUMAN	alpha 2 type V collagen preproprotein	1115					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			ACGTTTCCCAGCTCGACCAGG	0.299		NaN											0	0	0	0.047766	0	5	27				
ORMDL1	94101	broad.mit.edu	37	2	190640311	190640311	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:190640311G>A	uc002urb.3	-	2	1093	c.306C>T	c.(304-306)TTC>TTT	p.F102F	ORMDL1_uc002urc.3_Silent_p.F102F|ORMDL1_uc002urd.3_Silent_p.F102F|ORMDL1_uc002ure.3_Silent_p.F102F|ORMDL1_uc002urf.3_Silent_p.F102F	NM_016467	NP_057551	Q9P0S3	ORML1_HUMAN	ORM1-like 1	102	Helical; (Potential).				ceramide metabolic process	endoplasmic reticulum membrane|integral to membrane					0			OV - Ovarian serous cystadenocarcinoma(117;0.00177)|Epithelial(96;0.0317)|all cancers(119;0.0889)			GAGAAATTGTGAAAAACTTCC	0.383		NaN											0	0	0	0.014758	0	4	34				
SGOL2	151246	broad.mit.edu	37	2	201400832	201400832	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:201400832G>C	uc002uvw.2	+	4	467	c.354G>C	c.(352-354)TTG>TTC	p.L118F	SGOL2_uc002uvv.3_Missense_Mutation_p.L118F|SGOL2_uc010zhd.1_Missense_Mutation_p.L118F|SGOL2_uc010zhe.1_Missense_Mutation_p.L118F	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN	shugoshin-like 2 isoform 1	118					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			ovary(2)|skin(2)	4						ACAATAACTTGATAACTGCAA	0.294		NaN											0	0	0	0.038147	0	8	82				
GIGYF2	26058	broad.mit.edu	37	2	233655998	233655998	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:233655998C>A	uc002vti.3	+	14	1461	c.1124C>A	c.(1123-1125)TCA>TAA	p.S375*	GIGYF2_uc010zmj.1_Nonsense_Mutation_p.S375*|GIGYF2_uc002vtg.2_Nonsense_Mutation_p.S369*|GIGYF2_uc002vtj.3_Nonsense_Mutation_p.S396*|GIGYF2_uc002vtk.3_Nonsense_Mutation_p.S375*|GIGYF2_uc002vth.3_Nonsense_Mutation_p.S369*|GIGYF2_uc010zmk.1_RNA|GIGYF2_uc010zml.1_Nonsense_Mutation_p.S206*	NM_015575	NP_056390	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2 isoform b	375					cell death		protein binding			ovary(4)|central_nervous_system(3)	7		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		CAGACCTCATCATCATCTGCT	0.428		NaN											1	0	0.00074312	0.038395	0.000773851	14	62				
TBC1D20	128637	broad.mit.edu	37	20	422526	422526	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr20:422526C>A	uc002wds.2	-	4	637	c.499G>T	c.(499-501)GAA>TAA	p.E167*	TBC1D20_uc002wdv.2_5'UTR|TBC1D20_uc002wdt.2_RNA|TBC1D20_uc002wdu.2_RNA	NM_144628	NP_653229	Q96BZ9	TBC20_HUMAN	TBC1 domain family, member 20	167	Rab-GAP TBC.				interspecies interaction between organisms	integral to membrane|intracellular	Rab GTPase activator activity			central_nervous_system(1)	1		all_epithelial(17;0.228)|Breast(17;0.231)				GATAATTTTTCTACCAGGGAT	0.537		NaN											1	0	1.33987e-11	0.069234	1.51487e-11	6	92				
SLC4A11	83959	broad.mit.edu	37	20	3211823	3211823	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr20:3211823G>T	uc002wig.2	-	8	1110	c.1062C>A	c.(1060-1062)TTC>TTA	p.F354L	SLC4A11_uc010zqe.1_Missense_Mutation_p.F381L|SLC4A11_uc002wih.2_RNA|SLC4A11_uc010zqf.1_Missense_Mutation_p.F338L	NM_032034	NP_114423	Q8NBS3	S4A11_HUMAN	solute carrier family 4 member 11	354	Cytoplasmic (Potential).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			ovary(1)	1						GGTACAAGGGGAACCTGCGTG	0.602		NaN											1	0	1.5739e-10	0.028581	1.77223e-10	13	128				
GGTLC1	92086	broad.mit.edu	37	20	23966391	23966391	+	Silent	SNP	G	G	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr20:23966391G>T	uc002wts.2	-	5	577	c.444C>A	c.(442-444)GGC>GGA	p.G148G	GGTLC1_uc002wtu.2_Silent_p.G148G	NM_178312	NP_842564	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	148							gamma-glutamyltransferase activity			ovary(1)	1						TCACGTCATAGCCGAACCAGA	0.612		NaN											1	0	4.45325e-31	0.048971	5.1613e-31	55	129				
TTLL9	164395	broad.mit.edu	37	20	30525290	30525290	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr20:30525290C>A	uc010gdx.1	+	13	1349	c.1096C>A	c.(1096-1098)CAT>AAT	p.H366N	TTLL9_uc002wwy.1_RNA|TTLL9_uc002wwz.1_RNA|TTLL9_uc002wxa.1_RNA|TTLL9_uc002wxb.1_RNA|TTLL9_uc010zto.1_RNA|TTLL9_uc002wxc.2_Missense_Mutation_p.H268N|TTLL9_uc010ztp.1_RNA|TTLL9_uc010ztq.1_RNA	NM_001008409	NP_001008409	Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	366	TTL.				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			ovary(2)	2			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AGACACCCTGCATGTTGTGGA	0.567		NaN											1	0	5.50884e-06	0.09319	5.93754e-06	11	40				
MYH7B	57644	broad.mit.edu	37	20	33586326	33586326	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr20:33586326G>C	uc002xbi.1	+	32	4105	c.4013G>C	c.(4012-4014)CGC>CCC	p.R1338P		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	myosin, heavy polypeptide 7B, cardiac muscle,	1296	Potential.					membrane|myosin filament	actin binding|ATP binding|motor activity			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GAGCTGAGTCGCCTGCTAGAG	0.642		NaN											0	0	0	0.014758	0	4	43				
BPI	671	broad.mit.edu	37	20	36959492	36959492	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr20:36959492G>A	uc002xib.2	+	12	1346	c.1284G>A	c.(1282-1284)CCG>CCA	p.P428P		NM_001725	NP_001716	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	428					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			ovary(4)	4		Myeloproliferative disorder(115;0.00878)				GCCCCTTCCCGGTGAGTCTGA	0.572		NaN											0	0	0	0.047766	0	9	95				
RALGAPB	57148	broad.mit.edu	37	20	37182516	37182516	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr20:37182516G>C	uc002xiw.2	+	22	3426	c.3169G>C	c.(3169-3171)GAG>CAG	p.E1057Q	RALGAPB_uc002xix.2_Missense_Mutation_p.E1053Q|RALGAPB_uc002xiy.1_Intron|RALGAPB_uc002xiz.2_Missense_Mutation_p.E835Q	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit	1057					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			pancreas(1)|skin(1)	2						ACAGTTAGAAGAGAGACACGA	0.313		NaN											0	0	0	0.038147	0	7	20				
RALGAPB	57148	broad.mit.edu	37	20	37182716	37182716	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr20:37182716G>A	uc002xiw.2	+	22	3626	c.3369G>A	c.(3367-3369)CTG>CTA	p.L1123L	RALGAPB_uc002xix.2_Silent_p.L1119L|RALGAPB_uc002xiy.1_Intron|RALGAPB_uc002xiz.2_Silent_p.L901L	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit	1123					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			pancreas(1)|skin(1)	2						TAGAAGCACTGAAGGTAATTT	0.383		NaN											0	0	0	0.041601	0	25	69				
RBPJL	11317	broad.mit.edu	37	20	43940280	43940280	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr20:43940280G>A	uc002xns.2	+	4	381	c.309G>A	c.(307-309)GTG>GTA	p.V103V	RBPJL_uc002xnt.2_Silent_p.V103V	NM_014276	NP_055091	Q9UBG7	RBPJL_HUMAN	recombining binding protein L	103					signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				GCTGGAGGGTGAAGCCAGGGC	0.642		NaN									OREG0025979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.030593	0	26	37				
ADRM1	11047	broad.mit.edu	37	20	60878630	60878630	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr20:60878630G>A	uc002ycn.2	+	2	86	c.6G>A	c.(4-6)ACG>ACA	p.T2T	ADRM1_uc011aai.1_Silent_p.T2T|ADRM1_uc002yco.2_Silent_p.T2T|ADRM1_uc002ycp.1_5'Flank	NM_007002	NP_008933	Q16186	ADRM1_HUMAN	adhesion regulating molecule 1 precursor	2	Interaction with PSMD1.				proteasome assembly|transcription elongation from RNA polymerase II promoter	cytoplasm|integral to plasma membrane|membrane fraction|nucleus|proteasome complex	endopeptidase activator activity|protease binding|proteasome binding				0	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;2.51e-06)			TCAGGATGACGACCTCAGGCG	0.667		NaN											0	0	0	0.058154	0	9	108				
TIAM1	7074	broad.mit.edu	37	21	32617837	32617837	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr21:32617837G>A	uc002yow.1	-	7	2023	c.1551C>T	c.(1549-1551)CTC>CTT	p.L517L	TIAM1_uc011adk.1_Silent_p.L517L|TIAM1_uc011adl.1_Silent_p.L517L|TIAM1_uc002yox.1_Silent_p.L125L	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	517	PH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						GGGAATTGCTGAGGCAGAAGA	0.522		NaN											0	0	0	0.09319	0	11	32				
PCNT	5116	broad.mit.edu	37	21	47850003	47850003	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr21:47850003G>A	uc002zji.3	+	36	7877	c.7770G>A	c.(7768-7770)GAG>GAA	p.E2590E	PCNT_uc002zjj.2_Silent_p.E2472E	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	2590	Potential.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					AAGAGCAAGAGAAGGCAAACA	0.512		NaN											0	0	0	0.09319	0	11	37				
PCNT	5116	broad.mit.edu	37	21	47851509	47851509	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr21:47851509G>A	uc002zji.3	+	38	8238	c.8131G>A	c.(8131-8133)GAG>AAG	p.E2711K	PCNT_uc002zjj.2_Missense_Mutation_p.E2593K	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	2711	Potential.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					ACTGAAACACGAGCAGACGGC	0.597		NaN											0	0	0	0.09319	0	12	55				
PCNT	5116	broad.mit.edu	37	21	47851760	47851760	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr21:47851760G>A	uc002zji.3	+	38	8489	c.8382G>A	c.(8380-8382)CTG>CTA	p.L2794L	PCNT_uc002zjj.2_Silent_p.L2676L	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	2794	Potential.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					TGCAGAAGCTGAAGGAGGAGA	0.612		NaN											0	0	0	0.069234	0	7	35				
SLC25A1	6576	broad.mit.edu	37	22	19164697	19164697	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr22:19164697C>G	uc002zoz.2	-	5	577	c.462G>C	c.(460-462)CAG>CAC	p.Q154H	SLC25A1_uc002zoy.2_Missense_Mutation_p.Q51H|SLC25A1_uc002zpa.2_Missense_Mutation_p.Q102H	NM_005984	NP_005975	P53007	TXTP_HUMAN	solute carrier family 25 (mitochondrial carrier;	154	Solcar 2.				gluconeogenesis|long-chain fatty-acyl-CoA biosynthetic process|mitochondrial citrate transport|triglyceride biosynthetic process	integral to membrane|mitochondrial inner membrane	citrate transmembrane transporter activity|protein binding				0	Colorectal(54;0.0993)	all_lung(157;9.94e-09)		Lung(27;0.124)		TTGGGGAGGTCTGGTCGTGGA	0.602		NaN											0	0	0	0.105934	0	12	33				
MTMR3	8897	broad.mit.edu	37	22	30403279	30403279	+	Missense_Mutation	SNP	A	A	G	rs138787389	byFrequency	TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr22:30403279A>G	uc003agv.3	+	10	1176	c.848A>G	c.(847-849)AAT>AGT	p.N283S	MTMR3_uc003agu.3_Missense_Mutation_p.N283S|MTMR3_uc003agw.3_Missense_Mutation_p.N283S	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	myotubularin-related protein 3 isoform c	283	Myotubularin phosphatase.				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|ovary(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			GACTTTCCCAATGGGGGAGAC	0.493		NaN											0	0	0	0.105934	0	10	42				
OSM	5008	broad.mit.edu	37	22	30659990	30659990	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr22:30659990T>C	uc003ahb.2	-	3	693	c.641A>G	c.(640-642)GAG>GGG	p.E214G		NM_020530	NP_065391	P13725	ONCM_HUMAN	oncostatin M precursor	214					cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of MAPKKK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth	extracellular space|oncostatin-M receptor complex	cytokine activity|growth factor activity|oncostatin-M receptor binding			skin(1)	1			Epithelial(10;0.206)			GTTCGGGCTCTCCCCCCACTT	0.642		NaN											0	0	0	0.009096	0	4	66				
BRD1	23774	broad.mit.edu	37	22	50192221	50192221	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr22:50192221G>A	uc003biv.2	-	4	2257	c.1770C>T	c.(1768-1770)CCC>CCT	p.P590P	BRD1_uc011arf.1_Silent_p.P185P|BRD1_uc011arg.1_Silent_p.P644P|BRD1_uc011arh.1_Silent_p.P590P|BRD1_uc003biu.3_Silent_p.P590P	NM_014577	NP_055392	O95696	BRD1_HUMAN	bromodomain containing protein 1	590	Bromo.				histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			pancreas(1)	1		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TCAGACTCACGGGCTGCGCAA	0.622		NaN											0	0	0	0.0333	0	14	70				
SETD5	55209	broad.mit.edu	37	3	9482170	9482170	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr3:9482170G>A	uc003brt.2	+	8	1033	c.598G>A	c.(598-600)GAG>AAG	p.E200K	SETD5_uc003brs.1_Missense_Mutation_p.E181K|SETD5_uc003bru.2_Missense_Mutation_p.E102K|SETD5_uc003brv.2_Missense_Mutation_p.E89K|SETD5_uc010hck.2_5'Flank|SETD5_uc003brw.1_5'Flank|SETD5_uc003brx.2_5'Flank	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN	SET domain containing 5	200										ovary(2)	2	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		GAATTTAGATGAGAATACAAC	0.433		NaN											0	0	0	0.02938	0	7	18				
WNT7A	7476	broad.mit.edu	37	3	13916516	13916516	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr3:13916516G>A	uc003bye.1	-	2	531	c.226C>T	c.(226-228)CAG>TAG	p.Q76*		NM_004625	NP_004616	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family,	76					activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			ovary(2)|breast(1)	3						TTGCGGAACTGAAACTGACAC	0.617		NaN											0	0	0	0.058154	0	9	59				
ZNF660	285349	broad.mit.edu	37	3	44636265	44636265	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr3:44636265G>C	uc003cnl.1	+	3	913	c.580G>C	c.(580-582)GAG>CAG	p.E194Q		NM_173658	NP_775929	Q6AZW8	ZN660_HUMAN	zinc finger protein 660	194	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		CAAATGTAAGGAGTGTGGGAA	0.393		NaN											0	0	0	0.020292	0	14	56				
TGM4	7047	broad.mit.edu	37	3	44943347	44943347	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr3:44943347G>C	uc003coc.3	+	8	968	c.895G>C	c.(895-897)GAA>CAA	p.E299Q		NM_003241	NP_003232	P49221	TGM4_HUMAN	transglutaminase 4 (prostate)	299					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	TCACGACACAGAAAGGAACCT	0.542		NaN											0	0	0	0.080935	0	11	57				
AMIGO3	386724	broad.mit.edu	37	3	49756011	49756011	+	Silent	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr3:49756011C>T	uc003cxj.2	-	1	1228	c.888G>A	c.(886-888)CTG>CTA	p.L296L	RNF123_uc003cxh.2_Intron|RNF123_uc003cxi.2_Intron	NM_198722	NP_942015	Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	296	Extracellular (Potential).|Ig-like C2-type.				heterophilic cell-cell adhesion	integral to membrane				pancreas(1)	1				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AGTAAAGCCTCAGGGACCGAC	0.652		NaN											0	0	0	0.014758	0	5	22				
AMIGO3	386724	broad.mit.edu	37	3	49756493	49756494	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr3:49756493_49756494CC>TT	uc003cxj.2	-	1	745_746	c.405_406GG>AA	c.(403-408)CTGGAG>CTAAAG	p.E136K	RNF123_uc003cxh.2_Intron|RNF123_uc003cxi.2_Intron	NM_198722	NP_942015	Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	136	Extracellular (Potential).|LRR 4.				heterophilic cell-cell adhesion	integral to membrane				pancreas(1)	1				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AGCAGCTTCTCCAGCGCCCCCA	0.634		NaN									OREG0015572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.004672	0	25	85				
PROS1	5627	broad.mit.edu	37	3	93611862	93611862	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr3:93611862C>A	uc003drb.3	-	10	1411	c.1070G>T	c.(1069-1071)GGA>GTA	p.G357V	PROS1_uc010hoo.2_Missense_Mutation_p.G226V|PROS1_uc003dqz.3_Missense_Mutation_p.G226V	NM_000313	NP_000304	P07225	PROS_HUMAN	protein S, alpha preproprotein	357	Laminin G-like 1.		G -> R (in PROS1D).		leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			large_intestine(1)	1					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	TTCAATCTTTCCACCACGAAG	0.403		NaN											1	0	0.00198382	0.02938	0.00205044	7	66				
C3orf26	84319	broad.mit.edu	37	3	99881261	99881261	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr3:99881261G>A	uc003dtl.2	+	4	483	c.340G>A	c.(340-342)GAA>AAA	p.E114K		NM_032359	NP_115735	Q9BQ75	CC026_HUMAN	hypothetical protein LOC84319	114							ATP binding|ATP-dependent helicase activity|nucleic acid binding			skin(1)	1						TGAATTAGAAGAACTGAACCT	0.408		NaN											0	0	0	0.047766	0	7	30				
HHLA2	11148	broad.mit.edu	37	3	108076964	108076964	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr3:108076964C>G	uc003dwy.3	+	6	1126	c.959C>G	c.(958-960)TCT>TGT	p.S320C	HHLA2_uc011bhl.1_Missense_Mutation_p.S256C|HHLA2_uc010hpu.2_Missense_Mutation_p.S320C|HHLA2_uc003dwz.2_Missense_Mutation_p.S320C	NM_007072	NP_009003	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2 precursor	320	Ig-like V-type 2.					integral to membrane				ovary(1)	1						TGCAATATTTCTTCGGATGAA	0.378		NaN											0	0	0	0.004672	0	3	63				
CASR	846	broad.mit.edu	37	3	121980624	121980624	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr3:121980624G>A	uc003eev.3	+	4	1114	c.742G>A	c.(742-744)GAT>AAT	p.D248N	CASR_uc003eew.3_Missense_Mutation_p.D248N	NM_000388	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor precursor	248	Extracellular (Potential).				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CCAGTACTCTGATGAGGAAGA	0.502		NaN											0	0	0	0.038147	0	5	207				
SEMA5B	54437	broad.mit.edu	37	3	122667459	122667459	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr3:122667459G>A	uc003efz.1	-	3	526	c.222C>T	c.(220-222)CTC>CTT	p.L74L	SEMA5B_uc011bju.1_Silent_p.L16L|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Silent_p.L74L|SEMA5B_uc010hro.1_Silent_p.L16L|SEMA5B_uc010hrp.1_RNA	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	semaphorin 5B isoform 1	74	Extracellular (Potential).				cell differentiation|nervous system development	integral to membrane	receptor activity			ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7				GBM - Glioblastoma multiforme(114;0.0367)		CCAGCAGTGTGAGGCTGGGCA	0.647		NaN											0	0	0	0.069234	0	10	29				
PLXND1	23129	broad.mit.edu	37	3	129290522	129290522	+	Silent	SNP	G	G	C	rs111780083		TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr3:129290522G>C	uc003emx.2	-	16	3343	c.3243C>G	c.(3241-3243)GTC>GTG	p.V1081V		NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1 precursor	1081	Extracellular (Potential).|IPT/TIG 3.				axon guidance	integral to membrane|intracellular|plasma membrane				large_intestine(1)	1						AGTCTCACCTGACAGGGCTGC	0.657		NaN											0	0	0	0.076483	0	19	95				
DBR1	51163	broad.mit.edu	37	3	137888979	137888979	+	Silent	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr3:137888979C>G	uc003erv.2	-	4	595	c.459G>C	c.(457-459)GTG>GTC	p.V153V	DBR1_uc003eru.2_Silent_p.V102V	NM_016216	NP_057300	Q9UK59	DBR1_HUMAN	debranching enzyme homolog 1	153						nucleus	metal ion binding|RNA lariat debranching enzyme activity				0						CAATATTTCTCACATGATATA	0.299		NaN											0	0	0	0.09319	0	12	77				
YEATS2	55689	broad.mit.edu	37	3	183442274	183442274	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr3:183442274C>T	uc003fly.2	+	6	800	c.605C>T	c.(604-606)TCA>TTA	p.S202L		NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	202					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			ovary(3)|large_intestine(1)	4	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GATGAGACTTCACGACTTTTT	0.343		NaN											0	0	0	0.021553	0	6	39				
MFSD10	10227	broad.mit.edu	37	4	2934873	2934873	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr4:2934873G>C	uc003gfw.2	-	3	646	c.332C>G	c.(331-333)TCT>TGT	p.S111C	MFSD10_uc003gfv.2_5'Flank|MFSD10_uc003gfx.2_5'UTR|MFSD10_uc003gfz.2_Missense_Mutation_p.S111C|MFSD10_uc003gfy.2_RNA|MFSD10_uc003gga.2_Missense_Mutation_p.S111C|MFSD10_uc003ggb.1_Missense_Mutation_p.S111C|MFSD10_uc003ggc.2_Missense_Mutation_p.S111C|C4orf10_uc003ggd.1_5'Flank|C4orf10_uc003gge.1_5'Flank|C4orf10_uc003ggg.1_5'Flank|C4orf10_uc003ggh.2_5'Flank	NM_001120	NP_001111	Q14728	MFS10_HUMAN	major facilitator superfamily domain containing	111					apoptosis	integral to membrane	tetracycline transporter activity				0				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CAAGCAGTCAGAGGTGGCCCC	0.632		NaN											0	0	0	0.038147	0	5	28				
MFSD10	10227	broad.mit.edu	37	4	2934901	2934901	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr4:2934901G>A	uc003gfw.2	-	3	618	c.304C>T	c.(304-306)CTG>TTG	p.L102L	MFSD10_uc003gfv.2_5'Flank|MFSD10_uc003gfx.2_5'UTR|MFSD10_uc003gfz.2_Silent_p.L102L|MFSD10_uc003gfy.2_RNA|MFSD10_uc003gga.2_Silent_p.L102L|MFSD10_uc003ggb.1_Silent_p.L102L|MFSD10_uc003ggc.2_Silent_p.L102L|C4orf10_uc003ggd.1_5'Flank|C4orf10_uc003gge.1_5'Flank|C4orf10_uc003ggg.1_5'Flank|C4orf10_uc003ggh.2_5'Flank	NM_001120	NP_001111	Q14728	MFS10_HUMAN	major facilitator superfamily domain containing	102	Helical; (Potential).				apoptosis	integral to membrane	tetracycline transporter activity				0				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GGCGCACACAGAAACTGCAGG	0.617		NaN											0	0	0	0.009096	0	3	31				
SHISA3	152573	broad.mit.edu	37	4	42403249	42403249	+	Silent	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr4:42403249G>C	uc003gwp.2	+	2	716	c.498G>C	c.(496-498)ACG>ACC	p.T166T		NM_001080505	NP_001073974	A0PJX4	SHSA3_HUMAN	shisa homolog 3 precursor	166	Cytoplasmic (Potential).				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane				ovary(1)|skin(1)	2						GCACAGCCACGAGCTCCAGCT	0.672		NaN											0	0	0	0.028581	0	16	116				
FAT4	79633	broad.mit.edu	37	4	126237764	126237764	+	Silent	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr4:126237764G>C	uc003ifj.3	+	1	198	c.198G>C	c.(196-198)ACG>ACC	p.T66T		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	66	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						CCATCCAGACGCGCCCCGGCT	0.647		NaN									OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.014758	0	4	30				
TAS2R1	50834	broad.mit.edu	37	5	9629539	9629539	+	Silent	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr5:9629539C>T	uc003jem.1	-	1	925	c.606G>A	c.(604-606)GGG>GGA	p.G202G		NM_019599	NP_062545	Q9NYW7	TA2R1_HUMAN	taste receptor T2R1	202	Cytoplasmic (Potential).				chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity			ovary(3)	3						GGGTGTGCCTCCCCAGAGAGA	0.502		NaN											0	0	0	0.069234	0	10	31				
UGT3A2	167127	broad.mit.edu	37	5	36049133	36049133	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr5:36049133C>G	uc003jjz.1	-	4	794	c.701G>C	c.(700-702)AGG>ACG	p.R234T	UGT3A2_uc011cos.1_Missense_Mutation_p.R200T|UGT3A2_uc011cot.1_Intron	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	234	Extracellular (Potential).					integral to membrane	glucuronosyltransferase activity			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAAAACTGGCCTAGAGCCTTC	0.418		NaN											0	0	0	0.0918	0	22	83				
UGT3A2	167127	broad.mit.edu	37	5	36049523	36049523	+	Splice_Site	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr5:36049523C>T	uc003jjz.1	-	4	405	c.312_splice	c.e4-1	p.R104_splice	UGT3A2_uc011cos.1_Splice_Site_p.R70_splice|UGT3A2_uc011cot.1_Intron	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2							integral to membrane	glucuronosyltransferase activity			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAATTTTCCTCTGTAAGAAAA	0.284		NaN											0	0	0	0.014758	0	5	22				
HCN1	348980	broad.mit.edu	37	5	45303768	45303768	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr5:45303768G>A	uc003jok.2	-	6	1576	c.1551C>T	c.(1549-1551)CAC>CAT	p.H517H		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	517	cAMP.|Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1						CAGCAACACCGTGTTGAATGA	0.388		NaN											0	0	0	0.02938	0	7	69				
ITGA2	3673	broad.mit.edu	37	5	52361774	52361774	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr5:52361774C>T	uc003joy.2	+	15	2053	c.1910C>T	c.(1909-1911)TCT>TTT	p.S637F	ITGA2_uc011cqa.1_RNA|ITGA2_uc011cqb.1_RNA|ITGA2_uc011cqc.1_Missense_Mutation_p.S561F|ITGA2_uc011cqd.1_RNA|ITGA2_uc011cqe.1_RNA	NM_002203	NP_002194	P17301	ITA2_HUMAN	integrin alpha 2 precursor	637	FG-GAP 7.|Extracellular (Potential).				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			lung(1)	1		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				ACCGATGTGTCTATTGGTGCC	0.458		NaN											0	0	0	0.108266	0	21	91				
APC	324	broad.mit.edu	37	5	112176224	112176224	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr5:112176224G>C	uc010jby.2	+	16	5313	c.4933G>C	c.(4933-4935)GAA>CAA	p.E1645Q	APC_uc011cvt.1_Missense_Mutation_p.E1627Q|APC_uc003kpz.3_Missense_Mutation_p.E1645Q|APC_uc003kpy.3_Missense_Mutation_p.E1645Q|APC_uc010jbz.2_Missense_Mutation_p.E1362Q|APC_uc010jca.2_Missense_Mutation_p.E945Q	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	1645	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.E1645Q(1)|p.K1192fs*3(1)|p.?(1)		large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GTATTGTGTTGAAGGGACACC	0.453		12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)			0	0	0	0.004672	0	3	73		Valid		
GRAMD3	65983	broad.mit.edu	37	5	125813438	125813438	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr5:125813438C>A	uc003ktu.2	+	6	971	c.541C>A	c.(541-543)CTA>ATA	p.L181I	GRAMD3_uc011cwt.1_Missense_Mutation_p.L196I|GRAMD3_uc011cwv.1_Missense_Mutation_p.L189I|GRAMD3_uc011cww.1_Missense_Mutation_p.L77I|GRAMD3_uc011cwx.1_RNA|GRAMD3_uc011cwy.1_Missense_Mutation_p.L72I|GRAMD3_uc011cwz.1_Missense_Mutation_p.L165I|GRAMD3_uc011cwu.1_Missense_Mutation_p.L165I	NM_023927	NP_076416	Q96HH9	GRAM3_HUMAN	GRAM domain containing 3 isoform 2	181										central_nervous_system(1)	1		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108)		AACTGCTCTTCTAGTGCCAAA	0.478		NaN											1	0	3.28513e-13	0.0918	3.76025e-13	21	68				
GDF9	2661	broad.mit.edu	37	5	132198223	132198223	+	Silent	SNP	T	T	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr5:132198223T>C	uc003kxz.1	-	2	675	c.423A>G	c.(421-423)CTA>CTG	p.L141L	GDF9_uc011cxj.1_Silent_p.L53L	NM_005260	NP_005251	O60383	GDF9_HUMAN	growth differentiation factor 9 precursor	141					female gamete generation|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			skin(1)	1		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCAGGTTAAATAGCAGTTCCA	0.383		NaN											0	0	0	0.069234	0	11	29				
SEC24A	10802	broad.mit.edu	37	5	134023941	134023941	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr5:134023941C>T	uc003kzs.2	+	11	1963	c.1675C>T	c.(1675-1677)CAG>TAG	p.Q559*	SEC24A_uc011cxu.1_Nonsense_Mutation_p.Q323*	NM_021982	NP_068817	O95486	SC24A_HUMAN	SEC24 related gene family, member A	559					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTACGGTCTTCAGGAAAGTCT	0.313		NaN											0	0	0	0.024245	0	13	41				
PCDHA2	56146	broad.mit.edu	37	5	140175188	140175188	+	Silent	SNP	G	G	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr5:140175188G>T	uc003lhd.2	+	1	745	c.639G>T	c.(637-639)GTG>GTT	p.V213V	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Silent_p.V213V|PCDHA2_uc011czy.1_Silent_p.V213V	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2 isoform 1 precursor	213	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTACTGGTGGCTACTGATG	0.428		NaN											1	0	7.92952e-12	0.0918	9.00196e-12	23	66				
PCDHGA9	56107	broad.mit.edu	37	5	140782758	140782758	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr5:140782758G>T	uc003lkh.1	+	1	239	c.239G>T	c.(238-240)CGC>CTC	p.R80L	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc011dax.1_Missense_Mutation_p.R80L	NM_018921	NP_061744	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9 isoform 1	80	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGAACCCGCGCAGCGGCACC	0.612		NaN											1	0	0.00307968	0.038147	0.00317127	8	37				
PCDHGA9	56107	broad.mit.edu	37	5	140782853	140782853	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr5:140782853G>C	uc003lkh.1	+	1	334	c.334G>C	c.(334-336)GAC>CAC	p.D112H	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc011dax.1_Missense_Mutation_p.D112H	NM_018921	NP_061744	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9 isoform 1	112	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGGTTGAAGACAGAGTGAA	0.507		NaN											0	0	0	0.049695	0	18	59				
SLIT3	6586	broad.mit.edu	37	5	168100246	168100246	+	Silent	SNP	T	T	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr5:168100246T>C	uc003mab.2	-	33	4197	c.3777A>G	c.(3775-3777)CCA>CCG	p.P1259P	SLIT3_uc010jjg.2_Silent_p.P1266P	NM_003062	NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 precursor	1259	Laminin G-like.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			ovary(3)|skin(1)	4	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCAGGCTCTTTGGAGTTCCTT	0.552		NaN											0	0	0	0.062417	0	19	60				
NSD1	64324	broad.mit.edu	37	5	176696618	176696618	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr5:176696618G>C	uc003mfr.3	+	16	5457	c.5319G>C	c.(5317-5319)GAG>GAC	p.E1773D	NSD1_uc003mft.3_Missense_Mutation_p.E1504D|NSD1_uc003mfs.1_Missense_Mutation_p.E1670D|NSD1_uc011dfx.1_Missense_Mutation_p.E1421D	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1773	PWWP 2.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			ovary(2)|kidney(1)	3	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GGCCAGCTGAGATCTGCCATC	0.433		NaN	T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)			0	0	0	0.004672	0	3	48		Valid		
COL23A1	91522	broad.mit.edu	37	5	177690246	177690246	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr5:177690246G>A	uc003mje.2	-	9	960	c.602C>T	c.(601-603)ACT>ATT	p.T201I	COL23A1_uc010jkt.2_Silent_p.L49L	NM_173465	NP_775736	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	201	Extracellular (Potential).|Collagen-like 1.|Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)|skin(1)	2	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		ATCTTTCCCAGTGTCGCCAGG	0.647		NaN											0	0	0	0.069234	0	7	27				
FOXF2	2295	broad.mit.edu	37	6	1390560	1390560	+	Silent	SNP	C	C	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:1390560C>A	uc003mtm.2	+	1	492	c.378C>A	c.(376-378)ATC>ATA	p.I126I	FOXF2_uc003mtn.2_Silent_p.I126I	NM_001452	NP_001443	Q12947	FOXF2_HUMAN	forkhead box F2	126	Fork-head.				epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding				0	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		TCAGCGAGATCTACCAGTTCC	0.647		NaN											1	0	5.18039e-06	0.038147	5.60535e-06	8	28				
FOXF2	2295	broad.mit.edu	37	6	1390569	1390569	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:1390569C>A	uc003mtm.2	+	1	501	c.387C>A	c.(385-387)TTC>TTA	p.F129L	FOXF2_uc003mtn.2_Missense_Mutation_p.F129L	NM_001452	NP_001443	Q12947	FOXF2_HUMAN	forkhead box F2	129	Fork-head.				epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding				0	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		TCTACCAGTTCCTGCAGGCGC	0.632		NaN											1	0	3.59834e-05	0.021553	3.81892e-05	6	29				
MAK	4117	broad.mit.edu	37	6	10796367	10796367	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:10796367T>G	uc003mzl.2	-	8	1236	c.1007A>C	c.(1006-1008)CAG>CCG	p.Q336P	SYCP2L_uc011dim.1_Intron|TMEM14B_uc010jos.1_Intron|MAK_uc010jot.2_RNA|MAK_uc010jou.2_RNA|MAK_uc003mzm.2_Missense_Mutation_p.Q336P|MAK_uc010jov.1_RNA	NM_005906	NP_005897	P20794	MAK_HUMAN	male germ cell-associated kinase	336	Glu/Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity			breast(2)|skin(1)	3	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				AGTTTTTGGCTGGGGTTGTCC	0.502		NaN											0	0	0	0.047766	0	9	77				
BTN3A3	10384	broad.mit.edu	37	6	26443857	26443857	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:26443857T>C	uc003nhz.2	+	3	235	c.55T>C	c.(55-57)TTC>CTC	p.F19L	BTN3A3_uc003nia.2_Intron|BTN3A3_uc011dkn.1_Intron	NM_006994	NP_008925	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3 isoform a	19						integral to membrane					0						TGTCTCCCTCTTCTTGGTCCA	0.428		NaN											0	0	0	0.021553	0	5	52				
OR14J1	442191	broad.mit.edu	37	6	29274561	29274561	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:29274561C>T	uc011dln.1	+	1	95	c.95C>T	c.(94-96)ACA>ATA	p.T32I		NM_030946	NP_112208	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 5, subfamily U member	32	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						TTTCTGGTGACATACCTGCTG	0.438		NaN											0	0	0	0.020292	0	12	71				
RDBP	7936	broad.mit.edu	37	6	31922347	31922347	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:31922347C>G	uc003nyk.2	-	7	931	c.727G>C	c.(727-729)GAG>CAG	p.E243Q	RDBP_uc011dot.1_Missense_Mutation_p.E213Q|RDBP_uc003nyl.1_Missense_Mutation_p.E183Q|RDBP_uc003nym.1_Missense_Mutation_p.E238Q	NM_002904	NP_002895	P18615	NELFE_HUMAN	RD RNA-binding protein	243	30 X 2 AA approximate tandem repeats of R-[DSNE].|30.				positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	mitochondrion|nucleoplasm	nucleotide binding|protein binding|RNA binding				0						AAAGGACCCtctcggtctcgg	0.239		NaN											0	0	0	0.058154	0	10	50				
RDBP	7936	broad.mit.edu	37	6	31922614	31922614	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:31922614C>G	uc003nyk.2	-	7	664	c.460G>C	c.(460-462)GAG>CAG	p.E154Q	RDBP_uc011dot.1_Intron|RDBP_uc003nyl.1_Missense_Mutation_p.E94Q|RDBP_uc003nym.1_Missense_Mutation_p.E149Q	NM_002904	NP_002895	P18615	NELFE_HUMAN	RD RNA-binding protein	154					positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	mitochondrion|nucleoplasm	nucleotide binding|protein binding|RNA binding				0						CCTGGGCCCTCTGCCTCTTCT	0.577		NaN											0	0	0	0.041601	0	22	133				
TNXB	7148	broad.mit.edu	37	6	32015617	32015617	+	Silent	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:32015617C>T	uc003nzl.2	-	30	10414	c.10212G>A	c.(10210-10212)CGG>CGA	p.R3404R	TNXB_uc003nzg.1_5'Flank|TNXB_uc003nzh.1_5'Flank	NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	3451	Fibronectin type-III 26.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						CTGTGACCTCCCGCTGGTTGG	0.602		NaN											0	0	0	0.009096	0	4	15				
TAPBP	6892	broad.mit.edu	37	6	33271748	33271748	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:33271748C>T	uc003odx.1	-	7	1490	c.1319G>A	c.(1318-1320)TGC>TAC	p.C440Y	TAPBP_uc010jus.1_Missense_Mutation_p.C458Y|TAPBP_uc003ody.2_3'UTR|TAPBP_uc003odz.2_Missense_Mutation_p.C440Y|TAPBP_uc010jut.1_Missense_Mutation_p.C353Y	NM_003190	NP_003181	O15533	TPSN_HUMAN	tapasin isoform 1 precursor	440	Cytoplasmic (Potential).				antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|MHC class I peptide loading complex|microsome	MHC class I protein binding|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|unfolded protein binding			ovary(1)	1						TGAATCCTTGCAGGTGGACAG	0.483		NaN											0	0	0	0.028581	0	14	83				
FANCE	2178	broad.mit.edu	37	6	35426107	35426107	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:35426107C>T	uc003oko.1	+	5	1188	c.1003C>T	c.(1003-1005)CAG>TAG	p.Q335*	FANCE_uc010jvw.1_Nonsense_Mutation_p.Q328*	NM_021922	NP_068741	Q9HB96	FANCE_HUMAN	Fanconi anemia, complementation group E	335	Interaction with FANCC.				DNA repair	nucleoplasm	protein binding			ovary(1)|lung(1)|skin(1)	3						GCAGCTCCCTCAGCTCTCAGA	0.602		NaN	N|F|S			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				0	0	0	0.048971	0	43	146				
SLC26A8	116369	broad.mit.edu	37	6	35923092	35923092	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:35923092G>C	uc003olm.2	-	17	2180	c.2069C>G	c.(2068-2070)TCA>TGA	p.S690*	SLC26A8_uc010jwa.2_RNA|SLC26A8_uc003olk.2_Nonsense_Mutation_p.S272*|SLC26A8_uc003oln.2_Nonsense_Mutation_p.S690*|SLC26A8_uc003oll.2_Nonsense_Mutation_p.S585*	NM_052961	NP_443193	Q96RN1	S26A8_HUMAN	solute carrier family 26, member 8 isoform a	690	Interaction with RACGAP1.|STAS.|Cytoplasmic (Potential).				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			ovary(2)	2						GCTGTTTCTTGATGAGTTATT	0.512		NaN											0	0	0	0.009096	0	4	60				
MAPK13	5603	broad.mit.edu	37	6	36098379	36098379	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:36098379A>G	uc003ols.2	+	1	118	c.20A>G	c.(19-21)AAG>AGG	p.K7R	MAPK13_uc003olt.2_RNA	NM_002754	NP_002745	O15264	MK13_HUMAN	mitogen-activated protein kinase 13	7					cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|Ras protein signal transduction|response to stress		ATP binding|MAP kinase activity|protein binding			breast(2)|central_nervous_system(1)	3						ATCCGGAAAAAGGGCTTCTAC	0.617		NaN											0	0	0	0.004672	0	2	10				
NCR2	9436	broad.mit.edu	37	6	41304071	41304071	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:41304071G>C	uc003oqh.2	+	2	386	c.299G>C	c.(298-300)AGA>ACA	p.R100T	NCR2_uc003oqi.2_Missense_Mutation_p.R100T|NCR2_uc003oqj.2_Missense_Mutation_p.R100T	NM_004828	NP_004819	O95944	NCTR2_HUMAN	natural cytotoxicity triggering receptor 2	100	Extracellular (Potential).|Ig-like.				cellular defense response	integral to plasma membrane	transmembrane receptor activity			ovary(1)	1	Ovarian(28;0.0327)|Colorectal(47;0.196)					ACTGATCTGAGAGAGGAAGAC	0.517		NaN											0	0	0	0.014758	0	3	72				
FRS3	10817	broad.mit.edu	37	6	41738604	41738604	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:41738604G>T	uc003orc.1	-	7	1476	c.1232C>A	c.(1231-1233)CCC>CAC	p.P411H		NM_006653	NP_006644	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	411					fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding			ovary(2)	2	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTGCCTTGGGGGCTCGGGCCC	0.687		NaN											1	0	7.48243e-07	0.058154	8.15997e-07	9	30				
CUL9	23113	broad.mit.edu	37	6	43181255	43181255	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:43181255C>T	uc003ouk.2	+	28	5513	c.5438C>T	c.(5437-5439)TCA>TTA	p.S1813L	CUL9_uc003oul.2_Missense_Mutation_p.S1813L|CUL9_uc010jyk.2_Missense_Mutation_p.S965L|CUL9_uc003oun.2_5'Flank	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	1813					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						CCCCTCACCTCAGGGAATGGC	0.632		NaN											0	0	0	0.09319	0	12	65				
CYP39A1	51302	broad.mit.edu	37	6	46607286	46607286	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:46607286C>A	uc003oyf.1	-	3	637	c.433G>T	c.(433-435)GAA>TAA	p.E145*	CYP39A1_uc011dwa.1_Nonsense_Mutation_p.E125*|CYP39A1_uc010jzd.1_Intron	NM_016593	NP_057677	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A,	145					bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			ovary(1)	1						TCCAGTTGTTCATGTAATTCT	0.363		NaN											1	0	2.17888e-05	0.058154	2.3303e-05	9	82				
CYP39A1	51302	broad.mit.edu	37	6	46607298	46607298	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:46607298C>T	uc003oyf.1	-	3	625	c.421G>A	c.(421-423)GAA>AAA	p.E141K	CYP39A1_uc011dwa.1_Missense_Mutation_p.E121K|CYP39A1_uc010jzd.1_Intron	NM_016593	NP_057677	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A,	141					bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			ovary(1)	1						TGTAATTCTTCAGTCAGTTGC	0.378		NaN											0	0	0	0.038147	0	7	75				
SIM1	6492	broad.mit.edu	37	6	100911253	100911253	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:100911253G>A	uc003pqj.3	-	1	299	c.92C>T	c.(91-93)TCG>TTG	p.S31L	SIM1_uc010kcu.2_Missense_Mutation_p.S31L	NM_005068	NP_005059	P81133	SIM1_HUMAN	single-minded homolog 1	31	Helix-loop-helix motif.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(4)	4		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GGTGATAGCCGAGGGCAAAGG	0.458		NaN											0	0	0	0.0333	0	16	80				
NT5DC1	221294	broad.mit.edu	37	6	116436852	116436852	+	Splice_Site	SNP	A	A	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:116436852A>G	uc003pwj.2	+	5	460	c.365_splice	c.e5-2	p.G122_splice	NT5DC1_uc003pwk.2_Splice_Site_p.G122_splice|NT5DC1_uc003pwl.2_Splice_Site_p.G72_splice	NM_152729	NP_689942	Q5TFE4	NT5D1_HUMAN	5'-nucleotidase, cytosolic II-like 1 protein								hydrolase activity|metal ion binding				0		all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469)		all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112)		GTTCTTTTTTAGGAAAGTATT	0.368		NaN											0	0	0	0.047766	0	8	20				
IL20RA	53832	broad.mit.edu	37	6	137330458	137330458	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:137330458C>T	uc003qhj.2	-	4	1008	c.575G>A	c.(574-576)AGA>AAA	p.R192K	IL20RA_uc011edl.1_Missense_Mutation_p.R143K|IL20RA_uc003qhk.2_Missense_Mutation_p.R81K|IL20RA_uc010kgy.1_RNA|IL20RA_uc003qhi.2_5'Flank	NM_014432	NP_055247	Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha precursor	192	Extracellular (Potential).|Fibronectin type-III 2.					integral to membrane	receptor activity			ovary(2)|skin(2)	4	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		GCTTACCGTTCTGTTTGATTT	0.403		NaN											0	0	0	0.024245	0	14	91				
TXLNB	167838	broad.mit.edu	37	6	139583802	139583802	+	Missense_Mutation	SNP	C	C	G	rs140293549		TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:139583802C>G	uc011eds.1	-	5	961	c.796G>C	c.(796-798)GAG>CAG	p.E266Q		NM_153235	NP_694967	Q8N3L3	TXLNB_HUMAN	taxilin beta	266	Potential.					cytoplasm				large_intestine(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		ATATTTCGCTCACTCTGCTGC	0.502		NaN											0	0	0	0.055883	0	17	57				
SF3B5	83443	broad.mit.edu	37	6	144416498	144416498	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:144416498T>C	uc003qkr.1	-	1	257	c.137A>G	c.(136-138)CAC>CGC	p.H46R		NM_031287	NP_112577	Q9BWJ5	SF3B5_HUMAN	SF3b10	46					nuclear mRNA splicing, via spliceosome	nucleoplasm|U12-type spliceosomal complex					0				OV - Ovarian serous cystadenocarcinoma(155;1.68e-06)|GBM - Glioblastoma multiforme(68;0.0638)		AAGGTCGAAGTGGCCCATGTA	0.572		NaN											0	0	0	0.062417	0	20	68				
FNDC1	84624	broad.mit.edu	37	6	159654497	159654497	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:159654497C>T	uc010kjv.2	+	11	3153	c.2953C>T	c.(2953-2955)CGG>TGG	p.R985W	FNDC1_uc010kjw.1_Missense_Mutation_p.R870W	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	985						extracellular region				large_intestine(4)|ovary(3)|central_nervous_system(1)	8		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GCCCGCAGCACGGTCACAGCA	0.677		NaN											0	0	0	0.004672	0	3	14				
SNX13	23161	broad.mit.edu	37	7	17879515	17879515	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr7:17879515C>T	uc003stw.1	-	13	1487	c.1274G>A	c.(1273-1275)AGA>AAA	p.R425K	SNX13_uc003stv.2_Missense_Mutation_p.R425K|SNX13_uc010kuc.2_Missense_Mutation_p.R222K			Q9Y5W8	SNX13_HUMAN	SubName: Full=Putative uncharacterized protein SNX13; SubName: Full=Sorting nexin 13, isoform CRA_g;	425	RGS.				cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity			central_nervous_system(2)|kidney(1)	3	Lung NSC(10;0.0261)|all_lung(11;0.0521)					TTTTCCATCTCTCTGACGACT	0.413		NaN											0	0	0	0.021553	0	6	34				
ELMO1	9844	broad.mit.edu	37	7	37252967	37252967	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr7:37252967C>T	uc003tfk.1	-	12	1234	c.927G>A	c.(925-927)ATG>ATA	p.M309I	ELMO1_uc011kbc.1_Missense_Mutation_p.M213I|ELMO1_uc010kxg.1_Missense_Mutation_p.M309I	NM_014800	NP_055615	Q92556	ELMO1_HUMAN	engulfment and cell motility 1 isoform 1	309					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6						TTTTGGTCATCATCCTGTCTT	0.498		NaN											0	0	0	0.080935	0	11	71				
SLC26A4	5172	broad.mit.edu	37	7	107329646	107329646	+	Splice_Site	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr7:107329646G>A	uc003vep.2	+	9	1373	c.1149_splice	c.e9+1	p.Q383_splice	SLC26A4_uc011kmb.1_5'Flank|SLC26A4_uc011kmc.1_5'Flank	NM_000441	NP_000432	O43511	S26A4_HUMAN	pendrin						regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			ovary(3)|central_nervous_system(2)|skin(2)	7						TGGGAACCAGGTATGGGTGCC	0.433		NaN							Pendred_syndrome				0	0	0	0.049695	0	18	105				
CADPS2	93664	broad.mit.edu	37	7	122130270	122130270	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr7:122130270C>A	uc010lkp.2	-	11	1880	c.1717G>T	c.(1717-1719)GAT>TAT	p.D573Y	CADPS2_uc003vkg.3_Missense_Mutation_p.D273Y|CADPS2_uc010lkq.2_Missense_Mutation_p.D573Y	NM_017954	NP_060424	Q86UW7	CAPS2_HUMAN	Ca2+-dependent activator protein for secretion 2	573	PH.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			ovary(1)|central_nervous_system(1)	2						TGTTCATCATCACTGGCAAAG	0.388		NaN											1	0	1.26484e-09	0.038147	1.40708e-09	6	133				
CSMD3	114788	broad.mit.edu	37	8	113353795	113353795	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr8:113353795G>C	uc003ynu.2	-	42	6722	c.6563C>G	c.(6562-6564)TCT>TGT	p.S2188C	CSMD3_uc003yns.2_Missense_Mutation_p.S1390C|CSMD3_uc003ynt.2_Missense_Mutation_p.S2148C|CSMD3_uc011lhx.1_Missense_Mutation_p.S2084C	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2188	Extracellular (Potential).|CUB 12.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						GAATAAGGAAGATGGTATTTG	0.368		NaN								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			0	0	0	0.076483	0	20	87				
CSMD3	114788	broad.mit.edu	37	8	113353910	113353910	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr8:113353910G>A	uc003ynu.2	-	42	6607	c.6448C>T	c.(6448-6450)CAT>TAT	p.H2150Y	CSMD3_uc003yns.2_Missense_Mutation_p.H1352Y|CSMD3_uc003ynt.2_Missense_Mutation_p.H2110Y|CSMD3_uc011lhx.1_Missense_Mutation_p.H2046Y	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2150	Extracellular (Potential).|CUB 12.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						AACTGGAGATGTACACCTGAA	0.343		NaN								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			0	0	0	0.014758	0	5	19				
ATAD2	29028	broad.mit.edu	37	8	124383930	124383930	+	Silent	SNP	C	C	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr8:124383930C>A	uc003yqh.3	-	4	624	c.516G>T	c.(514-516)CTG>CTT	p.L172L	ATAD2_uc011lii.1_5'UTR|ATAD2_uc003yqi.3_RNA|ATAD2_uc003yqj.2_Silent_p.L172L	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	172					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			ovary(2)	2	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			GTTTGTCAAACAGCATGGACT	0.363		NaN											1	0	1.76689e-08	0.058154	1.94992e-08	7	48				
PHF20L1	51105	broad.mit.edu	37	8	133851656	133851656	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr8:133851656G>A	uc003ytt.2	+	18	2541	c.2216G>A	c.(2215-2217)CGT>CAT	p.R739H	PHF20L1_uc011lja.1_Missense_Mutation_p.R713H	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1 isoform 1	739							nucleic acid binding|zinc ion binding			ovary(2)	2	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GCAAAATATCGTTATGATAAG	0.368		NaN											0	0	0	0.076483	0	20	113				
FAM135B	51059	broad.mit.edu	37	8	139163874	139163874	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr8:139163874C>A	uc003yuy.2	-	13	3015	c.2844G>T	c.(2842-2844)AGG>AGT	p.R948S	FAM135B_uc003yux.2_Missense_Mutation_p.R849S|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.R510S|FAM135B_uc003yvb.2_Missense_Mutation_p.R510S	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	948										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CTGTTGAGTTCCTGTTGATGG	0.488		NaN								HNSCC(54;0.14)			1	0	1.75199e-13	0.034045	2.01369e-13	29	114				
FAM83H	286077	broad.mit.edu	37	8	144811408	144811408	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr8:144811408T>C	uc003yzk.2	-	3	602	c.533A>G	c.(532-534)TAC>TGC	p.Y178C	FAM83H_uc010mfk.1_5'Flank	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	FAM83H	178					biomineral tissue development					lung(1)|central_nervous_system(1)|pancreas(1)	3	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CAGCAGGATGTAGACTGGGAC	0.632		NaN											0	0	0	0.099896	0	24	99				
SMARCA2	6595	broad.mit.edu	37	9	2088542	2088542	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr9:2088542C>A	uc003zhc.2	+	19	2911	c.2812C>A	c.(2812-2814)CTA>ATA	p.L938I	SMARCA2_uc003zhd.2_Missense_Mutation_p.L938I|SMARCA2_uc010mha.2_Missense_Mutation_p.L871I	NM_003070	NP_003061	P51531	SMCA2_HUMAN	SWI/SNF-related matrix-associated	938					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			ovary(2)|central_nervous_system(1)	3		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CATCAGGCGTCTACATAAGGT	0.343		NaN											1	0	9.70103e-10	0.069234	1.08354e-09	9	78		Valid		
CNTLN	54875	broad.mit.edu	37	9	17502622	17502622	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr9:17502622A>T	uc003zmy.2	+	26	4219	c.4193A>T	c.(4192-4194)TAT>TTT	p.Y1398F	CNTLN_uc010mio.2_3'UTR	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	centlein isoform 1	Error:Variant_position_missing_in_Q9NXG0_after_alignment						centriole|membrane	two-component sensor activity			pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.14e-10)		GTTGAAGGATATTTCACAATT	0.279		NaN											0	0	0	0.009096	0	4	14				
LRRC19	64922	broad.mit.edu	37	9	26995683	26995683	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr9:26995683C>T	uc003zqh.2	-	5	1060	c.949G>A	c.(949-951)GAA>AAA	p.E317K	IFT74_uc010mja.2_Intron|IFT74_uc010mjb.2_Intron|IFT74_uc003zqf.3_Intron|IFT74_uc003zqg.3_Intron	NM_022901	NP_075052	Q9H756	LRC19_HUMAN	leucine rich repeat containing 19 precursor	317	Cytoplasmic (Potential).					integral to membrane					0		all_neural(11;1.81e-09)		Lung(218;1.06e-05)|LUSC - Lung squamous cell carcinoma(38;0.0001)		AAACCATCTTCATAGGTTTCT	0.343		NaN											0	0	0	0.058154	0	9	67				
VPS13A	23230	broad.mit.edu	37	9	79959136	79959136	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr9:79959136C>T	uc004akr.2	+	51	7354	c.7094C>T	c.(7093-7095)CCT>CTT	p.P2365L	VPS13A_uc004akp.3_Missense_Mutation_p.P2365L|VPS13A_uc004akq.3_Missense_Mutation_p.P2365L|VPS13A_uc004aks.2_Missense_Mutation_p.P2326L	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A	2365					Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						AGTGAAGATCCTCCCAAAAGG	0.303		NaN											0	0	0	0.038395	0	15	57				
FKBP15	23307	broad.mit.edu	37	9	115950730	115950730	+	Silent	SNP	A	A	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr9:115950730A>G	uc004bgs.2	-	13	1333	c.1215T>C	c.(1213-1215)ACT>ACC	p.T405T	FKBP15_uc010muu.1_Silent_p.T469T|FKBP15_uc011lxc.1_5'Flank|FKBP15_uc011lxd.1_Silent_p.T337T|FKBP15_uc010mut.1_Silent_p.T273T|FKBP15_uc004bgt.2_Silent_p.T405T	NM_015258	NP_056073	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	405					endocytosis|protein folding	axon|early endosome	actin binding			ovary(3)	3						GGACGGACGGAGTCACCACAG	0.567		NaN											0	0	0	0.069234	0	9	53				
SURF1	6834	broad.mit.edu	37	9	136220672	136220672	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr9:136220672G>A	uc004cdh.1	-	5	479	c.447C>T	c.(445-447)GGC>GGT	p.G149G	SURF1_uc004cdg.1_Silent_p.G40G|SURF2_uc004cdi.2_5'Flank	NM_003172	NP_003163	Q15526	SURF1_HUMAN	surfeit 1	149					aerobic respiration|respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			breast(2)	2				OV - Ovarian serous cystadenocarcinoma(145;5.06e-07)|Epithelial(140;4.25e-06)|all cancers(34;3.93e-05)		AGATGAGGCCGCCCTCCCGGG	0.612		NaN											0	0	0	0.009096	0	4	159				
RXRA	6256	broad.mit.edu	37	9	137293529	137293529	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr9:137293529C>G	uc004cfb.2	+	2	242	c.80C>G	c.(79-81)TCC>TGC	p.S27C	RXRA_uc004cfa.1_Silent_p.L77L	NM_002957	NP_002948	P19793	RXRA_HUMAN	retinoid X receptor, alpha	27	Modulating (By similarity).			S->A: Increase in RARA-mediated transcriptional activity.|S->A: Abolishes phosphorylation. No change in increase of RARA-mediated transcriptional activity.	cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	GGGCGAGGCTCCATGGCTGCC	0.662		NaN											0	0	0	0.0918	0	25	54		Valid		
CNKSR2	22866	broad.mit.edu	37	X	21613156	21613156	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chrX:21613156G>A	uc004czx.1	+	16	1931	c.1895G>A	c.(1894-1896)CGC>CAC	p.R632H	CNKSR2_uc004czw.2_Missense_Mutation_p.R632H|CNKSR2_uc011mjn.1_Missense_Mutation_p.R583H|CNKSR2_uc011mjo.1_Missense_Mutation_p.R602H|CNKSR2_uc004czy.2_Missense_Mutation_p.R224H	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras	632	PH.				regulation of signal transduction	cytoplasm|membrane	protein binding			large_intestine(1)|lung(1)	2						AGTGAATGCCGCAAAAAATAG	0.323		NaN											0	0	0	0.058154	0	8	9				
RPGR	6103	broad.mit.edu	37	X	38156638	38156638	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chrX:38156638G>C	uc004ded.1	-	11	1481	c.1313C>G	c.(1312-1314)TCT>TGT	p.S438C	RPGR_uc004deb.2_Missense_Mutation_p.S438C|RPGR_uc004dea.2_RNA|RPGR_uc004dec.2_RNA|RPGR_uc004dee.1_Missense_Mutation_p.S123C	NM_001034853	NP_001030025	Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator isoform C	438					intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			ovary(1)	1						AAAACAAGCAGAAAGGCCAAG	0.428		NaN											0	0	0	0.069234	0	10	20				
WDR45	11152	broad.mit.edu	37	X	48933234	48933234	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chrX:48933234C>A	uc004dmk.1	-	8	867	c.695G>T	c.(694-696)CGC>CTC	p.R232L	PRAF2_uc004dmh.2_5'Flank|PRAF2_uc004dmi.2_5'Flank|PRAF2_uc011mmt.1_Missense_Mutation_p.R130L|WDR45_uc004dmj.1_Missense_Mutation_p.R193L|WDR45_uc004dml.1_Missense_Mutation_p.R233L|WDR45_uc004dmm.1_Missense_Mutation_p.R197L|WDR45_uc010nim.1_Missense_Mutation_p.R232L|WDR45_uc004dmn.1_Missense_Mutation_p.R123L|WDR45_uc004dmo.1_Missense_Mutation_p.R255L|WDR45_uc004dmp.1_Missense_Mutation_p.R233L	NM_001029896	NP_001025067	Q9Y484	WIPI4_HUMAN	WD repeat domain 45 isoform 2	232					autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding			ovary(1)	1						AGTGCCTCGGCGCAGCTCCAC	0.567		NaN											1	0	0.00448238	0.047766	0.00459859	7	17				
PJA1	64219	broad.mit.edu	37	X	68381656	68381656	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chrX:68381656C>T	uc004dxh.2	-	2	1712	c.1426G>A	c.(1426-1428)GAT>AAT	p.D476N	PJA1_uc011mpi.1_Missense_Mutation_p.D194N|PJA1_uc004dxg.2_Missense_Mutation_p.D288N|PJA1_uc004dxi.2_Missense_Mutation_p.D421N	NM_145119	NP_660095	Q8NG27	PJA1_HUMAN	praja 1 isoform a	476							zinc ion binding				0						GAATCATTATCCCCCTCACTG	0.478		NaN											0	0	0	0.021553	0	4	115				
GLA	2717	broad.mit.edu	37	X	100656704	100656704	+	Missense_Mutation	SNP	C	C	G	rs113419388		TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chrX:100656704C>G	uc004ehl.1	-	3	573	c.463G>C	c.(463-465)GAT>CAT	p.D155H	GLA_uc011mrj.1_Missense_Mutation_p.D155H	NM_000169	NP_000160	P06280	AGAL_HUMAN	alpha-galactosidase A precursor	155					glycoside catabolic process|glycosphingolipid catabolic process|glycosylceramide catabolic process|negative regulation of nitric oxide biosynthetic process|negative regulation of nitric-oxide synthase activity|oligosaccharide metabolic process	extracellular region|Golgi apparatus|lysosome	cation binding|protein homodimerization activity|raffinose alpha-galactosidase activity|receptor binding				0					Agalsidase beta(DB00103)	GTCTGGGCATCAATGTCGTAG	0.428		NaN											0	0	0	0.059317	0	29	42				
USP26	83844	broad.mit.edu	37	X	132162154	132162154	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chrX:132162154C>A	uc010nrm.1	-	6	565	c.95G>T	c.(94-96)AGA>ATA	p.R32I	USP26_uc011mvf.1_Missense_Mutation_p.R32I	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	ubiquitin-specific protease 26	32					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			lung(3)|central_nervous_system(3)|kidney(1)|liver(1)	8	Acute lymphoblastic leukemia(192;0.000127)					TTTCTTCTTTCTTTCCACTGC	0.368		NaN											1	0	0.00116845	0.021553	0.00121221	6	17				
RIT1	6016	broad.mit.edu	37	1	155874559	155874561	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr1:155874559_155874561delTCA	uc001fmh.1	-	4	385_387	c.198_200delTGA	c.(196-201)GATGAG>GAG	p.D66del	RIT1_uc010pgr.1_In_Frame_Del_p.D30del	NM_006912	NP_008843	Q92963	RIT1_HUMAN	Ras-like without CAAX 1	66					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity			breast(1)	1	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)			ATTGGCAGGCTCATCATCAATAC	0.409		NaN											NaN	NaN	NaN	NaN	NaN	11	100	---		---	---
WNK1	65125	broad.mit.edu	37	12	970296	970297	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr12:970296_970297insA	uc001qio.3	+	7	2245_2246	c.1738_1739insA	c.(1738-1740)GAAfs	p.E580fs	WNK1_uc001qip.3_Frame_Shift_Ins_p.E580fs|WNK1_uc001qir.3_Frame_Shift_Ins_p.E27fs	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	580					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GGAGGAGCAAGAAAAAAAAAAG	0.47		NaN											NaN	NaN	NaN	NaN	NaN	7	97	---		---	---
DUSP6	1848	broad.mit.edu	37	12	89744602	89744603	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr12:89744602_89744603insG	uc001tay.2	-	2	1080_1081	c.600_601insC	c.(598-603)TCCAACfs	p.S200fs	DUSP6_uc001taz.2_Intron	NM_001946	NP_001937	Q16828	DUS6_HUMAN	dual specificity phosphatase 6 isoform a	200_201					dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity				0						GGCTGGCTGTTGGACAGCGGAC	0.564		NaN											NaN	NaN	NaN	NaN	NaN	19	139	---		---	---
UTP20	27340	broad.mit.edu	37	12	101680157	101680157	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr12:101680157delT	uc001tia.1	+	5	541	c.385delT	c.(385-387)TTTfs	p.F129fs	UTP20_uc009ztz.1_Frame_Shift_Del_p.F129fs	NM_014503	NP_055318	O75691	UTP20_HUMAN	down-regulated in metastasis	129					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			ovary(2)|breast(2)	4						CTTTCCAGAGTTTTTTTTGAC	0.398		NaN											NaN	NaN	NaN	NaN	NaN	8	241	---		---	---
IRX6	79190	broad.mit.edu	37	16	55362674	55362676	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr16:55362674_55362676delGAG	uc002ehy.2	+	5	1317_1319	c.784_786delGAG	c.(784-786)GAGdel	p.E268del	IRX6_uc002ehx.2_In_Frame_Del_p.E268del	NM_024335	NP_077311	P78412	IRX6_HUMAN	iroquois homeobox protein 6	268						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(5)|ovary(1)	6						CCTggaggaagaggaggaggagg	0.493		NaN											NaN	NaN	NaN	NaN	NaN	7	71	---		---	---
RBM43	375287	broad.mit.edu	37	2	152108088	152108088	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:152108088delT	uc002txh.2	-	4	554	c.406delA	c.(406-408)ATCfs	p.I136fs		NM_198557	NP_940959	Q6ZSC3	RBM43_HUMAN	RNA binding motif protein 43	136							nucleotide binding|RNA binding				0				BRCA - Breast invasive adenocarcinoma(221;0.131)		AAACTCGGGATTTTTTTTTTC	0.388		NaN											NaN	NaN	NaN	NaN	NaN	7	103	---		---	---
COL18A1	80781	broad.mit.edu	37	21	46913126	46913126	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr21:46913126delC	uc011afs.1	+	24	3530	c.3509delC	c.(3508-3510)TCCfs	p.S1170fs	COL18A1_uc002zhg.2_Frame_Shift_Del_p.S755fs|COL18A1_uc002zhi.2_Frame_Shift_Del_p.S935fs	NM_130444	NP_569711	P39060	COIA1_HUMAN	alpha 1 type XVIII collagen isoform 3 precursor	1170	Triple-helical region 5 (COL5).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			central_nervous_system(1)	1				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GAACGAGGCTCCCCGGGACCC	0.672		NaN											NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
FAT1	2195	broad.mit.edu	37	4	187557747	187557747	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr4:187557747delT	uc003izf.2	-	5	4152	c.3964delA	c.(3964-3966)ATTfs	p.I1322fs		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	1322	Extracellular (Potential).|Cadherin 11.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						ACTGAAAGAATATCATATTCT	0.338		NaN								HNSCC(5;0.00058)			NaN	NaN	NaN	NaN	NaN	14	300	---		---	---
RHOBTB3	22836	broad.mit.edu	37	5	95116086	95116086	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr5:95116086delC	uc003klm.2	+	9	1950	c.1413delC	c.(1411-1413)TTCfs	p.F471fs		NM_014899	NP_055714	O94955	RHBT3_HUMAN	rho-related BTB domain containing 3	471	BTB 2.|Interaction with Rab9.				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding			lung(1)|skin(1)	2		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		AAGAGACTTTCTTGTCATTTT	0.418		NaN											NaN	NaN	NaN	NaN	NaN	20	73	---		---	---
