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
CLCN6	1185	broad.mit.edu	37	1	11888677	11888677	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr1:11888677G>A	uc001ate.3	+	12	1230	c.1117G>A	c.(1117-1119)GTC>ATC	p.V373I	CLCN6_uc009vnh.1_Intron|CLCN6_uc010oat.1_Missense_Mutation_p.V89I|CLCN6_uc010oau.1_Missense_Mutation_p.V351I	NM_001286	NP_001277	P51797	CLCN6_HUMAN	chloride channel 6 isoform ClC-6a	373	Helical; (By similarity).				cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity				0	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		ACCTAAGCTCGTCAGGTATCT	0.627		NaN											0	0	0	0.001168	0	6	108				
VPS13D	55187	broad.mit.edu	37	1	12371682	12371682	+	Silent	SNP	T	T	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr1:12371682T>C	uc001atv.2	+	28	6963	c.6822T>C	c.(6820-6822)CAT>CAC	p.H2274H	VPS13D_uc001atw.2_Silent_p.H2274H|VPS13D_uc001atx.2_Silent_p.H1462H|VPS13D_uc001aty.1_Silent_p.H12H	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	2274					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)		CAAGAATTCATGTGAGTGAGA	0.433		NaN											0	0	0	0.020292	0	14	109				
AADACL4	343066	broad.mit.edu	37	1	12704629	12704629	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr1:12704629T>G	uc001auf.2	+	1	64	c.64T>G	c.(64-66)TGG>GGG	p.W22G		NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	22	Helical; Signal-anchor for type II membrane protein; (Potential).					integral to membrane	carboxylesterase activity				0	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		GGTCTTTGTCTGGGCTGTCTT	0.552		NaN											0	0	0	0.013537	0	13	124				
MFAP2	4237	broad.mit.edu	37	1	17303274	17303274	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr1:17303274G>A	uc001azw.2	-	5	303	c.170C>T	c.(169-171)CCC>CTC	p.P57L	MFAP2_uc001azx.2_Missense_Mutation_p.P56L|MFAP2_uc001azy.2_Missense_Mutation_p.P57L|MFAP2_uc010ocl.1_Missense_Mutation_p.P56L	NM_002403	NP_002394	P55001	MFAP2_HUMAN	microfibrillar-associated protein 2 isoform a	57						microfibril					0		Colorectal(325;3.46e-05)|Breast(348;0.000118)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000538)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|COAD - Colon adenocarcinoma(227;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;3.04e-05)|Kidney(64;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00544)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		TTCCTCGGAGGGCCGAGGAGT	0.383		NaN											0	0	0	0.009096	0	4	89				
ARID1A	8289	broad.mit.edu	37	1	27057947	27057947	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr1:27057947C>T	uc001bmv.1	+	3	2028	c.1655C>T	c.(1654-1656)TCA>TTA	p.S552L	ARID1A_uc001bmt.1_Missense_Mutation_p.S552L|ARID1A_uc001bmu.1_Missense_Mutation_p.S552L|ARID1A_uc001bmw.1_Missense_Mutation_p.S169L	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	552					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCCCCCTACTCACAGCCACAG	0.652		NaN	Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								0	0	0	0.009535	0	31	203		Valid		
ARID1A	8289	broad.mit.edu	37	1	27057988	27057988	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr1:27057988C>T	uc001bmv.1	+	3	2069	c.1696C>T	c.(1696-1698)CAG>TAG	p.Q566*	ARID1A_uc001bmt.1_Nonsense_Mutation_p.Q566*|ARID1A_uc001bmu.1_Nonsense_Mutation_p.Q566*|ARID1A_uc001bmw.1_Nonsense_Mutation_p.Q183*	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	566	Poly-Gln.				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCAGCAACCTCAGCAGCCAGC	0.637		NaN	Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								0	0	0	0.010818	0	32	207		Valid		
CSMD2	114784	broad.mit.edu	37	1	34164482	34164482	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr1:34164482C>T	uc001bxn.1	-	24	3705	c.3676G>A	c.(3676-3678)GAA>AAA	p.E1226K	CSMD2_uc001bxm.1_Missense_Mutation_p.E1266K|CSMD2_uc001bxo.1_Missense_Mutation_p.E139K	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1226	Sushi 7.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AAATGACCTTCATCATGAACC	0.537		NaN											0	0	0	0.00308	0	7	44				
CSMD2	114784	broad.mit.edu	37	1	34166205	34166205	+	Silent	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr1:34166205C>T	uc001bxn.1	-	23	3554	c.3525G>A	c.(3523-3525)GTG>GTA	p.V1175V	CSMD2_uc001bxm.1_Silent_p.V1215V|CSMD2_uc001bxo.1_Silent_p.V88V	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1175	Extracellular (Potential).|CUB 7.			V -> E (in Ref. 2; BAC87101).		integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGTTCAAAGTCACCCCCATCA	0.483		NaN											0	0	0	0.016723	0	12	85				
ZC3H12A	80149	broad.mit.edu	37	1	37947335	37947335	+	Silent	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr1:37947335C>T	uc001cbb.3	+	4	867	c.717C>T	c.(715-717)ATC>ATT	p.I239I	ZC3H12A_uc001cbc.1_5'UTR	NM_025079	NP_079355	Q5D1E8	ZC12A_HUMAN	zinc finger CCCH-type containing 12A	239					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			ovary(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTGACGGGATCGTGGTTTCCA	0.567		NaN											0	0	0	0.013537	0	11	73				
EPS15	2060	broad.mit.edu	37	1	51912718	51912718	+	Silent	SNP	T	T	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr1:51912718T>C	uc001csq.1	-	10	803	c.711A>G	c.(709-711)AAA>AAG	p.K237K	EPS15_uc009vyz.1_Silent_p.K237K	NM_001981	NP_001972	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway	237	EH 3.|EF-hand 2.|2.				cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding			lung(1)|kidney(1)	2						CGTCCATATCTTTATCAGTTT	0.363		NaN	T	MLL	ALL								0	0	0	0.00308	0	7	67				
GLIS1	148979	broad.mit.edu	37	1	54059901	54059901	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr1:54059901C>G	uc001cvr.1	-	3	1242	c.675G>C	c.(673-675)AAG>AAC	p.K225N		NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN	GLIS family zinc finger 1	225					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			skin(1)	1						AGTCCTCGCCCTTGCGCTGGT	0.662		NaN											0	0	0	0.004672	0	3	20				
DHCR24	1718	broad.mit.edu	37	1	55331117	55331117	+	Silent	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr1:55331117C>T	uc001cyc.1	-	6	1008	c.879G>A	c.(877-879)CTG>CTA	p.L293L	DHCR24_uc010ooi.1_5'UTR|DHCR24_uc010ooj.1_Intron|DHCR24_uc010ook.1_Silent_p.L252L	NM_014762	NP_055577	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase precursor	293					anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding			pancreas(1)	1						CAATGCTATTCAGCTGAAATG	0.408		NaN											0	0	0	0.006214	0	8	58				
C1orf173	127254	broad.mit.edu	37	1	75036915	75036915	+	Silent	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr1:75036915C>T	uc001dgg.2	-	14	4698	c.4479G>A	c.(4477-4479)GCG>GCA	p.A1493A		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	1493										ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						GTGTTGCCATCGCCTGTAGAC	0.522		NaN											0	0	0	0.020292	0	13	150				
ADAM30	11085	broad.mit.edu	37	1	120436733	120436733	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr1:120436733C>A	uc001eij.2	-	1	2381	c.2227G>T	c.(2227-2229)GAA>TAA	p.E743*		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30 preproprotein	743	2.|5 X 9 AA approximate repeats.|Cytoplasmic (Potential).				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			ovary(2)|lung(1)	3	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		GTTTTAGATTCTTCCTGTACA	0.358		NaN											1	0	0.00307968	0.00308	0.00322292	8	157				
FLG	2312	broad.mit.edu	37	1	152282624	152282624	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr1:152282624C>G	uc001ezu.1	-	3	4774	c.4738G>C	c.(4738-4740)GAA>CAA	p.E1580Q		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1580	Ser-rich.|Filaggrin 9.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCGCTGATTCTCCCTGGCCC	0.597		NaN							Ichthyosis				0	0	0	0.008361	0	31	203				
FLG	2312	broad.mit.edu	37	1	152285731	152285731	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr1:152285731G>A	uc001ezu.1	-	3	1667	c.1631C>T	c.(1630-1632)TCC>TTC	p.S544F	uc001ezv.2_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	544	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGATGGGAACCTGAGTG	0.557		NaN							Ichthyosis				0	0	0	0.00623	0	40	301				
DARS2	55157	broad.mit.edu	37	1	173795890	173795890	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr1:173795890G>C	uc001gjh.1	+	2	603	c.193G>C	c.(193-195)GAA>CAA	p.E65Q	CENPL_uc009wwg.2_5'Flank|CENPL_uc001gje.3_5'Flank|CENPL_uc001gjg.3_5'Flank|CENPL_uc001gjf.3_5'Flank	NM_018122	NP_060592	Q6PI48	SYDM_HUMAN	aspartyl-tRNA synthetase 2, mitochondrial	65					tRNA aminoacylation for protein translation	mitochondrial matrix|nucleus	aspartate-tRNA ligase activity|ATP binding|nucleic acid binding			central_nervous_system(2)	2					L-Aspartic Acid(DB00128)	CTTAGGCCAAGAAGTCACCTT	0.398		NaN											0	0	0	0.006214	0	7	70				
CR2	1380	broad.mit.edu	37	1	207639892	207639892	+	Missense_Mutation	SNP	C	C	T	rs150906379		TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr1:207639892C>T	uc001hfw.2	+	2	174	c.80C>T	c.(79-81)CCG>CTG	p.P27L	CR2_uc001hfv.2_Missense_Mutation_p.P27L|CR2_uc009xch.2_Missense_Mutation_p.P27L	NM_001877	NP_001868	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus)	27	Sushi 1.|Extracellular (Potential).				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1)	8						GGCTCTCCTCCGCCTATCCTA	0.413		NaN											0	0	0	0.016723	0	12	131				
MOSC2	54996	broad.mit.edu	37	1	220955233	220955233	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr1:220955233G>A	uc001hmq.2	+	7	1196	c.998G>A	c.(997-999)CGG>CAG	p.R333Q	MOSC2_uc001hmr.2_Missense_Mutation_p.R333Q|MOSC2_uc009xdx.2_Intron	NM_017898	NP_060368	Q969Z3	MOSC2_HUMAN	MOCO sulphurase C-terminal domain containing 2	333	MOSC.					mitochondrial outer membrane|peroxisome	molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding				0				GBM - Glioblastoma multiforme(131;0.00499)|all cancers(67;0.204)		CCTGTGTATCGGATGGTGTAG	0.438		NaN											0	0	0	0.020292	0	11	135				
ZNF692	55657	broad.mit.edu	37	1	249144438	249144438	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr1:249144438G>A	uc001ifc.1	-	12	1698	c.1531C>T	c.(1531-1533)CAG>TAG	p.Q511*	ZNF692_uc001iez.1_Nonsense_Mutation_p.Q233*|ZNF692_uc001ifa.1_Nonsense_Mutation_p.Q233*|ZNF692_uc001ifb.1_Nonsense_Mutation_p.Q307*|ZNF692_uc001ifd.1_Nonsense_Mutation_p.Q510*|ZNF692_uc001ife.1_RNA|ZNF692_uc001iff.1_Nonsense_Mutation_p.Q466*|ZNF692_uc010pzr.1_Nonsense_Mutation_p.Q516*	NM_017865	NP_060335	Q9BU19	ZN692_HUMAN	zinc finger protein 692 isoform 2	511					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GTTGGAGCCTGAGGAGATGCA	0.612		NaN											0	0	0	0.001984	0	5	51				
CUBN	8029	broad.mit.edu	37	10	16932503	16932503	+	Silent	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr10:16932503C>G	uc001ioo.2	-	55	8674	c.8622G>C	c.(8620-8622)GTG>GTC	p.V2874V	CUBN_uc009xjq.1_RNA|CUBN_uc009xjr.1_Silent_p.V230V	NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	2874	CUB 21.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGGCTTTGTCCACCTCCTCAG	0.498		NaN											0	0	0	0.00308	0	6	62				
CUBN	8029	broad.mit.edu	37	10	17087133	17087133	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr10:17087133G>C	uc001ioo.2	-	25	3597	c.3545C>G	c.(3544-3546)CCG>CGG	p.P1182R		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	1182	CUB 7.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATAGGGCATCGGGTAGTTGGG	0.493		NaN											0	0	0	0.00308	0	7	61				
PPYR1	5540	broad.mit.edu	37	10	47087272	47087272	+	Silent	SNP	C	C	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr10:47087272C>A	uc001jee.2	+	3	908	c.489C>A	c.(487-489)ATC>ATA	p.I163I	ANXA8_uc001jed.3_Intron|PPYR1_uc009xna.2_Silent_p.I163I	NM_005972	NP_005963	P50391	NPY4R_HUMAN	pancreatic polypeptide receptor 1	163	Helical; Name=4; (Potential).				blood circulation|digestion|feeding behavior	integral to plasma membrane				ovary(1)|skin(1)	2						TTGTGCTCATCTGGGTCATTG	0.587		NaN											1	0	0.00116845	0.001168	0.00123234	6	90				
KCNMA1	3778	broad.mit.edu	37	10	78943241	78943241	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr10:78943241A>G	uc001jxn.2	-	5	923	c.746T>C	c.(745-747)GTA>GCA	p.V249A	KCNMA1_uc001jxj.2_Missense_Mutation_p.V249A|KCNMA1_uc001jxk.1_5'UTR|KCNMA1_uc009xrt.1_Missense_Mutation_p.V69A|KCNMA1_uc001jxo.2_Missense_Mutation_p.V249A|KCNMA1_uc001jxm.2_Missense_Mutation_p.V249A|KCNMA1_uc001jxq.2_Missense_Mutation_p.V249A	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	large conductance calcium-activated potassium	249	Helical; Name=Segment S3; (Potential).				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			pancreas(2)|ovary(1)	3	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	GAAATCCACTACAGAGTTCAC	0.448		NaN											0	0	0	0.009096	0	4	33				
HPSE2	60495	broad.mit.edu	37	10	100242424	100242424	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr10:100242424G>A	uc001kpn.1	-	11	1642	c.1582C>T	c.(1582-1584)CAG>TAG	p.Q528*	HPSE2_uc009xwc.1_Nonsense_Mutation_p.Q518*|HPSE2_uc001kpo.1_Nonsense_Mutation_p.Q460*|HPSE2_uc009xwd.1_Nonsense_Mutation_p.Q406*	NM_021828	NP_068600	Q8WWQ2	HPSE2_HUMAN	heparanase 2	528					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			ovary(1)	1				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		CCATAGGGCTGCAGCAGGTAC	0.522		NaN											0	0	0	0.008361	0	28	160				
C10orf2	56652	broad.mit.edu	37	10	102748960	102748960	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr10:102748960C>G	uc001ksf.2	+	1	1668	c.993C>G	c.(991-993)TTC>TTG	p.F331L	MRPL43_uc001kry.1_5'Flank|MRPL43_uc010qpu.1_5'Flank|MRPL43_uc001krz.1_5'Flank|MRPL43_uc001ksa.1_5'Flank|MRPL43_uc001ksb.1_5'Flank|MRPL43_uc001ksd.1_5'Flank|MRPL43_uc001ksc.2_5'Flank|MRPL43_uc001kse.2_5'Flank|C10orf2_uc001ksg.2_Missense_Mutation_p.F331L|C10orf2_uc001ksi.2_Intron|C10orf2_uc010qpv.1_Intron|C10orf2_uc001ksh.2_Intron	NM_021830	NP_068602	Q96RR1	PEO1_HUMAN	twinkle isoform A	331					cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding			ovary(1)	1		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		AACGATGCTTCTTGGTGCGAC	0.572		NaN											0	0	0	0.020292	0	13	67				
HABP2	3026	broad.mit.edu	37	10	115337829	115337829	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr10:115337829T>A	uc001lai.3	+	6	596	c.493T>A	c.(493-495)TGC>AGC	p.C165S	HABP2_uc010qrz.1_RNA|HABP2_uc010qry.1_Silent_p.P153P	NM_004132	NP_004123	Q14520	HABP2_HUMAN	hyaluronan binding protein 2 preproprotein	165	EGF-like 3.				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			ovary(2)|skin(1)	3		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		TGGGGCTACCTGCTCCCGGCA	0.557		NaN											0	0	0	0.006214	0	10	68				
GPR123	84435	broad.mit.edu	37	10	134912196	134912196	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr10:134912196C>T	uc001llx.3	+	4	620	c.184C>T	c.(184-186)CAC>TAC	p.H62Y	GPR123_uc001llw.2_Missense_Mutation_p.H782Y	NM_001083909	NP_001077378	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	62	Helical; Name=2; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		TTTCTGCTTCCACGCGGCCCT	0.652		NaN											0	0	0	0.004482	0	9	61				
ZNF214	7761	broad.mit.edu	37	11	7021340	7021340	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr11:7021340G>A	uc001mfa.2	-	3	1877	c.1574C>T	c.(1573-1575)CCC>CTC	p.P525L	ZNF214_uc010ray.1_Missense_Mutation_p.P525L|ZNF214_uc009yfh.1_Missense_Mutation_p.P525L	NM_013249	NP_037381	Q9UL59	ZN214_HUMAN	zinc finger protein 214	525					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)		ACATTTATAGGGCTTTTCTCC	0.423		NaN											0	0	0	0.00308	0	8	67				
TMEM41B	440026	broad.mit.edu	37	11	9305135	9305135	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr11:9305135C>T	uc001mhm.2	-	7	1020	c.712G>A	c.(712-714)GCA>ACA	p.A238T	TMEM41B_uc001mhn.1_Missense_Mutation_p.A238T	NM_015012	NP_055827	Q5BJD5	TM41B_HUMAN	transmembrane protein 41B isoform 1	238	Helical; (Potential).					integral to membrane					0				all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972)		GAAGGAGGTGCGACACCTGAA	0.333		NaN											0	0	0	0.001984	0	6	29				
OR5AS1	219447	broad.mit.edu	37	11	55798793	55798793	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr11:55798793C>T	uc010riw.1	+	1	899	c.899C>T	c.(898-900)GCT>GTT	p.A300V		NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS,	300	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|liver(1)|skin(1)	5	Esophageal squamous(21;0.00693)					GTGAAAAATGCTCTCAAAAAG	0.308		NaN											0	0	0	0.00308	0	8	32				
OR8K5	219453	broad.mit.edu	37	11	55927583	55927583	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr11:55927583G>C	uc010rja.1	-	1	211	c.211C>G	c.(211-213)CTT>GTT	p.L71V		NM_001004058	NP_001004058	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K,	71	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)|skin(1)	4	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				GAATTACCAAGATCAACAAAA	0.403		NaN											0	0	0	0.010729	0	12	115				
P2RX3	5024	broad.mit.edu	37	11	57135555	57135555	+	Silent	SNP	C	C	T	rs150261482		TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr11:57135555C>T	uc001nju.2	+	9	991	c.915C>T	c.(913-915)TTC>TTT	p.F305F		NM_002559	NP_002550	P56373	P2RX3_HUMAN	purinergic receptor P2X3	305	Extracellular (Potential).				positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity				0						GCATCCGCTTCGACGTGCTGG	0.567		NaN											0	0	0	0.014758	0	4	44				
AHNAK	79026	broad.mit.edu	37	11	62288917	62288917	+	Silent	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr11:62288917G>A	uc001ntl.2	-	5	13272	c.12972C>T	c.(12970-12972)TTC>TTT	p.F4324F	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	4324					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				CTGGCATGCTGAATTTGGGCA	0.517		NaN											0	0	0	0.001984	0	7	222				
AHNAK	79026	broad.mit.edu	37	11	62289517	62289517	+	Silent	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr11:62289517G>A	uc001ntl.2	-	5	12672	c.12372C>T	c.(12370-12372)CTC>CTT	p.L4124L	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	4124					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				TCGGTGCCTTGAGGTGCAGGT	0.493		NaN											0	0	0	0.001168	0	6	141				
AHNAK	79026	broad.mit.edu	37	11	62290726	62290726	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr11:62290726G>C	uc001ntl.2	-	5	11463	c.11163C>G	c.(11161-11163)ATC>ATG	p.I3721M	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	3721					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				CTGAGCCTTCGATGTTAATGT	0.458		NaN											0	0	0	0.006214	0	9	153				
RARRES3	5920	broad.mit.edu	37	11	63312303	63312303	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr11:63312303G>T	uc001nxf.3	+	3	397	c.329G>T	c.(328-330)AGC>ATC	p.S110I		NM_004585	NP_004576	Q9UL19	TIG3_HUMAN	retinoic acid receptor responder (tazarotene	110					lipid catabolic process|negative regulation of cell proliferation		hydrolase activity			ovary(1)	1						AGTATTGTGAGCAGGAACTGT	0.512		NaN											1	0	0.000442599	0.006214	0.00047048	9	132				
PACS1	55690	broad.mit.edu	37	11	65977851	65977851	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr11:65977851C>T	uc001oha.1	+	3	597	c.463C>T	c.(463-465)CGC>TGC	p.R155C	PACS1_uc001ogz.1_Missense_Mutation_p.R155C	NM_018026	NP_060496	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	155					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding			ovary(6)	6						AAGAATTCTTCGCTCCAACGA	0.328		NaN											0	0	0	0.020292	0	14	56				
SUV420H1	51111	broad.mit.edu	37	11	67926270	67926270	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr11:67926270T>C	uc001onm.1	-	11	1799	c.1543A>G	c.(1543-1545)AGA>GGA	p.R515G	SUV420H1_uc009yse.1_Missense_Mutation_p.R101G|SUV420H1_uc001onn.1_Missense_Mutation_p.R343G|SUV420H1_uc009ysf.2_Missense_Mutation_p.R275G	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 isoform	515					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			ovary(2)|kidney(1)	3						CTGTGTTCTCTCGCCGCGTGT	0.522		NaN											0	0	0	0.009096	0	4	59				
USP35	57558	broad.mit.edu	37	11	77911809	77911809	+	Silent	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr11:77911809C>T	uc009yva.1	+	6	1398	c.1152C>T	c.(1150-1152)TTC>TTT	p.F384F	USP35_uc001oze.2_Silent_p.F140F|USP35_uc001ozc.2_Intron|USP35_uc010rsp.1_Intron|USP35_uc001ozd.2_5'UTR|USP35_uc001ozf.2_Silent_p.F115F	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	ubiquitin specific protease 35	384					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)	3	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			TGTTCCGGTTCCCGGGCTTCC	0.622		NaN											0	0	0	0.001984	0	4	34				
CARD17	440068	broad.mit.edu	37	11	104971361	104971361	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr11:104971361C>T	uc001pir.1	-	2	170	c.153G>A	c.(151-153)ATG>ATA	p.M51I	CASP1_uc010rve.1_Intron|CASP1_uc010rvf.1_Intron|CASP1_uc010rvg.1_Intron|CASP1_uc010rvh.1_Intron|CASP1_uc010rvi.1_Intron	NM_001007232	NP_001007233	Q5XLA6	CAR17_HUMAN	caspase recruitment domain family, member 17	51	CARD.				proteolysis|regulation of apoptosis	cytoplasm	cysteine-type endopeptidase activity|cysteine-type endopeptidase inhibitor activity			ovary(1)	1						GGGCCTTATCCATAACTGTAG	0.443		NaN											0	0	0	0.004007	0	16	84				
FOXRED1	55572	broad.mit.edu	37	11	126147526	126147526	+	Missense_Mutation	SNP	C	C	T	rs142489681		TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr11:126147526C>T	uc001qdi.2	+	11	1450	c.1403C>T	c.(1402-1404)CCC>CTC	p.P468L	FOXRED1_uc010sbn.1_Missense_Mutation_p.P298L|FOXRED1_uc010sbo.1_RNA|FOXRED1_uc010sbp.1_Missense_Mutation_p.P281L|FOXRED1_uc010sbq.1_Missense_Mutation_p.P335L|FOXRED1_uc001qdj.2_Missense_Mutation_p.P257L|FOXRED1_uc010sbr.1_Missense_Mutation_p.P454L|FOXRED1_uc001qdk.2_Missense_Mutation_p.P257L	NM_017547	NP_060017	Q96CU9	FXRD1_HUMAN	FAD-dependent oxidoreductase domain containing	468						integral to membrane|mitochondrion	oxidoreductase activity|protein binding				0	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		GACCTGAGCCCCTTCCTCTTT	0.572		NaN											0	0	0	0.014758	0	4	40				
OPCML	4978	broad.mit.edu	37	11	132306105	132306105	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr11:132306105C>T	uc001qgs.2	-	6	862	c.812G>A	c.(811-813)AGG>AAG	p.R271K	OPCML_uc001qgu.2_Missense_Mutation_p.R264K|OPCML_uc010sck.1_Missense_Mutation_p.R271K|OPCML_uc001qgt.2_Missense_Mutation_p.R270K|OPCML_uc010scl.1_Missense_Mutation_p.R230K	NM_002545	NP_002536	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion	271	Ig-like C2-type 3.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			ovary(2)|skin(1)	3	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		GTTTTCAATCCTCATTCCATC	0.448		NaN											0	0	0	0.009096	0	4	109				
NCAPD3	23310	broad.mit.edu	37	11	134029834	134029834	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr11:134029834C>G	uc001qhd.1	-	29	4426	c.3820G>C	c.(3820-3822)GAT>CAT	p.D1274H	NCAPD3_uc010scm.1_RNA|NCAPD3_uc009zda.1_RNA|NCAPD3_uc001qhc.1_Missense_Mutation_p.D224H	NM_015261	NP_056076	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1274	Potential.				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	5	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		CCGGCCACATCTGCATGTTTT	0.562		NaN											0	0	0	0.014758	0	5	23				
VWF	7450	broad.mit.edu	37	12	6085359	6085359	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr12:6085359G>C	uc001qnn.1	-	43	7605	c.7355C>G	c.(7354-7356)ACC>AGC	p.T2452S	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	2452	VWFC 2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12					Antihemophilic Factor(DB00025)	GTCGGTGCAGGTGCACACATC	0.607		NaN											0	0	0	0.009096	0	4	89				
CD9	928	broad.mit.edu	37	12	6344475	6344475	+	Silent	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr12:6344475G>A	uc001qnp.1	+	6	873	c.429G>A	c.(427-429)CTG>CTA	p.L143L	CD9_uc010sev.1_Silent_p.L143L|CD9_uc001qnq.1_Silent_p.L143L	NM_001769	NP_001760	P21926	CD9_HUMAN	CD9 antigen	143	Extracellular (Potential).				cell adhesion|cellular component movement|fusion of sperm to egg plasma membrane|paranodal junction assembly|platelet activation|platelet degranulation	integral to plasma membrane|platelet alpha granule membrane				ovary(1)	1						GGGAAACGCTGAAAGCCATCC	0.532		NaN											0	0	0	0.009096	0	4	64				
PDZRN4	29951	broad.mit.edu	37	12	41966808	41966808	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr12:41966808G>C	uc010skn.1	+	10	1698	c.1630G>C	c.(1630-1632)GAG>CAG	p.E544Q	PDZRN4_uc001rmq.3_Missense_Mutation_p.E485Q|PDZRN4_uc009zjz.2_Missense_Mutation_p.E483Q|PDZRN4_uc001rmr.2_Missense_Mutation_p.E370Q	NM_013377	NP_037509	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing RING finger 4 isoform 2	743							ubiquitin-protein ligase activity|zinc ion binding			lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1)	11	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				CAACACAGCTGAGAGCTGCAG	0.458		NaN											0	0	0	0.006214	0	9	60				
STAC3	246329	broad.mit.edu	37	12	57638099	57638099	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr12:57638099C>T	uc001snp.2	-	10	1052	c.857G>A	c.(856-858)CGG>CAG	p.R286Q	STAC3_uc009zpl.2_Silent_p.A3A|STAC3_uc001snq.2_Missense_Mutation_p.R247Q|STAC3_uc010srm.1_Missense_Mutation_p.R100Q	NM_145064	NP_659501	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3	286	SH3 1.				intracellular signal transduction		identical protein binding|metal ion binding			ovary(2)|skin(1)	3						TTCTCTCACCCGCCACCATTC	0.552		NaN									OREG0021942	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.014758	0	5	75				
STAC3	246329	broad.mit.edu	37	12	57638949	57638949	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr12:57638949C>G	uc001snp.2	-	7	844	c.649G>C	c.(649-651)GAG>CAG	p.E217Q	STAC3_uc009zpl.2_Intron|STAC3_uc001snq.2_Missense_Mutation_p.E178Q|STAC3_uc010srm.1_Missense_Mutation_p.E31Q	NM_145064	NP_659501	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3	217					intracellular signal transduction		identical protein binding|metal ion binding			ovary(2)|skin(1)	3						TTGCCTTCCTCTGGTCTGGCC	0.592		NaN											0	0	0	0.016723	0	12	117				
R3HDM2	22864	broad.mit.edu	37	12	57648809	57648809	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr12:57648809G>C	uc009zpm.1	-	22	2713	c.2678C>G	c.(2677-2679)TCT>TGT	p.S893C	R3HDM2_uc010srn.1_Intron|R3HDM2_uc001snu.2_Missense_Mutation_p.S588C|R3HDM2_uc001snr.2_Missense_Mutation_p.S620C|R3HDM2_uc001sns.2_Missense_Mutation_p.S893C|R3HDM2_uc001snt.2_Missense_Mutation_p.S907C|R3HDM2_uc009zpn.1_Intron	NM_014925	NP_055740	Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	893						nucleus	nucleic acid binding			ovary(2)	2						CTTGGCGCCAGACATGGCGAG	0.647		NaN											0	0	0	0.001984	0	5	70				
EID3	493861	broad.mit.edu	37	12	104697894	104697894	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr12:104697894C>T	uc001tkw.2	+	1	346	c.182C>T	c.(181-183)TCG>TTG	p.S61L	TXNRD1_uc010swk.1_Intron|TXNRD1_uc010swl.1_Intron|TXNRD1_uc010swm.1_Intron|TXNRD1_uc010swn.1_Intron|TXNRD1_uc010swo.1_Intron|TXNRD1_uc010swp.1_Intron|TXNRD1_uc010swq.1_Intron|TXNRD1_uc001tku.2_Intron|TXNRD1_uc001tko.1_Intron|TXNRD1_uc001tkp.1_Intron|TXNRD1_uc001tkv.1_Intron	NM_001008394	NP_001008395	Q8N140	EID3_HUMAN	EP300 interacting inhibitor of differentiation	61					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus					0						ATCGTGAGCTCGGCGAACAAC	0.612		NaN											0	0	0	0.014758	0	5	50				
NUAK1	9891	broad.mit.edu	37	12	106460646	106460646	+	Silent	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr12:106460646G>A	uc001tlj.1	-	7	3300	c.1920C>T	c.(1918-1920)CTC>CTT	p.L640L		NM_014840	NP_055655	O60285	NUAK1_HUMAN	AMPK-related protein kinase 5	640							ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(1)|central_nervous_system(1)	2						CCATGTCTGTGAGGAGGGAGA	0.627		NaN											0	0	0	0.001984	0	6	96				
TRPV4	59341	broad.mit.edu	37	12	110230175	110230175	+	Silent	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr12:110230175G>A	uc001tpj.1	-	11	1979	c.1884C>T	c.(1882-1884)TAC>TAT	p.Y628Y	TRPV4_uc001tpg.1_Silent_p.Y594Y|TRPV4_uc001tph.1_Silent_p.Y581Y|TRPV4_uc001tpi.1_Silent_p.Y521Y|TRPV4_uc001tpk.1_Silent_p.Y628Y|TRPV4_uc001tpl.1_Silent_p.Y568Y	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel,	628	Helical; (Potential).				actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						CACCTGAAGCGTAGCCGATCA	0.537		NaN											0	0	0	0.014758	0	5	27				
DTX1	1840	broad.mit.edu	37	12	113515265	113515265	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr12:113515265C>G	uc001tuk.1	+	2	632	c.296C>G	c.(295-297)CCG>CGG	p.P99R		NM_004416	NP_004407	Q86Y01	DTX1_HUMAN	deltex homolog 1	99	WWE 2.				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			lung(2)|ovary(1)|central_nervous_system(1)	4						TTCTACGACCCGTCGTCGGCG	0.667		NaN											0	0	0	0.009096	0	4	54				
MPHOSPH9	10198	broad.mit.edu	37	12	123706297	123706297	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr12:123706297G>A	uc001uel.2	-	1	145	c.38C>T	c.(37-39)TCT>TTT	p.S13F	MPHOSPH9_uc010tal.1_5'UTR|MPHOSPH9_uc010tam.1_RNA|MPHOSPH9_uc001uem.2_5'UTR	NM_022782	NP_073619	Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	13					M phase of mitotic cell cycle	centriole|Golgi membrane					0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		ATGGATAACAGATTCATTTCT	0.398		NaN											0	0	0	0.014758	0	5	80				
PABPC3	5042	broad.mit.edu	37	13	25670975	25670975	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr13:25670975G>T	uc001upy.2	+	1	700	c.639G>T	c.(637-639)AAG>AAT	p.K213N		NM_030979	NP_112241	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	213	RRM 3.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			ovary(3)|skin(1)	4		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TCTTTGGCAAGTTCGGGCCCG	0.428		NaN											1	0	1.23904e-05	0.014758	1.34354e-05	5	61				
C13orf34	79866	broad.mit.edu	37	13	73317730	73317730	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr13:73317730G>C	uc001viv.1	+	6	563	c.444G>C	c.(442-444)GAG>GAC	p.E148D	C13orf34_uc010thq.1_5'UTR|C13orf34_uc010aen.1_Missense_Mutation_p.E223D|C13orf34_uc010thr.1_Missense_Mutation_p.E78D|C13orf34_uc001viw.1_Missense_Mutation_p.E97D	NM_024808	NP_079084	Q6PGQ7	BORA_HUMAN	aurora borealis	148					cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization		protein kinase binding				0		Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.000227)		TTCATTCTGAGAAAAGCGATG	0.343		NaN											0	0	0	0.014758	0	4	51				
TGM1	7051	broad.mit.edu	37	14	24727874	24727874	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr14:24727874G>A	uc001wod.2	-	8	1289	c.1165C>T	c.(1165-1167)CGC>TGC	p.R389C	TGM1_uc010tog.1_Intron	NM_000359	NP_000350	P22735	TGM1_HUMAN	transglutaminase 1	389			R -> H (in NCIE).|R -> P (in ARCI-TGM1).		cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	CCCAGGCAGCGCAGCACTGTG	0.567		NaN											0	0	0	0.009096	0	4	38				
STON2	85439	broad.mit.edu	37	14	81744238	81744238	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr14:81744238C>T	uc010tvu.1	-	4	1618	c.1417G>A	c.(1417-1419)GAG>AAG	p.E473K	STON2_uc001xvk.1_Missense_Mutation_p.E473K|STON2_uc010tvt.1_Missense_Mutation_p.E270K	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	stonin 2	473	SHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			skin(3)|pancreas(2)	5				BRCA - Breast invasive adenocarcinoma(234;0.0348)		AGCTTGAACTCACGGAATGGT	0.493		NaN											0	0	0	0.001984	0	7	169				
PPP1R13B	23368	broad.mit.edu	37	14	104263749	104263749	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr14:104263749C>T	uc001yof.1	-	2	399	c.116G>A	c.(115-117)GGA>GAA	p.G39E	PPP1R13B_uc001yog.1_5'UTR	NM_015316	NP_056131	Q96KQ4	ASPP1_HUMAN	apoptosis-stimulating protein of p53, 1	39					apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			ovary(1)	1		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				GCTGCCTTCTCCAGGTTCCTT	0.378		NaN											0	0	0	0.008871	0	17	116				
C14orf2	9556	broad.mit.edu	37	14	104381411	104381411	+	Missense_Mutation	SNP	C	C	T	rs149160111	byFrequency	TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr14:104381411C>T	uc001yoi.3	-	2	213	c.116G>A	c.(115-117)CGG>CAG	p.R39Q	C14orf2_uc001yoj.3_Missense_Mutation_p.R56Q|C14orf2_uc010aww.1_Missense_Mutation_p.R39Q|C14orf2_uc001yok.2_Missense_Mutation_p.R39Q	NM_004894	NP_004885	P56378	68MP_HUMAN	6.8 kDa mitochondrial proteolipid isoform 1	39						mitochondrion					0				Epithelial(152;0.223)		ACCAGCAGCCCGGATTTTATA	0.383		NaN											0	0	0	0.001168	0	4	58				
MKRN3	7681	broad.mit.edu	37	15	23811314	23811314	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr15:23811314G>A	uc001ywh.3	+	1	861	c.385G>A	c.(385-387)GAG>AAG	p.E129K	MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Missense_Mutation_p.E129K	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	129						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			lung(6)|large_intestine(2)|ovary(2)	10		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GATGGCCACTGAGGGTGGCGT	0.622		NaN											0	0	0	0.001984	0	5	42				
MAP1A	4130	broad.mit.edu	37	15	43820200	43820200	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr15:43820200C>A	uc001zrt.2	+	4	6996	c.6529C>A	c.(6529-6531)CCC>ACC	p.P2177T		NM_002373	NP_002364	P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2177						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(3)|breast(3)|pancreas(2)|skin(1)	9		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GCAGCCAGCTCCCCCACAGCT	0.652		NaN											1	0	3.83957e-06	0.016522	4.1971e-06	20	146				
FRMD5	84978	broad.mit.edu	37	15	44181066	44181066	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr15:44181066C>G	uc001ztl.2	-	9	910	c.733G>C	c.(733-735)GAG>CAG	p.E245Q	FRMD5_uc001ztj.1_5'UTR|FRMD5_uc001ztk.1_Missense_Mutation_p.E156Q|FRMD5_uc001ztm.2_5'UTR|FRMD5_uc001ztn.2_Missense_Mutation_p.E11Q	NM_032892	NP_116281	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5 isoform 2	245	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			ovary(1)	1		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		TTGGTCACCTCATTCCTAGAA	0.478		NaN											0	0	0	0.001984	0	7	52				
SPPL2A	84888	broad.mit.edu	37	15	51041038	51041038	+	Silent	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr15:51041038G>A	uc001zyv.2	-	3	387	c.207C>T	c.(205-207)TCC>TCT	p.S69S		NM_032802	NP_116191	Q8TCT8	PSL2_HUMAN	signal peptide peptidase-like 2A	69	Cytoplasmic (Potential).|PA.					integral to membrane	aspartic-type endopeptidase activity				0				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		ATAGTGGTGTGGAAGTCAGAT	0.353		NaN											0	0	0	0.013537	0	11	106				
MCTP2	55784	broad.mit.edu	37	15	95019959	95019959	+	Silent	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr15:95019959C>T	uc002btj.2	+	21	2570	c.2505C>T	c.(2503-2505)CCC>CCT	p.P835P	MCTP2_uc010boj.2_Silent_p.P564P|MCTP2_uc010bok.2_Silent_p.P780P|MCTP2_uc002btl.2_Silent_p.P423P	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2 isoform 1	835					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			ovary(1)|pancreas(1)|skin(1)	3	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TTCGAAATCCCTATTCCATCG	0.308		NaN											0	0	0	0.004482	0	8	59				
TXNDC11	51061	broad.mit.edu	37	16	11773514	11773514	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr16:11773514C>G	uc010buu.1	-	13	2557	c.2495G>C	c.(2494-2496)AGA>ACA	p.R832T	TXNDC11_uc002dbg.1_Missense_Mutation_p.R805T	NM_015914	NP_056998	Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	832	Potential.				cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane					0						CTGGATCTCTCTCTCCAAGTG	0.582		NaN											0	0	0	0.001168	0	5	39				
TMC5	79838	broad.mit.edu	37	16	19501754	19501754	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr16:19501754C>G	uc002dgc.3	+	18	3360	c.2611C>G	c.(2611-2613)CTG>GTG	p.L871V	TMC5_uc010vaq.1_Missense_Mutation_p.L819V|TMC5_uc002dgb.3_Intron|TMC5_uc010var.1_Missense_Mutation_p.L871V|TMC5_uc002dgd.1_Missense_Mutation_p.L625V|TMC5_uc002dge.3_Missense_Mutation_p.L625V|TMC5_uc002dgf.3_Missense_Mutation_p.L554V|TMC5_uc002dgg.3_Missense_Mutation_p.L512V	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5 isoform a	871	Cytoplasmic (Potential).					integral to membrane				skin(1)	1						TTTTCGAGGTCTGCCTCTCTT	0.478		NaN											0	0	0	0.007413	0	19	116				
PAPD5	64282	broad.mit.edu	37	16	50257151	50257151	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr16:50257151G>A	uc010vgo.1	+	8	1224	c.1189G>A	c.(1189-1191)GAA>AAA	p.E397K	PAPD5_uc010cbi.2_RNA|PAPD5_uc002efz.2_Missense_Mutation_p.E188K|PAPD5_uc002ega.2_Missense_Mutation_p.E188K	NM_001040284	NP_001035374	Q8NDF8	PAPD5_HUMAN	PAP associated domain containing 5 isoform a	318	PAP-associated.				cell division|DNA replication|histone mRNA catabolic process|mitosis	cytoplasm|nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding				0		all_cancers(37;0.0452)		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)		AGAATTTTTTGAATTATATGG	0.343		NaN											0	0	0	0.009096	0	4	59				
CX3CL1	6376	broad.mit.edu	37	16	57406489	57406489	+	Silent	SNP	G	G	A	rs150111366		TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr16:57406489G>A	uc002eli.2	+	1	76	c.9G>A	c.(7-9)CCG>CCA	p.P3P		NM_002996	NP_002987	P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1 precursor	3					cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity				0						CCATGGCTCCGATATCTCTGT	0.657		NaN											0	0	0	0.020292	0	12	42				
CDH11	1009	broad.mit.edu	37	16	64984875	64984875	+	Silent	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr16:64984875C>T	uc002eoi.2	-	12	2123	c.1689G>A	c.(1687-1689)CAG>CAA	p.Q563Q	CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_Silent_p.Q563Q|CDH11_uc010vin.1_Silent_p.Q437Q	NM_001797	NP_001788	P55287	CAD11_HUMAN	cadherin 11, type 2 preproprotein	563	Cadherin 5.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			lung(10)|ovary(3)|skin(1)	14		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		AGTCCTGCTTCTGCCGACTGA	0.592		NaN	T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			0	0	0	0.013537	0	11	32				
CTCF	10664	broad.mit.edu	37	16	67662347	67662347	+	Silent	SNP	C	C	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr16:67662347C>A	uc002etl.2	+	9	1883	c.1593C>A	c.(1591-1593)ACC>ACA	p.T531T	CTCF_uc010cek.2_Silent_p.T203T|CTCF_uc002etm.1_Silent_p.T20T	NM_006565	NP_006556	P49711	CTCF_HUMAN	CCCTC-binding factor	531	C2H2-type 10.				chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		GCGATAAGACCTTCCGCCAGA	0.547		NaN											1	0	1.10513e-12	0.014323	1.25372e-12	23	76				
NUDT7	283927	broad.mit.edu	37	16	77759451	77759451	+	Silent	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr16:77759451C>G	uc010chd.2	+	2	228	c.159C>G	c.(157-159)CTC>CTG	p.L53L	NUDT7_uc002fff.2_Silent_p.L53L|NUDT7_uc010vnj.1_Silent_p.L53L	NM_001105663	NP_001099133	P0C024	NUDT7_HUMAN	nudix motif 7	53	Nudix hydrolase.				nucleoside diphosphate metabolic process	peroxisome	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides|magnesium ion binding|manganese ion binding			ovary(1)|kidney(1)	2						AAGGAAAACTCCATTTGTTGT	0.428		NaN											0	0	0	0.003163	0	12	41				
PRPF8	10594	broad.mit.edu	37	17	1562039	1562039	+	Silent	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr17:1562039G>A	uc002fte.2	-	33	5271	c.5157C>T	c.(5155-5157)TTC>TTT	p.F1719F		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	U5 snRNP-specific protein	1719	Involved in interaction with pre-mRNA 5' splice site.					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			lung(4)|ovary(2)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TGCTGCCTGGGAACCAGTTTC	0.507		NaN											0	0	0	0.001984	0	6	60				
DNAH2	146754	broad.mit.edu	37	17	7721269	7721269	+	Silent	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr17:7721269G>C	uc002giu.1	+	67	10256	c.10242G>C	c.(10240-10242)CTG>CTC	p.L3414L	DNAH2_uc010cnm.1_Silent_p.L352L	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	3414	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TCTAGGGCCTGAAGATCATCG	0.577		NaN											0	0	0	0.003163	0	13	103				
GUCY2D	3000	broad.mit.edu	37	17	7915609	7915609	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr17:7915609C>T	uc002gjt.2	+	9	1971	c.1897C>T	c.(1897-1899)CAG>TAG	p.Q633*		NM_000180	NP_000171	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	633	Protein kinase.|Cytoplasmic (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				CCTCCTCGCTCAGAGAGAAAT	0.632		NaN											0	0	0	0.009096	0	4	56				
KRT28	162605	broad.mit.edu	37	17	38955182	38955182	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr17:38955182C>A	uc002hvh.1	-	2	586	c.520G>T	c.(520-522)GAT>TAT	p.D174Y		NM_181535	NP_853513	Q7Z3Y7	K1C28_HUMAN	keratin 25D	174	Rod.|Coil 1B.					cytoplasm|intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)				AGCCTGAAATCATCAGCAGCC	0.318		NaN											1	0	1.26484e-09	0.00308	1.41119e-09	6	122				
BRIP1	83990	broad.mit.edu	37	17	59926522	59926522	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr17:59926522T>C	uc002izk.1	-	5	616	c.475A>G	c.(475-477)AAA>GAA	p.K159E		NM_032043	NP_114432	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	159	Nuclear localization signal (Potential).|Helicase ATP-binding.				DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			ovary(1)	1						CGAATTCTTTTCTTCTCTACT	0.378		NaN	F|N|Mis			AML|leukemia|breast		Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				0	0	0	0.020292	0	15	92				
SCN4A	6329	broad.mit.edu	37	17	62038715	62038715	+	Silent	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr17:62038715G>A	uc002jds.1	-	11	1760	c.1683C>T	c.(1681-1683)TGC>TGT	p.C561C		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	561					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)	GCCACGGGGCGCAGCAGTTCC	0.562		NaN											0	0	0	0.008291	0	9	197				
CSNK1D	1453	broad.mit.edu	37	17	80223620	80223620	+	Silent	SNP	T	T	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr17:80223620T>C	uc002kej.2	-	2	445	c.129A>G	c.(127-129)AAA>AAG	p.K43K	CSNK1D_uc002kef.2_Silent_p.K43K|CSNK1D_uc002kei.2_Silent_p.K43K|CSNK1D_uc010wvj.1_5'UTR	NM_001893	NP_001884	P48730	KC1D_HUMAN	casein kinase 1, delta isoform 1	43	Protein kinase.				circadian regulation of gene expression|DNA repair|G2/M transition of mitotic cell cycle|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|regulation of circadian rhythm|Wnt receptor signaling pathway	centrosome|cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)	2	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)			GGTGTTTGGTTTTGACACATT	0.463		NaN											0	0	0	0.00308	0	7	127				
EMILIN2	84034	broad.mit.edu	37	18	2913063	2913063	+	Splice_Site	SNP	A	A	C	rs113730111		TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr18:2913063A>C	uc002kln.2	+	8	2984	c.2825_splice	c.e8-2	p.G942_splice		NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2 precursor						cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			skin(2)|ovary(1)	3				READ - Rectum adenocarcinoma(2;0.1)		TTCTCCCCGCAGGGGTCTTCA	0.617		NaN											0	0	0	0.009096	0	4	39				
C18orf8	29919	broad.mit.edu	37	18	21083604	21083604	+	Silent	SNP	C	C	T	rs143953070	byFrequency	TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr18:21083604C>T	uc010xax.1	+	1	143	c.22C>T	c.(22-24)CTG>TTG	p.L8L	C18orf8_uc010xau.1_5'UTR|C18orf8_uc010xav.1_Silent_p.L8L|C18orf8_uc010xaw.1_5'UTR|C18orf8_uc002kul.2_RNA	NM_013326	NP_037458	Q96DM3	MIC1_HUMAN	colon cancer-associated protein Mic1	8										ovary(1)	1	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GGACTACTATCTGGAGCTGTG	0.537		NaN											0	0	0	0.009096	0	4	38				
ATP5A1	498	broad.mit.edu	37	18	43668178	43668178	+	Silent	SNP	G	G	A	rs59386231		TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr18:43668178G>A	uc002lbr.1	-	6	786	c.696C>T	c.(694-696)TTC>TTT	p.F232F	ATP5A1_uc010dnl.1_Silent_p.F182F|ATP5A1_uc002lbs.1_Silent_p.F182F|ATP5A1_uc002lbt.1_Silent_p.F232F	NM_004046	NP_004037	P25705	ATPA_HUMAN	ATP synthase, H+ transporting, mitochondrial F1	232					ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain	mitochondrial matrix|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism				0						ATCCATCATTGAAACGTTTCT	0.343		NaN											0	0	0	0.004482	0	7	85				
KATNAL2	83473	broad.mit.edu	37	18	44593394	44593394	+	Silent	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr18:44593394C>T	uc002lco.2	+	8	707	c.513C>T	c.(511-513)GAC>GAT	p.D171D	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lcp.3_Intron	NM_031303	NP_112593	Q8IYT4	KATL2_HUMAN	katanin p60 subunit A-like 2	243						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			ovary(1)|skin(1)|central_nervous_system(1)|pancreas(1)	4						CATTGCAGGACATTTATCTCC	0.353		NaN											0	0	0	0.009096	0	4	34				
CDH20	28316	broad.mit.edu	37	18	59206358	59206358	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr18:59206358G>C	uc010dps.1	+	8	1522	c.1510G>C	c.(1510-1512)GAG>CAG	p.E504Q	CDH20_uc002lif.2_Missense_Mutation_p.E498Q	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	cadherin 20, type 2 preproprotein	504	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|ovary(1)|pancreas(1)	5		Colorectal(73;0.186)				TTTTGTCTGTGAGAACGCCAA	0.463		NaN											0	0	0	0.014323	0	20	121				
PRTN3	5657	broad.mit.edu	37	19	843531	843531	+	Silent	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr19:843531C>T	uc002lqa.1	+	2	156	c.132C>T	c.(130-132)TCC>TCT	p.S44S		NM_002777	NP_002768	P24158	PRTN3_HUMAN	myeloblastin	44	Peptidase S1.				collagen catabolic process|positive regulation of cell proliferation|proteolysis		protein binding|serine-type endopeptidase activity			ovary(1)	1		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACATGGCCTCCCTGCAGATGC	0.706		NaN											0	0	0	0.009096	0	3	4				
DPP9	91039	broad.mit.edu	37	19	4704192	4704192	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr19:4704192G>C	uc002mba.2	-	6	809	c.551C>G	c.(550-552)GCC>GGC	p.A184G	DPP9_uc002mbb.2_Missense_Mutation_p.A184G|DPP9_uc002mbc.2_Missense_Mutation_p.A184G	NM_139159	NP_631898	Q86TI2	DPP9_HUMAN	dipeptidylpeptidase 9	155					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			skin(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		GCTGTTGCTGGCCTGGAAGAG	0.672		NaN											0	0	0	0.004672	0	3	56				
EVI5L	115704	broad.mit.edu	37	19	7917998	7917998	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr19:7917998G>C	uc002min.2	+	9	1168	c.1014G>C	c.(1012-1014)CAG>CAC	p.Q338H	EVI5L_uc010xjz.1_Missense_Mutation_p.Q338H|EVI5L_uc002mio.1_Missense_Mutation_p.Q69H	NM_145245	NP_660288	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like isoform	338						intracellular	protein binding|Rab GTPase activator activity			ovary(1)	1						TCCCCCACCAGTTCGACAGCT	0.617		NaN									OREG0025211	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.004482	0	7	161				
SLC7A9	11136	broad.mit.edu	37	19	33355033	33355033	+	Silent	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr19:33355033G>A	uc002ntv.3	-	4	564	c.447C>T	c.(445-447)ATC>ATT	p.I149I	SLC7A9_uc002ntt.3_RNA|SLC7A9_uc002ntu.3_Silent_p.I149I|SLC7A9_uc002ntw.3_5'UTR	NM_001126335	NP_001119807	P82251	BAT1_HUMAN	solute carrier family 7, member 9	149	Helical; (Potential).				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			skin(1)	1	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	ATTTCACAACGATTTGAGGAG	0.597		NaN											0	0	0	0.00308	0	4	52				
USF2	7392	broad.mit.edu	37	19	35769607	35769607	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr19:35769607G>A	uc002nyq.1	+	8	843	c.734G>A	c.(733-735)CGG>CAG	p.R245Q	USF2_uc010xss.1_Missense_Mutation_p.R245Q|USF2_uc002nyr.1_Missense_Mutation_p.R178Q|USF2_uc002nys.1_Missense_Mutation_p.R47Q|USF2_uc002nyt.1_Missense_Mutation_p.R114Q|USF2_uc002nyu.1_Missense_Mutation_p.R47Q|USF2_uc002nyv.1_Missense_Mutation_p.R47Q	NM_003367	NP_003358	Q15853	USF2_HUMAN	upstream stimulatory factor 2 isoform 1	245	Poly-Arg.|Basic motif.				lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter by glucose	nucleus	bHLH transcription factor binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity				0	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GCAGTGGAGCGGAGGCGGAGG	0.597		NaN											0	0	0	0.012213	0	29	162				
LGALS7B	653499	broad.mit.edu	37	19	39281455	39281455	+	Silent	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr19:39281455G>A	uc002ojf.3	+	3	239	c.222G>A	c.(220-222)GAG>GAA	p.E74E		NM_001042507	NP_001035972	P47929	LEG7_HUMAN	galectin-7B	74	Galectin.|Beta-galactoside binding (Potential).				apoptosis|heterophilic cell-cell adhesion	cytoplasm|extracellular space|nucleus	sugar binding				0						GCCGCGAGGAGCGCGGGCCGG	0.677		NaN											0	0	0	0.014758	0	3	19				
CEACAM5	1048	broad.mit.edu	37	19	42224859	42224859	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr19:42224859A>T	uc002ork.2	+	8	1910	c.1789A>T	c.(1789-1791)ATC>TTC	p.I597F	CEACAM5_uc002orj.1_Missense_Mutation_p.I596F|CEACAM5_uc002orl.2_Missense_Mutation_p.I597F	NM_004363	NP_004354	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion	597	Ig-like 7.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				skin(2)	2				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		GGACACCCCCATCATTTCCCC	0.552		NaN											0	0	0	0.008361	0	27	157				
PSG1	5669	broad.mit.edu	37	19	43372318	43372318	+	Missense_Mutation	SNP	A	A	G	rs1058795		TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr19:43372318A>G	uc002ovb.2	-	5	1316	c.1178T>C	c.(1177-1179)GTT>GCT	p.V393A	PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG1_uc002oun.2_Intron|PSG1_uc002our.1_Missense_Mutation_p.V393A|PSG1_uc010eio.1_Missense_Mutation_p.V393A|PSG1_uc002oux.1_Missense_Mutation_p.V322A|PSG1_uc002ouy.1_Missense_Mutation_p.V300A|PSG1_uc002ouz.1_Missense_Mutation_p.V393A|PSG1_uc002ova.1_Missense_Mutation_p.V300A|PSG1_uc002ovc.2_Missense_Mutation_p.V300A|PSG1_uc002ovd.1_Missense_Mutation_p.V393A	NM_006905	NP_008836	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	393	Ig-like C2-type 3.				female pregnancy	extracellular region				ovary(2)	2		Prostate(69;0.00682)				AACAGAGCAAACATAGAGCCC	0.458		NaN											0	0	0	0.009535	0	28	258				
PSG1	5669	broad.mit.edu	37	19	43372335	43372335	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr19:43372335C>A	uc002ovb.2	-	5	1299	c.1161G>T	c.(1159-1161)AAG>AAT	p.K387N	PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG1_uc002oun.2_Intron|PSG1_uc002our.1_Missense_Mutation_p.K387N|PSG1_uc010eio.1_Missense_Mutation_p.K387N|PSG1_uc002oux.1_Missense_Mutation_p.K316N|PSG1_uc002ouy.1_Missense_Mutation_p.K294N|PSG1_uc002ouz.1_Missense_Mutation_p.K387N|PSG1_uc002ova.1_Missense_Mutation_p.K294N|PSG1_uc002ovc.2_Missense_Mutation_p.K294N|PSG1_uc002ovd.1_Missense_Mutation_p.K387N	NM_006905	NP_008836	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	387	Ig-like C2-type 3.				female pregnancy	extracellular region				ovary(2)	2		Prostate(69;0.00682)				GCCCGCTATGCTTTGTAGTAA	0.463		NaN											1	0	5.8336e-16	0.015359	6.64588e-16	31	254				
SLC17A7	57030	broad.mit.edu	37	19	49934671	49934671	+	Silent	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr19:49934671G>C	uc002pnp.2	-	10	1357	c.1185C>G	c.(1183-1185)GTC>GTG	p.V395V	SLC17A7_uc002pno.2_Intron	NM_020309	NP_064705	Q9P2U7	VGLU1_HUMAN	solute carrier family 17, member 7	395	Helical; (Potential).				glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			ovary(1)|pancreas(1)|skin(1)	3		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		GCGAGTAGCCGACCACCAACA	0.577		NaN											0	0	0	0.006214	0	10	45				
ALDH16A1	126133	broad.mit.edu	37	19	49965942	49965942	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr19:49965942G>T	uc002pnt.2	+	8	1144	c.1028G>T	c.(1027-1029)GGG>GTG	p.G343V	ALDH16A1_uc010yar.1_Missense_Mutation_p.G292V|ALDH16A1_uc010yas.1_Missense_Mutation_p.G178V|ALDH16A1_uc010yat.1_Missense_Mutation_p.G180V	NM_153329	NP_699160	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	343							oxidoreductase activity|protein binding			skin(1)	1		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		GTGGACATGGGGGCCCGGGGG	0.672		NaN											1	0	3.86212e-05	0.008291	4.15447e-05	9	40				
AP2A1	160	broad.mit.edu	37	19	50303343	50303343	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr19:50303343G>A	uc002ppn.2	+	11	1602	c.1391G>A	c.(1390-1392)CGT>CAT	p.R464H	AP2A1_uc010enj.1_Intron|AP2A1_uc002ppo.2_Missense_Mutation_p.R464H|AP2A1_uc002ppp.1_5'Flank	NM_014203	NP_055018	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1	464					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity			ovary(2)	2		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		GTGTGGTACCGTGTGCTACAG	0.592		NaN											0	0	0	0.014758	0	5	17				
ZNF473	25888	broad.mit.edu	37	19	50549435	50549435	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr19:50549435C>G	uc002prn.2	+	5	1972	c.1735C>G	c.(1735-1737)CAG>GAG	p.Q579E	ZNF473_uc002prm.2_Missense_Mutation_p.Q579E|ZNF473_uc010ybo.1_Missense_Mutation_p.Q567E	NM_001006656	NP_001006657	Q8WTR7	ZN473_HUMAN	zinc finger protein 473	579	C2H2-type 11.				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		ATACCTAACTCAGCACGAGAG	0.453		NaN											0	0	0	0.001984	0	7	44				
ZNF577	84765	broad.mit.edu	37	19	52376173	52376173	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr19:52376173C>G	uc010yde.1	-	7	1461	c.1070G>C	c.(1069-1071)AGA>ACA	p.R357T	ZNF577_uc010ydd.1_Intron|ZNF577_uc002pxx.3_Missense_Mutation_p.R298T|ZNF577_uc002pxv.2_Missense_Mutation_p.R350T|ZNF577_uc002pxw.2_Missense_Mutation_p.R291T	NM_032679	NP_116068	Q9BSK1	ZN577_HUMAN	zinc finger protein 577 isoform a	357	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		GCCACATTCTCTGCATGAATA	0.428		NaN											0	0	0	0.009096	0	4	83				
ZNF836	162962	broad.mit.edu	37	19	52658463	52658463	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr19:52658463G>A	uc010ydi.1	-	5	2847	c.2473C>T	c.(2473-2475)CAG>TAG	p.Q825*	ZNF836_uc010ydj.1_Nonsense_Mutation_p.Q825*	NM_001102657	NP_001096127	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	825	C2H2-type 22.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TGCATTTTCTGATGATTAACC	0.398		NaN											0	0	0	0.00632	0	26	132				
ZNF761	388561	broad.mit.edu	37	19	53958025	53958025	+	Silent	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr19:53958025G>A	uc010eqp.2	+	7	722	c.264G>A	c.(262-264)CAG>CAA	p.Q88Q	ZNF761_uc010ydy.1_Silent_p.Q34Q|ZNF761_uc002qbt.1_Silent_p.Q34Q	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN	zinc finger protein 761	88					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.00786)		TTTGCTACCAGGATGTTGATA	0.388		NaN											0	0	0	0.016723	0	14	53				
ISOC2	79763	broad.mit.edu	37	19	55967807	55967807	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr19:55967807G>C	uc002qlb.2	-	2	221	c.47C>G	c.(46-48)TCT>TGT	p.S16C	ISOC2_uc002qla.2_Missense_Mutation_p.S16C|ISOC2_uc002qlc.2_Missense_Mutation_p.S16C	NM_001136201	NP_001129673	Q96AB3	ISOC2_HUMAN	isochorismatase domain containing 2 isoform 1	16					protein destabilization	mitochondrion|nucleus	catalytic activity|protein binding			ovary(1)	1	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0535)		GAACAGGACAGAGGATCCTGG	0.617		NaN											0	0	0	0.008291	0	10	80				
MYT1L	23040	broad.mit.edu	37	2	1812936	1812936	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr2:1812936C>A	uc002qxe.2	-	22	3911	c.3084G>T	c.(3082-3084)TTG>TTT	p.L1028F	MYT1L_uc002qxd.2_Missense_Mutation_p.L1026F|MYT1L_uc010ewk.2_Missense_Mutation_p.L24F	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	1028	C2HC-type 6.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|central_nervous_system(1)	6	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GGCATCCTGACAAGCTGTGGA	0.542		NaN											1	0	2.74318e-10	0.006214	3.07327e-10	8	79				
ROCK2	9475	broad.mit.edu	37	2	11348013	11348013	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr2:11348013T>C	uc002rbd.1	-	20	2837	c.2388A>G	c.(2386-2388)ATA>ATG	p.I796M		NM_004850	NP_004841	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein	796	Potential.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			stomach(2)|skin(2)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TTTCTTGCTCTATTTTTAATG	0.308		NaN											0	0	0	0.001168	0	5	78				
OTOF	9381	broad.mit.edu	37	2	26750716	26750716	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr2:26750716T>C	uc002rhk.2	-	3	338	c.211A>G	c.(211-213)AAA>GAA	p.K71E		NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	71	Cytoplasmic (Potential).				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGAAGACTTTGCTGTAGTTG	0.582		NaN											0	0	0	0.00308	0	7	64				
RBKS	64080	broad.mit.edu	37	2	28081337	28081337	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr2:28081337C>T	uc002rlo.1	-	2	202	c.191G>A	c.(190-192)CGG>CAG	p.R64Q	RBKS_uc010ezi.1_5'UTR|RBKS_uc010ymg.1_Missense_Mutation_p.R64Q	NM_022128	NP_071411	Q9H477	RBSK_HUMAN	ribokinase	64					D-ribose metabolic process		ATP binding|ribokinase activity			ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(172;0.155)					TGCTCCAAGCCGAGCAGCTTG	0.438		NaN											0	0	0	0.009096	0	4	45				
STRN	6801	broad.mit.edu	37	2	37105140	37105140	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr2:37105140C>G	uc002rpn.2	-	10	1226	c.1217G>C	c.(1216-1218)GGA>GCA	p.G406A	STRN_uc010ezx.2_Missense_Mutation_p.G369A	NM_003162	NP_003153	O43815	STRN_HUMAN	striatin, calmodulin binding protein	406					dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding			skin(1)	1		Ovarian(717;0.0129)|all_hematologic(82;0.21)				GAATGACTTTCCAGAAGAAGG	0.438		NaN											0	0	0	0.013537	0	13	163				
ADRA2B	151	broad.mit.edu	37	2	96781355	96781355	+	Silent	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr2:96781355G>A	uc002svi.2	-	1	534	c.534C>T	c.(532-534)ATC>ATT	p.I178I		NM_000682	NP_000673	P18089	ADA2B_HUMAN	alpha-2B-adrenergic receptor	178	Helical; Name=5; (By similarity).				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding			ovary(2)|lung(1)	3					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	AGAAAGATCCGATGCTGGAGG	0.637		NaN											0	0	0	0.004672	0	3	32				
GYPC	2995	broad.mit.edu	37	2	127447889	127447889	+	Splice_Site	SNP	T	T	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr2:127447889T>A	uc002tnq.2	+	2	262	c.106_splice	c.e2+2	p.E36_splice	GYPC_uc002tnr.2_Intron|GYPC_uc010flv.2_Splice_Site	NM_002101	NP_002092	P04921	GLPC_HUMAN	glycophorin C isoform 1							cortical cytoskeleton|integral to plasma membrane	protein binding			central_nervous_system(1)	1	Colorectal(110;0.0533)			BRCA - Breast invasive adenocarcinoma(221;0.075)		CCATTGCAGGTGAGTTCTCAT	0.527		NaN											0	0	0	0.004672	0	3	41				
LRP1B	53353	broad.mit.edu	37	2	141215109	141215109	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr2:141215109G>T	uc002tvj.1	-	61	10709	c.9737C>A	c.(9736-9738)GCA>GAA	p.A3246E		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3246	Extracellular (Potential).|LDL-receptor class B 32.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GAGTCTGTCTGCTCCCGATGT	0.423		NaN								TSP Lung(27;0.18)			1	0	2.17888e-05	0.006214	2.35319e-05	10	74				
RIF1	55183	broad.mit.edu	37	2	152321463	152321463	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr2:152321463C>T	uc002txm.2	+	30	5559	c.5429C>T	c.(5428-5430)TCA>TTA	p.S1810L	RIF1_uc002txl.2_Missense_Mutation_p.S1810L|RIF1_uc002txn.2_Missense_Mutation_p.S1810L|RIF1_uc002txo.2_Missense_Mutation_p.S1810L|RIF1_uc002txp.2_RNA	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	RAP1 interacting factor 1	1810					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15				BRCA - Breast invasive adenocarcinoma(221;0.0429)		ATTAATGATTCATTAATTGTT	0.303		NaN											0	0	0	0.004482	0	8	49				
NEB	4703	broad.mit.edu	37	2	152484043	152484043	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr2:152484043C>G	uc010fnx.2	-	65	9599	c.9408G>C	c.(9406-9408)CAG>CAC	p.Q3136H		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	3136	Nebulin 85.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCACATCGCTCTGGAGGTCAT	0.473		NaN											0	0	0	0.006214	0	8	138				
RAPGEF4	11069	broad.mit.edu	37	2	173879313	173879313	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr2:173879313G>A	uc002uhv.3	+	18	1967	c.1780G>A	c.(1780-1782)GAG>AAG	p.E594K	RAPGEF4_uc002uhw.3_Missense_Mutation_p.E450K	NM_007023	NP_008954	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	594	N-terminal Ras-GEF.				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.194)			CCTCCTGCAAGAGGATGACGT	0.502		NaN											0	0	0	0.014758	0	4	30				
ZAK	51776	broad.mit.edu	37	2	174047626	174047626	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr2:174047626A>G	uc002uhz.2	+	4	492	c.292A>G	c.(292-294)AGA>GGA	p.R98G	ZAK_uc002uhx.2_Missense_Mutation_p.R98G|ZAK_uc002uhy.2_Missense_Mutation_p.R98G|ZAK_uc010zei.1_5'UTR|ZAK_uc002uia.1_Missense_Mutation_p.R98G	NM_016653	NP_057737	Q9NYL2	MLTK_HUMAN	MLK-related kinase isoform 1	98	Protein kinase.				activation of JUN kinase activity|activation of MAPKK activity|cell cycle arrest|cell death|cell differentiation|cell proliferation|DNA damage checkpoint|positive regulation of apoptosis|response to radiation	cytoplasm|nucleus	ATP binding|identical protein binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			lung(3)|stomach(1)|ovary(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.176)			TAACAGTAACAGAAGTGAGGA	0.323		NaN											0	0	0	0.001984	0	6	33				
TTN	7273	broad.mit.edu	37	2	179440352	179440352	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr2:179440352A>C	uc010zfg.1	-	275	63027	c.62803T>G	c.(62803-62805)TGT>GGT	p.C20935G	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.C14630G|TTN_uc010zfi.1_Missense_Mutation_p.C14563G|TTN_uc010zfj.1_Missense_Mutation_p.C14438G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	21862							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)			AAATATTCACACCCTTCAGAC	0.438		NaN											0	0	0	0.017118	0	10	83				
COL5A2	1290	broad.mit.edu	37	2	189931119	189931119	+	Silent	SNP	T	T	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr2:189931119T>C	uc002uqk.2	-	23	1835	c.1560A>G	c.(1558-1560)GAA>GAG	p.E520E	COL5A2_uc010frx.2_Silent_p.E96E	NM_000393	NP_000384	P05997	CO5A2_HUMAN	alpha 2 type V collagen preproprotein	520					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)			AATTTACCCTTTCTCCCACTG	0.453		NaN											0	0	0	0.010729	0	11	177				
TMEFF2	23671	broad.mit.edu	37	2	192818461	192818461	+	Silent	SNP	A	A	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr2:192818461A>T	uc002utc.2	-	9	1366	c.972T>A	c.(970-972)GCT>GCA	p.A324A		NM_016192	NP_057276	Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two	324	Helical; (Potential).					extracellular region|integral to membrane				lung(2)|pancreas(1)|breast(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			TTCCAATCACAGCTGCGATTA	0.433		NaN											0	0	0	0.008291	0	9	46				
FN1	2335	broad.mit.edu	37	2	216259329	216259329	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr2:216259329C>T	uc002vfa.2	-	24	3984	c.3718G>A	c.(3718-3720)GGC>AGC	p.G1240S	FN1_uc002vfb.2_Missense_Mutation_p.G1240S|FN1_uc002vfc.2_Missense_Mutation_p.G1240S|FN1_uc002vfd.2_Missense_Mutation_p.G1240S|FN1_uc002vfe.2_Missense_Mutation_p.G1240S|FN1_uc002vff.2_Missense_Mutation_p.G1240S|FN1_uc002vfg.2_Missense_Mutation_p.G1240S|FN1_uc002vfh.2_Missense_Mutation_p.G1240S|FN1_uc002vfi.2_Missense_Mutation_p.G1240S|FN1_uc002vfj.2_Missense_Mutation_p.G1240S|FN1_uc002vez.2_5'Flank|FN1_uc010zjp.1_5'Flank	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	1240	Fibronectin type-III 7.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TACTCCAGGCCGGGACTCAGG	0.453		NaN											0	0	0	0.004482	0	7	145				
B3GNT7	93010	broad.mit.edu	37	2	232263313	232263313	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr2:232263313C>T	uc002vrs.2	+	2	1063	c.883C>T	c.(883-885)CCG>TCG	p.P295S		NM_145236	NP_660279	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal	295	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity				0		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		GGCCAGCTATCCGCCGTATGC	0.647		NaN											0	0	0	0.009096	0	4	25				
INPP5D	3635	broad.mit.edu	37	2	234098579	234098579	+	Silent	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr2:234098579C>T	uc010zmo.1	+	21	2595	c.2442C>T	c.(2440-2442)TCC>TCT	p.S814S	INPP5D_uc010zmp.1_Silent_p.S813S	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	SH2 containing inositol phosphatase isoform a	814					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			ovary(1)|central_nervous_system(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		GCGACGAATCCTATGGTAAGG	0.567		NaN											0	0	0	0.014758	0	5	45				
MTERFD2	130916	broad.mit.edu	37	2	242035456	242035456	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr2:242035456G>A	uc002wan.1	-	3	1683	c.1190C>T	c.(1189-1191)GCG>GTG	p.A397V	MTERFD2_uc010zoj.1_Missense_Mutation_p.A180V	NM_182501	NP_872307	Q7Z6M4	MTER2_HUMAN	MTERF domain containing 2	368										ovary(1)	1		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		attgtcctccgcctcgtcgtc	0.194		NaN											0	0	0	0.014758	0	5	64				
C20orf26	26074	broad.mit.edu	37	20	20144789	20144789	+	Silent	SNP	C	C	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr20:20144789C>A	uc002wru.2	+	11	1198	c.1122C>A	c.(1120-1122)CCC>CCA	p.P374P	C20orf26_uc010gcw.1_Silent_p.P328P|C20orf26_uc010zse.1_Silent_p.P374P|C20orf26_uc010zsf.1_Silent_p.P374P	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	hypothetical protein LOC26074	374										ovary(3)|pancreas(1)	4				READ - Rectum adenocarcinoma(2;0.171)		CTGAAGAGCCCGTCCACTTCC	0.478		NaN											1	0	7.48243e-07	0.006214	8.24594e-07	9	88				
XRN2	22803	broad.mit.edu	37	20	21312985	21312985	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr20:21312985C>G	uc002wsf.1	+	9	860	c.765C>G	c.(763-765)TTC>TTG	p.F255L	XRN2_uc002wsg.1_Missense_Mutation_p.F179L|XRN2_uc010zsk.1_Missense_Mutation_p.F201L	NM_012255	NP_036387	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	255					cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			skin(1)	1						GAGAAGAATTCAAACCAAACA	0.388		NaN											0	0	0	0.001168	0	6	48				
RUNX1	861	broad.mit.edu	37	21	36421143	36421143	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr21:36421143C>G	uc010gmu.2	-	2	198	c.54G>C	c.(52-54)ATG>ATC	p.M18I	RUNX1_uc002yut.1_RNA|RUNX1_uc010gmv.2_Missense_Mutation_p.M18I|RUNX1_uc002yuj.3_5'UTR|RUNX1_uc002yuk.3_Missense_Mutation_p.M18I|RUNX1_uc002yum.1_5'UTR|RUNX1_uc010gmw.1_Missense_Mutation_p.M18I	NM_001754	NP_001745	Q01196	RUNX1_HUMAN	runt-related transcription factor 1 isoform	Error:Variant_position_missing_in_Q01196_after_alignment					myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus|nucleus	ATP binding|calcium ion binding|DNA binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(383)|lung(2)|ovary(1)|central_nervous_system(1)	387						ACTCACCTCTCATGAAGCACT	0.483		NaN	T	RPL22|MDS1|EVI1|CBFA2T3|CBFA2T1|ETV6|LAF4	AML|preB- ALL|T-ALL				Platelet_disorder_associated_with_Myeloid_Malignancies				0	0	0	0.001984	0	6	172				
WDR4	10785	broad.mit.edu	37	21	44272389	44272389	+	Missense_Mutation	SNP	G	G	A	rs147294240	byFrequency	TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr21:44272389G>A	uc002zci.2	-	10	1094	c.1021C>T	c.(1021-1023)CGT>TGT	p.R341C	WDR4_uc002zck.1_Missense_Mutation_p.R341C|WDR4_uc002zcl.1_Missense_Mutation_p.R195C|WDR4_uc010gpg.1_Missense_Mutation_p.R340C|WDR4_uc011aew.1_Missense_Mutation_p.R195C|WDR4_uc010gph.1_Missense_Mutation_p.R195C	NM_033661	NP_387510	P57081	WDR4_HUMAN	WD repeat domain 4 protein	341					tRNA modification	cytoplasm|nucleoplasm	protein binding			ovary(1)	1				Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)		CAGTTCCCACGAAGAACACCA	0.567		NaN											0	0	0	0.014758	0	4	24				
WDR4	10785	broad.mit.edu	37	21	44274683	44274683	+	Silent	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr21:44274683G>C	uc002zci.2	-	8	853	c.780C>G	c.(778-780)CTC>CTG	p.L260L	WDR4_uc002zck.1_Silent_p.L260L|WDR4_uc002zcl.1_Silent_p.L114L|WDR4_uc010gpg.1_Silent_p.L259L|WDR4_uc011aew.1_Silent_p.L114L|WDR4_uc010gph.1_Silent_p.L114L	NM_033661	NP_387510	P57081	WDR4_HUMAN	WD repeat domain 4 protein	260					tRNA modification	cytoplasm|nucleoplasm	protein binding			ovary(1)	1				Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)		CGTCGCACAGGAGCGCCACGC	0.612		NaN											0	0	0	0.009096	0	3	25				
MCM3AP	8888	broad.mit.edu	37	21	47678906	47678906	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr21:47678906C>G	uc002zir.1	-	16	3717	c.3681G>C	c.(3679-3681)CAG>CAC	p.Q1227H	MCM3AP_uc002zip.1_5'UTR|MCM3AP_uc002ziq.1_Missense_Mutation_p.Q154H	NM_003906	NP_003897	O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3	1227					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			large_intestine(2)|lung(1)|ovary(1)|skin(1)	5	Breast(49;0.112)					CCTTTGCAGTCTGGAAGATTT	0.537		NaN											0	0	0	0.001168	0	5	81				
RIMBP3	85376	broad.mit.edu	37	22	20458068	20458068	+	Silent	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr22:20458068G>A	uc002zsd.3	-	1	3719	c.3234C>T	c.(3232-3234)TTC>TTT	p.F1078F		NM_015672	NP_056487			RIMS binding protein 3												0	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			AGAGTGTGTCGAAGGTGACGG	0.662		NaN											0	0	0	0.009096	0	4	35				
THAP7	80764	broad.mit.edu	37	22	21354354	21354354	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr22:21354354C>G	uc002ztr.1	-	5	775	c.745G>C	c.(745-747)GAT>CAT	p.D249H	THAP7_uc002zts.1_Missense_Mutation_p.D249H|FLJ39582_uc002ztt.1_5'Flank|FLJ39582_uc002ztu.1_5'Flank|FLJ39582_uc002ztv.2_5'Flank	NM_001008695	NP_001008695	Q9BT49	THAP7_HUMAN	THAP domain containing 7 isoform 2	249					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck	C2H2 zinc finger domain binding|DNA binding|metal ion binding|protein N-terminus binding				0	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TCAAGGGCATCAAGGGCTGCC	0.682		NaN											0	0	0	0.006214	0	10	33				
LARGE	9215	broad.mit.edu	37	22	34046621	34046621	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr22:34046621G>A	uc003and.3	-	4	719	c.140C>T	c.(139-141)TCC>TTC	p.S47F	LARGE_uc003ane.3_Missense_Mutation_p.S47F|LARGE_uc010gwp.2_Missense_Mutation_p.S47F|LARGE_uc011ame.1_5'UTR|LARGE_uc011amf.1_Missense_Mutation_p.S47F	NM_004737	NP_004728	O95461	LARGE_HUMAN	like-glycosyltransferase	47	Lumenal (Potential).				glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Lung NSC(1;0.219)				GTGTGCCTGGGACTCCAGCGG	0.647		NaN											0	0	0	0.004672	0	3	34				
EFCAB6	64800	broad.mit.edu	37	22	44068181	44068181	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr22:44068181C>G	uc003bdy.1	-	14	1639	c.1424G>C	c.(1423-1425)AGA>ACA	p.R475T	EFCAB6_uc003bdz.1_Missense_Mutation_p.R323T|EFCAB6_uc010gzi.1_Missense_Mutation_p.R323T|EFCAB6_uc010gzk.1_RNA	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN	CAP-binding protein complex interacting protein	475					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7		Ovarian(80;0.0247)|all_neural(38;0.025)				AGATGTCTTTCTCATCTAATT	0.294		NaN											0	0	0	0.009096	0	4	34				
CADPS	8618	broad.mit.edu	37	3	62484936	62484936	+	Silent	SNP	T	T	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr3:62484936T>C	uc003dll.2	-	18	2967	c.2607A>G	c.(2605-2607)GTA>GTG	p.V869V	CADPS_uc003dlk.1_Silent_p.V373V|CADPS_uc003dlm.2_Silent_p.V886V|CADPS_uc003dln.2_Silent_p.V846V	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Ca2+-dependent secretion activator isoform 1	869	Interaction with DRD2.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			central_nervous_system(2)|ovary(1)	3		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TTAACCGGCCTACATTTTCTG	0.398		NaN											0	0	0	0.014758	0	4	28				
ROBO2	6092	broad.mit.edu	37	3	77645844	77645844	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr3:77645844T>A	uc003dpy.3	+	19	3440	c.2797T>A	c.(2797-2799)TTG>ATG	p.L933M	ROBO2_uc003dpz.2_Missense_Mutation_p.L937M|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.L937M|ROBO2_uc003dqa.2_Missense_Mutation_p.L60M	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	933	Cytoplasmic (Potential).				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AGCCACGAGCTTGCCAGTAAA	0.428		NaN											0	0	0	0.006214	0	8	87				
MYH15	22989	broad.mit.edu	37	3	108133162	108133162	+	Silent	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr3:108133162G>C	uc003dxa.1	-	31	4179	c.4122C>G	c.(4120-4122)TCC>TCG	p.S1374S		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	myosin, heavy polypeptide 15	1374	Potential.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(5)|central_nervous_system(2)	7						CATTGACTTTGGATAAGGTCC	0.498		NaN											0	0	0	0.006214	0	8	31				
TRH	7200	broad.mit.edu	37	3	129695896	129695896	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr3:129695896G>T	uc003enc.2	+	3	1127	c.566G>T	c.(565-567)GGC>GTC	p.G189V		NM_007117	NP_009048	P20396	TRH_HUMAN	thyrotropin-releasing hormone	189					cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity			ovary(1)	1						CAGCATCCGGGCAAGAGGGCC	0.527		NaN											1	0	1.58986e-06	0.008291	1.74497e-06	10	41				
C3orf58	205428	broad.mit.edu	37	3	143691456	143691456	+	Silent	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr3:143691456G>C	uc003evo.2	+	1	817	c.282G>C	c.(280-282)GCG>GCC	p.A94A	C3orf58_uc011bnl.1_5'Flank	NM_173552	NP_775823	Q8NDZ4	CC058_HUMAN	hypothetical protein LOC205428 isoform a	94						COPI vesicle coat|extracellular region				ovary(1)	1						TGTACTTCGCGCAGTACGGCG	0.692		NaN											0	0	0	0.001168	0	6	52				
PIGG	54872	broad.mit.edu	37	4	524484	524484	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr4:524484G>C	uc003gak.3	+	11	2657	c.2521G>C	c.(2521-2523)GAG>CAG	p.E841Q	PIGG_uc003gaj.3_Missense_Mutation_p.E833Q|PIGG_uc011bux.1_RNA|PIGG_uc010ibf.2_Missense_Mutation_p.E708Q|PIGG_uc003gal.3_Missense_Mutation_p.E752Q	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	841					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			central_nervous_system(2)|ovary(1)|skin(1)	4						CGATGCAGCTGAGATTACTGT	0.378		NaN											0	0	0	0.001984	0	7	172				
KIAA0232	9778	broad.mit.edu	37	4	6843914	6843914	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr4:6843914C>T	uc003gjr.3	+	4	815	c.352C>T	c.(352-354)CGA>TGA	p.R118*	KIAA0232_uc003gjq.3_Nonsense_Mutation_p.R118*	NM_014743	NP_055558	Q92628	K0232_HUMAN	hypothetical protein LOC9778	118							ATP binding			ovary(2)	2						CCAGTGTCTTCGATCTGCTTC	0.348		NaN											0	0	0	0.009096	0	4	67				
CPZ	8532	broad.mit.edu	37	4	8616129	8616129	+	Silent	SNP	C	C	T	rs139712717	byFrequency	TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr4:8616129C>T	uc003glm.2	+	9	1533	c.1407C>T	c.(1405-1407)ATC>ATT	p.I469I	CPZ_uc003gll.2_RNA|CPZ_uc003gln.2_Silent_p.I332I|CPZ_uc003glo.2_Silent_p.I458I|CPZ_uc003glp.2_RNA	NM_001014447	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z isoform 1	469					proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			ovary(2)|pancreas(1)	3						GCTTTGAGATCACGGTAGAGC	0.582		NaN											0	0	0	0.014758	0	5	62				
LRRC66	339977	broad.mit.edu	37	4	52861074	52861074	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr4:52861074G>A	uc003gzi.2	-	4	2127	c.2114C>T	c.(2113-2115)TCT>TTT	p.S705F		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	705						integral to membrane				ovary(1)|central_nervous_system(1)|skin(1)	3						CCCCTCATCAGAGTCACAGTC	0.527		NaN											0	0	0	0.014758	0	4	76				
PDGFRA	5156	broad.mit.edu	37	4	54280809	54280809	+	Silent	SNP	A	A	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr4:54280809A>C	uc003haa.2	+	11	1029	c.843A>C	c.(841-843)ACA>ACC	p.T281T	FIP1L1_uc003gzx.3_Silent_p.T266T|FIP1L1_uc011bzt.1_Intron|FIP1L1_uc003gzy.2_Silent_p.T281T|FIP1L1_uc011bzu.1_Silent_p.T266T|FIP1L1_uc003gzz.2_Intron|FIP1L1_uc003hab.2_Silent_p.T246T|FIP1L1_uc003hac.2_Intron|FIP1L1_uc010ign.2_Intron	NM_006206	NP_006197	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor alpha	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	AGTCTCAGACAAGTACTGCCT	0.403		NaN	Mis|O|T	FIP1L1	GIST|idiopathic hypereosinophilic syndrome				Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	TSP Lung(21;0.16)			0	0	0	0.00308	0	6	24				
KDR	3791	broad.mit.edu	37	4	55948801	55948801	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr4:55948801G>A	uc003has.2	-	28	3966	c.3664C>T	c.(3664-3666)CAG>TAG	p.Q1222*	KDR_uc003hat.1_Nonsense_Mutation_p.Q1222*	NM_002253	NP_002244	P35968	VGFR2_HUMAN	kinase insert domain receptor precursor	1222	Cytoplasmic (Potential).				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TGCAGATACTGACTGCAAAAG	0.373		NaN	Mis		NSCLC|angiosarcoma				Familial_Infantile_Hemangioma	TSP Lung(20;0.16)			0	0	0	0.00308	0	7	54				
SLC4A4	8671	broad.mit.edu	37	4	72215710	72215710	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr4:72215710T>G	uc003hfy.2	+	5	588	c.471T>G	c.(469-471)AGT>AGG	p.S157R	SLC4A4_uc010iic.2_Missense_Mutation_p.S157R|SLC4A4_uc010iib.2_Missense_Mutation_p.S157R|SLC4A4_uc003hfz.2_Missense_Mutation_p.S157R|SLC4A4_uc003hgc.3_Missense_Mutation_p.S113R|SLC4A4_uc003hga.2_Missense_Mutation_p.S35R|SLC4A4_uc003hgb.3_Missense_Mutation_p.S113R	NM_001098484	NP_001091954	Q9Y6R1	S4A4_HUMAN	solute carrier family 4, sodium bicarbonate	157	Cytoplasmic (Potential).					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			ovary(3)|kidney(1)|skin(1)	5			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			CCCTTCATAGTTTATTTGAGC	0.453		NaN											0	0	0	0.001168	0	6	82				
ANXA5	308	broad.mit.edu	37	4	122591161	122591161	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr4:122591161G>C	uc003idu.3	-	10	798	c.728C>G	c.(727-729)TCT>TGT	p.S243C	ANXA5_uc003idv.3_Missense_Mutation_p.S243C|ANXA5_uc003idw.3_RNA|ANXA5_uc010inm.2_Missense_Mutation_p.S243C|ANXA5_uc010inn.2_Missense_Mutation_p.S183C|ANXA5_uc010ino.2_Missense_Mutation_p.S143C	NM_001154	NP_001145	P08758	ANXA5_HUMAN	annexin 5	243					anti-apoptosis|blood coagulation|negative regulation of coagulation|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity			ovary(1)	1						ACTTCGAATAGATTTCACTAA	0.333		NaN											0	0	0	0.006214	0	8	51				
ADAMTS16	170690	broad.mit.edu	37	5	5186206	5186206	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr5:5186206G>A	uc003jdl.2	+	5	943	c.805G>A	c.(805-807)GAT>AAT	p.D269N	ADAMTS16_uc003jdk.1_Missense_Mutation_p.D269N|ADAMTS16_uc003jdj.1_Missense_Mutation_p.D269N	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	269					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						CATCTTGCCAGATGAGTATAA	0.498		NaN											0	0	0	0.01441	0	61	166				
MTRR	4552	broad.mit.edu	37	5	7895909	7895909	+	Silent	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr5:7895909C>T	uc003jed.2	+	12	1731	c.1701C>T	c.(1699-1701)ATC>ATT	p.I567I	MTRR_uc003jee.3_Silent_p.I540I|MTRR_uc003jef.3_RNA|MTRR_uc003jeg.3_RNA|MTRR_uc010ito.2_RNA	NM_024010	NP_076915	Q9UBK8	MTRR_HUMAN	methionine synthase reductase isoform 2	567					methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding			ovary(1)	1					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	CAATCCCCATCATAATGGTGG	0.398		NaN											0	0	0	0.01441	0	52	110				
MTMR12	54545	broad.mit.edu	37	5	32229905	32229905	+	Silent	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr5:32229905G>A	uc003jhq.2	-	16	2393	c.2223C>T	c.(2221-2223)TTC>TTT	p.F741F	MTMR12_uc010iuk.2_Silent_p.F687F|MTMR12_uc010iul.2_Silent_p.F631F	NM_001040446	NP_001035536	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	741						cytoplasm	phosphatase activity			ovary(1)	1						CTAGGTCCACGAACTCATCTT	0.512		NaN											0	0	0	0.007413	0	18	51				
MTMR12	54545	broad.mit.edu	37	5	32230145	32230145	+	Silent	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr5:32230145C>T	uc003jhq.2	-	16	2153	c.1983G>A	c.(1981-1983)CTG>CTA	p.L661L	MTMR12_uc010iuk.2_Silent_p.L607L|MTMR12_uc010iul.2_Silent_p.L551L	NM_001040446	NP_001035536	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	661						cytoplasm	phosphatase activity			ovary(1)	1						AGAGTTTGCTCAGAGTGGCCA	0.572		NaN											0	0	0	0.008291	0	9	184				
FBXO4	26272	broad.mit.edu	37	5	41929974	41929974	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr5:41929974G>A	uc003jmq.2	+	3	657	c.601G>A	c.(601-603)GAG>AAG	p.E201K	FBXO4_uc003jmp.2_Missense_Mutation_p.E201K|FBXO4_uc003jmr.2_Missense_Mutation_p.E201K	NM_012176	NP_036308	Q9UKT5	FBX4_HUMAN	F-box only protein 4 isoform 1	201					positive regulation of protein ubiquitination|protein polyubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|telomere maintenance|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	protein binding|protein homodimerization activity|ubiquitin-protein ligase activity			liver(1)	1		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)				GATGTCTTCAGAGGAACTTTG	0.398		NaN											0	0	0	0.01441	0	56	170				
CCNH	902	broad.mit.edu	37	5	86700789	86700789	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr5:86700789C>G	uc003kjb.2	-	5	793	c.561G>C	c.(559-561)TTG>TTC	p.L187F	CCNH_uc003kiy.1_Intron|CCNH_uc003kiz.1_Missense_Mutation_p.L134F|CCNH_uc003kja.2_Missense_Mutation_p.L134F	NM_001239	NP_001230	P51946	CCNH_HUMAN	cyclin H	187					G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	cyclin-dependent protein kinase activating kinase holoenzyme complex|holo TFIIH complex	protein kinase binding			ovary(2)|kidney(1)	3		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;9.01e-39)|Epithelial(54;5.08e-33)|all cancers(79;4.28e-28)		CTGTTTTCCTCAAAATCTCTG	0.373		NaN						Direct_reversal_of_damage|NER					0	0	0	0.00308	0	5	63				
GPR98	84059	broad.mit.edu	37	5	90106693	90106693	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr5:90106693G>A	uc003kju.2	+	74	15712	c.15616G>A	c.(15616-15618)GAT>AAT	p.D5206N	GPR98_uc003kjt.2_Missense_Mutation_p.D2912N|GPR98_uc003kjw.2_Missense_Mutation_p.D867N	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	5206	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGAAAAGCCTGATGTGGCCAC	0.463		NaN											0	0	0	0.001168	0	5	50				
FER	2241	broad.mit.edu	37	5	108516587	108516587	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr5:108516587G>A	uc003kop.1	+	18	2572	c.2188G>A	c.(2188-2190)GAA>AAA	p.E730K	FER_uc011cvg.1_Missense_Mutation_p.E555K	NM_005246	NP_005237	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	730	Protein kinase.			E -> G (in Ref. 2; BAG61714).	intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			lung(2)|stomach(1)|ovary(1)|kidney(1)	5		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		GACAGCACCGGAAGCTCTTAA	0.373		NaN											0	0	0	0.008291	0	10	52				
WDR36	134430	broad.mit.edu	37	5	110462533	110462533	+	Silent	SNP	C	C	T	rs79307023		TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr5:110462533C>T	uc003kpd.2	+	23	2925	c.2808C>T	c.(2806-2808)TTC>TTT	p.F936F	WDR36_uc010jbu.2_RNA	NM_139281	NP_644810	Q8NI36	WDR36_HUMAN	WD repeat domain 36	936					response to stimulus|rRNA processing|visual perception	small-subunit processome				ovary(1)|skin(1)	2		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		AATCACTCTTCAATCAAAGCA	0.323		NaN											0	0	0	0.014758	0	5	35				
RAD50	10111	broad.mit.edu	37	5	131931309	131931309	+	Nonsense_Mutation	SNP	C	C	T	rs142947311		TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr5:131931309C>T	uc003kxi.2	+	13	2401	c.2014C>T	c.(2014-2016)CAG>TAG	p.Q672*	RAD50_uc003kxh.2_Nonsense_Mutation_p.Q533*	NM_005732	NP_005723	Q92878	RAD50_HUMAN	RAD50 homolog isoform 1	672	Zinc-hook.|Potential.				DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			lung(2)|ovary(1)|skin(1)	4		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTTCATTACTCAGCTAACAGA	0.383		NaN						Homologous_recombination					0	0	0	0.014758	0	5	46				
SEC24A	10802	broad.mit.edu	37	5	134007548	134007548	+	Silent	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr5:134007548C>T	uc003kzs.2	+	4	1077	c.789C>T	c.(787-789)TAC>TAT	p.Y263Y	SEC24A_uc011cxu.1_Missense_Mutation_p.T31M	NM_021982	NP_068817	O95486	SC24A_HUMAN	SEC24 related gene family, member A	263					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)			ACAGTAGTTACGACGAGATTG	0.313		NaN											0	0	0	0.008291	0	7	46				
PCDHA2	56146	broad.mit.edu	37	5	140175779	140175779	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr5:140175779C>A	uc003lhd.2	+	1	1336	c.1230C>A	c.(1228-1230)GAC>GAA	p.D410E	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.D410E|PCDHA2_uc011czy.1_Missense_Mutation_p.D410E	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2 isoform 1 precursor	410	Cadherin 4.|Extracellular (Potential).				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)			TGGTGCTGGACAGCGCCCTGG	0.622		NaN											1	0	5.03518e-11	0.007413	5.68828e-11	18	147				
PCDHB5	26167	broad.mit.edu	37	5	140515575	140515575	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr5:140515575G>C	uc003liq.2	+	1	776	c.559G>C	c.(559-561)GAT>CAT	p.D187H		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	187	Cadherin 2.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TAATCGCGGAGATGGCAGAAA	0.517		NaN											0	0	0	0.00308	0	8	59				
HDAC3	8841	broad.mit.edu	37	5	141008783	141008783	+	Silent	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr5:141008783C>T	uc003llf.2	-	7	633	c.567G>A	c.(565-567)ACG>ACA	p.T189T	HDAC3_uc003lle.1_Silent_p.T132T|HDAC3_uc010jgd.1_Silent_p.T114T|HDAC3_uc010jge.1_RNA	NM_003883	NP_003874	O15379	HDAC3_HUMAN	histone deacetylase 3	189	Histone deacetylase.				anti-apoptosis|cellular lipid metabolic process|negative regulation of cell cycle|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|spindle assembly|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|spindle microtubule|transcriptional repressor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription corepressor activity|transcription factor binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Vorinostat(DB02546)	GGAAGGACACCGTCATGACCC	0.443		NaN											0	0	0	0.009096	0	4	43				
GRIA1	2890	broad.mit.edu	37	5	153144153	153144153	+	Nonsense_Mutation	SNP	C	C	A	rs149931571	byFrequency	TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr5:153144153C>A	uc003lva.3	+	12	2348	c.1983C>A	c.(1981-1983)TAC>TAA	p.Y661*	GRIA1_uc003luy.3_Nonsense_Mutation_p.Y661*|GRIA1_uc003luz.3_Nonsense_Mutation_p.Y566*|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Nonsense_Mutation_p.Y581*|GRIA1_uc011dcx.1_Nonsense_Mutation_p.Y592*|GRIA1_uc011dcy.1_Nonsense_Mutation_p.Y671*|GRIA1_uc011dcz.1_Nonsense_Mutation_p.Y671*	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1 isoform	661	Extracellular (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			ovary(4)|skin(2)	6		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AAATTGCCTACGGGACGCTGG	0.502		NaN											1	0	0.004672	0.004672	0.00487042	3	34				
HIVEP1	3096	broad.mit.edu	37	6	12163852	12163852	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr6:12163852G>A	uc003nac.2	+	9	7494	c.7315G>A	c.(7315-7317)GGT>AGT	p.G2439S	HIVEP1_uc011diq.1_RNA	NM_002114	NP_002105	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer	2439					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CAGAACTTTGGGTACTCATAG	0.517		NaN											0	0	0	0.005443	0	27	72				
HIVEP1	3096	broad.mit.edu	37	6	12164328	12164328	+	Silent	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr6:12164328C>T	uc003nac.2	+	9	7970	c.7791C>T	c.(7789-7791)ACC>ACT	p.T2597T	HIVEP1_uc011diq.1_RNA	NM_002114	NP_002105	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer	2597					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				TCAGCAGGACCGAGTCTCCTC	0.542		NaN											0	0	0	0.004672	0	3	41				
ZKSCAN4	387032	broad.mit.edu	37	6	28219395	28219395	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr6:28219395C>T	uc003nks.1	-	1	608	c.364G>A	c.(364-366)GAG>AAG	p.E122K	ZKSCAN4_uc011dlb.1_Intron	NM_019110	NP_061983	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	122	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1						ACCACCTCCTCCCCGCTCTCT	0.592		NaN											0	0	0	0.014758	0	4	37				
HLA-A	3105	broad.mit.edu	37	6	29910693	29910693	+	Missense_Mutation	SNP	A	A	G	rs41559716		TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr6:29910693A>G	uc003nol.2	+	2	233	c.233A>G	c.(232-234)CAG>CGG	p.Q78R	HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_Intron|HLA-A_uc010jrq.2_5'UTR|HLA-A_uc003nok.2_5'UTR|HLA-A_uc003non.2_Missense_Mutation_p.Q78R|HLA-A_uc003noo.2_Missense_Mutation_p.Q78R|HLA-A_uc010jrr.2_Missense_Mutation_p.Q78R|HLA-A_uc003nom.2_5'UTR|HLA-A_uc010klp.2_Missense_Mutation_p.Q50R|HLA-A_uc011dmc.1_5'UTR|HLA-A_uc011dmd.1_5'Flank	NM_002116	NP_002107	P30443	1A01_HUMAN	major histocompatibility complex, class I, A	78	Extracellular (Potential).|Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			upper_aerodigestive_tract(1)|ovary(1)	2						TGGATAGAGCAGGAGGGGCCG	0.657		NaN							Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of|Osteosarcoma_Familial_Clustering_of|Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of	Multiple Myeloma(9;0.094)			0	0	0	0.009096	0	3	25				
MDC1	9656	broad.mit.edu	37	6	30673284	30673284	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr6:30673284G>C	uc003nrg.3	-	10	4116	c.3676C>G	c.(3676-3678)CAG>GAG	p.Q1226E	MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Missense_Mutation_p.Q833E	NM_014641	NP_055456	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1226	Pro-rich.|Interaction with the PRKDC complex.			Missing (in Ref. 2; CAH18685).	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|ovary(1)|kidney(1)	4						CTAGTAGCCTGAGAGGTGGGT	0.572		NaN						Other_conserved_DNA_damage_response_genes					0	0	0	0.01441	0	51	205				
CCHCR1	54535	broad.mit.edu	37	6	31122287	31122287	+	Silent	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr6:31122287G>A	uc003nsr.3	-	4	643	c.520C>T	c.(520-522)CTG>TTG	p.L174L	CCHCR1_uc011dne.1_Silent_p.L174L|CCHCR1_uc003nsq.3_Silent_p.L227L|CCHCR1_uc003nsp.3_Silent_p.L263L|CCHCR1_uc010jsk.1_Silent_p.L174L	NM_019052	NP_061925	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1 isoform	174	Potential.				cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			skin(1)	1						TCTTGGTGCAGCCTCTGAACC	0.547		NaN											0	0	0	0.014323	0	22	474				
MICA	4276	broad.mit.edu	37	6	31378387	31378387	+	Silent	SNP	T	T	C	rs78945208		TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr6:31378387T>C	uc003ntk.1	+	2	177	c.138T>C	c.(136-138)CTT>CTC	p.L46L	MICA_uc003rxz.1_5'UTR					RecName: Full=MHC class I polypeptide-related sequence A;          Short=MIC-A; Flags: Precursor;												0		Ovarian(999;0.0253)				CAGGGTTTCTTGCTGAGGTAC	0.532		NaN											0	0	0	0.004672	0	3	51				
APOBEC2	10930	broad.mit.edu	37	6	41029212	41029212	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr6:41029212G>A	uc003opl.2	+	2	424	c.277G>A	c.(277-279)GAG>AAG	p.E93K	UNC5CL_uc010jxe.1_Intron|APOBEC2_uc010jxf.2_Intron	NM_006789	NP_006780	Q9Y235	ABEC2_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic	93					DNA demethylation|mRNA processing		cytidine deaminase activity|RNA binding|zinc ion binding				0	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCTAGAGGATGAGCATGCGGC	0.577		NaN											0	0	0	0.007413	0	20	82				
SUPT3H	8464	broad.mit.edu	37	6	44797554	44797554	+	Nonstop_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr6:44797554C>G	uc003oxo.2	-	13	1304	c.986G>C	c.(985-987)TGA>TCA	p.*329S	SUPT3H_uc003oxn.1_Nonstop_Mutation_p.*318S|SUPT3H_uc011dvv.1_Nonstop_Mutation_p.*166S|SUPT3H_uc003oxp.2_Nonstop_Mutation_p.*318S|SUPT3H_uc011dvw.1_Nonstop_Mutation_p.*232S	NM_181356	NP_852001	O75486	SUPT3_HUMAN	suppressor of Ty 3 homolog isoform 2	329					histone deubiquitination|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|transcription factor TFTC complex	DNA binding|transcription coactivator activity			ovary(2)|breast(1)	3						GTTGTCACATCAGCAGGCTAG	0.368		NaN											0	0	0	0.006122	0	17	120				
ASCC3	10973	broad.mit.edu	37	6	101110370	101110370	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr6:101110370C>G	uc003pqk.2	-	15	2658	c.2329G>C	c.(2329-2331)GAT>CAT	p.D777H	ASCC3_uc011eai.1_Missense_Mutation_p.D679H	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit	777	Helicase C-terminal 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(5)|skin(1)	6		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		CTAAAACCATCTGGGAATAAT	0.358		NaN											0	0	0	0.009096	0	4	35				
LAMA2	3908	broad.mit.edu	37	6	129674484	129674484	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr6:129674484G>C	uc003qbn.2	+	32	4804	c.4699G>C	c.(4699-4701)GAG>CAG	p.E1567Q	LAMA2_uc003qbo.2_Missense_Mutation_p.E1567Q	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	1567	Laminin EGF-like 17.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GCATGCACGCGAGGGCTGGGA	0.537		NaN											0	0	0	0.009096	0	4	64				
SNX9	51429	broad.mit.edu	37	6	158296183	158296183	+	Missense_Mutation	SNP	C	C	T	rs140767756		TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr6:158296183C>T	uc003qqv.1	+	4	448	c.275C>T	c.(274-276)TCG>TTG	p.S92L		NM_016224	NP_057308	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	92					cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding				0		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		CAGGCCAGTTCGTCGGCTGCC	0.488		NaN											0	0	0	0.001984	0	6	56				
MAP3K4	4216	broad.mit.edu	37	6	161455436	161455436	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr6:161455436C>T	uc003qtn.2	+	2	440	c.298C>T	c.(298-300)CAG>TAG	p.Q100*	MAP3K4_uc010kkc.1_Nonsense_Mutation_p.Q100*|MAP3K4_uc003qto.2_Nonsense_Mutation_p.Q100*|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_5'UTR	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	100					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			ovary(3)|lung(3)|skin(2)|stomach(1)	9		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		AACCAAACATCAGAGGAATAA	0.448		NaN											0	0	0	0.014758	0	5	44				
DLL1	28514	broad.mit.edu	37	6	170592161	170592161	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr6:170592161G>A	uc003qxm.2	-	10	2551	c.2081C>T	c.(2080-2082)TCG>TTG	p.S694L		NM_005618	NP_005609	O00548	DLL1_HUMAN	delta-like 1 precursor	694	Cytoplasmic (Potential).				cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding			lung(4)|ovary(1)	5		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		TGAACAGCCCGAGTCCGGCCT	0.468		NaN											0	0	0	0.012319	0	19	123				
C7orf28A	51622	broad.mit.edu	37	7	5944726	5944726	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr7:5944726A>G	uc003spf.2	+	7	614	c.524A>G	c.(523-525)TAT>TGT	p.Y175C		NM_015622	NP_056437	P86791	CCZ1_HUMAN	hypothetical protein LOC51622	175						lysosomal membrane					0		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0974)|OV - Ovarian serous cystadenocarcinoma(56;7.91e-15)		TTCCCACAGTATTTGCAAACG	0.333		NaN											0	0	0	0.008291	0	11	92				
EEPD1	80820	broad.mit.edu	37	7	36194706	36194706	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr7:36194706G>T	uc003tfa.2	+	2	1413	c.773G>T	c.(772-774)AGG>ATG	p.R258M		NM_030636	NP_085139	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family	258					DNA repair		DNA binding				0						AGGGATGGGAGGCCTGTGCTG	0.647		NaN											1	0	0.00621372	0.006214	0.00645271	8	23				
PKD1L1	168507	broad.mit.edu	37	7	47924229	47924229	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr7:47924229G>C	uc003tny.1	-	19	3232	c.3232C>G	c.(3232-3234)CAA>GAA	p.Q1078E		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	1078	Extracellular (Potential).|REJ.				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						ATTGCTTCTTGAATGTCACTG	0.448		NaN											0	0	0	0.00308	0	7	34				
BAZ1B	9031	broad.mit.edu	37	7	72856883	72856883	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr7:72856883C>G	uc003tyc.2	-	19	4440	c.4095G>C	c.(4093-4095)AGG>AGC	p.R1365S		NM_032408	NP_115784	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	1365	Bromo.				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			ovary(4)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	7		Lung NSC(55;0.0659)|all_lung(88;0.152)				TCACAGGCTCCCTGTGGAGAA	0.552		NaN											0	0	0	0.00308	0	8	63				
CYP3A5	1577	broad.mit.edu	37	7	99264653	99264653	+	Silent	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr7:99264653G>A	uc003urq.2	-	5	441	c.354C>T	c.(352-354)ATC>ATT	p.I118I	ZNF498_uc003urn.2_Intron|CYP3A5_uc003urp.2_5'UTR|CYP3A5_uc003urr.2_Silent_p.I5I|CYP3A5_uc011kiy.1_Silent_p.I108I|CYP3A5_uc003urs.2_Intron|CYP3A5_uc010lgg.2_Intron	NM_000777	NP_000768	P20815	CP3A5_HUMAN	cytochrome P450, family 3, subfamily A,	118					alkaloid catabolic process|drug catabolic process|oxidative demethylation|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding				0	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)				Alfentanil(DB00802)|Clopidogrel(DB00758)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Indinavir(DB00224)|Irinotecan(DB00762)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Mephenytoin(DB00532)|Midazolam(DB00683)|Mifepristone(DB00834)|Phenytoin(DB00252)|Quinine(DB00468)|Saquinavir(DB01232)|Tacrolimus(DB00864)|Troleandomycin(DB01361)|Verapamil(DB00661)|Vincristine(DB00541)	CAGCTAAAGAGATGGCACTTT	0.398		NaN											0	0	0	0.001984	0	6	45				
MUC17	140453	broad.mit.edu	37	7	100682288	100682288	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr7:100682288G>C	uc003uxp.1	+	3	7644	c.7591G>C	c.(7591-7593)GAG>CAG	p.E2531Q	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	2531	Extracellular (Potential).|40.|59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					GGCCAGTCCTGAGGCTAGCAC	0.478		NaN											0	0	0	0.01441	0	47	341				
POT1	25913	broad.mit.edu	37	7	124503417	124503417	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr7:124503417G>A	uc003vlm.2	-	8	1134	c.533C>T	c.(532-534)TCA>TTA	p.S178L	POT1_uc011koe.1_RNA|POT1_uc003vlk.2_RNA|POT1_uc003vll.2_RNA|POT1_uc003vlo.2_Missense_Mutation_p.S47L|POT1_uc003vln.2_RNA	NM_015450	NP_056265	Q9NUX5	POTE1_HUMAN	protection of telomeres 1 isoform 1	178					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			central_nervous_system(1)	1						TAGAAGAAATGATGCTCCGTC	0.378		NaN											0	0	0	0.001984	0	6	63				
LRRC4	64101	broad.mit.edu	37	7	127669984	127669984	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr7:127669984G>C	uc003vmk.2	-	2	847	c.710C>G	c.(709-711)TCC>TGC	p.S237C	SND1_uc003vmi.2_Intron|SND1_uc010lle.2_Intron	NM_022143	NP_071426	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4 precursor	237	LRR 7.|Extracellular (Potential).					cell junction|integral to membrane|postsynaptic membrane				large_intestine(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4				Lung(243;0.124)		GCCATGGAAGGAGCCAGGCCT	0.562		NaN											0	0	0	0.004482	0	9	42				
TNPO3	23534	broad.mit.edu	37	7	128641272	128641272	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr7:128641272G>A	uc003vol.1	-	6	1087	c.713C>T	c.(712-714)TCG>TTG	p.S238L	TNPO3_uc003vom.1_Missense_Mutation_p.S172L|TNPO3_uc010lly.1_Missense_Mutation_p.S238L|TNPO3_uc010llz.1_Missense_Mutation_p.S238L	NM_012470	NP_036602	Q9Y5L0	TNPO3_HUMAN	transportin 3	238					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			ovary(2)|skin(2)|lung(1)	5						TAGGTTAGACGAGGTCTTATC	0.478		NaN											0	0	0	0.016723	0	12	106				
SVOPL	136306	broad.mit.edu	37	7	138312990	138312990	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr7:138312990C>T	uc011kqh.1	-	10	982	c.982G>A	c.(982-984)GGG>AGG	p.G328R	SVOPL_uc003vue.2_Missense_Mutation_p.G176R	NM_001139456	NP_001132928	Q8N434	SVOPL_HUMAN	SVOP-like isoform 1	328						integral to membrane	transmembrane transporter activity				0						TGGCTCTCCCCTGAGTCCCCC	0.567		NaN											0	0	0	0.001168	0	6	49				
EPHB6	2051	broad.mit.edu	37	7	142567711	142567711	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr7:142567711G>A	uc011kst.1	+	17	3386	c.2599G>A	c.(2599-2601)GAG>AAG	p.E867K	EPHB6_uc011ksu.1_Missense_Mutation_p.E867K|EPHB6_uc003wbs.2_Missense_Mutation_p.E575K|EPHB6_uc003wbt.2_Missense_Mutation_p.E341K|EPHB6_uc003wbu.2_Missense_Mutation_p.E575K|EPHB6_uc003wbv.2_Missense_Mutation_p.E251K	NM_004445	NP_004436	O15197	EPHB6_HUMAN	ephrin receptor EphB6 precursor	867	Cytoplasmic (Potential).|Protein kinase.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1)	19	Melanoma(164;0.059)					GGACATGAGTGAGCAGGAGGT	0.498		NaN											0	0	0	0.001168	0	6	33				
ABP1	26	broad.mit.edu	37	7	150558223	150558223	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr7:150558223C>G	uc003why.1	+	6	6400	c.2182C>G	c.(2182-2184)CGC>GGC	p.R728G	ABP1_uc003whz.1_Missense_Mutation_p.R728G|ABP1_uc003wia.1_Missense_Mutation_p.R747G	NM_001091	NP_001082	P19801	ABP1_HUMAN	amiloride binding protein 1 precursor	728					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			ovary(2)|breast(2)|skin(2)	6	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	CTACGTCCAGCGCTGGATCCC	0.532		NaN											0	0	0	0.014758	0	5	32				
ASB10	136371	broad.mit.edu	37	7	150878047	150878047	+	Silent	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr7:150878047G>A	uc003wjm.1	-	3	1344	c.1218C>T	c.(1216-1218)GTC>GTT	p.V406V	ASB10_uc003wjl.1_Silent_p.V406V|ASB10_uc003wjn.1_Silent_p.V346V	NM_001142459	NP_001135931	Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box-containing 10	361	ANK 7.				intracellular signal transduction						0			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCCCTGGCCAGACACGGACGG	0.692		NaN											0	0	0	0.009096	0	4	12				
TEX15	56154	broad.mit.edu	37	8	30694583	30694583	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr8:30694583G>C	uc003xil.2	-	3	8068	c.8068C>G	c.(8068-8070)CCT>GCT	p.P2690A		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	2690										ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AGCCCAGAAGGAGATGGCTGT	0.453		NaN											0	0	0	0.004482	0	8	74				
ZNF704	619279	broad.mit.edu	37	8	81577165	81577165	+	Missense_Mutation	SNP	G	G	C	rs145837256		TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr8:81577165G>C	uc003yby.1	-	6	1044	c.812C>G	c.(811-813)CCA>CGA	p.P271R		NM_001033723	NP_001028895	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	271						intracellular	zinc ion binding				0	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			GCTTGAATCTGGGATGGGGAA	0.577		NaN											0	0	0	0.014758	0	5	100				
MMP16	4325	broad.mit.edu	37	8	89130948	89130948	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr8:89130948C>A	uc003yeb.3	-	5	1134	c.852G>T	c.(850-852)CAG>CAT	p.Q284H	MMP16_uc003yec.2_Missense_Mutation_p.Q284H	NM_005941	NP_005932	P51512	MMP16_HUMAN	matrix metalloproteinase 16 isoform 1	284	Extracellular (Potential).				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1)	8						TCTGGATGCCCTGTAAATCAT	0.403		NaN											1	0	0.000673444	0.008291	0.000713058	10	56				
STK3	6788	broad.mit.edu	37	8	99761532	99761532	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr8:99761532G>C	uc003yip.2	-	4	464	c.323C>G	c.(322-324)TCA>TGA	p.S108*	STK3_uc003yio.2_Nonsense_Mutation_p.S136*|STK3_uc010mbm.1_Nonsense_Mutation_p.S108*	NM_006281	NP_006272	Q13188	STK3_HUMAN	serine/threonine kinase 3	108	Protein kinase.				apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity			lung(3)|ovary(1)	4	Breast(36;2.4e-06)	Breast(495;0.106)	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)		AATTATGTCTGAGACAGAGCC	0.323		NaN											0	0	0	0.016723	0	11	61				
FAM135B	51059	broad.mit.edu	37	8	139268995	139268995	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr8:139268995T>A	uc003yuy.2	-	5	476	c.305A>T	c.(304-306)GAC>GTC	p.D102V	FAM135B_uc003yux.2_Missense_Mutation_p.D3V|FAM135B_uc003yuz.2_RNA	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	102										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)			ACTCAGTGCGTCTTCCATCTG	0.403		NaN								HNSCC(54;0.14)			0	0	0	0.009096	0	4	17				
MPDZ	8777	broad.mit.edu	37	9	13147624	13147624	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr9:13147624C>T	uc010mia.1	-	25	3721	c.3664G>A	c.(3664-3666)GAA>AAA	p.E1222K	MPDZ_uc010mhx.2_Intron|MPDZ_uc011lmm.1_Missense_Mutation_p.E114K|MPDZ_uc003zkz.3_Intron|MPDZ_uc010mhy.2_Missense_Mutation_p.E1222K|MPDZ_uc010mhz.2_Missense_Mutation_p.E1222K|MPDZ_uc011lmn.1_Missense_Mutation_p.E1222K|MPDZ_uc003zlb.3_Missense_Mutation_p.E1222K	NM_003829	NP_003820	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1222	PDZ 7.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			ovary(5)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(50;2.03e-06)		ACAGCTTGTTCATGGCTTGCA	0.443		NaN											0	0	0	0.00308	0	8	62				
TOPORS	10210	broad.mit.edu	37	9	32544000	32544000	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr9:32544000C>T	uc003zrb.2	-	3	690	c.523G>A	c.(523-525)GAT>AAT	p.D175N	TOPORS_uc003zrc.2_Missense_Mutation_p.D108N	NM_005802	NP_005793	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich	175	E3 ubiquitin-protein ligase activity.|Required for DNA-binding.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		AATCGTCGATCAGGGGTGACA	0.448		NaN											0	0	0	0.008291	0	11	63				
FANCC	2176	broad.mit.edu	37	9	97897680	97897680	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr9:97897680C>T	uc004avh.2	-	8	1053	c.791G>A	c.(790-792)AGT>AAT	p.S264N	FANCC_uc004avi.3_Missense_Mutation_p.S264N	NM_000136	NP_000127	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	264					protein complex assembly	cytosol|nucleoplasm	protein binding			kidney(1)	1		Acute lymphoblastic leukemia(62;0.138)				ATTTCTCTCACTGGAGATTAG	0.433		NaN	D|Mis|N|F|S			AML|leukemia		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				0	0	0	0.006214	0	10	40				
KIAA1529	57653	broad.mit.edu	37	9	100082448	100082448	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr9:100082448G>C	uc011lut.1	+	23	2442	c.1669G>C	c.(1669-1671)GAG>CAG	p.E557Q	KIAA1529_uc004axe.1_Missense_Mutation_p.E557Q|KIAA1529_uc004axg.1_Missense_Mutation_p.E418Q|KIAA1529_uc011lus.1_Missense_Mutation_p.E375Q|KIAA1529_uc010msm.1_RNA|KIAA1529_uc004axf.2_Missense_Mutation_p.E418Q|KIAA1529_uc011luv.1_Missense_Mutation_p.E415Q	NM_020893	NP_065944			hypothetical protein LOC57653											ovary(4)|large_intestine(2)|skin(1)	7		Acute lymphoblastic leukemia(62;0.154)				TCAGCTGACTGAGTGGCATTC	0.498		NaN											0	0	0	0.01441	0	44	157				
SVEP1	79987	broad.mit.edu	37	9	113194246	113194246	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr9:113194246A>G	uc010mtz.2	-	32	5639	c.5302T>C	c.(5302-5304)TAC>CAC	p.Y1768H	SVEP1_uc010mty.2_5'Flank	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	1768	EGF-like 7; calcium-binding (Potential).				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						GAACATATGTAGGATCCATCT	0.378		NaN											0	0	0	0.009096	0	4	59				
SLC25A25	114789	broad.mit.edu	37	9	130868072	130868072	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr9:130868072G>A	uc004bte.2	+	6	739	c.710G>A	c.(709-711)GGA>GAA	p.G237E	SLC25A25_uc004btb.2_Missense_Mutation_p.G271E|SLC25A25_uc004btc.2_Missense_Mutation_p.G257E|SLC25A25_uc004btd.2_Missense_Mutation_p.G269E|SLC25A25_uc004btf.2_Missense_Mutation_p.G134E	NM_052901	NP_443133	Q6KCM7	SCMC2_HUMAN	solute carrier family 25, member 25 isoform a	237	Solcar 1.|Mitochondrial matrix (Potential).				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding				0						ATTCGAGAAGGAGGGGCCAGG	0.587		NaN											0	0	0	0.003163	0	15	75				
CARD9	64170	broad.mit.edu	37	9	139262242	139262242	+	Silent	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr9:139262242G>A	uc004chg.3	-	8	1282	c.1116C>T	c.(1114-1116)GCC>GCT	p.A372A	CARD9_uc011mdw.1_Silent_p.A372A|CARD9_uc011mdx.1_Silent_p.A268A	NM_052813	NP_434700	Q9H257	CARD9_HUMAN	caspase recruitment domain protein 9 isoform 1	372	Potential.				positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity			pancreas(1)|lung(1)|skin(1)	3		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		GCAGGCCCCGGGCGTGCTGTG	0.701		NaN											0	0	0	0.014758	0	5	21				
CXorf23	256643	broad.mit.edu	37	X	19973521	19973521	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chrX:19973521G>A	uc004czp.2	-	4	1438	c.1438C>T	c.(1438-1440)CAT>TAT	p.H480Y	CXorf23_uc010nfn.2_RNA|CXorf23_uc011mjg.1_Missense_Mutation_p.H45Y|CXorf23_uc004czo.2_Missense_Mutation_p.H430Y	NM_198279	NP_938020	A2AJT9	CX023_HUMAN	hypothetical protein LOC256643	480						mitochondrion				lung(1)|skin(1)	2						TTAACTTGATGGATTATTGTT	0.338		NaN											0	0	0	0.001984	0	6	50				
DCAF8L1	139425	broad.mit.edu	37	X	27998745	27998745	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chrX:27998745C>A	uc004dbx.1	-	1	822	c.707G>T	c.(706-708)AGT>ATT	p.S236I		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	236										ovary(3)|skin(1)	4						ATCGTGACCACTCTCAAAGTT	0.517		NaN											1	0	2.74318e-10	0.006214	3.07327e-10	9	45				
TAB3	257397	broad.mit.edu	37	X	30870918	30870918	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chrX:30870918T>A	uc004dcj.2	-	7	2350	c.1687A>T	c.(1687-1689)AGC>TGC	p.S563C	TAB3_uc004dck.2_Missense_Mutation_p.S563C|TAB3_uc010ngl.2_Missense_Mutation_p.S563C	NM_152787	NP_690000	Q8N5C8	TAB3_HUMAN	mitogen-activated protein kinase kinase kinase 7	563					activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB 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	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding			ovary(1)	1						GTGGTGCAGCTGACTCTTCTG	0.458		NaN											0	0	0	0.014758	0	4	59				
BCOR	54880	broad.mit.edu	37	X	39930940	39930940	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chrX:39930940C>T	uc004den.3	-	5	3293	c.3001G>A	c.(3001-3003)GAA>AAA	p.E1001K	BCOR_uc004dep.3_Missense_Mutation_p.E1001K|BCOR_uc004deo.3_Intron|BCOR_uc004dem.3_Missense_Mutation_p.E1001K	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	BCL-6 interacting corepressor isoform c	1001					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			ovary(2)|kidney(1)|central_nervous_system(1)	4						TGTAATCCTTCCATCTATGTA	0.303		NaN											0	0	0	0.004482	0	6	45				
HSD17B10	3028	broad.mit.edu	37	X	53459194	53459194	+	Splice_Site	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chrX:53459194C>T	uc004dsl.1	-	3	388	c.357_splice	c.e3+1	p.D119_splice	HSD17B10_uc004dsm.1_Splice_Site_p.D119_splice	NM_004493	NP_004484	Q99714	HCD2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 10						branched chain family amino acid catabolic process|lipid metabolic process|tRNA processing	mitochondrial matrix|plasma membrane	3-hydroxy-2-methylbutyryl-CoA dehydrogenase activity|3-hydroxyacyl-CoA dehydrogenase activity|cholate 7-alpha-dehydrogenase activity				0					NADH(DB00157)	CAAGGCCTTACATCAAGAACT	0.502		NaN											0	0	0	0.014758	0	4	17				
FAM120C	54954	broad.mit.edu	37	X	54185903	54185903	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chrX:54185903C>G	uc004dsz.3	-	2	929	c.846G>C	c.(844-846)TGG>TGC	p.W282C	FAM120C_uc011moh.1_Missense_Mutation_p.W282C	NM_017848	NP_060318	Q9NX05	F120C_HUMAN	hypothetical protein LOC54954	282										ovary(1)|central_nervous_system(1)	2						TCTTCCCATTCCAGCTCAGTT	0.488		NaN											0	0	0	0.009096	0	4	89				
DLG3	1741	broad.mit.edu	37	X	69670626	69670626	+	Silent	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chrX:69670626C>T	uc004dyi.1	+	6	1306	c.978C>T	c.(976-978)TAC>TAT	p.Y326Y	DLG3_uc004dyj.1_5'Flank	NM_021120	NP_066943	Q92796	DLG3_HUMAN	synapse-associated protein 102 isoform a	326					axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			large_intestine(1)|pancreas(1)	2	Renal(35;0.156)					CCCCTGACTACGCCAGCAGTA	0.532		NaN											0	0	0	0.014758	0	4	55				
TEX11	56159	broad.mit.edu	37	X	70080735	70080735	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chrX:70080735G>A	uc004dyl.2	-	6	503	c.341C>T	c.(340-342)TCA>TTA	p.S114L	TEX11_uc004dym.2_Missense_Mutation_p.S99L	NM_001003811	NP_001003811	Q8IYF3	TEX11_HUMAN	testis expressed sequence 11 isoform 1	114							protein binding			ovary(3)|breast(1)|skin(1)	5	Renal(35;0.156)					ACTTTGTTCTGAGGCAAATGA	0.343		NaN											0	0	0	0.004672	0	3	24				
MED12	9968	broad.mit.edu	37	X	70346320	70346320	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chrX:70346320G>A	uc004dyy.2	+	19	2870	c.2671G>A	c.(2671-2673)GAC>AAC	p.D891N	MED12_uc011mpq.1_Missense_Mutation_p.D891N|MED12_uc004dyz.2_Missense_Mutation_p.D891N|MED12_uc004dza.2_Missense_Mutation_p.D738N	NM_005120	NP_005111	Q93074	MED12_HUMAN	mediator complex subunit 12	891					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4	Renal(35;0.156)					TGGCCTCATCGACTTTGCCAT	0.537		NaN											0	0	0	0.003163	0	11	136				
ATRX	546	broad.mit.edu	37	X	76937566	76937566	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chrX:76937566G>C	uc004ecp.3	-	9	3414	c.3182C>G	c.(3181-3183)TCT>TGT	p.S1061C	ATRX_uc004ecq.3_Missense_Mutation_p.S1023C|ATRX_uc004eco.3_Missense_Mutation_p.S846C|ATRX_uc004ecr.2_Missense_Mutation_p.S993C|ATRX_uc010nlx.1_Missense_Mutation_p.S1032C|ATRX_uc010nly.1_Missense_Mutation_p.S1006C	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	1061					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)	AGCATAATCAGATAATTCATC	0.333		NaN	Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						0	0	0	0.008871	0	21	158				
MORC4	79710	broad.mit.edu	37	X	106221416	106221416	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chrX:106221416C>T	uc004emu.3	-	8	1193	c.950G>A	c.(949-951)AGA>AAA	p.R317K	MORC4_uc004emp.3_Intron|MORC4_uc004emv.3_Missense_Mutation_p.R317K|MORC4_uc004emw.3_Missense_Mutation_p.R65K	NM_024657	NP_078933	Q8TE76	MORC4_HUMAN	zinc finger, CW type with coiled-coil domain 2	317							ATP binding|zinc ion binding			ovary(1)	1						AAAGGTGATTCTCACCTGCTT	0.378		NaN											0	0	0	0.016723	0	14	83				
IRS4	8471	broad.mit.edu	37	X	107978480	107978480	+	Silent	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chrX:107978480C>G	uc004eoc.2	-	1	1128	c.1095G>C	c.(1093-1095)CCG>CCC	p.P365P		NM_003604	NP_003595	O14654	IRS4_HUMAN	insulin receptor substrate 4	365						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						CCGGCTCGAGCGGCACCAAGC	0.637		NaN											0	0	0	0.004007	0	16	156				
SAGE1	55511	broad.mit.edu	37	X	134993401	134993401	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chrX:134993401C>A	uc004ezh.2	+	17	2223	c.2056C>A	c.(2056-2058)CAG>AAG	p.Q686K	SAGE1_uc010nry.1_Missense_Mutation_p.Q655K|SAGE1_uc011mvv.1_Missense_Mutation_p.Q310K	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	686										ovary(2)|skin(1)	3	Acute lymphoblastic leukemia(192;0.000127)					AAATGGCCAACAGGCACCTGA	0.453		NaN											1	0	8.12818e-05	0.001984	8.70877e-05	6	78				
GPR50	9248	broad.mit.edu	37	X	150345317	150345317	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chrX:150345317G>C	uc010ntg.1	+	1	259	c.124G>C	c.(124-126)GAC>CAC	p.D42H	uc004fes.1_RNA|GPR50_uc011myc.1_Missense_Mutation_p.D42H	NM_004224	NP_004215	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	42	Helical; Name=1; (Potential).				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					CATCGTTGTAGACCTAATCGG	0.507		NaN											0	0	0	0.010729	0	12	140				
TMLHE	55217	broad.mit.edu	37	X	154743794	154743794	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chrX:154743794G>T	uc004fnn.2	-	4	657	c.491C>A	c.(490-492)TCG>TAG	p.S164*	TMLHE_uc004fno.2_Nonsense_Mutation_p.S164*|TMLHE_uc004fnp.3_Nonsense_Mutation_p.S164*	NM_018196	NP_060666	Q9NVH6	TMLH_HUMAN	trimethyllysine hydroxylase, epsilon	164					carnitine biosynthetic process	mitochondrial matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|trimethyllysine dioxygenase activity			ovary(1)	1	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Succinic acid(DB00139)|Vitamin C(DB00126)	GCAATCTACCGATGGAACTTG	0.433		NaN											1	0	0.00198382	0.001984	0.00208417	6	109				
SLAMF7	57823	broad.mit.edu	37	1	160721190	160721190	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr1:160721190delC	uc001fwq.2	+	5	840	c.825delC	c.(823-825)TGCfs	p.C275fs	SLAMF7_uc010pjn.1_Frame_Shift_Del_p.C181fs|SLAMF7_uc001fws.2_Frame_Shift_Del_p.C168fs|SLAMF7_uc001fwr.2_Intron|SLAMF7_uc010pjo.1_Frame_Shift_Del_p.C144fs|SLAMF7_uc010pjp.1_Frame_Shift_Del_p.C128fs|SLAMF7_uc010pjq.1_Intron|SLAMF7_uc010pjr.1_Intron	NM_021181	NP_067004	Q9NQ25	SLAF7_HUMAN	SLAM family member 7	275	Cytoplasmic (Potential).				cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity	integral to membrane	receptor activity			skin(2)|ovary(1)	3	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CTAACATATGCCCCCATTCTG	0.468		NaN											NaN	NaN	NaN	NaN	NaN	11	164	---		---	---
PCDH15	65217	broad.mit.edu	37	10	55973780	55973781	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr10:55973780_55973781insA	uc001jju.1	-	10	1408_1409	c.1013_1014insT	c.(1012-1014)TTCfs	p.F338fs	PCDH15_uc010qhq.1_Frame_Shift_Ins_p.F343fs|PCDH15_uc010qhr.1_Frame_Shift_Ins_p.F338fs|PCDH15_uc010qhs.1_Frame_Shift_Ins_p.F343fs|PCDH15_uc010qht.1_Frame_Shift_Ins_p.F338fs|PCDH15_uc010qhu.1_Frame_Shift_Ins_p.F338fs|PCDH15_uc001jjv.1_Frame_Shift_Ins_p.F316fs|PCDH15_uc010qhv.1_Frame_Shift_Ins_p.F338fs|PCDH15_uc010qhw.1_Frame_Shift_Ins_p.F301fs|PCDH15_uc010qhx.1_Frame_Shift_Ins_p.F338fs|PCDH15_uc010qhy.1_Frame_Shift_Ins_p.F343fs|PCDH15_uc010qhz.1_Frame_Shift_Ins_p.F338fs|PCDH15_uc010qia.1_Frame_Shift_Ins_p.F316fs|PCDH15_uc010qib.1_Frame_Shift_Ins_p.F316fs|PCDH15_uc001jjw.2_Frame_Shift_Ins_p.F338fs	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	338	Cadherin 3.|Extracellular (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)				GATGCATATGGAAAAATCGTGG	0.366		NaN								HNSCC(58;0.16)			NaN	NaN	NaN	NaN	NaN	8	57	---		---	---
CHEK1	1111	broad.mit.edu	37	11	125505377	125505378	+	Frame_Shift_Ins	INS	-	-	A	rs35817404		TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr11:125505377_125505378insA	uc009zbo.2	+	7	1559_1560	c.667_668insA	c.(667-669)GAAfs	p.E223fs	CHEK1_uc010sbh.1_Frame_Shift_Ins_p.E239fs|CHEK1_uc010sbi.1_Frame_Shift_Ins_p.E223fs|CHEK1_uc001qcf.3_Frame_Shift_Ins_p.E223fs|CHEK1_uc009zbp.2_Frame_Shift_Ins_p.E223fs|CHEK1_uc001qcg.3_Frame_Shift_Ins_p.E223fs|CHEK1_uc009zbq.2_Frame_Shift_Ins_p.E223fs|CHEK1_uc001qci.1_RNA	NM_001114122	NP_001107594	O14757	CHK1_HUMAN	checkpoint kinase 1	223	Protein kinase.				cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(3)|lung(2)|skin(1)	6	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		TGACTGGAAAGAAAAAAAAACA	0.361		NaN						Other_conserved_DNA_damage_response_genes					NaN	NaN	NaN	NaN	NaN	8	126	---		---	---
A2BP1	54715	broad.mit.edu	37	16	7645615	7645616	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr16:7645615_7645616insCA	uc002cys.2	+	8	1521_1522	c.533_534insCA	c.(532-534)GGCfs	p.G178fs	A2BP1_uc010buf.1_Frame_Shift_Ins_p.G178fs|A2BP1_uc002cyr.1_Frame_Shift_Ins_p.G177fs|A2BP1_uc002cyt.2_Frame_Shift_Ins_p.G178fs|A2BP1_uc010uxz.1_Frame_Shift_Ins_p.G221fs|A2BP1_uc010uya.1_Intron|A2BP1_uc002cyv.1_Frame_Shift_Ins_p.G178fs|A2BP1_uc010uyb.1_Frame_Shift_Ins_p.G178fs|A2BP1_uc002cyw.2_Frame_Shift_Ins_p.G198fs|A2BP1_uc002cyy.2_Frame_Shift_Ins_p.G198fs|A2BP1_uc002cyx.2_Frame_Shift_Ins_p.G198fs|A2BP1_uc010uyc.1_Frame_Shift_Ins_p.G198fs	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	ataxin 2-binding protein 1 isoform 4	178	RRM.				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding				0		all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211)		Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499)		AAATTACACGGCACCGTGGTAG	0.45		NaN											NaN	NaN	NaN	NaN	NaN	8	133	---		---	---
MC4R	4160	broad.mit.edu	37	18	58038747	58038748	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr18:58038747_58038748delCA	uc002lie.1	-	1	1254_1255	c.835_836delTG	c.(835-837)TGCfs	p.C279fs		NM_005912	NP_005903	P32245	MC4R_HUMAN	melanocortin 4 receptor	279	Extracellular (Potential).				feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding			lung(1)	1		Colorectal(73;0.0946)				AGACATGAAGCACACACAATAT	0.421		NaN											NaN	NaN	NaN	NaN	NaN	11	59	---		---	---
NKAIN4	128414	broad.mit.edu	37	20	61873940	61873941	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr20:61873940_61873941delAG	uc002yek.2	-	6	657_658	c.567_568delCT	c.(565-570)CTCTACfs	p.L189fs		NM_152864	NP_690603	Q8IVV8	NKAI4_HUMAN	Na+/K+ transporting ATPase interacting 4	189_190						integral to membrane|plasma membrane					0	all_cancers(38;2.72e-09)					TTGACATGGTAGAGAGGAAATG	0.446		NaN											NaN	NaN	NaN	NaN	NaN	36	247	---		---	---
